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Choline transporter-like protein 4 (Solute carrier family 44 member 4) (Thiamine pyrophosphate transporter 1) (hTPPT1)

 CTL4_HUMAN              Reviewed;         710 AA.
Q53GD3; A2BED3; B0UXX8; B0UZY8; B4DU94; B4DWM2; E9PEK7; Q5JP84;
Q5JQ93; Q658S8; Q6UX89; Q8TEW4; Q96C58; Q96K59; Q9Y332;
30-AUG-2005, integrated into UniProtKB/Swiss-Prot.
02-NOV-2010, sequence version 2.
27-SEP-2017, entry version 119.
RecName: Full=Choline transporter-like protein 4 {ECO:0000303|PubMed:23651124};
AltName: Full=Solute carrier family 44 member 4 {ECO:0000312|HGNC:HGNC:13941};
AltName: Full=Thiamine pyrophosphate transporter 1 {ECO:0000303|PubMed:24379411};
Short=hTPPT1 {ECO:0000303|PubMed:24379411};
Name=SLC44A4 {ECO:0000312|HGNC:HGNC:13941};
Synonyms=C6orf29, CTL4 {ECO:0000303|PubMed:23651124}, NG22,
TPPT1 {ECO:0000303|PubMed:24379411}; ORFNames=UNQ441/PRO874;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 3 AND 4), AND
VARIANTS ILE-187 AND VAL-326.
TISSUE=Mammary gland, and Prostate;
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).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
PubMed=12975309; DOI=10.1101/gr.1293003;
Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S.,
Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J.,
Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J.,
Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A.,
Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H.,
Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D.,
Wood W.I., Godowski P.J., Gray A.M.;
"The secreted protein discovery initiative (SPDI), a large-scale
effort to identify novel human secreted and transmembrane proteins: a
bioinformatics assessment.";
Genome Res. 13:2265-2270(2003).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANTS
ILE-187 AND VAL-326.
TISSUE=Small intestine;
Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y.,
Tanaka A., Yokoyama S.;
Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases.
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANTS ILE-187
AND VAL-326.
PubMed=14656967; DOI=10.1101/gr.1736803;
Xie T., Rowen L., Aguado B., Ahearn M.E., Madan A., Qin S.,
Campbell R.D., Hood L.;
"Analysis of the gene-dense major histocompatibility complex class III
region and its comparison to mouse.";
Genome Res. 13:2621-2636(2003).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANTS ILE-187
AND VAL-326.
Shiina S., Tamiya G., Oka A., Inoko H.;
"Homo sapiens 2,229,817bp genomic DNA of 6p21.3 HLA class I region.";
Submitted (SEP-1999) to the EMBL/GenBank/DDBJ databases.
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANTS ILE-187
AND VAL-326.
PubMed=14574404; DOI=10.1038/nature02055;
Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E.,
Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R.,
Almeida J.P., Ambrose K.D., Andrews T.D., Ashwell R.I.S.,
Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J.,
Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P.,
Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y.,
Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E.,
Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A.,
Frankland J., French L., Garner P., Garnett J., Ghori M.J.,
Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M.,
Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S.,
Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R.,
Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E.,
Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A.,
Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C.,
Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M.,
Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K.,
McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T.,
Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R.,
Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W.,
Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M.,
Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L.,
Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J.,
Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B.,
Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L.,
Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W.,
Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A.,
Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.;
"The DNA sequence and analysis of human chromosome 6.";
Nature 425:805-811(2003).
[7]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANTS ILE-187
AND VAL-326.
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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
[8]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANTS
GLU-128; ILE-187 AND VAL-326.
TISSUE=Colon;
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]
NUCLEOTIDE SEQUENCE [MRNA] OF 1-308 (ISOFORM 1), CHROMOSOMAL
REARRANGEMENT WITH NEU1, AND VARIANT ILE-187.
