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Solute carrier family 22 member 5 (High-affinity sodium-dependent carnitine cotransporter) (Organic cation/carnitine transporter 2)

 S22A5_HUMAN             Reviewed;         557 AA.
O76082; A2Q0V1; B2R844; D3DQ87; Q6ZQZ8; Q96EH6;
01-DEC-2000, integrated into UniProtKB/Swiss-Prot.
01-NOV-1998, sequence version 1.
25-OCT-2017, entry version 168.
RecName: Full=Solute carrier family 22 member 5;
AltName: Full=High-affinity sodium-dependent carnitine cotransporter;
AltName: Full=Organic cation/carnitine transporter 2;
Name=SLC22A5; Synonyms=OCTN2;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
PubMed=9618255; DOI=10.1006/bbrc.1998.8669;
Wu X., Prasad P.D., Leibach F.H., Ganapathy V.;
"cDNA sequence, transport function, and genomic organization of human
OCTN2, a new member of the organic cation transporter family.";
Biochem. Biophys. Res. Commun. 246:589-595(1998).
[2]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
TISSUE=Kidney;
PubMed=9685390; DOI=10.1074/jbc.273.32.20378;
Tamai I., Ohashi R., Nezu J., Yabuuchi H., Oku A., Shimane M., Sai Y.,
Tsuji A.;
"Molecular and functional identification of sodium ion-dependent, high
affinity human carnitine transporter OCTN2.";
J. Biol. Chem. 273:20378-20382(1998).
[3]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1).
PubMed=9916797; DOI=10.1038/5030;
Nezu J., Tamai I., Oku A., Ohashi R., Yabuuchi H., Hashimoto N.,
Nikaido H., Sai Y., Koizumi A., Shoji Y., Takada G., Matsuishi T.,
Yashino M., Kato H., Ohura T., Tsujimoto G., Hayakawa J., Shimane M.,
Tsuji A.;
"Primary systemic carnitine deficiency is caused by mutations in a
gene encoding sodium ion-dependent carnitine transporter.";
Nat. Genet. 21:91-94(1999).
[4]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
PubMed=17509700; DOI=10.1016/j.bbamcr.2007.04.005;
Maekawa S., Mori D., Nishiya T., Takikawa O., Horinouchi T.,
Nishimoto A., Kajita E., Miwa S.;
"OCTN2VT, a splice variant of OCTN2, does not transport carnitine
because of the retention in the endoplasmic reticulum caused by
insertion of 24 amino acids in the first extracellular loop of
OCTN2.";
Biochim. Biophys. Acta 1773:1000-1006(2007).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
TISSUE=Trachea;
PubMed=14702039; DOI=10.1038/ng1285;
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=15372022; DOI=10.1038/nature02919;
Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S.,
Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M.,
She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.,
Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M.,
Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T.,
Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M.,
Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K.,
Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C.,
Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M.,
Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A.,
Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M.,
Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M.,
Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S.,
Richardson P., Lucas S.M., Myers R.M., Rubin E.M.;
"The DNA sequence and comparative analysis of human chromosome 5.";
Nature 431:268-274(2004).
[7]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
Venter J.C.;
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
[8]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Lung;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[9]
FUNCTION, AND TISSUE SPECIFICITY.
PubMed=10454528;
Wu X., Huang W., Prasad P.D., Seth P., Rajan D.P., Leibach F.H.,
Chen J., Conway S.J., Ganapathy V.;
"Functional characteristics and tissue distribution pattern of organic
cation transporter 2 (OCTN2), an organic cation/carnitine
transporter.";
J. Pharmacol. Exp. Ther. 290:1482-1492(1999).
[10]
GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-57 AND ASN-91.
TISSUE=Leukemic T-cell;
PubMed=19349973; DOI=10.1038/nbt.1532;
Wollscheid B., Bausch-Fluck D., Henderson C., O'Brien R., Bibel M.,
Schiess R., Aebersold R., Watts J.D.;
"Mass-spectrometric identification and relative quantification of N-
linked cell surface glycoproteins.";
Nat. Biotechnol. 27:378-386(2009).
[11]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-486, AND IDENTIFICATION
BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Leukemic T-cell;
PubMed=19690332; DOI=10.1126/scisignal.2000007;
Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K.,
Rodionov V., Han D.K.;
"Quantitative phosphoproteomic analysis of T cell receptor signaling
reveals system-wide modulation of protein-protein interactions.";
Sci. Signal. 2:RA46-RA46(2009).
[12]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-550, AND IDENTIFICATION
BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Cervix carcinoma;
PubMed=23186163; DOI=10.1021/pr300630k;
Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
Mohammed S.;
"Toward a comprehensive characterization of a human cancer cell
phosphoproteome.";
J. Proteome Res. 12:260-271(2013).
[13]
VARIANT CDSP GLN-169.
PubMed=10425211; DOI=10.1006/bbrc.1999.1060;
Burwinkel B., Kreuder J., Schweitzer S., Vorgerd M., Gempel K.,
Gerbitz K.-D., Kilimann M.W.;
"Carnitine transporter OCTN2 mutations in systemic primary carnitine
deficiency: a novel Arg169Gln mutation and a recurrent Arg282ter
mutation associated with an unconventional splicing abnormality.";
Biochem. Biophys. Res. Commun. 261:484-487(1999).
[14]
VARIANT CDSP CYS-211.
PubMed=10480371; DOI=10.1007/s004399900105;
Vaz F.M., Scholte H.R., Ruiter J., Hussaarts-Odijk L.M.,
Rodrigues Pereira R., Schweitzer S., de Klerk J.B.C., Waterham H.R.,
Wanders R.J.A.;
"Identification of two novel mutations in OCTN2 of three patients with
systemic carnitine deficiency.";
Hum. Genet. 105:157-161(1999).
[15]
VARIANT CDSP LEU-478.
PubMed=10072434; DOI=10.1093/hmg/8.4.655;
Tang N.L., Ganapathy V., Wu X., Hui J., Seth P., Yuen P.M.,
Wanders R.J., Fok T.F., Hjelm N.M.;
"Mutations of OCTN2, an organic cation/carnitine transporter, lead to
deficient cellular carnitine uptake in primary carnitine deficiency.";
Hum. Mol. Genet. 8:655-660(1999).
[16]
VARIANTS CDSP LEU-179; CYS-283 AND CYS-467, AND CHARACTERIZATION OF
VARIANTS CDSP LEU-179; CYS-283 AND CYS-467.
