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SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3 [ Homo sapiens (human) ]

Gene ID: 55315, updated on 12-Jun-2014
Official Symbol
SLC29A3provided by HGNC
Official Full Name
solute carrier family 29 (equilibrative nucleoside transporter), member 3provided by HGNC
Primary source
HGNC:23096
Locus tag
UNQ717/PRO1380
See related
Ensembl:ENSG00000198246; HPRD:11570; MIM:612373; Vega:OTTHUMG00000018424
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]
See SLC29A3 in Epigenomics, MapViewer
Location:
10q22.1
Exon count :
6
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha Neighboring gene UNC5B antisense RNA 1 Neighboring gene unc-5 homolog B (C. elegans) Neighboring gene cadherin-related 23 Neighboring gene uncharacterized LOC102723377 Neighboring gene uncharacterized LOC101929085

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Histiocytosis with joint contractures and sensorineural deafness
MedGen: C1864445 OMIM: 602782 GeneReviews: Not available
Compare labs

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

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
nucleoside transmembrane transporter activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
nucleoside transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
transmembrane transport TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
late endosome membrane IEA
Inferred from Electronic Annotation
more info
 
lysosomal membrane IDA
Inferred from Direct Assay
more info
PubMed 
lysosomal membrane TAS
Traceable Author Statement
more info
 
Preferred Names
equilibrative nucleoside transporter 3
Names
equilibrative nucleoside transporter 3
solute carrier family 29 (nucleoside transporters), member 3

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_017066.1 

    Range
    5001..49138
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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
    Blast Score: 317
    Nucleoside_tran; Nucleoside transporter
  2. NM_018344.5NP_060814.4  equilibrative nucleoside transporter 3 isoform a

    See proteins identical to 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, OTTHUMP00000019773, ENST00000373189, OTTHUMT00000048544
    Conserved Domains (1) summary
    cl15430
    Location:57475
    Blast Score: 598
    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
  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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000010.11 

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

mRNA and Protein(s)

  1. XM_006717910.1XP_006717973.1  

    Conserved Domains (1) summary
    cl15430
    Location:16397
    Blast Score: 511
    Nucleoside_tran; Nucleoside transporter

Alternate HuRef

Genomic

  1. AC_000142.1 

    Range
    67073050..67117221
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018921.2 

    Range
    73361676..73405808
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Supplemental Content

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