SLC25A31 solute carrier family 25 member 31 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC25A31provided by HGNC
Official Full Name: solute carrier family 25 member 31provided by HGNC
Primary source: HGNC:HGNC:25319
See related: Ensembl:ENSG00000151475 MIM:610796; AllianceGenome:HGNC:25319
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: AAC4; ANT4; ANT 4; SFEC35kDa
Summary: The protein encoded by this gene is a member of the ADP/ATP carrier family of proteins that exchange cytosolic ADP for matrix ATP in the mitochondria. Cells over-expressing this gene have been shown to display an anti-apoptotic phenotype. This protein is also thought to play a role in spermatogenesis, where it is believed to associate with a part of the flagellar cytoskeleton and with glycolytic enzymes. Male mice with mutations in the mouse ortholog of this gene are sterile and spermatocytes display an early meiotic arrest phenotype. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]
Expression: Restricted expression toward testis (RPKM 32.1) See more
Orthologs: mouse all
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Genomic context

Location:: 4q28.1

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (127730400..127774292)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (131033425..131077300)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (128651555..128695447)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
Male mice with disruptions of Slc25a31 are sterile and display an early meiotic arrest phenotype.
Title: Adenine nucleotide translocase 4 deficiency leads to early meiotic arrest of murine male germ cells.
Compares and contrasts all the known human SLC25A* genes and includes functional information.
Title: The mitochondrial transporter family SLC25: identification, properties and physiopathology.
Data show the specific role of the ANT4 isoform in spermatozoid bioenergetics.
Title: Computational analysis of the transcriptional regulation of the adenine nucleotide translocator isoform 4 gene and its role in spermatozoid glycolytic metabolism.
data define common and distinct biochemical characteristics of ANT4 in comparison to ANT1, 2 and 3 providing a basis for study of its unique adaptation to germ cells
Title: Functional expression of human adenine nucleotide translocase 4 in Saccharomyces cerevisiae.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
data highlight a cytoprotective activity of ANT4, and provide a novel dichotomy in the ANT isoform sub-family with ANT1 and 3 isoforms functioning as pro-apoptotic while ANT2 and 4 isoforms render cells resistant to death inducing stimuli
Title: The fourth isoform of the adenine nucleotide translocator inhibits mitochondrial apoptosis in cancer cells.
The co-localization of SFEC and glycolytic enzymes in the fibrous sheath supports a growing literature that the principal piece of the flagellum is capable of generating and regulating ATP independently from mitochondrial oxidation in the mid-piece.
Title: Compartmentalization of a unique ADP/ATP carrier protein SFEC (Sperm Flagellar Energy Carrier, AAC4) with glycolytic enzymes in the fibrous sheath of the human sperm flagellar principal piece.

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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

D4S1027 (e-PCR)
- UniSTS:41885

G59189 (e-PCR)
- UniSTS:136362

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP:ADP antiporter activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in male meiosis I	ISS Inferred from Sequence or Structural Similarity 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
involved_in regulation of mitochondrial membrane permeability	ISS Inferred from Sequence or Structural Similarity more info
involved_in spermatogenesis	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	IEA Inferred from Electronic Annotation more info
part_of mitochondrial permeability transition pore complex	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrion	HTP more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info
located_in motile cilium	IEA Inferred from Electronic Annotation more info
located_in nucleus	HDA more info	PubMed
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: ADP/ATP translocase 4

Names: ADP,ATP carrier protein 4; adenine nucleotide translocase 4; adenine nucleotide translocator 4; solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31; sperm flagellar energy carrier protein

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_001318467.2 → NP_001305396.1 ADP/ATP translocase 4 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an alternate exon in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AC093591, AL136857, BC022032, BG192958, BM563946, BQ438347, BU853653

UniProtKB/Swiss-Prot

Q9H0C2

Conserved Domains (1) summary

cl28162
Location:19 → 252

Mito_carr; Mitochondrial carrier protein
NM_031291.4 → NP_112581.1 ADP/ATP translocase 4 isoform 1

See identical proteins and their annotated locations for NP_112581.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

BC022032, BG192958, BQ438347

Consensus CDS

CCDS3733.1

UniProtKB/Swiss-Prot

Q9H0C2

Related

ENSP00000281154.4, ENST00000281154.6

Conserved Domains (1) summary

PTZ00169
Location:19 → 309

PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional

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

NC_000004.12 Reference GRCh38.p14 Primary Assembly

Range

127730400..127774292

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011532298.3 → XP_011530600.1 ADP/ATP translocase 4 isoform X1

Conserved Domains (2) summary

PTZ00169
Location:19 → 218

PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional

pfam00153
Location:16 → 112

Mito_carr; Mitochondrial carrier protein