FUCT1_HUMAN
ID FUCT1_HUMAN Reviewed; 364 AA.
AC Q96A29; B2RDB2; Q9BV76; Q9NUJ8;
DT 23-JAN-2002, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2001, sequence version 1.
DT 03-AUG-2022, entry version 176.
DE RecName: Full=GDP-fucose transporter 1;
DE AltName: Full=Solute carrier family 35 member C1;
GN Name=SLC35C1; Synonyms=FUCT1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), CHARACTERIZATION, AND VARIANT CDG2C
RP CYS-147.
RX PubMed=11326279; DOI=10.1038/ng0501-69;
RA Luehn K., Wild M.K., Eckhardt M., Gerardy-Schahn R., Vestweber D.;
RT "The gene defective in leukocyte adhesion deficiency II encodes a putative
RT GDP-fucose transporter.";
RL Nat. Genet. 28:69-72(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANTS CDG2C CYS-147 AND
RP ARG-308.
RX PubMed=11326280; DOI=10.1038/ng0501-73;
RA Luebke T., Marquardt T., Etzioni A., Hartmann E., von Figura K.,
RA Koerner C.;
RT "Complementation cloning identifies CDG-IIc, a new type of congenital
RT disorders of glycosylation, as a GDP-fucose transporter deficiency.";
RL Nat. Genet. 28:73-76(2001).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Mammary gland, and Placenta;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16554811; DOI=10.1038/nature04632;
RA Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K.,
RA Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T.,
RA Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G.,
RA Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C.,
RA Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A.,
RA Hattori M., Rogers J., Lander E.S., Sakaki Y.;
RT "Human chromosome 11 DNA sequence and analysis including novel gene
RT identification.";
RL Nature 440:497-500(2006).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT SER-49.
RC TISSUE=Placenta;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- FUNCTION: Involved in GDP-fucose import from the cytoplasm into the
CC Golgi lumen.
CC -!- SUBCELLULAR LOCATION: Golgi apparatus membrane; Multi-pass membrane
CC protein.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q96A29-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96A29-2; Sequence=VSP_047116;
CC -!- DISEASE: Congenital disorder of glycosylation 2C (CDG2C) [MIM:266265]:
CC A multisystem disorder caused by a defect in glycoprotein biosynthesis
CC and characterized by under-glycosylated serum glycoproteins. Congenital
CC disorders of glycosylation result in a wide variety of clinical
CC features, such as defects in the nervous system development,
CC psychomotor retardation, dysmorphic features, hypotonia, coagulation
CC disorders, and immunodeficiency. The broad spectrum of features
CC reflects the critical role of N-glycoproteins during embryonic
CC development, differentiation, and maintenance of cell functions. The
CC clinical features of CDG2C include intellectual disability, short
CC stature, facial stigmata, and recurrent bacterial peripheral infections
CC with persistently elevated peripheral leukocytes. Biochemically, CDG2C
CC is characterized by a lack of fucosylated glycoconjugates, including
CC selectin ligands. {ECO:0000269|PubMed:11326279,
CC ECO:0000269|PubMed:11326280}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the TPT transporter family. SLC35C subfamily.
CC {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA92126.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC -!- WEB RESOURCE: Name=SLC35C1base; Note=SLC35C1 mutation db;
CC URL="http://structure.bmc.lu.se/idbase/SLC35C1base/";
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DR EMBL; AF323970; AAK50397.1; -; mRNA.
DR EMBL; AF326199; AAK51705.1; -; mRNA.
DR EMBL; AK027394; BAB55080.1; -; mRNA.
DR EMBL; AK002182; BAA92126.1; ALT_INIT; mRNA.
DR EMBL; AK315473; BAG37859.1; -; mRNA.
DR EMBL; AC044839; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471064; EAW68031.1; -; Genomic_DNA.
DR EMBL; BC001427; AAH01427.2; -; mRNA.
DR CCDS; CCDS44575.1; -. [Q96A29-2]
DR CCDS; CCDS7914.1; -. [Q96A29-1]
DR RefSeq; NP_001138737.1; NM_001145265.1. [Q96A29-2]
DR RefSeq; NP_001138738.1; NM_001145266.1. [Q96A29-2]
DR RefSeq; NP_060859.4; NM_018389.4. [Q96A29-1]
DR AlphaFoldDB; Q96A29; -.
DR SMR; Q96A29; -.
DR BioGRID; 120624; 9.
DR IntAct; Q96A29; 2.
DR STRING; 9606.ENSP00000313318; -.
DR TCDB; 2.A.7.16.1; the drug/metabolite transporter (dmt) superfamily.
DR iPTMnet; Q96A29; -.
DR PhosphoSitePlus; Q96A29; -.
DR SwissPalm; Q96A29; -.
DR BioMuta; SLC35C1; -.
DR DMDM; 20138280; -.
DR jPOST; Q96A29; -.
DR MassIVE; Q96A29; -.
DR MaxQB; Q96A29; -.
DR PaxDb; Q96A29; -.
DR PeptideAtlas; Q96A29; -.
DR PRIDE; Q96A29; -.
DR ProteomicsDB; 3427; -.
DR ProteomicsDB; 75900; -. [Q96A29-1]
DR Antibodypedia; 13252; 64 antibodies from 20 providers.
DR DNASU; 55343; -.
DR Ensembl; ENST00000314134.4; ENSP00000313318.3; ENSG00000181830.9. [Q96A29-1]
DR Ensembl; ENST00000442528.2; ENSP00000412408.2; ENSG00000181830.9. [Q96A29-2]
DR GeneID; 55343; -.