PubMed=12067718; DOI=10.1016/S0014-5793(02)02748-5;
Uhl J., Penzel R., Sergi C., Kopitz J., Otto H.F., Cantz M.;
"Identification of a CTL4/Neu1 fusion transcript in a sialidosis
patient.";
FEBS Lett. 521:19-23(2002).
[10]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 81-710 (ISOFORMS 1/3).
TISSUE=Stomach;
PubMed=17974005; DOI=10.1186/1471-2164-8-399;
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H.,
Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K.,
Ottenwaelder B., Poustka A., Wiemann S., Schupp I.;
"The full-ORF clone resource of the German cDNA consortium.";
BMC Genomics 8:399-399(2007).
[11]
IDENTIFICATION, AND NOMENCLATURE.
PubMed=10677542; DOI=10.1073/pnas.030339697;
O'Regan S., Traiffort E., Ruat M., Cha N., Compaore D., Meunier F.-M.;
"An electric lobe suppressor for a yeast choline transport mutation
belongs to a new family of transporter-like proteins.";
Proc. Natl. Acad. Sci. U.S.A. 97:1835-1840(2000).
[12]
FUNCTION.
PubMed=23651124; DOI=10.1111/jnc.12298;
Song P., Rekow S.S., Singleton C.A., Sekhon H.S., Dissen G.A.,
Zhou M., Campling B., Lindstrom J., Spindel E.R.;
"Choline transporter-like protein 4 (CTL4) links to non-neuronal
acetylcholine synthesis.";
J. Neurochem. 126:451-461(2013).
[13]
FUNCTION, FUNCTION (ISOFORM 3), TISSUE SPECIFICITY, SUBCELLULAR
LOCATION, BIOPHYSICOCHEMICAL PROPERTIES, AND ALTERNATIVE SPLICING.
PubMed=24379411; DOI=10.1074/jbc.M113.528257;
Nabokina S.M., Inoue K., Subramanian V.S., Valle J.E., Yuasa H.,
Said H.M.;
"Molecular identification and functional characterization of the human
colonic thiamine pyrophosphate transporter.";
J. Biol. Chem. 289:4405-4416(2014).
[14]
FUNCTION, GLYCOSYLATION AT ASN-69; ASN-155; ASN-197 AND ASN-416,
MUTAGENESIS OF ASN-29; ASN-69; ASN-155; ASN-197; ASN-298; ASN-393;
ASN-409 AND ASN-416, AND SUBCELLULAR LOCATION.
PubMed=26828122; DOI=10.1016/j.bbamem.2016.01.028;
Nabokina S.M., Subramanian V.S., Said H.M.;
"The human colonic thiamine pyrophosphate transporter (hTPPT) is a
glycoprotein and N-linked glycosylation is important for its
function.";
Biochim. Biophys. Acta 1858:866-871(2016).
[15]
VARIANTS [LARGE SCALE ANALYSIS] THR-347 AND MET-411.
PubMed=16959974; DOI=10.1126/science.1133427;
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S.,
Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J.,
Dawson D., Willson J.K.V., Gazdar A.F., Hartigan J., Wu L., Liu C.,
Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N.,
Vogelstein B., Kinzler K.W., Velculescu V.E.;
"The consensus coding sequences of human breast and colorectal
cancers.";
Science 314:268-274(2006).
[16]
VARIANTS LEU-6; VAL-123; ILE-187; VAL-326 AND SER-397, AND
CHARACTERIZATION OF VARIANTS LEU-6; VAL-123 AND SER-397.
PubMed=26741288; DOI=10.1038/gene.2015.53;
Gupta A., Thelma B.K.;
"Identification of critical variants within SLC44A4, an ulcerative
colitis susceptibility gene identified in a GWAS in north Indians.";
Genes Immun. 17:105-109(2016).
[17]
FUNCTION, INVOLVEMENT IN DISEASE, VARIANT VAL-156, AND
CHARACTERIZATION OF VARIANT VAL-156.