PubMed=10545605; DOI=10.1093/hmg/8.12.2247;
Koizumi A., Nozaki J., Ohura T., Kayo T., Wada Y., Nezu J., Ohashi R.,
Tamai I., Shoji Y., Takada G., Kibira S., Matsuishi T., Tsuji A.;
"Genetic epidemiology of the carnitine transporter OCTN2 gene in a
Japanese population and phenotypic characterization in Japanese
pedigrees with primary systemic carnitine deficiency.";
Hum. Mol. Genet. 8:2247-2254(1999).
[17]
CHARACTERIZATION OF VARIANT CDSP LEU-478, AND MUTAGENESIS.
PubMed=10559218; DOI=10.1074/jbc.274.47.33388;
Seth P., Wu X., Huang W., Leibach F.H., Ganapathy V.;
"Mutations in novel organic cation transporter (OCTN2), an organic
cation/carnitine transporter, with differential effects on the organic
cation transport function and the carnitine transport function.";
J. Biol. Chem. 274:33388-33392(1999).
[18]
VARIANTS CDSP ARG-283 AND PHE-446.
PubMed=10612840;
DOI=10.1002/(SICI)1098-1004(200001)15:1<118::AID-HUMU28>3.0.CO;2-8;
Mayatepek E., Nezu J., Tamai I., Oku A., Katsura M., Shimane M.,
Tsuji A.;
"Two novel missense mutations of the OCTN2 gene (W283R and V446F) in a
patient with primary systemic carnitine deficiency.";
Hum. Mutat. 15:118-118(2000).
[19]
SUBCELLULAR LOCATION, AND VARIANT CDSP LYS-452.
PubMed=10679939;
DOI=10.1002/(SICI)1098-1004(200003)15:3<238::AID-HUMU4>3.0.CO;2-3;
Wang Y., Kelly M.A., Cowan T.M., Longo N.;
"A missense mutation in the OCTN2 gene associated with residual
carnitine transport activity.";
Hum. Mutat. 15:238-245(2000).
[20]
VARIANTS CDSP TRP-169; VAL-242; ASP-301 AND ARG-351, AND
CHARACTERIZATION OF VARIANTS CDSP TRP-169; VAL-242; ASP-301 AND
ARG-351.
PubMed=11058897;
DOI=10.1002/1098-1004(200011)16:5<401::AID-HUMU4>3.0.CO;2-J;
Wang Y., Taroni F., Garavaglia B., Longo N.;
"Functional analysis of mutations in the OCTN2 transporter causing
primary carnitine deficiency: lack of genotype-phenotype
correlation.";
Hum. Mutat. 16:401-407(2000).
[21]
VARIANTS CDSP PRO-19 AND GLN-399, AND CHARACTERIZATION OF VARIANTS
CDSP PRO-19 AND GLN-399.
PubMed=11715001; DOI=10.1097/00125817-200111000-00002;
Wang Y., Korman S.H., Ye J., Gargus J.J., Gutman A., Taroni F.,
Garavaglia B., Longo N.;
"Phenotype and genotype variation in primary carnitine deficiency.";
Genet. Med. 3:387-392(2001).
[22]
VARIANT CDSP LEU-83.
PubMed=15617188; DOI=10.1023/B:BOLI.0000045837.23328.f4;
Makhseed N., Vallance H.D., Potter M., Waters P.J., Wong L.T.K.,
Lillquist Y., Pasquali M., Amat di San Filippo C., Longo N.;
"Carnitine transporter defect due to a novel mutation in the SLC22A5
gene presenting with peripheral neuropathy.";
J. Inherit. Metab. Dis. 27:778-780(2004).
[23]
VARIANTS CDSP PRO-19; LEU-83; TRP-169; MET-232; VAL-242; ASP-301;
ARG-351; GLN-399; CYS-447; ASP-449; LYS-452 AND ARG-468, AND
CHARACTERIZATION OF VARIANTS MET-232 AND ARG-468.
PubMed=15714519; DOI=10.1002/humu.20137;
Dobrowolski S.F., McKinney J.T., Amat di San Filippo C., Giak Sim K.,
Wilcken B., Longo N.;
"Validation of dye-binding/high-resolution thermal denaturation for
the identification of mutations in the SLC22A5 gene.";
Hum. Mutat. 25:306-313(2005).
[24]
VARIANTS LEU-17; PHE-144; ASP-449; ILE-481; PHE-481; LEU-508; VAL-530
AND SER-549.
PubMed=16931768; DOI=10.1124/mol.106.028126;
Urban T.J., Gallagher R.C., Brown C., Castro R.A., Lagpacan L.L.,
Brett C.M., Taylor T.R., Carlson E.J., Ferrin T.E., Burchard E.G.,
Packman S., Giacomini K.M.;
"Functional genetic diversity in the high-affinity carnitine
transporter OCTN2 (SLC22A5).";
Mol. Pharmacol. 70:1602-1611(2006).
[25]
VARIANTS CDSP SER-32; SER-46; CYS-467 AND CYS-488, AND
CHARACTERIZATION OF VARIANT CDSP SER-46.
PubMed=17126586; DOI=10.1016/j.ymgme.2006.10.003;
Schimmenti L.A., Crombez E.A., Schwahn B.C., Heese B.A., Wood T.C.,
Schroer R.J., Bentler K., Cederbaum S., Sarafoglou K., McCann M.,
Rinaldo P., Matern D., di San Filippo C.A., Pasquali M., Berry S.A.,
Longo N.;
"Expanded newborn screening identifies maternal primary carnitine
deficiency.";
Mol. Genet. Metab. 90:441-445(2007).
[26]
VARIANTS CDSP TRP-15; SER-46; LEU-83; SER-142; VAL-214; MET-232;
TRP-399 AND ILE-442.
PubMed=20027113; DOI=10.1097/GIM.0b013e3181c5e6f7;
El-Hattab A.W., Li F.-Y., Shen J., Powell B.R., Bawle E.V.,
Adams D.J., Wahl E., Kobori J.A., Graham B., Scaglia F., Wong L.-J.;
"Maternal systemic primary carnitine deficiency uncovered by newborn
screening: clinical, biochemical, and molecular aspects.";
Genet. Med. 12:19-24(2010).
[27]
VARIANTS CDSP SER-12; TRP-15; LEU-17; SER-32; SER-46; LEU-83; TYR-122;
SER-142; TRP-169; GLN-169; PRO-186; VAL-214; HIS-227; MET-232;
TRP-257; ARG-264; GLN-282; LEU-355; LEU-398; TRP-399; MET-440;
ILE-442; VAL-443; ASP-449; LYS-452; ARG-455; CYS-467; CYS-488 AND
SER-507, AND VARIANTS PRO-66; PRO-75; ALA-96; GLY-123; LEU-143;
VAL-177; LEU-230; THR-240; VAL-312; ASN-358 AND SER-549.
