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SLC29A3 solute carrier family 29 member 3 [ Homo sapiens (human) ]

Gene ID: 55315, updated on 17-Jun-2019

Summary

Official Symbol
SLC29A3provided by HGNC
Official Full Name
solute carrier family 29 member 3provided by HGNC
Primary source
HGNC:HGNC:23096
See related
Ensembl:ENSG00000198246 MIM:612373
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ENT3; HJCD; PHID; HCLAP
Summary
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]
Expression
Ubiquitous expression in placenta (RPKM 7.5), urinary bladder (RPKM 5.5) and 25 other tissues See more
Orthologs

Genomic context

See SLC29A3 in Genome Data Viewer
Location:
10q22.1
Exon count:
6
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (71319253..71363390)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (73079010..73123147)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107987148 Neighboring gene uncharacterized LOC112268061 Neighboring gene unc-5 netrin receptor B Neighboring gene uncharacterized LOC105378353 Neighboring gene cadherin related 23 Neighboring gene uncharacterized LOC105378356 Neighboring gene CDH23 antisense RNA 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Histiocytosis-lymphadenopathy plus syndrome
MedGen: C1864445 OMIM: 602782 GeneReviews: Not available
not available

NHGRI GWAS Catalog

Description
Association analyses identify three susceptibility Loci for vitiligo in the Chinese Han population.
NHGRI GWA Catalog
Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ11160

Gene Ontology Provided by GOA

Function Evidence Code Pubs
nucleoside transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleoside transmembrane transporter activity TAS
Traceable Author Statement
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
nucleoside transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Golgi apparatus IDA
Inferred from Direct Assay
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
late endosome membrane IEA
Inferred from Electronic Annotation
more info
 
lysosomal membrane HDA PubMed 
lysosomal membrane TAS
Traceable Author Statement
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
equilibrative nucleoside transporter 3
Names
solute carrier family 29 (equilibrative nucleoside transporter), member 3
solute carrier family 29 (nucleoside transporters), member 3

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_017066.2 RefSeqGene

    Range
    5001..49127
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1318

mRNA and Protein(s)

  1. NM_001174098.1NP_001167569.1  equilibrative nucleoside transporter 3 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. It encodes isoform b, which is shorter than isoform a.
    Source sequence(s)
    BC050589, BC063019, BC120997, DC319920
    UniProtKB/Swiss-Prot
    Q9BZD2
    Conserved Domains (1) summary
    cl15430
    Location:57258
    Nucleoside_tran; Nucleoside transporter
  2. NM_001363518.1NP_001350447.1  equilibrative nucleoside transporter 3 isoform c

    Status: REVIEWED

    Source sequence(s)
    AL359183, AL359384
    Consensus CDS
    CCDS86099.1
    Conserved Domains (1) summary
    cl15430
    Location:16397
    Nucleoside_tran; Nucleoside transporter
  3. NM_018344.6NP_060814.4  equilibrative nucleoside transporter 3 isoform a

    See identical proteins and their annotated locations for NP_060814.4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (a).
    Source sequence(s)
    BC050589, BC120997, DC319920
    Consensus CDS
    CCDS7310.1
    UniProtKB/Swiss-Prot
    Q9BZD2
    Related
    ENSP00000362285.5, ENST00000373189.6
    Conserved Domains (1) summary
    cl15430
    Location:57475
    Nucleoside_tran; Nucleoside transporter

RNA

  1. NR_033413.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    BC050589, BC120997, DC319920
    Related
    ENST00000644591.1
  2. NR_033414.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks two alternate internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    BC050589, BC120997, DC319920
    Related
    ENST00000644088.1

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    71319253..71363390
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017016377.2XP_016871866.1  equilibrative nucleoside transporter 3 isoform X2

    UniProtKB/Swiss-Prot
    Q9BZD2
  2. XM_017016378.2XP_016871867.1  equilibrative nucleoside transporter 3 isoform X3

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