PubMed=28013291; DOI=10.1093/hmg/ddw394;
Ma Z., Xia W., Liu F., Ma J., Sun S., Zhang J., Jiang N., Wang X.,
Hu J., Ma D.;
"SLC44A4 mutation causes autosomal dominant hereditary postlingual
non-syndromic mid-frequency hearing loss.";
Hum. Mol. Genet. 26:383-394(2017).
-!- FUNCTION: Choline transporter that plays a role in the choline-
acetylcholine system and is required to the efferent innervation
of hair cells in the olivocochlear bundle for the maintenance of
physiological function of outer hair cells and the protection of
hair cells from acoustic injury (By similarity) (PubMed:23651124,
PubMed:28013291). Also described as a thiamine pyrophosphate
transporter in colon, may mediate the absorption of microbiota-
generated thiamine pyrophosphate and contribute to host thiamine
(vitamin B1) homeostasis (PubMed:24379411).
{ECO:0000250|UniProtKB:Q7T2B0, ECO:0000269|PubMed:23651124,
ECO:0000269|PubMed:24379411, ECO:0000269|PubMed:28013291}.
-!- FUNCTION: Isoform 3: Has also thiamine pyrophosphate transporter
activity. {ECO:0000269|PubMed:24379411}.
-!- BIOPHYSICOCHEMICAL PROPERTIES:
Kinetic parameters:
KM=0.17 uM for thiamine pyrophosphate
{ECO:0000269|PubMed:24379411};
Vmax=18.19 pmol/min/mg enzyme {ECO:0000269|PubMed:24379411};
-!- SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:24379411,
ECO:0000269|PubMed:26828122}; Multi-pass membrane protein
{ECO:0000305|PubMed:24379411, ECO:0000305|PubMed:26828122}. Apical
cell membrane {ECO:0000269|PubMed:24379411}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=4;
Name=1;
IsoId=Q53GD3-1; Sequence=Displayed;
Name=2;
IsoId=Q53GD3-2; Sequence=VSP_030998;
Note=No experimental confirmation available.;
Name=3;
IsoId=Q53GD3-3; Sequence=VSP_046236;
Note=No experimental confirmation available.;
Name=4;
IsoId=Q53GD3-4; Sequence=VSP_046821;
-!- TISSUE SPECIFICITY: Highly expressed in colon, also detected in
prostate, trachea and lung (PubMed:24379411). Isoform 3 is also
expressed in colon but a lower levels (PubMed:24379411).
{ECO:0000269|PubMed:24379411}.
-!- PTM: N-glycosylated; N-glycosylation of Asn-69, Asn-155 and Asn-
393 is required for a proper thiamine pyrophosphate uptake.
{ECO:0000269|PubMed:26828122}.
-!- DISEASE: Note=An interstitial deletion causing the fusion of exon
10 of CTL4 with the 3'-UTR of NEU has been detected in two
patients affected by sialidosis.
-!- DISEASE: Note=Mutations in this gene have been associated with
autosomal dominant hereditary postlingual non-syndromic mid-
frequency hearing loss. {ECO:0000269|PubMed:28013291}.
-!- SIMILARITY: Belongs to the CTL (choline transporter-like) family.
{ECO:0000305}.
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EMBL; AK027397; BAB55083.1; -; mRNA.
EMBL; AK300550; BAG62256.1; -; mRNA.
EMBL; AK301596; BAG63084.1; -; mRNA.
EMBL; AY358457; AAQ88822.1; -; mRNA.
EMBL; AK222998; BAD96718.1; -; mRNA.
EMBL; AF134726; AAD21813.1; -; Genomic_DNA.
EMBL; BA000025; BAB63296.1; -; Genomic_DNA.
EMBL; AL662834; CAI17744.1; -; Genomic_DNA.
EMBL; AL671762; CAI18223.2; -; Genomic_DNA.
EMBL; AL844853; CAI41851.1; -; Genomic_DNA.
EMBL; BX005460; CAM26148.1; -; Genomic_DNA.
