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

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: mouse all
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Genomic context

Location:: 7p22.1

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (5282943..5306912)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (5400703..5424610)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (5322574..5346543)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

PMAT variant rs3889348 is associated with metformin-induced gastrointestinal among Chinese Type 2 diabetes patients.
Title: PMAT variant rs3889348 is associated with metformin-induced gastrointestinal among Chinese Type 2 diabetes patients.
Clinically significant findings of high-risk mutations in human SLC29A4 gene associated with diabetes mellitus type 2 in Pakistani population.
Title: Clinically significant findings of high-risk mutations in human SLC29A4 gene associated with diabetes mellitus type 2 in Pakistani population.
Bidirectional transport of 2-chloroadenosine by equilibrative nucleoside transporter 4 (hENT4): Evidence for allosteric kinetics at acidic pH.
Title: Bidirectional transport of 2-chloroadenosine by equilibrative nucleoside transporter 4 (hENT4): Evidence for allosteric kinetics at acidic pH.
In an adjusted logistic regression model, the G allele at rs3889348 (SLC29A4) was associated with metformin gastrointestinal intolerance.
Title: Variation in the Plasma Membrane Monoamine Transporter (PMAT) (Encoded by SLC29A4) and Organic Cation Transporter 1 (OCT1) (Encoded by SLC22A1) and Gastrointestinal Intolerance to Metformin in Type 2 Diabetes: An IMI DIRECT Study.
Cultured astroctye line 1321N1 and primary human astrocytes transport monoamines predominantly through PMAT.
Title: Predominant role of plasma membrane monoamine transporters in monoamine transport in 1321N1, a human astrocytoma-derived cell line.
Transport kinetic analysis revealed that I89M mutant in PMAT protein had a 2.7-fold reduction in maximal transport velocity with no significant change in apparent binding affinity.
Title: Residue Ile89 in human plasma membrane monoamine transporter influences its organic cation transport activity and sensitivity to inhibition by dilazep.
Data show that ENT1, ENT2, ENT4 and CNT3 protein was detected on ovarian carcinoma cells in all effusions, with expression observed in 1-95% of tumor cells.
Title: Nucleoside transporters are widely expressed in ovarian carcinoma effusions.
The selectivity and kinetics of monoamine neurotransmitter transport by PMAT and OCT3 was determined. PMAT is expressed at much higher levels than hOCT3 in brain, whereas hOCT3 is selectively and highly expressed in adrenal gland and skeletal muscle.
Title: Selective transport of monoamine neurotransmitters by human plasma membrane monoamine transporter and organic cation transporter 3.
Observational study of gene-disease association. (HuGE Navigator)
Title: Contribution of adenosine related genes to the risk of depression with disturbed sleep.
The data suggest that PMAT is specifically expressed in podocytes and may play an important role in puromycin aminonucleoside-induced kidney injury.
Title: Podocyte-specific expression of organic cation transporter PMAT: implication in puromycin aminonucleoside nephrotoxicity.

Submit: New GeneRIF Correction See all GeneRIFs (17)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

T15458 (e-PCR)
- UniSTS:49445

D7S2126E (e-PCR)
- UniSTS:49446

D7S541E (e-PCR)
- UniSTS:2710

D7S541E (e-PCR)
- UniSTS:61388

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

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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)

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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)

NM_001040661.3 → NP_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:75 → 503

Nucleoside_tran; Nucleoside transporter
NM_001300847.3 → NP_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:75 → 489

Nucleoside_tran; Nucleoside transporter
NM_153247.4 → NP_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:75 → 503

Nucleoside_tran; Nucleoside transporter