Seroatlas · Human Serome Atlas

SLC35D1

Nucleotide sugar transporter SLC35D1

Also known as: KIAA0260, S35D1_HUMAN, UGTREL7

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

Protein identityUniProt · HPA

UniProt accession
Q9NTN3
Gene
SLC35D1
Ensembl
ENSG00000116704
Chromosome
1
Canonical length
355 aa
Protein class
Disease related genes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted membrane proteins, Transporters

OverviewNCBI Gene

Glycosylation of cellular glycoconjugates occurs in the endoplasmic reticulum (ER) and Golgi compartment, and requires transport of nucleotide sugars from the cytosol into the lumen of the ER and Golgi by specific transporters. The protein encoded by this gene resides in the ER, and transports both UDP-glucuronic acid (UDP-GlcA) and UDP-N-acetylgalactosamine (UDP-GalNAc) from the cytoplasm to the ER lumen. It may participate in glucuronidation and/or chondroitin sulfate biosynthesis. Mutations in this gene are associated with Schneckenbecken dysplasia.[provided by RefSeq, Sep 2009]

Canonical amino-acid sequenceUniProt

355 residues, UniProt reviewed canonical sequence.

>Q9NTN3|SLC35D1
     1  MAEVHRRQHA RVKGEAPAKS STLRDEEELG MASAETLTVF LKLLAAGFYG VSSFLIVVVN
    61  KSVLTNYRFP SSLCVGLGQM VATVAVLWVG KALRVVKFPD LDRNVPRKTF PLPLLYFGNQ
   121  ITGLFSTKKL NLPMFTVLRR FSILFTMFAE GVLLKKTFSW GIKMTVFAMI IGAFVAASSD
   181  LAFDLEGYAF ILINDVLTAA NGAYVKQKLD SKELGKYGLL YYNALFMILP TLAIAYFTGD
   241  AQKAVEFEGW ADTLFLLQFT LSCVMGFILM YATVLCTQYN SALTTTIVGC IKNILITYIG
   301  MVFGGDYIFT WTNFIGLNIS IAGSLVYSYI TFTEEQLSKQ SEANNKLDIK GKGAV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SLC35D1 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)
0.3
Highest tissue expression
70 nTPM

Expression across tissuesHPA

Tissue

  • liver: 70 nTPM
  • rectum: 25 nTPM
  • colon: 24 nTPM
  • small intestine: 15 nTPM
  • duodenum: 15 nTPM
  • stomach: 12 nTPM

Single-cell type

  • hepatocytes: 171 nCPM
  • thymocytes: 169 nCPM
  • pituicytes/fscs: 166 nCPM
  • choroid plexus epithelial cells: 148 nCPM
  • innate lymphoid cells: 129 nCPM
  • myonuclei: 123 nCPM

Immune cell

  • basophil: 8.5 nTPM
  • NK-cell: 3.5 nTPM
  • T-reg: 2.8 nTPM
  • eosinophil: 2.6 nTPM
  • MAIT T-cell: 2.4 nTPM
  • naive CD4 T-cell: 2.1 nTPM

Brain region

  • choroid plexus: 21 nTPM
  • white matter: 15 nTPM
  • midbrain: 14 nTPM
  • thalamus: 13 nTPM
  • medulla oblongata: 11 nTPM
  • basal ganglia: 9.9 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SLC35D1.

Disease | AllUniProt

Conditions SLC35D1 is implicated in, by any mechanism.

Disease | GeneticClinVar

15 pathogenic / likely-pathogenic of 255 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Schneckenbecken dysplasia
  • SLC35D1-related disorder

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)
0.78
gnomAD pLI
0
gnomAD missense Z
0.03
DepMap mean gene effect
-0.08
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SLC35D1 as an antibody target. Whether an autoantibody or antibody against SLC35D1 could matter depends on whether native SLC35D1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SLC35D1 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 SLC35D1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/SLC35D1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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