EMBL; CR936237; CAQ09154.1; -; Genomic_DNA.
EMBL; CR759784; CAQ09306.1; -; Genomic_DNA.
EMBL; CR388202; CAQ09513.1; -; Genomic_DNA.
EMBL; CH471081; EAX03538.1; -; Genomic_DNA.
EMBL; BC014659; AAH14659.1; -; mRNA.
EMBL; AF466766; AAL75992.1; -; mRNA.
EMBL; AL833009; CAH56275.1; -; mRNA.
CCDS; CCDS4724.2; -. [Q53GD3-1]
CCDS; CCDS54989.1; -. [Q53GD3-3]
CCDS; CCDS54990.1; -. [Q53GD3-4]
RefSeq; NP_001171515.1; NM_001178044.1. [Q53GD3-4]
RefSeq; NP_001171516.1; NM_001178045.1. [Q53GD3-3]
RefSeq; NP_079533.2; NM_025257.2. [Q53GD3-1]
UniGene; Hs.335355; -.
ProteinModelPortal; Q53GD3; -.
STRING; 9606.ENSP00000229729; -.
DrugBank; DB00122; Choline.
TCDB; 2.A.92.1.7; the choline transporter-like (ctl) family.
iPTMnet; Q53GD3; -.
PhosphoSitePlus; Q53GD3; -.
BioMuta; CTL4; -.
DMDM; 311033368; -.
MaxQB; Q53GD3; -.
PaxDb; Q53GD3; -.
PeptideAtlas; Q53GD3; -.
PRIDE; Q53GD3; -.
Ensembl; ENST00000229729; ENSP00000229729; ENSG00000204385. [Q53GD3-1]
Ensembl; ENST00000375562; ENSP00000364712; ENSG00000204385. [Q53GD3-4]
Ensembl; ENST00000383379; ENSP00000372870; ENSG00000206378. [Q53GD3-1]
Ensembl; ENST00000415517; ENSP00000414120; ENSG00000229077.
Ensembl; ENST00000417894; ENSP00000389244; ENSG00000235336.
Ensembl; ENST00000425238; ENSP00000399161; ENSG00000228263. [Q53GD3-1]
Ensembl; ENST00000442152; ENSP00000398852; ENSG00000232180.
Ensembl; ENST00000453831; ENSP00000393939; ENSG00000231479. [Q53GD3-1]
Ensembl; ENST00000544672; ENSP00000444109; ENSG00000204385. [Q53GD3-3]
Ensembl; ENST00000546461; ENSP00000449039; ENSG00000231479. [Q53GD3-3]
Ensembl; ENST00000547493; ENSP00000449232; ENSG00000229077.
Ensembl; ENST00000547684; ENSP00000449180; ENSG00000206378. [Q53GD3-3]
Ensembl; ENST00000548188; ENSP00000447560; ENSG00000228263. [Q53GD3-3]
Ensembl; ENST00000549663; ENSP00000449642; ENSG00000228263. [Q53GD3-4]
Ensembl; ENST00000549677; ENSP00000449518; ENSG00000206378. [Q53GD3-4]
Ensembl; ENST00000550401; ENSP00000448474; ENSG00000235336.
Ensembl; ENST00000551168; ENSP00000448088; ENSG00000231479. [Q53GD3-4]
Ensembl; ENST00000553121; ENSP00000447704; ENSG00000232180.
GeneID; 80736; -.
KEGG; hsa:80736; -.
UCSC; uc010jti.4; human. [Q53GD3-1]
CTD; 80736; -.
DisGeNET; 80736; -.
EuPathDB; HostDB:ENSG00000204385.10; -.
GeneCards; SLC44A4; -.
H-InvDB; HIX0166072; -.
H-InvDB; HIX0166339; -.
H-InvDB; HIX0167126; -.
H-InvDB; HIX0184154; -.
HGNC; HGNC:13941; SLC44A4.
HPA; HPA046977; -.
