SLC35A1
CMP-sialic acid transporter
Also known as: CMPST, hCST, S35A1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P78382
- Gene
- SLC35A1
- Ensembl
- ENSG00000164414
- Chromosome
- 6
- Canonical length
- 337 aa
- Protein class
- Disease related genes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted membrane proteins, Transporters
OverviewNCBI Gene
The protein encoded by this gene is found in the membrane of the Golgi apparatus, where it transports nucleotide sugars into the Golgi. One such nucleotide sugar is CMP-sialic acid, which is imported into the Golgi by the encoded protein and subsequently glycosylated. Defects in this gene are a cause of congenital disorder of glycosylation type 2F (CDG2F). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2009]
Canonical amino-acid sequenceUniProt
337 residues, UniProt reviewed canonical sequence.
>P78382|SLC35A1
1 MAAPRDNVTL LFKLYCLAVM TLMAAVYTIA LRYTRTSDKE LYFSTTAVCI TEVIKLLLSV
61 GILAKETGSL GRFKASLREN VLGSPKELLK LSVPSLVYAV QNNMAFLALS NLDAAVYQVT
121 YQLKIPCTAL CTVLMLNRTL SKLQWVSVFM LCAGVTLVQW KPAQATKVVV EQNPLLGFGA
181 IAIAVLCSGF AGVYFEKVLK SSDTSLWVRN IQMYLSGIIV TLAGVYLSDG AEIKEKGFFY
241 GYTYYVWFVI FLASVGGLYT SVVVKYTDNI MKGFSAAAAI VLSTIASVML FGLQITLTFA
301 LGTLLVCVSI YLYGLPRQDT TSIQQGETAS KERVIGVLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SLC35A1 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
- 10
- Mean surface accessibility (rSASA)
- 0.29
- Highest tissue expression
- 45 nTPM
Expression across tissuesHPA
Tissue
- rectum: 45 nTPM
- colon: 37 nTPM
- lung: 35 nTPM
- prostate: 35 nTPM
- choroid plexus: 34 nTPM
- liver: 31 nTPM
Single-cell type
- goblet cells: 79 nCPM
- prostatic glandular cells: 48 nCPM
- oocytes: 46 nCPM
- gastric progenitor cells: 36 nCPM
- mucous neck cells: 36 nCPM
- decidual stromal cells: 34 nCPM
Immune cell
- classical monocyte: 52 nTPM
- basophil: 51 nTPM
- myeloid DC: 45 nTPM
- non-classical monocyte: 43 nTPM
- intermediate monocyte: 42 nTPM
- total PBMC: 36 nTPM
Brain region
- choroid plexus: 23 nTPM
- cerebellum: 22 nTPM
- cerebral cortex: 19 nTPM
- hypothalamus: 17 nTPM
- white matter: 16 nTPM
- basal ganglia: 15 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SLC35A1.
Disease | AllUniProt
Conditions SLC35A1 is implicated in, by any mechanism.
- Congenital disorder of glycosylation 2F (CDG2F) MIM:603585
Disease | GeneticClinVar
4 pathogenic / likely-pathogenic of 125 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- SLC35A1-congenital disorder of glycosylation
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)
- 0.46
- gnomAD pLI
- 0.68
- gnomAD missense Z
- 1.27
- DepMap mean gene effect
- -0.11
- 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
- carbohydrate metabolic process
- CMP-N-acetylneuraminate biosynthetic process
- N-acetylneuraminate metabolic process
- protein modification process
- protein O-linked glycosylation
- CMP-N-acetylneuraminate transmembrane transport
Molecular functions
- antiporter activity
- pyrimidine nucleotide transmembrane transporter activity
- CMP-N-acetylneuraminate transmembrane transporter activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SLC35A1 as an antibody target. Whether an autoantibody or antibody against SLC35A1 could matter depends on whether native SLC35A1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SLC35A1 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 SLC35A1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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