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Mitochondrial folate transporter/carrier (Solute carrier family 25 member 32)

 MFTC_HUMAN              Reviewed;         315 AA.
Q9H2D1; Q96JZ6; Q96SU7;
11-FEB-2002, integrated into UniProtKB/Swiss-Prot.
22-AUG-2003, sequence version 2.
27-SEP-2017, entry version 141.
RecName: Full=Mitochondrial folate transporter/carrier;
AltName: Full=Solute carrier family 25 member 32;
Name=SLC25A32; Synonyms=MFT, MFTC;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA], AND VARIANT HIS-117.
PubMed=10978331; DOI=10.1074/jbc.M005163200;
Titus S.A., Moran R.G.;
"Retrovirally mediated complementation of the glyB phenotype. Cloning
of a human gene encoding the carrier for entry of folates into
mitochondria.";
J. Biol. Chem. 275:36811-36817(2000).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Placenta;
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).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Testis;
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).
[4]
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
PubMed=25944712; DOI=10.1002/pmic.201400617;
Vaca Jacome A.S., Rabilloud T., Schaeffer-Reiss C., Rompais M.,
Ayoub D., Lane L., Bairoch A., Van Dorsselaer A., Carapito C.;
"N-terminome analysis of the human mitochondrial proteome.";
Proteomics 15:2519-2524(2015).
[5]
INVOLVEMENT IN RREI, VARIANT RREI HIS-147, AND CHARACTERIZATION OF
VARIANT RREI HIS-147.
PubMed=26933868; DOI=10.1056/NEJMc1513610;
Schiff M., Veauville-Merllie A., Su C.H., Tzagoloff A., Rak M.,
Ogier de Baulny H., Boutron A., Smedts-Walters H., Romero N.B.,
Rigal O., Rustin P., Vianey-Saban C., Acquaviva-Bourdain C.;
"SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance.";
N. Engl. J. Med. 374:795-797(2016).
-!- FUNCTION: Transports folate across the inner membranes of
mitochondria.
-!- SUBCELLULAR LOCATION: Mitochondrion inner membrane; Multi-pass
membrane protein.
-!- TISSUE SPECIFICITY: Ubiquitous.
-!- DISEASE: Exercise intolerance, riboflavin-responsive (RREI)
[MIM:616839]: A riboflavin-responsive form of exercise
intolerance, a condition characterized by failure to maintain an
expected level of force during sustained or repeated muscle
contraction, resulting in an overwhelming sense of tiredness, lack
of energy and feeling of exhaustion. RREI transmission pattern is
consistent with autosomal recessive inheritance.
{ECO:0000269|PubMed:26933868}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- SIMILARITY: Belongs to the mitochondrial carrier (TC 2.A.29)
family. {ECO:0000305}.
-----------------------------------------------------------------------
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EMBL; AF283645; AAG37834.1; -; mRNA.
EMBL; AK027531; BAB55180.1; -; mRNA.
EMBL; AK027787; BAB55368.1; -; mRNA.
EMBL; BC021893; AAH21893.1; -; mRNA.
CCDS; CCDS6300.1; -.
RefSeq; NP_110407.2; NM_030780.4.
UniGene; Hs.532265; -.
UniGene; Hs.607819; -.
ProteinModelPortal; Q9H2D1; -.
SMR; Q9H2D1; -.
BioGrid; 123352; 24.
STRING; 9606.ENSP00000297578; -.
DrugBank; DB00158; Folic Acid.
TCDB; 2.A.29.10.2; the mitochondrial carrier (mc) family.
iPTMnet; Q9H2D1; -.
PhosphoSitePlus; Q9H2D1; -.
DMDM; 34223740; -.
EPD; Q9H2D1; -.
MaxQB; Q9H2D1; -.
PaxDb; Q9H2D1; -.
PeptideAtlas; Q9H2D1; -.
PRIDE; Q9H2D1; -.
DNASU; 81034; -.
Ensembl; ENST00000297578; ENSP00000297578; ENSG00000164933.
GeneID; 81034; -.
KEGG; hsa:81034; -.
UCSC; uc003yll.5; human.
CTD; 81034; -.
DisGeNET; 81034; -.
EuPathDB; HostDB:ENSG00000164933.11; -.
GeneCards; SLC25A32; -.
HGNC; HGNC:29683; SLC25A32.
HPA; HPA024763; -.
HPA; HPA047402; -.
MalaCards; SLC25A32; -.
MIM; 610815; gene.
MIM; 616839; phenotype.
neXtProt; NX_Q9H2D1; -.
OpenTargets; ENSG00000164933; -.