HPA; HPA054176; -.
MIM; 606107; gene.
neXtProt; NX_Q53GD3; -.
OpenTargets; ENSG00000204385; -.
PharmGKB; PA25930; -.
eggNOG; KOG1362; Eukaryota.
eggNOG; ENOG410XS0P; LUCA.
GeneTree; ENSGT00550000074521; -.
HOGENOM; HOG000007110; -.
HOVERGEN; HBG062155; -.
InParanoid; Q53GD3; -.
KO; K15377; -.
OMA; NYYWLPI; -.
OrthoDB; EOG091G04CQ; -.
PhylomeDB; Q53GD3; -.
TreeFam; TF313325; -.
Reactome; R-HSA-1483191; Synthesis of PC.
Reactome; R-HSA-425366; Transport of bile salts and organic acids, metal ions and amine compounds.
ChiTaRS; SLC44A4; human.
GeneWiki; SLC44A4; -.
GenomeRNAi; 80736; -.
PRO; PR:Q53GD3; -.
Proteomes; UP000005640; Chromosome 6.
Bgee; ENSG00000204385; -.
ExpressionAtlas; Q53GD3; baseline and differential.
Genevisible; Q53GD3; HS.
GO; GO:0016324; C:apical plasma membrane; IDA:UniProtKB.
GO; GO:0070062; C:extracellular exosome; IDA:UniProtKB.
GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
GO; GO:0005886; C:plasma membrane; IDA:UniProtKB.
GO; GO:0015220; F:choline transmembrane transporter activity; IMP:UniProtKB.
GO; GO:0090422; F:thiamine pyrophosphate transporter activity; IMP:UniProtKB.
GO; GO:0008292; P:acetylcholine biosynthetic process; IMP:UniProtKB.
GO; GO:0061526; P:acetylcholine secretion; IMP:UniProtKB.
GO; GO:0015871; P:choline transport; IMP:UniProtKB.
GO; GO:0035675; P:neuromast hair cell development; ISS:UniProtKB.
GO; GO:0032475; P:otolith formation; ISS:UniProtKB.
GO; GO:0006656; P:phosphatidylcholine biosynthetic process; TAS:Reactome.
GO; GO:0030307; P:positive regulation of cell growth; IMP:UniProtKB.
GO; GO:0030974; P:thiamine pyrophosphate transport; IDA:UniProtKB.
GO; GO:0055085; P:transmembrane transport; TAS:Reactome.
InterPro; IPR007603; Choline_transptr-like.
PANTHER; PTHR12385; PTHR12385; 1.
Pfam; PF04515; Choline_transpo; 1.
1: Evidence at protein level;
Alternative splicing; Cell membrane; Complete proteome; Glycoprotein;
Membrane; Polymorphism; Reference proteome; Transmembrane;
Transmembrane helix.
CHAIN 1 710 Choline transporter-like protein 4.
/FTId=PRO_0000191723.
TOPO_DOM 1 34 Cytoplasmic. {ECO:0000255}.
TRANSMEM 35 55 Helical. {ECO:0000255}.
TOPO_DOM 56 229 Extracellular. {ECO:0000255}.
TRANSMEM 230 250 Helical. {ECO:0000255}.
TOPO_DOM 251 252 Cytoplasmic. {ECO:0000255}.
TRANSMEM 253 273 Helical. {ECO:0000255}.
TOPO_DOM 274 309 Extracellular. {ECO:0000255}.
TRANSMEM 310 330 Helical. {ECO:0000255}.
TOPO_DOM 331 358 Cytoplasmic. {ECO:0000255}.
TRANSMEM 359 379 Helical. {ECO:0000255}.
TOPO_DOM 380 455 Extracellular. {ECO:0000255}.
TRANSMEM 456 476 Helical. {ECO:0000255}.
TOPO_DOM 477 501 Cytoplasmic. {ECO:0000255}.
TRANSMEM 502 522 Helical. {ECO:0000255}.
