SLC25A4 solute carrier family 25 member 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC25A4provided by HGNC
Official Full Name: solute carrier family 25 member 4provided by HGNC
Primary source: HGNC:HGNC:10990
See related: Ensembl:ENSG00000151729 MIM:103220; AllianceGenome:HGNC:10990
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: T1; ANT; AAC1; ANT1; PEO2; PEO3; ANT 1; PEOA2; MTDPS12; MTDPS12A
Summary: This gene is a member of the mitochondrial carrier subfamily of solute carrier protein genes. The product of this gene functions as a gated pore that translocates ADP from the cytoplasm into the mitochondrial matrix and ATP from the mitochondrial matrix into the cytoplasm. The protein forms a homodimer embedded in the inner mitochondria membrane. Mutations in this gene have been shown to result in autosomal dominant progressive external opthalmoplegia and familial hypertrophic cardiomyopathy. [provided by RefSeq, Jun 2013]
Expression: Biased expression in heart (RPKM 227.6), brain (RPKM 24.6) and 3 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 4q35.1

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (185143266..185150382)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (188486951..188494056)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (186064420..186071536)

Chromosome 4 - NC_000004.12 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 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?

Loss of ANT1 Increases Fibrosis and Epithelial Cell Senescence in Idiopathic Pulmonary Fibrosis.
Title: Loss of ANT1 Increases Fibrosis and Epithelial Cell Senescence in Idiopathic Pulmonary Fibrosis.
Human mitochondrial ADP/ATP carrier SLC25A4 operates with a ping-pong kinetic mechanism.
Title: Human mitochondrial ADP/ATP carrier SLC25A4 operates with a ping-pong kinetic mechanism.
ANT1 overexpression models: Some similarities with facioscapulohumeral muscular dystrophy.
Title: ANT1 overexpression models: Some similarities with facioscapulohumeral muscular dystrophy.
Conformational change of adenine nucleotide translocase-1 mediates cisplatin resistance induced by EBV-LMP1.
Title: Conformational change of adenine nucleotide translocase-1 mediates cisplatin resistance induced by EBV-LMP1.
Site-specific acetylation of adenine nucleotide translocase 1 at lysine 23 in human muscle.
Title: Site-specific acetylation of adenine nucleotide translocase 1 at lysine 23 in human muscle.
Differential Expression of ADP/ATP Carriers as a Biomarker of Metabolic Remodeling and Survival in Kidney Cancers.
Title: Differential Expression of ADP/ATP Carriers as a Biomarker of Metabolic Remodeling and Survival in Kidney Cancers.
Evaluation of the Diagnostic and Predictive Value of Serum Levels of ANT1, ATG5, and Parkin in Multiple Sclerosis.
Title: Evaluation of the Diagnostic and Predictive Value of Serum Levels of ANT1, ATG5, and Parkin in Multiple Sclerosis.
The relationship between ANT1 and NFL with autophagy and mitophagy markers in patients with multiple sclerosis.
Title: The relationship between ANT1 and NFL with autophagy and mitophagy markers in patients with multiple sclerosis.
The findings underscore the central role played by ANT in the control of oxidative phosphorylation, particularly at the energy phosphate levels associated with low ATP demand. As predicted by molecular dynamic modeling, ANT Lysine23 acetylation decreased the apparent affinity of ADP for ANT binding.
Title: Dominant and sensitive control of oxidative flux by the ATP-ADP carrier in human skeletal muscle mitochondria: Effect of lysine acetylation.
Patients with SLC25A4 (ANT1) gene mutations present a common phenotype with exercise intolerance, hyperlactatemia, and hypertrophic cardiomyopathy.
Title: Two new cases of mitochondrial myopathy with exercise intolerance, hyperlactatemia and cardiomyopathy, caused by recessive SLC25A4 mutations.

Submit: New GeneRIF Correction See all GeneRIFs (52)

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

Associated conditions

Description	Tests
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant MedGen: C4310676 OMIM: 617184 GeneReviews: Mitochondrial DNA Maintenance Defects Overview	Compare labs
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive MedGen: C3809443 OMIM: 615418 GeneReviews: Mitochondrial DNA Maintenance Defects Overview	Compare labs
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 MedGen: C1836460 OMIM: 609283 GeneReviews: Mitochondrial DNA Maintenance Defects Overview	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Vpr	vpr	HIV-1 Vpr peptides 27-51 and 71-82 bind to adenine nucleotide translocator (ANT) in a region encompassing the first ANT intermembrane space loop and part of its second and third transmembrane helices	PubMed
	vpr	HIV-1 Vpr (amino acids 71-96) induces mitochondrial membrane permeabilization and apoptosis via a specific binding interaction with the adenine nucleotide translocator (amino acids 104-116)	PubMed
	vpr	Interaction of HIV-1 Vpr with human adenine nucleotide translocator (ANT) is presumed based on a specific binding interaction between Vpr and rat ANT	PubMed
retropepsin	gag-pol	HIV-1 PR cleaves ANT in a dose-dependent manner in HEK293 cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-59680 (e-PCR)
- UniSTS:20782

STS-F10917 (e-PCR)
- UniSTS:64568

SHGC-59518 (e-PCR)
- UniSTS:35138

SLC25A4 (e-PCR)
- UniSTS:266054

D4S3175 (e-PCR)
- UniSTS:16763

G33947 (e-PCR)
- UniSTS:48256

MARC_5085-5086:996690129:1 (e-PCR)
- UniSTS:269452

SLC25A4 (e-PCR)
- UniSTS:506255

GDB:201790 (e-PCR)
- UniSTS:156059

GDB:201792 (e-PCR)
- UniSTS:156060

A006N06 (e-PCR)
- UniSTS:58023

D4S2504E (e-PCR)
- UniSTS:150964

SHGC-59516 (e-PCR)
- UniSTS:63975

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP:ADP antiporter activity	IDA Inferred from Direct Assay more info	PubMed
enables adenine transmembrane transporter activity	TAS Traceable Author Statement more info	PubMed
enables oxidative phosphorylation uncoupler activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables proton transmembrane transporter activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in ADP transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in adaptive thermogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in adaptive thermogenesis	TAS Traceable Author Statement more info
involved_in adenine transport	IEA Inferred from Electronic Annotation more info
involved_in apoptotic mitochondrial changes	IEA Inferred from Electronic Annotation more info
involved_in generation of precursor metabolites and energy	TAS Traceable Author Statement more info	PubMed
involved_in mitochondrial ADP transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in mitochondrial ATP transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in mitochondrial genome maintenance	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of necroptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of mitophagy	ISS Inferred from Sequence or Structural Similarity more info
involved_in proton transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in regulation of mitochondrial membrane permeability	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial inner membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial inner membrane	TAS Traceable Author Statement more info
located_in mitochondrial membrane	ISS Inferred from Sequence or Structural Similarity more info
part_of mitochondrial permeability transition pore complex	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrion	HDA more info	PubMed
located_in mitochondrion	HTP more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info
located_in plasma membrane	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: ADP/ATP translocase 1

Names: ADP,ATP carrier protein 1; ADP,ATP carrier protein, heart/skeletal muscle; ADP/ATP carrier 1; adenine nucleotide translocator 1 (skeletal muscle); heart/skeletal muscle ATP/ADP translocator; progressive external ophthalmoplegia 2; progressive external ophthalmoplegia 3; solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), 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.