PubMed=20574985; DOI=10.1002/humu.21311;
Li F.-Y., El-Hattab A.W., Bawle E.V., Boles R.G., Schmitt E.S.,
Scaglia F., Wong L.-J.;
"Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143
subjects evaluated for systemic carnitine deficiency.";
Hum. Mutat. 31:E1632-E1651(2010).
[28]
VARIANTS CDSP LEU-17; ARG-234; GLN-282; LEU-362; CYS-467 AND CYS-471,
AND VARIANT LEU-143.
PubMed=20074989; DOI=10.1016/j.ymgme.2009.12.015;
Lee N.-C., Tang N.-L., Chien Y.-H., Chen C.-A., Lin S.-J., Chiu P.-C.,
Huang A.-C., Hwu W.-L.;
"Diagnoses of newborns and mothers with carnitine uptake defects
through newborn screening.";
Mol. Genet. Metab. 100:46-50(2010).
[29]
VARIANTS CDSP TRP-15; PRO-19; PHE-22 DEL; ASN-26; SER-32; SER-46;
LEU-83; SER-142; GLN-169; TRP-169; VAL-214; MET-232; PHE-280; GLN-282;
ARG-283; ARG-351; MET-440; ILE-442; PHE-446; CYS-447; CYS-467; PRO-471
AND HIS-488, AND CHARACTERIZATION OF VARIANTS CDSP TRP-15; PRO-19;
PHE-22 DEL; ASN-26; SER-32; SER-46; LEU-83; GLN-169; TRP-169; VAL-214;
MET-232; PHE-280; GLN-282; ARG-283; ARG-351; MET-440; ILE-442;
PHE-446; CYS-447; CYS-467 AND PRO-471.
PubMed=21922592; DOI=10.1002/humu.21607;
Rose E.C., di San Filippo C.A., Ndukwe Erlingsson U.C., Ardon O.,
Pasquali M., Longo N.;
"Genotype-phenotype correlation in primary carnitine deficiency.";
Hum. Mutat. 33:118-123(2012).
-!- FUNCTION: Sodium-ion dependent, high affinity carnitine
transporter. Involved in the active cellular uptake of carnitine.
Transports one sodium ion with one molecule of carnitine. Also
transports organic cations such as tetraethylammonium (TEA)
without the involvement of sodium. Also relative uptake activity
ratio of carnitine to TEA is 11.3. {ECO:0000269|PubMed:10454528}.
-!- SUBUNIT: Interacts with PDZK1. {ECO:0000250}.
-!- SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:10679939};
Multi-pass membrane protein {ECO:0000269|PubMed:10679939}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=3;
Name=1;
IsoId=O76082-1; Sequence=Displayed;
Name=2;
IsoId=O76082-2; Sequence=VSP_011120, VSP_011121;
Note=No experimental confirmation available.;
Name=3; Synonyms=OCTN2VT;
IsoId=O76082-3; Sequence=VSP_043904;
Note=Retained in the ER, unable to perform carnitine uptake.;
-!- TISSUE SPECIFICITY: Strongly expressed in kidney, skeletal muscle,
heart and placenta. Highly expressed in intestinal cell types
affected by Crohn disease, including epithelial cells. Expressed
in CD68 macrophage and CD43 T-cells but not in CD20 B-cells.
{ECO:0000269|PubMed:10454528}.
-!- DISEASE: Systemic primary carnitine deficiency (CDSP)
[MIM:212140]: Autosomal recessive disorder of fatty acid oxidation
caused by defective carnitine transport. Present early in life
with hypoketotic hypoglycemia and acute metabolic decompensation,
or later in life with skeletal myopathy or cardiomyopathy.
{ECO:0000269|PubMed:10072434, ECO:0000269|PubMed:10425211,
ECO:0000269|PubMed:10480371, ECO:0000269|PubMed:10545605,
ECO:0000269|PubMed:10559218, ECO:0000269|PubMed:10612840,
ECO:0000269|PubMed:10679939, ECO:0000269|PubMed:11058897,
ECO:0000269|PubMed:11715001, ECO:0000269|PubMed:15617188,
ECO:0000269|PubMed:15714519, ECO:0000269|PubMed:17126586,
ECO:0000269|PubMed:20027113, ECO:0000269|PubMed:20074989,
ECO:0000269|PubMed:20574985, ECO:0000269|PubMed:21922592}.
Note=The disease is caused by mutations affecting the gene
represented in this entry.
-!- MISCELLANEOUS: Inhibited by emetine, quinidine and verapamil. The
IC(50) of emetine is 4.2 uM. Not inhibited by valproic acid.
-!- SIMILARITY: Belongs to the major facilitator (TC 2.A.1)
superfamily. Organic cation transporter (TC 2.A.1.19) family.
{ECO:0000305}.
-!- WEB RESOURCE: Name=The SLC22A5 database;
URL="http://www.arup.utah.edu/database/OCTN2/OCTN2_welcome.php";
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EMBL; AF057164; AAC24828.1; -; mRNA.
EMBL; AB015050; BAA29023.1; -; mRNA.
EMBL; AB016625; BAA36712.1; -; Genomic_DNA.
EMBL; AB291606; BAF45812.1; -; mRNA.
EMBL; AK128610; BAC87527.1; -; mRNA.
EMBL; AK313230; BAG36041.1; -; mRNA.
EMBL; AC118464; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; CH471062; EAW62337.1; -; Genomic_DNA.
EMBL; CH471062; EAW62338.1; -; Genomic_DNA.
EMBL; BC012325; AAH12325.1; -; mRNA.
CCDS; CCDS4154.1; -. [O76082-1]
CCDS; CCDS78058.1; -. [O76082-3]
PIR; JW0089; JW0089.
RefSeq; NP_001295051.1; NM_001308122.1. [O76082-3]
RefSeq; NP_003051.1; NM_003060.3. [O76082-1]
UniGene; Hs.443572; -.
ProteinModelPortal; O76082; -.
BioGrid; 112471; 6.
IntAct; O76082; 5.
STRING; 9606.ENSP00000245407; -.
ChEMBL; CHEMBL2073693; -.
DrugBank; DB08842; Acetylcarnitine.
DrugBank; DB03128; Acetylcholine.
DrugBank; DB04630; Aldosterone.
DrugBank; DB00345; Aminohippuric acid.
