Seroatlas · Human Serome Atlas

SLC29A3

Equilibrative nucleoside transporter 3

Also known as: ENT3, FLJ11160, hENT3, S29A3_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q9BZD2
Gene
SLC29A3
Ensembl
ENSG00000198246
Chromosome
10
Canonical length
475 aa
Protein class
Disease related genes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted membrane proteins, Transporters
Subcellular location
Golgi apparatus,Vesicles

OverviewNCBI Gene

This gene encodes a nucleoside transporter. The encoded protein plays a role in cellular uptake of nucleosides, nucleobases, and their related analogs. Mutations in this gene have been associated with H syndrome, which is characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism. A related disorder, PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus), has also been associated with mutations at this locus. Alternatively spliced transcript variants have been described.[provided by RefSeq, Mar 2010]

Canonical amino-acid sequenceUniProt

475 residues, UniProt reviewed canonical sequence.

>Q9BZD2|SLC29A3
     1  MAVVSEDDFQ HSSNSTYRTT SSSLRADQEA LLEKLLDRPP PGLQRPEDRF CGTYIIFFSL
    61  GIGSLLPWNF FITAKEYWMF KLRNSSSPAT GEDPEGSDIL NYFESYLAVA STVPSMLCLV
   121  ANFLLVNRVA VHIRVLASLT VILAIFMVIT ALVKVDTSSW TRGFFAVTIV CMVILSGAST
   181  VFSSSIYGMT GSFPMRNSQA LISGGAMGGT VSAVASLVDL AASSDVRNSA LAFFLTATVF
   241  LVLCMGLYLL LSRLEYARYY MRPVLAAHVF SGEEELPQDS LSAPSVASRF IDSHTPPLRP
   301  ILKKTASLGF CVTYVFFITS LIYPAICTNI ESLNKGSGSL WTTKFFIPLT TFLLYNFADL
   361  CGRQLTAWIQ VPGPNSKALP GFVLLRTCLI PLFVLCNYQP RVHLKTVVFQ SDVYPALLSS
   421  LLGLSNGYLS TLALLYGPKI VPRELAEATG VVMSFYVCLG LTLGSACSTL LVHLI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SLC29A3 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
Cell surface
Secreted
No
Transmembrane segments
11
Mean surface accessibility (rSASA)
0.3
Highest tissue expression
11 nTPM

Expression across tissuesHPA

Tissue

  • placenta: 11 nTPM
  • ovary: 8.5 nTPM
  • urinary bladder: 7.2 nTPM
  • lymph node: 6.6 nTPM
  • lung: 6.3 nTPM
  • liver: 5.6 nTPM

Single-cell type

  • microglia: 75 nCPM
  • extravillous trophoblasts: 62 nCPM
  • cytotrophoblasts: 57 nCPM
  • migrating cytotrophoblasts: 57 nCPM
  • kupffer cells: 37 nCPM
  • oocytes: 37 nCPM

Immune cell

  • myeloid DC: 29 nTPM
  • plasmacytoid DC: 20 nTPM
  • classical monocyte: 19 nTPM
  • intermediate monocyte: 15 nTPM
  • non-classical monocyte: 10 nTPM
  • total PBMC: 9.5 nTPM

Brain region

  • white matter: 8.3 nTPM
  • medulla oblongata: 8 nTPM
  • thalamus: 7 nTPM
  • spinal cord: 6.5 nTPM
  • basal ganglia: 6.1 nTPM
  • pons: 6.1 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SLC29A3.

Disease | AllUniProt

Conditions SLC29A3 is implicated in, by any mechanism.

  • Histiocytosis-lymphadenopathy plus syndrome (HLAS) MIM:602782

Disease | GeneticClinVar

47 pathogenic / likely-pathogenic of 571 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
1.32
gnomAD pLI
0
gnomAD missense Z
-0.48
DepMap mean gene effect
0.01
DepMap dependency class
none

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

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SLC29A3 as an antibody target. Whether an autoantibody or antibody against SLC29A3 could matter depends on whether native SLC29A3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SLC29A3 is annotated at the cell surface, where native SLC29A3 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label SLC29A3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/SLC29A3. 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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