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    SLC29A4 solute carrier family 29 member 4 [ Homo sapiens (human) ]

    Gene ID: 222962, updated on 27-Nov-2024

    Summary

    Official Symbol
    SLC29A4provided by HGNC
    Official Full Name
    solute carrier family 29 member 4provided by HGNC
    Primary source
    HGNC:HGNC:23097
    See related
    Ensembl:ENSG00000164638 MIM:609149; AllianceGenome:HGNC:23097
    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
    ENT4; PMAT
    Summary
    This gene encodes a member of the SLC29A/ENT transporter protein family. The encoded membrane protein catalyzes the reuptake of monoamines into presynaptic neurons, thus determining the intensity and duration of monoamine neural signaling. It has been shown to transport several compounds, including serotonin, dopamine, and the neurotoxin 1-methyl-4-phenylpyridinium. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
    Expression
    Biased expression in fat (RPKM 35.4), adrenal (RPKM 3.7) and 4 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SLC29A4 in Genome Data Viewer
    Location:
    7p22.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (5282943..5306912)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (5400703..5424610)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (5322574..5346543)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene MPRA-validated peak6354 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17908 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17909 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17910 Neighboring gene RNA, U6 small nuclear 215, pseudogene Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:5257932-5259131 Neighboring gene WD repeat domain, phosphoinositide interacting 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:5262434-5263183 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25574 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17911 Neighboring gene Sharpr-MPRA regulatory region 13937 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25575 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17912 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:5323448-5324013 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:5324014-5324580 Neighboring gene Sharpr-MPRA regulatory region 9837 Neighboring gene Sharpr-MPRA regulatory region 3727 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17913 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:5350589-5351090 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:5351091-5351590 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:5362189-5362722 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:5362723-5363256 Neighboring gene trinucleotide repeat containing 18 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:5387551-5388392 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:5390077-5390917 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:5395754-5396256 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:5421456-5422020 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:5422021-5422584 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25576 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:5441055-5441556 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:5443987-5444488 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:5447921-5448510 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:5447331-5447920 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:5458249-5458998 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17914 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:5467243-5467992 Neighboring gene long intergenic non-protein coding RNA 2983 Neighboring gene long intergenic non-protein coding RNA 3073 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:5485342-5486174 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:5491262-5491967 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:5495336-5495836 Neighboring gene F-box and leucine rich repeat protein 18 Neighboring gene small nucleolar RNA U13

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ34923

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables efflux transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables efflux transmembrane transporter activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables monoamine transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables monoamine transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables monoamine transmembrane transporter activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables monoamine transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables monoatomic cation transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables neurotransmitter transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables neurotransmitter transmembrane transporter activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables neurotransmitter transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables nucleoside transmembrane transporter activity TAS
    Traceable Author Statement
    more info
     
    enables organic acid transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables organic cation transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables toxin transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables xenobiotic transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables xenobiotic transmembrane transporter activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in adenosine transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular detoxification ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in dopamine transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in dopamine uptake IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in dopamine uptake ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in epinephrine transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in epinephrine uptake IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in export across plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of histamine metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in histamine transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in histamine uptake IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in histamine uptake IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in monoamine transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in monoatomic cation transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in neurotransmitter transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in neurotransmitter transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in norepinephrine transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in norepinephrine uptake IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in norepinephrine uptake ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in nucleoside transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in organic acid transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in organic cation transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in serotonin transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in serotonin uptake IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in serotonin uptake ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in transport across blood-brain barrier NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in xenobiotic transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in xenobiotic transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in xenobiotic transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in apical plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in basolateral plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in presynapse IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    equilibrative nucleoside transporter 4
    Names
    plasma membrane monoamine transporter
    solute carrier family 29 (equilibrative nucleoside transporter), member 4
    solute carrier family 29 (nucleoside transporters), member 4

    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.

    mRNA and Protein(s)

    1. NM_001040661.3NP_001035751.1  equilibrative nucleoside transporter 4 isoform 1

      See identical proteins and their annotated locations for NP_001035751.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Variants 1 and 2 encode the same isoform.
      Source sequence(s)
      AC093376, AY485959, BC047592, H07897
      Consensus CDS
      CCDS5340.1
      UniProtKB/Swiss-Prot
      Q6PJ08, Q7RTT9, Q86WY8, Q8NAR3, Q8NBM2
      Related
      ENSP00000297195.4, ENST00000297195.8
      Conserved Domains (1) summary
      cl15430
      Location:75503
      Nucleoside_tran; Nucleoside transporter
    2. NM_001300847.3NP_001287776.1  equilibrative nucleoside transporter 4 isoform 2

      See identical proteins and their annotated locations for NP_001287776.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and uses two alternate splice sites in the central coding region, which results in an internal frameshifted section, compared to variant 1. The encoded isoform (2) is shorter and has a distinct internal segment, compared to isoform 1.
      Source sequence(s)
      AC093376, AK092242, AY485959, BC025325, BU740709, H07897
      Consensus CDS
      CCDS75561.1
      UniProtKB/Swiss-Prot
      Q7RTT9
      Related
      ENSP00000385845.3, ENST00000406453.3
      Conserved Domains (1) summary
      cl15430
      Location:75489
      Nucleoside_tran; Nucleoside transporter
    3. NM_153247.4NP_694979.2  equilibrative nucleoside transporter 4 isoform 1

      See identical proteins and their annotated locations for NP_694979.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AC093376, AY485959, BC047592, BM069878, BU740709, H07897
      Consensus CDS
      CCDS5340.1
      UniProtKB/Swiss-Prot
      Q6PJ08, Q7RTT9, Q86WY8, Q8NAR3, Q8NBM2
      Related
      ENSP00000380081.2, ENST00000396872.8
      Conserved Domains (1) summary
      cl15430
      Location:75503
      Nucleoside_tran; Nucleoside transporter

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      5282943..5306912
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      5400703..5424610
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)