DrugBank; DB00182; Amphetamine.
DrugBank; DB00415; Ampicillin.
DrugBank; DB08795; Azidocillin.
DrugBank; DB01053; Benzylpenicillin.
DrugBank; DB01140; Cefadroxil.
DrugBank; DB00456; Cefalotin.
DrugBank; DB00535; Cefdinir.
DrugBank; DB01413; Cefepime.
DrugBank; DB00671; Cefixime.
DrugBank; DB01333; Cefradine.
DrugBank; DB00438; Ceftazidime.
DrugBank; DB00567; Cephalexin.
DrugBank; DB00689; Cephaloglycin.
DrugBank; DB00122; Choline.
DrugBank; DB00501; Cimetidine.
DrugBank; DB00575; Clonidine.
DrugBank; DB00148; Creatine.
DrugBank; DB01000; Cyclacillin.
DrugBank; DB00970; Dactinomycin.
DrugBank; DB04133; Degraded Cephaloridine.
DrugBank; DB01151; Desipramine.
DrugBank; DB01075; Diphenhydramine.
DrugBank; DB00988; Dopamine.
DrugBank; DB00668; Epinephrine.
DrugBank; DB00695; Furosemide.
DrugBank; DB00365; Grepafloxacin.
DrugBank; DB00536; Guanidine.
DrugBank; DB05381; Histamine.
DrugBank; DB00332; Ipratropium bromide.
DrugBank; DB00125; L-Arginine.
DrugBank; DB00583; L-Carnitine.
DrugBank; DB00281; Lidocaine.
DrugBank; DB00978; Lomefloxacin.
DrugBank; DB06691; Mepyramine.
DrugBank; DB01577; Methamphetamine.
DrugBank; DB00627; Niacin.
DrugBank; DB00184; Nicotine.
DrugBank; DB00368; Norepinephrine.
DrugBank; DB01059; Norfloxacin.
DrugBank; DB01165; Ofloxacin.
DrugBank; DB01032; Probenecid.
DrugBank; DB01035; Procainamide.
DrugBank; DB00908; Quinidine.
DrugBank; DB00468; Quinine.
DrugBank; DB01208; Sparfloxacin.
DrugBank; DB08837; Tetraethylammonium.
DrugBank; DB00152; Thiamine.
DrugBank; DB01409; Tiotropium.
DrugBank; DB00313; Valproic Acid.
DrugBank; DB00661; Verapamil.
TCDB; 2.A.1.19.3; the major facilitator superfamily (mfs).
iPTMnet; O76082; -.
PhosphoSitePlus; O76082; -.
BioMuta; SLC22A5; -.
MaxQB; O76082; -.
PaxDb; O76082; -.
PeptideAtlas; O76082; -.
PRIDE; O76082; -.
DNASU; 6584; -.
Ensembl; ENST00000245407; ENSP00000245407; ENSG00000197375. [O76082-1]
Ensembl; ENST00000435065; ENSP00000402760; ENSG00000197375. [O76082-3]
GeneID; 6584; -.
KEGG; hsa:6584; -.
UCSC; uc003kww.5; human. [O76082-1]
CTD; 6584; -.
DisGeNET; 6584; -.
EuPathDB; HostDB:ENSG00000197375.12; -.
GeneCards; SLC22A5; -.
GeneReviews; SLC22A5; -.
HGNC; HGNC:10969; SLC22A5.
HPA; HPA063062; -.
MalaCards; SLC22A5; -.
MIM; 212140; phenotype.
MIM; 603377; gene.
neXtProt; NX_O76082; -.
OpenTargets; ENSG00000197375; -.
Orphanet; 158; Systemic primary carnitine deficiency.
PharmGKB; PA333; -.
eggNOG; ENOG410IRIE; Eukaryota.
eggNOG; ENOG410XSRI; LUCA.
GeneTree; ENSGT00760000118852; -.
HOGENOM; HOG000234570; -.
HOVERGEN; HBG061545; -.
InParanoid; O76082; -.
KO; K08202; -.
OMA; NIRMVTI; -.
OrthoDB; EOG091G05AC; -.
PhylomeDB; O76082; -.
TreeFam; TF315847; -.
Reactome; R-HSA-200425; Import of palmitoyl-CoA into the mitochondrial matrix.
Reactome; R-HSA-549127; Organic cation transport.
GeneWiki; SLC22A5; -.
GenomeRNAi; 6584; -.
PRO; PR:O76082; -.
Proteomes; UP000005640; Chromosome 5.
Bgee; ENSG00000197375; -.
CleanEx; HS_SLC22A5; -.
ExpressionAtlas; O76082; baseline and differential.
Genevisible; O76082; HS.
GO; GO:0016324; C:apical plasma membrane; IDA:BHF-UCL.
GO; GO:0031526; C:brush border membrane; IDA:BHF-UCL.
GO; GO:0070062; C:extracellular exosome; IDA:UniProtKB.
GO; GO:0005887; C:integral component of plasma membrane; IBA:GO_Central.
GO; GO:0005886; C:plasma membrane; TAS:Reactome.
GO; GO:0005524; F:ATP binding; IEA:UniProtKB-KW.
GO; GO:0015226; F:carnitine transmembrane transporter activity; IDA:BHF-UCL.
GO; GO:0015491; F:cation:cation antiporter activity; IBA:GO_Central.
GO; GO:0015238; F:drug transmembrane transporter activity; IC:BHF-UCL.
GO; GO:0008514; F:organic anion transmembrane transporter activity; IBA:GO_Central.
GO; GO:0030165; F:PDZ domain binding; IPI:BHF-UCL.
GO; GO:0015651; F:quaternary ammonium group transmembrane transporter activity; IDA:BHF-UCL.
GO; GO:0015293; F:symporter activity; IEA:UniProtKB-KW.
GO; GO:0009437; P:carnitine metabolic process; IBA:GO_Central.
GO; GO:1902603; P:carnitine transmembrane transport; TAS:Reactome.
GO; GO:0015879; P:carnitine transport; IDA:BHF-UCL.
GO; GO:0015893; P:drug transport; IC:BHF-UCL.
GO; GO:0060731; P:positive regulation of intestinal epithelial structure maintenance; IMP:BHF-UCL.
GO; GO:0015697; P:quaternary ammonium group transport; IDA:BHF-UCL.
GO; GO:0052106; P:quorum sensing involved in interaction with host; IMP:BHF-UCL.
GO; GO:0006814; P:sodium ion transport; IEA:UniProtKB-KW.