TOPO_DOM 523 560 Extracellular. {ECO:0000255}.
TRANSMEM 561 581 Helical. {ECO:0000255}.
TOPO_DOM 582 597 Cytoplasmic. {ECO:0000255}.
TRANSMEM 598 618 Helical. {ECO:0000255}.
TOPO_DOM 619 638 Extracellular. {ECO:0000255}.
TRANSMEM 639 659 Helical. {ECO:0000255}.
TOPO_DOM 660 710 Cytoplasmic. {ECO:0000255}.
SITE 308 308 Breakpoint for translocation with NEU1.
CARBOHYD 69 69 N-linked (GlcNAc...) asparagine.
{ECO:0000269|PubMed:26828122}.
CARBOHYD 155 155 N-linked (GlcNAc...) asparagine.
{ECO:0000269|PubMed:26828122}.
CARBOHYD 197 197 N-linked (GlcNAc...) asparagine.
{ECO:0000269|PubMed:26828122}.
CARBOHYD 298 298 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 393 393 N-linked (GlcNAc...) asparagine.
{ECO:0000269|PubMed:26828122}.
CARBOHYD 405 405 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 416 416 N-linked (GlcNAc...) asparagine.
{ECO:0000269|PubMed:26828122}.
VAR_SEQ 1 422 Missing (in isoform 2).
{ECO:0000303|PubMed:12975309}.
/FTId=VSP_030998.
VAR_SEQ 1 76 Missing (in isoform 3).
{ECO:0000303|PubMed:14702039}.
/FTId=VSP_046236.
VAR_SEQ 115 156 Missing (in isoform 4).
{ECO:0000303|PubMed:14702039}.
/FTId=VSP_046821.
VARIANT 6 6 R -> L (polymorphism; no effect on
thiamine pyrophosphate transporter
activity; dbSNP:rs2075798).
{ECO:0000269|PubMed:26741288}.
/FTId=VAR_023406.
VARIANT 123 123 D -> V (polymorphism; no effect on
thiamine pyrophosphate transporter
activity; dbSNP:rs12661281).
{ECO:0000269|PubMed:26741288}.
/FTId=VAR_047020.
VARIANT 128 128 G -> E (in dbSNP:rs17856465).
{ECO:0000269|PubMed:15489334}.
/FTId=VAR_047021.
VARIANT 156 156 M -> V (probable disease-associated
mutation found in patients with autosomal
dominant hereditary postlingual non-
syndromic mid-frequency hearing loss;
decreases choline transmembrane
transporter activity).
{ECO:0000269|PubMed:28013291}.
/FTId=VAR_078848.
VARIANT 187 187 V -> I (in dbSNP:rs2242665).
{ECO:0000269|PubMed:12067718,
ECO:0000269|PubMed:14574404,
ECO:0000269|PubMed:14656967,
ECO:0000269|PubMed:14702039,
ECO:0000269|PubMed:15489334,
ECO:0000269|PubMed:26741288,
ECO:0000269|Ref.3, ECO:0000269|Ref.5,
ECO:0000269|Ref.7}.
/FTId=VAR_023407.
VARIANT 326 326 M -> V (in dbSNP:rs644827).
{ECO:0000269|PubMed:14574404,
ECO:0000269|PubMed:14656967,
ECO:0000269|PubMed:14702039,
ECO:0000269|PubMed:15489334,
ECO:0000269|PubMed:26741288,
ECO:0000269|Ref.3, ECO:0000269|Ref.5,
ECO:0000269|Ref.7}.
/FTId=VAR_023408.
VARIANT 347 347 A -> T (in a colorectal cancer sample;
somatic mutation).
{ECO:0000269|PubMed:16959974}.
/FTId=VAR_036210.
VARIANT 397 397 P -> S (polymorphism; no effect on
thiamine pyrophosphate transporter
activity; dbSNP:rs116706632).
{ECO:0000269|PubMed:26741288}.
