SLC25A6 solute carrier family 25 member 6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC25A6provided by HGNC
Official Full Name: solute carrier family 25 member 6provided by HGNC
Primary source: HGNC:HGNC:10992
See related: Ensembl:ENSG00000169100 Ensembl:ENSG00000292334 MIM:300151; MIM:403000; AllianceGenome:HGNC:10992
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: ANT; AAC3; ANT3; ANT 2; ANT 3; ANT3Y
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 is implicated in the function of the permability transition pore complex (PTPC), which regulates the release of mitochondrial products that induce apoptosis. The human genome contains several non-transcribed pseudogenes of this gene. [provided by RefSeq, Jun 2013]
Expression: Ubiquitous expression in kidney (RPKM 238.9), ovary (RPKM 226.6) and 25 other tissues See more
Orthologs: all
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Genomic context

Location:: X;Y

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (1386152..1392113, complement)
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	Y	NC_000024.10 (1386152..1392113, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (1229798..1235760, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	Y	NC_060948.1 (1249921..1256001, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (1505045..1511006, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	Y	NC_000024.9 (1455045..1461006, complement)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Chromosome Y - NC_000024.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Dosage of the pseudoautosomal gene SLC25A6 is implicated in QTc interval duration.
Title: Dosage of the pseudoautosomal gene SLC25A6 is implicated in QTc interval duration.
Mortalin (HSPA9) facilitates BRAF-mutant tumor cell survival by suppressing ANT3-mediated mitochondrial membrane permeability.
Title: Mortalin (HSPA9) facilitates BRAF-mutant tumor cell survival by suppressing ANT3-mediated mitochondrial membrane permeability.
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.
cancer cells require both hANT2 and hANT3, depending on their proliferation status: hANT2 when proliferation rates are high, and hANT3 when proliferation slows.
Title: Changes in the expression of the human adenine nucleotide translocase isoforms condition cellular metabolic/proliferative status.
Human ANT3 expression is directly downregulated by overexpression of hcmv-miR-UL36-5p.
Title: Human cytomegalovirus miR-UL36-5p inhibits apoptosis via downregulation of adenine nucleotide translocator 3 in cultured cells.
Compares and contrasts all the known human SLC25A* genes and includes functional information.
Title: The mitochondrial transporter family SLC25: identification, properties and physiopathology.
The dynamics of the molecular interactions between the C-terminal region of PB1-F2 protein and VDAC1 and ANT3 were expounded by employing an in silico approach.
Title: Molecular interactions between mitochondrial membrane proteins and the C-terminal domain of PB1-F2: an in silico approach.
These data suggest that the down-regulation of ANT3 levels upon stimulation with CPT may be involved in the molecular mechanism underlying acquired resistance to camptothecin.
Title: Down-regulation of adenine nucleotide translocase 3 and its role in camptothecin-induced apoptosis in human hepatoma QGY7703 cells.
involvement of ANT in cell death is cell type- and stimulus-dependent
Title: Adenine nucleotide (ADP/ATP) translocase 3 participates in the tumor necrosis factor induced apoptosis of MCF-7 cells.
ANT3 overexpression induces apoptosis in cultured cells.
Title: Adenine nucleotide translocase 3 (ANT3) overexpression induces apoptosis in cultured cells.

Submit: New GeneRIF Correction See all GeneRIFs (14)

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

GDB:191420 (e-PCR)
- UniSTS:155649

RH79891 (e-PCR)
- UniSTS:85411

SLC25A6_1328 (e-PCR)
- UniSTS:277736

D9S1056E (e-PCR)
- UniSTS:151273

D13S873E (e-PCR)
- UniSTS:151536

RH74927 (e-PCR)
- UniSTS:92663

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP:ADP antiporter activity	NAS Non-traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in mitochondrial ADP transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in mitochondrial ATP transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of TIM23 mitochondrial import inner membrane translocase complex	TAS Traceable Author Statement more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial inner membrane	TAS Traceable Author Statement 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 nucleus	HDA more info	PubMed

General protein information

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Preferred Names: ADP/ATP translocase 3

Names: ADP,ATP carrier protein 3; ADP,ATP carrier protein, liver; ADP/ATP translocator of liver; adenine nucleotide translocator 3; epididymis secretory sperm binding protein; solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6

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.