DR KEGG; hsa:55343; -.
DR MANE-Select; ENST00000314134.4; ENSP00000313318.3; NM_018389.5; NP_060859.4.
DR UCSC; uc001nbo.4; human. [Q96A29-1]
DR CTD; 55343; -.
DR DisGeNET; 55343; -.
DR GeneCards; SLC35C1; -.
DR HGNC; HGNC:20197; SLC35C1.
DR HPA; ENSG00000181830; Tissue enhanced (liver).
DR MalaCards; SLC35C1; -.
DR MIM; 266265; phenotype.
DR MIM; 605881; gene.
DR neXtProt; NX_Q96A29; -.
DR OpenTargets; ENSG00000181830; -.
DR Orphanet; 99843; Leukocyte adhesion deficiency type II.
DR PharmGKB; PA134930330; -.
DR VEuPathDB; HostDB:ENSG00000181830; -.
DR eggNOG; KOG1442; Eukaryota.
DR GeneTree; ENSGT00390000013315; -.
DR HOGENOM; CLU_044894_1_0_1; -.
DR InParanoid; Q96A29; -.
DR OMA; GLQIKYT; -.
DR PhylomeDB; Q96A29; -.
DR TreeFam; TF354269; -.
DR PathwayCommons; Q96A29; -.
DR Reactome; R-HSA-5619078; Defective SLC35C1 causes congenital disorder of glycosylation 2C (CDG2C).
DR Reactome; R-HSA-6787639; GDP-fucose biosynthesis.
DR Reactome; R-HSA-727802; Transport of nucleotide sugars.
DR SignaLink; Q96A29; -.
DR BioGRID-ORCS; 55343; 30 hits in 1077 CRISPR screens.
DR ChiTaRS; SLC35C1; human.
DR GeneWiki; SLC35C1; -.
DR GenomeRNAi; 55343; -.
DR Pharos; Q96A29; Tbio.
DR PRO; PR:Q96A29; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q96A29; protein.
DR Bgee; ENSG00000181830; Expressed in lower esophagus mucosa and 174 other tissues.
DR ExpressionAtlas; Q96A29; baseline and differential.
DR Genevisible; Q96A29; HS.
DR GO; GO:0005794; C:Golgi apparatus; IDA:HPA.
DR GO; GO:0000139; C:Golgi membrane; TAS:Reactome.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0015297; F:antiporter activity; IBA:GO_Central.
DR GO; GO:0005457; F:GDP-fucose transmembrane transporter activity; IBA:GO_Central.
DR GO; GO:0008643; P:carbohydrate transport; IEA:UniProtKB-KW.
DR GO; GO:0036085; P:GDP-fucose import into Golgi lumen; IBA:GO_Central.
DR GO; GO:0030259; P:lipid glycosylation; IEA:Ensembl.
DR GO; GO:0045746; P:negative regulation of Notch signaling pathway; IEA:Ensembl.
DR GO; GO:0036066; P:protein O-linked fucosylation; IBA:GO_Central.
DR InterPro; IPR029666; GDP-fucose_transp.
DR InterPro; IPR004853; Sugar_P_trans_dom.
DR PANTHER; PTHR11132:SF255; PTHR11132:SF255; 1.
DR Pfam; PF03151; TPT; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Congenital disorder of glycosylation;
KW Disease variant; Golgi apparatus; Membrane; Reference proteome;
KW Sugar transport; Transmembrane; Transmembrane helix; Transport.
FT CHAIN 1..364
FT /note="GDP-fucose transporter 1"
FT /id="PRO_0000213391"
FT TRANSMEM 34..56
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 76..98
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 111..130
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 140..162
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 167..185
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 195..214
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 227..249
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 264..286
FT /note="Helical"
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..13
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_047116"
FT VARIANT 49
FT /note="W -> S (in dbSNP:rs11538193)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_057302"
FT VARIANT 147
FT /note="R -> C (in CDG2C; dbSNP:rs28939087)"
FT /evidence="ECO:0000269|PubMed:11326279,
FT ECO:0000269|PubMed:11326280"
FT /id="VAR_012347"
FT VARIANT 240
FT /note="I -> V (in dbSNP:rs7130656)"
FT /id="VAR_057303"
FT VARIANT 308
FT /note="T -> R (in CDG2C; dbSNP:rs28937886)"
FT /evidence="ECO:0000269|PubMed:11326280"
FT /id="VAR_012348"
FT CONFLICT 258
FT /note="F -> L (in Ref. 3; BAA92126)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 364 AA; 39809 MW; 2E659D49C5C5E92E CRC64;
MNRAPLKRSR ILHMALTGAS DPSAEAEANG EKPFLLRALQ IALVVSLYWV TSISMVFLNK
YLLDSPSLRL DTPIFVTFYQ CLVTTLLCKG LSALAACCPG AVDFPSLRLD LRVARSVLPL
SVVFIGMITF NNLCLKYVGV AFYNVGRSLT TVFNVLLSYL LLKQTTSFYA LLTCGIIIGG
FWLGVDQEGA EGTLSWLGTV FGVLASLCVS LNAIYTTKVL PAVDGSIWRL TFYNNVNACI
LFLPLLLLLG ELQALRDFAQ LGSAHFWGMM TLGGLFGFAI GYVTGLQIKF TSPLTHNVSG
TAKACAQTVL AVLYYEETKS FLWWTSNMMV LGGSSAYTWV RGWEMKKTPE EPSPKDSEKS
AMGV
