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

Gene ID: 222962, updated on 9-Jun-2020

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
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

Genomic context

See SLC29A4 in Genome Data Viewer
Location:
7p22.1
Exon count:
12
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (5274311..5306862)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (5322561..5343704)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 215, pseudogene Neighboring gene WD repeat domain, phosphoinositide interacting 2 Neighboring gene trinucleotide repeat containing 18 Neighboring gene uncharacterized LOC100129484 Neighboring gene F-box and leucine rich repeat protein 18 Neighboring gene microRNA 589

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

General gene information

Markers

Homology

Clone Names

  • FLJ34923

Gene Ontology Provided by GOA

Function Evidence Code Pubs
monoamine transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleoside transmembrane transporter activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
monoamine transport IEA
Inferred from Electronic Annotation
more info
 
nucleoside transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
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)

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_001040661.2NP_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
    Q7RTT9
    Related
    ENSP00000297195.4, ENST00000297195.8
    Conserved Domains (1) summary
    cl15430
    Location:75503
    Nucleoside_tran; Nucleoside transporter
  2. NM_001300847.2NP_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_153247.3NP_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
    Q7RTT9
    Related
    ENSP00000380081.2, ENST00000396872.7
    Conserved Domains (1) summary
    cl15430
    Location:75503
    Nucleoside_tran; Nucleoside transporter

RefSeqs of Annotated Genomes: Homo sapiens Updated 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_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    5274311..5306862
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011515200.2XP_011513502.1  equilibrative nucleoside transporter 4 isoform X1

    See identical proteins and their annotated locations for XP_011513502.1

    UniProtKB/Swiss-Prot
    Q7RTT9
    Conserved Domains (1) summary
    cl15430
    Location:75503
    Nucleoside_tran; Nucleoside transporter
  2. XM_011515201.2XP_011513503.1  equilibrative nucleoside transporter 4 isoform X1

    See identical proteins and their annotated locations for XP_011513503.1

    UniProtKB/Swiss-Prot
    Q7RTT9
    Conserved Domains (1) summary
    cl15430
    Location:75503
    Nucleoside_tran; Nucleoside transporter
  3. XM_006715667.3XP_006715730.1  equilibrative nucleoside transporter 4 isoform X1

    See identical proteins and their annotated locations for XP_006715730.1

    UniProtKB/Swiss-Prot
    Q7RTT9
    Conserved Domains (1) summary
    cl15430
    Location:75503
    Nucleoside_tran; Nucleoside transporter
  4. XM_006715668.2XP_006715731.1  equilibrative nucleoside transporter 4 isoform X3

    Conserved Domains (1) summary
    cl15430
    Location:2311
    Nucleoside_tran; Nucleoside transporter
  5. XM_005249658.4XP_005249715.1  equilibrative nucleoside transporter 4 isoform X2

    See identical proteins and their annotated locations for XP_005249715.1

    UniProtKB/Swiss-Prot
    Q7RTT9
    Conserved Domains (1) summary
    cl15430
    Location:75489
    Nucleoside_tran; Nucleoside transporter
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