Seroatlas · Human Serome Atlas

SLC35C1

GDP-fucose transporter 1

Also known as: FLJ11320, FUCT1, FUCT1_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q96A29
Gene: SLC35C1
Ensembl: ENSG00000181830
Chromosome: 11
Canonical length: 364 aa
Protein class: Disease related genes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted membrane proteins, Transporters
Subcellular location: Golgi apparatus

OverviewNCBI Gene

This gene encodes a GDP-fucose transporter that is found in the Golgi apparatus. Mutations in this gene result in congenital disorder of glycosylation type IIc. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]

Canonical amino-acid sequenceUniProt

364 residues, UniProt reviewed canonical sequence.

>Q96A29|SLC35C1
     1  MNRAPLKRSR ILHMALTGAS DPSAEAEANG EKPFLLRALQ IALVVSLYWV TSISMVFLNK
    61  YLLDSPSLRL DTPIFVTFYQ CLVTTLLCKG LSALAACCPG AVDFPSLRLD LRVARSVLPL
   121  SVVFIGMITF NNLCLKYVGV AFYNVGRSLT TVFNVLLSYL LLKQTTSFYA LLTCGIIIGG
   181  FWLGVDQEGA EGTLSWLGTV FGVLASLCVS LNAIYTTKVL PAVDGSIWRL TFYNNVNACI
   241  LFLPLLLLLG ELQALRDFAQ LGSAHFWGMM TLGGLFGFAI GYVTGLQIKF TSPLTHNVSG
   301  TAKACAQTVL AVLYYEETKS FLWWTSNMMV LGGSSAYTWV RGWEMKKTPE EPSPKDSEKS
   361  AMGV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SLC35C1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Other membrane
Secreted: No
Transmembrane segments: 8
Mean surface accessibility (rSASA): 0.31
Highest tissue expression: 92 nTPM

Expression across tissuesHPA

Tissue

liver: 92 nTPM
esophagus: 45 nTPM
salivary gland: 29 nTPM
adipose tissue: 29 nTPM
duodenum: 23 nTPM
small intestine: 23 nTPM

Single-cell type

esophageal apical cells: 294 nCPM
breast lactating cells: 69 nCPM
enterocytes: 60 nCPM
esophageal suprabasal cells: 55 nCPM
goblet cells: 44 nCPM
colonocytes: 44 nCPM

Immune cell

memory CD4 T-cell: 18 nTPM
memory CD8 T-cell: 15 nTPM
T-reg: 13 nTPM
eosinophil: 13 nTPM
MAIT T-cell: 13 nTPM
intermediate monocyte: 12 nTPM

Brain region

thalamus: 17 nTPM
medulla oblongata: 15 nTPM
midbrain: 15 nTPM
pons: 15 nTPM
cerebral cortex: 15 nTPM
hypothalamus: 13 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SLC35C1.

Disease | AllUniProt

Conditions SLC35C1 is implicated in, by any mechanism.

Congenital disorder of glycosylation 2C (CDG2C) MIM:266265

Disease | GeneticClinVar

10 pathogenic / likely-pathogenic of 346 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Leukocyte adhesion deficiency type II

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.98
gnomAD pLI: 0.02
gnomAD missense Z: 1.16
DepMap mean gene effect: -0.06
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

'de novo' GDP-L-fucose biosynthetic process
GDP-L-fucose biosynthetic process
GDP-L-fucose salvage
negative regulation of Notch signaling pathway
GDP-fucose import into Golgi lumen

Molecular functions

antiporter activity
GDP-fucose transmembrane transporter activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SLC35C1 as an antibody target. Whether an autoantibody or antibody against SLC35C1 could matter depends on whether native SLC35C1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SLC35C1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label SLC35C1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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