/FTId=VAR_078849.
VARIANT 411 411 T -> M (in a colorectal cancer sample;
somatic mutation; dbSNP:rs563426936).
{ECO:0000269|PubMed:16959974}.
/FTId=VAR_036211.
VARIANT 493 493 R -> C (in dbSNP:rs6915800).
/FTId=VAR_023409.
MUTAGEN 29 29 N->D: No effect on glycosylation.
{ECO:0000269|PubMed:26828122}.
MUTAGEN 69 69 N->D: Decreases gylcosylation levels.
Decreases thiamine pyrophosphate uptake.
{ECO:0000269|PubMed:26828122}.
MUTAGEN 155 155 N->D: Decreases gylcosylation levels.
Decreases thiamine pyrophosphate uptake.
{ECO:0000269|PubMed:26828122}.
MUTAGEN 197 197 N->D: Decreases gylcosylation levels. No
effect on thiamine pyrophosphate uptake.
{ECO:0000269|PubMed:26828122}.
MUTAGEN 298 298 N->D: No effect on glycosylation.
{ECO:0000269|PubMed:26828122}.
MUTAGEN 393 393 N->D: Decreases gylcosylation levels.
Decreases thiamine pyrophosphate uptake.
{ECO:0000269|PubMed:26828122}.
MUTAGEN 409 409 N->D: No effect on glycosylation.
{ECO:0000269|PubMed:26828122}.
MUTAGEN 416 416 N->D: Decreases gylcosylation levels. No
effect on thiamine pyrophosphate uptake.
{ECO:0000269|PubMed:26828122}.
CONFLICT 117 118 Missing (in Ref. 10; CAH56275).
{ECO:0000305}.
CONFLICT 144 145 NR -> SS (in Ref. 1; BAB55083).
{ECO:0000305}.
CONFLICT 379 386 LATSGQPQ -> PLPTQPATLG (in Ref. 4;
AAD21813 and 5; BAB63296). {ECO:0000305}.
CONFLICT 636 636 Missing (in Ref. 8; AAH14659).
{ECO:0000305}.
SEQUENCE 710 AA; 79254 MW; 4DE5B45574C408AD CRC64;
MGGKQRDEDD EAYGKPVKYD PSFRGPIKNR SCTDVICCVL FLLFILGYIV VGIVAWLYGD
PRQVLYPRNS TGAYCGMGEN KDKPYLLYFN IFSCILSSNI ISVAENGLQC PTPQVCVSSC
PEDPWTVGKN EFSQTVGEVF YTKNRNFCLP GVPWNMTVIT SLQQELCPSF LLPSAPALGR
CFPWTNVTPP ALPGITNDTT IQQGISGLID SLNARDISVK IFEDFAQSWY WILVALGVAL
VLSLLFILLL RLVAGPLVLV LILGVLGVLA YGIYYCWEEY RVLRDKGASI SQLGFTTNLS
AYQSVQETWL AALIVLAVLE AILLLMLIFL RQRIRIAIAL LKEASKAVGQ MMSTMFYPLV
TFVLLLICIA YWAMTALYLA TSGQPQYVLW ASNISSPGCE KVPINTSCNP TAHLVNSSCP
GLMCVFQGYS SKGLIQRSVF NLQIYGVLGL FWTLNWVLAL GQCVLAGAFA SFYWAFHKPQ
DIPTFPLISA FIRTLRYHTG SLAFGALILT LVQIARVILE YIDHKLRGVQ NPVARCIMCC
FKCCLWCLEK FIKFLNRNAY IMIAIYGKNF CVSAKNAFML LMRNIVRVVV LDKVTDLLLF
FGKLLVVGGV GVLSFFFFSG RIPGLGKDFK SPHLNYYWLP IMTSILGAYV IASGFFSVFG
MCVDTLFLCF LEDLERNNGS LDRPYYMSKS LLKILGKKNE APPDNKKRKK


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