GO; GO:0070715; P:sodium-dependent organic cation transport; IDA:BHF-UCL.
CDD; cd06174; MFS; 1.
InterPro; IPR020846; MFS_dom.
InterPro; IPR005828; MFS_sugar_transport-like.
InterPro; IPR036259; MFS_trans_sf.
InterPro; IPR004749; Orgcat_transp/SVOP.
InterPro; IPR005829; Sugar_transporter_CS.
Pfam; PF00083; Sugar_tr; 1.
SUPFAM; SSF103473; SSF103473; 1.
TIGRFAMs; TIGR00898; 2A0119; 1.
PROSITE; PS50850; MFS; 1.
PROSITE; PS00216; SUGAR_TRANSPORT_1; 1.
1: Evidence at protein level;
Alternative splicing; ATP-binding; Complete proteome;
Disease mutation; Glycoprotein; Ion transport; Membrane;
Nucleotide-binding; Phosphoprotein; Polymorphism; Reference proteome;
Sodium; Sodium transport; Symport; Transmembrane; Transmembrane helix;
Transport.
CHAIN 1 557 Solute carrier family 22 member 5.
/FTId=PRO_0000220500.
TOPO_DOM 1 20 Cytoplasmic. {ECO:0000255}.
TRANSMEM 21 41 Helical; Name=1. {ECO:0000255}.
TOPO_DOM 42 142 Extracellular. {ECO:0000255}.
TRANSMEM 143 163 Helical; Name=2. {ECO:0000255}.
TOPO_DOM 164 172 Cytoplasmic. {ECO:0000255}.
TRANSMEM 173 193 Helical; Name=3. {ECO:0000255}.
TOPO_DOM 194 197 Extracellular. {ECO:0000255}.
TRANSMEM 198 218 Helical; Name=4. {ECO:0000255}.
TOPO_DOM 219 232 Cytoplasmic. {ECO:0000255}.
TRANSMEM 233 253 Helical; Name=5. {ECO:0000255}.
TOPO_DOM 254 257 Extracellular. {ECO:0000255}.
TRANSMEM 258 278 Helical; Name=6. {ECO:0000255}.
TOPO_DOM 279 341 Cytoplasmic. {ECO:0000255}.
TRANSMEM 342 362 Helical; Name=7. {ECO:0000255}.
TOPO_DOM 363 373 Extracellular. {ECO:0000255}.
TRANSMEM 374 394 Helical; Name=8. {ECO:0000255}.
TOPO_DOM 395 406 Cytoplasmic. {ECO:0000255}.
TRANSMEM 407 427 Helical; Name=9. {ECO:0000255}.
TOPO_DOM 428 430 Extracellular. {ECO:0000255}.
TRANSMEM 431 451 Helical; Name=10. {ECO:0000255}.
TOPO_DOM 452 462 Cytoplasmic. {ECO:0000255}.
TRANSMEM 463 483 Helical; Name=11. {ECO:0000255}.
TOPO_DOM 484 488 Extracellular. {ECO:0000255}.
TRANSMEM 489 509 Helical; Name=12. {ECO:0000255}.
NP_BIND 218 225 ATP. {ECO:0000255}.
MOD_RES 486 486 Phosphotyrosine.
{ECO:0000244|PubMed:19690332}.
MOD_RES 550 550 Phosphothreonine.
{ECO:0000244|PubMed:23186163}.
CARBOHYD 57 57 N-linked (GlcNAc...) asparagine.
{ECO:0000269|PubMed:19349973}.
CARBOHYD 64 64 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 91 91 N-linked (GlcNAc...) asparagine.
{ECO:0000269|PubMed:19349973}.
VAR_SEQ 1 336 Missing (in isoform 2).
{ECO:0000303|PubMed:14702039}.
/FTId=VSP_011120.
VAR_SEQ 131 131 E -> EQDSGAYNAMKNRMGKKPALCLPAQ (in
isoform 3).
{ECO:0000303|PubMed:17509700}.
/FTId=VSP_043904.
VAR_SEQ 337 351 TWNIRMVTIMSIMLW -> MWILLFQLSSALCFR (in
isoform 2).
{ECO:0000303|PubMed:14702039}.
/FTId=VSP_011121.
VARIANT 12 12 G -> S (in CDSP; dbSNP:rs139203363).
{ECO:0000269|PubMed:20574985}.
/FTId=VAR_064109.
VARIANT 15 15 G -> W (in CDSP; dbSNP:rs267607052).
{ECO:0000269|PubMed:20027113,
ECO:0000269|PubMed:20574985,
ECO:0000269|PubMed:21922592}.
/FTId=VAR_064110.
VARIANT 17 17 F -> L (in CDSP; dbSNP:rs11568520).
{ECO:0000269|PubMed:16931768,
ECO:0000269|PubMed:20074989,
ECO:0000269|PubMed:20574985}.
/FTId=VAR_020347.
VARIANT 19 19 R -> P (in CDSP; carnitine transport is
reduced to less than 5% of normal;
dbSNP:rs72552723).
{ECO:0000269|PubMed:11715001,
ECO:0000269|PubMed:15714519,
ECO:0000269|PubMed:21922592}.
/FTId=VAR_064111.
VARIANT 22 22 Missing (in CDSP; reduces carnitine
transport).
{ECO:0000269|PubMed:21922592}.
/FTId=VAR_066842.
VARIANT 26 26 S -> N (in CDSP; reduces carnitine
transport; dbSNP:rs772578415).
{ECO:0000269|PubMed:21922592}.
/FTId=VAR_066843.
VARIANT 32 32 N -> S (in CDSP; reduces carnitine
transport; dbSNP:rs72552725).
{ECO:0000269|PubMed:17126586,
ECO:0000269|PubMed:20574985,
ECO:0000269|PubMed:21922592}.
/FTId=VAR_064112.
VARIANT 46 46 P -> S (in CDSP; carnitine transport is
reduced to less than 5% of normal;
dbSNP:rs202088921).
{ECO:0000269|PubMed:17126586,
ECO:0000269|PubMed:20027113,
ECO:0000269|PubMed:20574985,
ECO:0000269|PubMed:21922592}.
/FTId=VAR_064113.
VARIANT 66 66 T -> P (associated with CDSP;
unclassified missense variant).
{ECO:0000269|PubMed:20574985}.
/FTId=VAR_064114.
VARIANT 75 75 R -> P (associated with CDSP;
unclassified missense variant;
dbSNP:rs757711838).
{ECO:0000269|PubMed:20574985}.
/FTId=VAR_064115.