PharmGKB; PA142670905; -.
eggNOG; KOG0764; Eukaryota.
eggNOG; ENOG410XPAJ; LUCA.
GeneTree; ENSGT00770000120566; -.
HOGENOM; HOG000188210; -.
HOVERGEN; HBG101979; -.
InParanoid; Q9H2D1; -.
KO; K15115; -.
OMA; LRPKYKG; -.
OrthoDB; EOG091G0DLO; -.
PhylomeDB; Q9H2D1; -.
TreeFam; TF314217; -.
Reactome; R-HSA-196757; Metabolism of folate and pterines.
ChiTaRS; SLC25A32; human.
GenomeRNAi; 81034; -.
PRO; PR:Q9H2D1; -.
Proteomes; UP000005640; Chromosome 8.
Bgee; ENSG00000164933; -.
CleanEx; HS_SLC25A32; -.
ExpressionAtlas; Q9H2D1; baseline and differential.
Genevisible; Q9H2D1; HS.
GO; GO:0016021; C:integral component of membrane; IBA:GO_Central.
GO; GO:0005743; C:mitochondrial inner membrane; IBA:GO_Central.
GO; GO:0005739; C:mitochondrion; IDA:BHF-UCL.
GO; GO:0015230; F:FAD transmembrane transporter activity; IBA:GO_Central.
GO; GO:0008517; F:folic acid transporter activity; ISS:BHF-UCL.
GO; GO:1904947; P:folic acid import into mitochondrion; ISS:BHF-UCL.
GO; GO:0046655; P:folic acid metabolic process; TAS:Reactome.
GO; GO:0015884; P:folic acid transport; NAS:UniProtKB.
GO; GO:0006544; P:glycine metabolic process; IGI:BHF-UCL.
GO; GO:0006839; P:mitochondrial transport; IBA:GO_Central.
Gene3D; 1.50.40.10; -; 1.
InterPro; IPR002030; Mit_uncoupling_UCP-like.
InterPro; IPR018108; Mitochondrial_sb/sol_carrier.
InterPro; IPR023395; Mt_carrier_dom.
Pfam; PF00153; Mito_carr; 3.
PRINTS; PR00784; MTUNCOUPLING.
SUPFAM; SSF103506; SSF103506; 1.
PROSITE; PS50920; SOLCAR; 3.
1: Evidence at protein level;
Complete proteome; Disease mutation; Membrane; Mitochondrion;
Mitochondrion inner membrane; Polymorphism; Reference proteome;
Repeat; Transmembrane; Transmembrane helix; Transport.
CHAIN 1 315 Mitochondrial folate transporter/carrier.
/FTId=PRO_0000090641.
TRANSMEM 26 43 Helical; Name=1. {ECO:0000255}.
TRANSMEM 89 106 Helical; Name=2. {ECO:0000255}.
TRANSMEM 123 143 Helical; Name=3. {ECO:0000255}.
TRANSMEM 186 203 Helical; Name=4. {ECO:0000255}.
TRANSMEM 227 243 Helical; Name=5. {ECO:0000255}.
TRANSMEM 281 300 Helical; Name=6. {ECO:0000255}.
REPEAT 20 109 Solcar 1.
REPEAT 118 209 Solcar 2.
REPEAT 222 306 Solcar 3.
VARIANT 117 117 R -> H (in dbSNP:rs17803441).
{ECO:0000269|PubMed:10978331}.
/FTId=VAR_050130.
VARIANT 147 147 R -> H (in RREI; decreases succinate
dehydrogenase activity and glycerol-3-
phosphate dehydrogenase activity;
dbSNP:rs142329098).
{ECO:0000269|PubMed:26933868}.
/FTId=VAR_076364.
CONFLICT 306 306 F -> L (in Ref. 2; BAB55368).
{ECO:0000305}.
SEQUENCE 315 AA; 35407 MW; EED376828B4D1069 CRC64;
MTGQGQSASG SSAWSTVFRH VRYENLIAGV SGGVLSNLAL HPLDLVKIRF AVSDGLELRP
KYNGILHCLT TIWKLDGLRG LYQGVTPNIW GAGLSWGLYF FFYNAIKSYK TEGRAERLEA
TEYLVSAAEA GAMTLCITNP LWVTKTRLML QYDAVVNSPH RQYKGMFDTL VKIYKYEGVR
GLYKGFVPGL FGTSHGALQF MAYELLKLKY NQHINRLPEA QLSTVEYISV AALSKIFAVA
ATYPYQVVRA RLQDQHMFYS GVIDVITKTW RKEGVGGFYK GIAPNLIRVT PACCITFVVY
ENVSHFLLDL REKRK


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