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

    Gene ID: 55315, updated on 8-Jul-2021

    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
    NEW
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    Genomic context

    See SLC29A3 in Genome Data Viewer
    Location:
    10q22.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (71319259..71363387)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (73079016..73123142)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC112268061 Neighboring gene Sharpr-MPRA regulatory region 4598 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 Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Association analyses identify three susceptibility Loci for vitiligo in the Chinese Han population.
    GeneReviews: Not available
    Histiocytosis-lymphadenopathy plus syndrome
    MedGen: C1864445 OMIM: 602782 GeneReviews: Not available
    Compare labs
    Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.
    GeneReviews: Not available
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    GeneReviews: Not available

    Pathways from PubChem

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

    NEW Try the new Transcript table

    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_001174098.2NP_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)
      BC063019, BC120997, DC319920
      UniProtKB/Swiss-Prot
      Q9BZD2
      Conserved Domains (1) summary
      cl15430
      Location:57258
      Nucleoside_tran; Nucleoside transporter
    2. NM_001363518.2NP_001350447.1  equilibrative nucleoside transporter 3 isoform c

      Status: REVIEWED

      Source sequence(s)
      AL359183, AL359384
      Consensus CDS
      CCDS86099.1
      Related
      ENSP00000493995.1, ENST00000479577.2
      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_033413.2 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_033414.2 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 Updated Annotation Release 109.20210514

    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
      71319259..71363387
      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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