VARIANT 83 83 R -> L (in CDSP; reduces carnitine
transport; dbSNP:rs72552726).
{ECO:0000269|PubMed:15617188,
ECO:0000269|PubMed:15714519,
ECO:0000269|PubMed:20027113,
ECO:0000269|PubMed:20574985,
ECO:0000269|PubMed:21922592}.
/FTId=VAR_064116.
VARIANT 96 96 G -> A (associated with CDSP;
unclassified missense variant;
dbSNP:rs377767450).
{ECO:0000269|PubMed:20574985}.
/FTId=VAR_064117.
VARIANT 122 122 D -> Y (in CDSP; dbSNP:rs201082652).
{ECO:0000269|PubMed:20574985}.
/FTId=VAR_064118.
VARIANT 123 123 V -> G (associated with CDSP;
unclassified missense variant;
dbSNP:rs748605096).
{ECO:0000269|PubMed:20574985}.
/FTId=VAR_064119.
VARIANT 142 142 A -> S (in CDSP; dbSNP:rs151231558).
{ECO:0000269|PubMed:20027113,
ECO:0000269|PubMed:20574985,
ECO:0000269|PubMed:21922592}.
/FTId=VAR_064120.
VARIANT 143 143 P -> L (associated with CDSP;
unclassified missense variant).
{ECO:0000269|PubMed:20074989,
ECO:0000269|PubMed:20574985}.
/FTId=VAR_064121.
VARIANT 144 144 L -> F (in dbSNP:rs10040427).
{ECO:0000269|PubMed:16931768}.
/FTId=VAR_020348.
VARIANT 169 169 R -> Q (in CDSP; reduces carnitine
transport; dbSNP:rs121908889).
{ECO:0000269|PubMed:10425211,
ECO:0000269|PubMed:20574985,
ECO:0000269|PubMed:21922592}.
/FTId=VAR_009252.
VARIANT 169 169 R -> W (in CDSP; abolishes carnitine
transport; dbSNP:rs121908890).
{ECO:0000269|PubMed:11058897,
ECO:0000269|PubMed:15714519,
ECO:0000269|PubMed:20574985,
ECO:0000269|PubMed:21922592}.
/FTId=VAR_064122.
VARIANT 177 177 M -> V (associated with CDSP;
unclassified missense variant;
dbSNP:rs145068530).
{ECO:0000269|PubMed:20574985}.
/FTId=VAR_064123.
VARIANT 179 179 M -> L (in CDSP; dbSNP:rs386134196).
{ECO:0000269|PubMed:10545605}.
/FTId=VAR_022564.
VARIANT 186 186 L -> P (in CDSP; dbSNP:rs386134197).
{ECO:0000269|PubMed:20574985}.
/FTId=VAR_064124.
VARIANT 211 211 Y -> C (in CDSP; dbSNP:rs121908888).
{ECO:0000269|PubMed:10480371}.
/FTId=VAR_009253.
VARIANT 214 214 A -> V (in CDSP; reduces carnitine
transport; dbSNP:rs386134199).
{ECO:0000269|PubMed:20027113,
ECO:0000269|PubMed:20574985,
ECO:0000269|PubMed:21922592}.
/FTId=VAR_064125.
VARIANT 227 227 R -> H (in CDSP; dbSNP:rs185551386).
{ECO:0000269|PubMed:20574985}.
/FTId=VAR_064126.
VARIANT 230 230 F -> L (associated with CDSP;
unclassified missense variant;
dbSNP:rs756650860).
{ECO:0000269|PubMed:20574985}.
/FTId=VAR_064127.
VARIANT 232 232 T -> M (in CDSP; markedly reduced
carnitine transport compared to the wild-
type protein; dbSNP:rs114269482).
{ECO:0000269|PubMed:15714519,
ECO:0000269|PubMed:20027113,
ECO:0000269|PubMed:20574985,
ECO:0000269|PubMed:21922592}.
/FTId=VAR_064128.
VARIANT 234 234 G -> R (in CDSP).
{ECO:0000269|PubMed:20074989}.
/FTId=VAR_064129.
VARIANT 240 240 A -> T (associated with CDSP;
unclassified missense variant).
{ECO:0000269|PubMed:20574985}.
/FTId=VAR_064130.
VARIANT 242 242 G -> V (in CDSP; abolishes carnitine
transport; dbSNP:rs72552728).
{ECO:0000269|PubMed:11058897,
ECO:0000269|PubMed:15714519}.
/FTId=VAR_064131.
VARIANT 257 257 R -> W (in CDSP; dbSNP:rs386134203).
{ECO:0000269|PubMed:20574985}.
/FTId=VAR_064132.
VARIANT 264 264 T -> R (in CDSP; dbSNP:rs201262157).
{ECO:0000269|PubMed:20574985}.
/FTId=VAR_064133.
VARIANT 280 280 S -> F (in CDSP; reduces carnitine
transport; dbSNP:rs386134208).
{ECO:0000269|PubMed:21922592}.
/FTId=VAR_066844.
VARIANT 282 282 R -> Q (in CDSP; reduces carnitine
transport; dbSNP:rs386134210).
{ECO:0000269|PubMed:20074989,
ECO:0000269|PubMed:20574985,
ECO:0000269|PubMed:21922592}.
/FTId=VAR_064134.
VARIANT 283 283 W -> C (in CDSP; reduces L-carnitine
uptake; dbSNP:rs386134211).
{ECO:0000269|PubMed:10545605}.
/FTId=VAR_022565.
VARIANT 283 283 W -> R (in CDSP; reduces carnitine
transport; dbSNP:rs72552729).
{ECO:0000269|PubMed:10612840,
ECO:0000269|PubMed:21922592}.
/FTId=VAR_009254.
VARIANT 301 301 A -> D (in CDSP; has 2-3% residual
carnitine transport of the value measured
in cells expressing the wild-type
protein; dbSNP:rs72552730).
{ECO:0000269|PubMed:11058897,
ECO:0000269|PubMed:15714519}.
/FTId=VAR_064135.
VARIANT 312 312 I -> V (associated with CDSP;
unclassified missense variant;
dbSNP:rs77300588).
{ECO:0000269|PubMed:20574985}.
/FTId=VAR_064136.
VARIANT 351 351 W -> R (in CDSP; abolishes carnitine
transport; dbSNP:rs68018207).
{ECO:0000269|PubMed:11058897,
ECO:0000269|PubMed:15714519,
ECO:0000269|PubMed:21922592}.
/FTId=VAR_064137.
VARIANT 355 355 S -> L (in CDSP).
{ECO:0000269|PubMed:20574985}.
