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Protein

GDP-fucose transporter 1

Gene

SLC35C1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Involved in GDP-fucose import from the cytoplasm into the Golgi lumen.

GO - Molecular functioni

GO - Biological processi

Keywordsi

Biological processSugar transport, Transport

Enzyme and pathway databases

ReactomeiR-HSA-5619078 Defective SLC35C1 causes congenital disorder of glycosylation 2C (CDG2C)
R-HSA-6787639 GDP-fucose biosynthesis
R-HSA-727802 Transport of nucleotide sugars

Protein family/group databases

TCDBi2.A.7.16.1 the drug/metabolite transporter (dmt) superfamily

Names & Taxonomyi

Protein namesi
Recommended name:
GDP-fucose transporter 1
Alternative name(s):
Solute carrier family 35 member C1
Gene namesi
Name:SLC35C1
Synonyms:FUCT1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000181830.8
HGNCiHGNC:20197 SLC35C1
MIMi605881 gene
neXtProtiNX_Q96A29

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei34 – 56HelicalSequence analysisAdd BLAST23
Transmembranei76 – 98HelicalSequence analysisAdd BLAST23
Transmembranei111 – 130HelicalSequence analysisAdd BLAST20
Transmembranei140 – 162HelicalSequence analysisAdd BLAST23
Transmembranei167 – 185HelicalSequence analysisAdd BLAST19
Transmembranei195 – 214HelicalSequence analysisAdd BLAST20
Transmembranei227 – 249HelicalSequence analysisAdd BLAST23
Transmembranei264 – 286HelicalSequence analysisAdd BLAST23

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Congenital disorder of glycosylation 2C (CDG2C)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. The clinical features of CDG2C include mental retardation, short stature, facial stigmata, and recurrent bacterial peripheral infections with persistently elevated peripheral leukocytes. Biochemically, CDG2C is characterized by a lack of fucosylated glycoconjugates, including selectin ligands.
See also OMIM:266265
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_012347147R → C in CDG2C. 2 PublicationsCorresponds to variant dbSNP:rs28939087EnsemblClinVar.1
Natural variantiVAR_012348308T → R in CDG2C. 1 PublicationCorresponds to variant dbSNP:rs28937886EnsemblClinVar.1

Keywords - Diseasei

Congenital disorder of glycosylation, Disease mutation

Organism-specific databases

DisGeNETi55343
MalaCardsiSLC35C1
MIMi266265 phenotype
OpenTargetsiENSG00000181830
Orphaneti99843 Leukocyte adhesion deficiency type II
PharmGKBiPA134930330

Polymorphism and mutation databases

BioMutaiSLC35C1
DMDMi20138280

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002133911 – 364GDP-fucose transporter 1Add BLAST364

Proteomic databases

MaxQBiQ96A29
PaxDbiQ96A29
PeptideAtlasiQ96A29
PRIDEiQ96A29

PTM databases

iPTMnetiQ96A29
PhosphoSitePlusiQ96A29
SwissPalmiQ96A29

Expressioni

Gene expression databases

BgeeiENSG00000181830
CleanExiHS_SLC35C1
ExpressionAtlasiQ96A29 baseline and differential
GenevisibleiQ96A29 HS

Organism-specific databases

HPAiHPA064001

Interactioni

Protein-protein interaction databases

BioGridi120624, 1 interactor
STRINGi9606.ENSP00000313318

Structurei

3D structure databases

ProteinModelPortaliQ96A29
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1442 Eukaryota
ENOG410XST0 LUCA
GeneTreeiENSGT00390000013315
HOGENOMiHOG000021132
HOVERGENiHBG051670
InParanoidiQ96A29
KOiK15279
OMAiSSAYTWV
OrthoDBiEOG091G0CH6
PhylomeDBiQ96A29
TreeFamiTF354269

Family and domain databases

InterProiView protein in InterPro
IPR029666 GDP-fucose_transp
IPR004853 Sugar_P_trans_dom
PANTHERiPTHR44132 PTHR44132, 1 hit
PfamiView protein in Pfam
PF03151 TPT, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96A29-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MNRAPLKRSR ILHMALTGAS DPSAEAEANG EKPFLLRALQ IALVVSLYWV
60 70 80 90 100
TSISMVFLNK YLLDSPSLRL DTPIFVTFYQ CLVTTLLCKG LSALAACCPG
110 120 130 140 150
AVDFPSLRLD LRVARSVLPL SVVFIGMITF NNLCLKYVGV AFYNVGRSLT
160 170 180 190 200
TVFNVLLSYL LLKQTTSFYA LLTCGIIIGG FWLGVDQEGA EGTLSWLGTV
210 220 230 240 250
FGVLASLCVS LNAIYTTKVL PAVDGSIWRL TFYNNVNACI LFLPLLLLLG
260 270 280 290 300
ELQALRDFAQ LGSAHFWGMM TLGGLFGFAI GYVTGLQIKF TSPLTHNVSG
310 320 330 340 350
TAKACAQTVL AVLYYEETKS FLWWTSNMMV LGGSSAYTWV RGWEMKKTPE
360
EPSPKDSEKS AMGV
Length:364
Mass (Da):39,809
Last modified:December 1, 2001 - v1
Checksum:i2E659D49C5C5E92E
GO
Isoform 2 (identifier: Q96A29-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-13: Missing.

Show »
Length:351
Mass (Da):38,235
Checksum:i070ECFC1B614798C
GO

Sequence cautioni

The sequence BAA92126 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti258F → L in BAA92126 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05730249W → S1 PublicationCorresponds to variant dbSNP:rs11538193Ensembl.1
Natural variantiVAR_012347147R → C in CDG2C. 2 PublicationsCorresponds to variant dbSNP:rs28939087EnsemblClinVar.1
Natural variantiVAR_057303240I → V. Corresponds to variant dbSNP:rs7130656EnsemblClinVar.1
Natural variantiVAR_012348308T → R in CDG2C. 1 PublicationCorresponds to variant dbSNP:rs28937886EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0471161 – 13Missing in isoform 2. 1 PublicationAdd BLAST13

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF323970 mRNA Translation: AAK50397.1
AF326199 mRNA Translation: AAK51705.1
AK027394 mRNA Translation: BAB55080.1
AK002182 mRNA Translation: BAA92126.1 Different initiation.
AK315473 mRNA Translation: BAG37859.1
AC044839 Genomic DNA No translation available.
CH471064 Genomic DNA Translation: EAW68031.1
BC001427 mRNA Translation: AAH01427.2
CCDSiCCDS44575.1 [Q96A29-2]
CCDS7914.1 [Q96A29-1]
RefSeqiNP_001138737.1, NM_001145265.1 [Q96A29-2]
NP_001138738.1, NM_001145266.1 [Q96A29-2]
NP_060859.4, NM_018389.4 [Q96A29-1]
UniGeneiHs.12211

Genome annotation databases

EnsembliENST00000314134; ENSP00000313318; ENSG00000181830 [Q96A29-1]
ENST00000442528; ENSP00000412408; ENSG00000181830 [Q96A29-2]
GeneIDi55343
KEGGihsa:55343
UCSCiuc001nbo.4 human [Q96A29-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiFUCT1_HUMAN
AccessioniPrimary (citable) accession number: Q96A29
Secondary accession number(s): B2RDB2, Q9BV76, Q9NUJ8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 23, 2002
Last sequence update: December 1, 2001
Last modified: March 28, 2018
This is version 152 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

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