/FTId=VAR_064138.
VARIANT 358 358 Y -> N (associated with CDSP;
unclassified missense variant;
dbSNP:rs61731073).
{ECO:0000269|PubMed:20574985}.
/FTId=VAR_064139.
VARIANT 362 362 S -> L (in CDSP).
{ECO:0000269|PubMed:20074989}.
/FTId=VAR_064140.
VARIANT 398 398 P -> L (in CDSP; dbSNP:rs144547521).
{ECO:0000269|PubMed:20574985}.
/FTId=VAR_064141.
VARIANT 399 399 R -> Q (in CDSP; carnitine transport is
reduced to less than 5% of normal;
dbSNP:rs121908891).
{ECO:0000269|PubMed:11715001,
ECO:0000269|PubMed:15714519}.
/FTId=VAR_064142.
VARIANT 399 399 R -> W (in CDSP; dbSNP:rs267607054).
{ECO:0000269|PubMed:20027113,
ECO:0000269|PubMed:20574985}.
/FTId=VAR_064143.
VARIANT 440 440 T -> M (in CDSP; reduces carnitine
transport; dbSNP:rs72552732).
{ECO:0000269|PubMed:20574985,
ECO:0000269|PubMed:21922592}.
/FTId=VAR_064144.
VARIANT 442 442 A -> I (in CDSP; requires 2 nucleotide
substitutions; reduces carnitine
transport; dbSNP:rs267607053).
{ECO:0000269|PubMed:20027113,
ECO:0000269|PubMed:20574985,
ECO:0000269|PubMed:21922592}.
/FTId=VAR_064145.
VARIANT 443 443 F -> V (in CDSP).
{ECO:0000269|PubMed:20574985}.
/FTId=VAR_064146.
VARIANT 446 446 V -> F (in CDSP; reduces carnitine
transport; dbSNP:rs72552733).
{ECO:0000269|PubMed:10612840,
ECO:0000269|PubMed:21922592}.
/FTId=VAR_009255.
VARIANT 447 447 Y -> C (in CDSP; reduces carnitine
transport; dbSNP:rs386134218).
{ECO:0000269|PubMed:15714519,
ECO:0000269|PubMed:21922592}.
/FTId=VAR_064147.
VARIANT 449 449 Y -> D (in CDSP; dbSNP:rs11568514).
{ECO:0000269|PubMed:15714519,
ECO:0000269|PubMed:16931768,
ECO:0000269|PubMed:20574985}.
/FTId=VAR_029315.
VARIANT 452 452 E -> K (in CDSP; dbSNP:rs72552734).
{ECO:0000269|PubMed:10679939,
ECO:0000269|PubMed:15714519,
ECO:0000269|PubMed:20574985}.
/FTId=VAR_009256.
VARIANT 455 455 P -> R (in CDSP).
{ECO:0000269|PubMed:20574985}.
/FTId=VAR_064148.
VARIANT 467 467 S -> C (in CDSP; reduces L-carnitine
uptake; dbSNP:rs60376624).
{ECO:0000269|PubMed:10545605,
ECO:0000269|PubMed:17126586,
ECO:0000269|PubMed:20074989,
ECO:0000269|PubMed:20574985,
ECO:0000269|PubMed:21922592}.
/FTId=VAR_022566.
VARIANT 468 468 T -> R (in CDSP; markedly reduced
carnitine transport compared to the wild-
type protein; dbSNP:rs386134221).
{ECO:0000269|PubMed:15714519}.
/FTId=VAR_064149.
VARIANT 471 471 R -> C (in CDSP; dbSNP:rs749282641).
{ECO:0000269|PubMed:20074989}.
/FTId=VAR_064150.
VARIANT 471 471 R -> P (in CDSP; reduces carnitine
transport).
{ECO:0000269|PubMed:21922592}.
/FTId=VAR_066845.
VARIANT 478 478 P -> L (in CDSP; loss of carnitine
transport but stimulated organic cation
transport; dbSNP:rs72552735).
{ECO:0000269|PubMed:10072434,
ECO:0000269|PubMed:10559218}.
/FTId=VAR_009257.
VARIANT 481 481 V -> F (in dbSNP:rs11568513).
{ECO:0000269|PubMed:16931768}.
/FTId=VAR_020349.
VARIANT 481 481 V -> I (in dbSNP:rs11568513).
{ECO:0000269|PubMed:16931768}.
/FTId=VAR_036816.
VARIANT 488 488 R -> C (in CDSP; dbSNP:rs377216516).
{ECO:0000269|PubMed:17126586,
ECO:0000269|PubMed:20574985}.
/FTId=VAR_064151.
VARIANT 488 488 R -> H (in CDSP; reduces carnitine
transport; dbSNP:rs28383481).
{ECO:0000269|PubMed:21922592}.
/FTId=VAR_066846.
VARIANT 507 507 L -> S (in CDSP).
{ECO:0000269|PubMed:20574985}.
/FTId=VAR_064152.
VARIANT 508 508 F -> L (in dbSNP:rs11568521).
{ECO:0000269|PubMed:16931768}.
/FTId=VAR_029316.
VARIANT 530 530 M -> V (in dbSNP:rs11568524).
{ECO:0000269|PubMed:16931768}.
/FTId=VAR_029317.
VARIANT 549 549 P -> S (associated with CDSP;
unclassified missense variant;
dbSNP:rs11568525).
{ECO:0000269|PubMed:16931768,
ECO:0000269|PubMed:20574985}.
/FTId=VAR_020350.
MUTAGEN 352 352 M->R: Loss of both carnitine and organic
cation transport functionalities.
{ECO:0000269|PubMed:10559218}.
CONFLICT 114 114 L -> P (in Ref. 8; AAH12325).
{ECO:0000305}.
SEQUENCE 557 AA; 62752 MW; 928B1F6EFF63C48D CRC64;
MRDYDEVTAF LGEWGPFQRL IFFLLSASII PNGFTGLSSV FLIATPEHRC RVPDAANLSS
AWRNHTVPLR LRDGREVPHS CRRYRLATIA NFSALGLEPG RDVDLGQLEQ ESCLDGWEFS
QDVYLSTIVT EWNLVCEDDW KAPLTISLFF VGVLLGSFIS GQLSDRFGRK NVLFVTMGMQ
TGFSFLQIFS KNFEMFVVLF VLVGMGQISN YVAAFVLGTE ILGKSVRIIF STLGVCIFYA
FGYMVLPLFA YFIRDWRMLL VALTMPGVLC VALWWFIPES PRWLISQGRF EEAEVIIRKA
AKANGIVVPS TIFDPSELQD LSSKKQQSHN ILDLLRTWNI RMVTIMSIML WMTISVGYFG
LSLDTPNLHG DIFVNCFLSA MVEVPAYVLA WLLLQYLPRR YSMATALFLG GSVLLFMQLV
PPDLYYLATV LVMVGKFGVT AAFSMVYVYT AELYPTVVRN MGVGVSSTAS RLGSILSPYF
VYLGAYDRFL PYILMGSLTI LTAILTLFLP ESFGTPLPDT IDQMLRVKGM KHRKTPSHTR
MLKDGQERPT ILKSTAF


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EIAAB36710 High-affinity sodium-dependent carnitine cotransporter,Homo sapiens,Human,OCTN2,Organic cation_carnitine transporter 2,SLC22A5,Solute carrier family 22 member 5
EIAAB36742 Carnitine transporter 2,CT2,Flipt 2,FLIPT2,Fly-like putative transporter 2,Homo sapiens,Human,OCT6,Organic cation transporter OKB1,Organic cation_carnitine transporter 6,SLC22A16,Solute carrier family
18-003-43700 Solute carrier family 13 member 3 - Sodium-dependent high-affinity dicarboxylate transporter 2; Na(+)_dicarboxylate cotransporter 3; NaDC-3; hNaDC3 Polyclonal 0.1 mg Protein A
18-003-44256 Solute carrier family 13 member 3 - Sodium-dependent high-affinity dicarboxylate transporter 2; Na(+)_dicarboxylate cotransporter 3; NaDC-3; hNaDC3 Polyclonal 0.1 mg Protein A
EIAAB36611 mNaDC3,Mouse,Mus musculus,Na(+)_dicarboxylate cotransporter 3,Nadc3,NaDC-3,Sdct2,Slc13a3,Sodium-dependent high-affinity dicarboxylate transporter 2,Solute carrier family 13 member 3
EIAAB36612 Na(+)_dicarboxylate cotransporter 3,Nadc3,NaDC-3,Rat,Rattus norvegicus,rNaDC3,Sdct2,Slc13a3,Sodium-dependent high-affinity dicarboxylate transporter 2,Solute carrier family 13 member 3
EIAAB36613 hNaDC3,Homo sapiens,Human,Na(+)_dicarboxylate cotransporter 3,NADC3,NaDC-3,SDCT2,SLC13A3,Sodium-dependent high-affinity dicarboxylate transporter 2,Solute carrier family 13 member 3
EIAAB36700 Apical organic cation transporter,OCT2,Organic cation transporter 2,Pig,SLC22A2,Solute carrier family 22 member 2,Sus scrofa
EIAAB12307 Eaat4,Excitatory amino acid transporter 4,High-affinity neuronal glutamate transporter,Mouse,Mus musculus,Slc1a6,Sodium-dependent glutamate_aspartate transporter,Solute carrier family 1 member 6
EIAAB12308 Eaat4,Excitatory amino acid transporter 4,High-affinity neuronal glutamate transporter,Rat,Rattus norvegicus,Slc1a6,Sodium-dependent glutamate_aspartate transporter,Solute carrier family 1 member 6
E0658p ELISA kit High affinity sodium-glucose cotransporter,Na(+)_glucose cotransporter 1,Pig,SGLT1,SLC5A1,Sodium_glucose cotransporter 1,Solute carrier family 5 member 1,Sus scrofa 96T
E0658m ELISA High affinity sodium-glucose cotransporter,Mouse,Mus musculus,Na(+)_glucose cotransporter 1,Slc5a1,Sodium_glucose cotransporter 1,Solute carrier family 5 member 1 96T
E0658p ELISA High affinity sodium-glucose cotransporter,Na(+)_glucose cotransporter 1,Pig,SGLT1,SLC5A1,Sodium_glucose cotransporter 1,Solute carrier family 5 member 1,Sus scrofa 96T
U0658p CLIA High affinity sodium-glucose cotransporter,Na(+)_glucose cotransporter 1,Pig,SGLT1,SLC5A1,Sodium_glucose cotransporter 1,Solute carrier family 5 member 1,Sus scrofa 96T
U0658m CLIA High affinity sodium-glucose cotransporter,Mouse,Mus musculus,Na(+)_glucose cotransporter 1,Slc5a1,Sodium_glucose cotransporter 1,Solute carrier family 5 member 1 96T
E0658m ELISA kit High affinity sodium-glucose cotransporter,Mouse,Mus musculus,Na(+)_glucose cotransporter 1,Slc5a1,Sodium_glucose cotransporter 1,Solute carrier family 5 member 1 96T
U0658r CLIA High affinity sodium-glucose cotransporter,Na(+)_glucose cotransporter 1,Rat,Rattus norvegicus,Sglt1,Slc5a1,Sodium_glucose cotransporter 1,Solute carrier family 5 member 1 96T
E0658r ELISA kit High affinity sodium-glucose cotransporter,Na(+)_glucose cotransporter 1,Rat,Rattus norvegicus,Sglt1,Slc5a1,Sodium_glucose cotransporter 1,Solute carrier family 5 member 1 96T
E0658r ELISA High affinity sodium-glucose cotransporter,Na(+)_glucose cotransporter 1,Rat,Rattus norvegicus,Sglt1,Slc5a1,Sodium_glucose cotransporter 1,Solute carrier family 5 member 1 96T
U0658Rb CLIA High affinity sodium-glucose cotransporter,Na(+)_glucose cotransporter 1,Oryctolagus cuniculus,Rabbit,SGLT1,SLC5A1,Sodium_glucose cotransporter 1,Solute carrier family 5 member 1 96T
E0658Rb ELISA kit High affinity sodium-glucose cotransporter,Na(+)_glucose cotransporter 1,Oryctolagus cuniculus,Rabbit,SGLT1,SLC5A1,Sodium_glucose cotransporter 1,Solute carrier family 5 member 1 96T
E0658Rb ELISA High affinity sodium-glucose cotransporter,Na(+)_glucose cotransporter 1,Oryctolagus cuniculus,Rabbit,SGLT1,SLC5A1,Sodium_glucose cotransporter 1,Solute carrier family 5 member 1 96T
EIAAB39141 OAT-K1,OAT-K2,Oatp1a3,Rat,Rattus norvegicus,rOAT-K,Slc21a4,Slco1a3,Sodium-independent organic anion transporter K1,Solute carrier family 21 member 4,Solute carrier organic anion transporter family mem


 

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