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SLC25A24 solute carrier family 25 member 24 [ Homo sapiens (human) ]

Gene ID: 29957, updated on 11-Apr-2024

Summary

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Official Symbol
SLC25A24provided by HGNC
Official Full Name
solute carrier family 25 member 24provided by HGNC
Primary source
HGNC:HGNC:20662
See related
Ensembl:ENSG00000085491 MIM:608744; AllianceGenome:HGNC:20662
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
APC1; SCAMC1; SCAMC-1
Summary
This gene encodes a carrier protein that transports ATP-Mg exchanging it for phosphate. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
Expression
Ubiquitous expression in small intestine (RPKM 21.4), colon (RPKM 20.9) and 25 other tissues See more
Orthologs
all
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Genomic context

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Location:
1p13.3
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (108134043..108200343, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (108171581..108233988, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (108676665..108742965, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene vav guanine nucleotide exchange factor 3 Neighboring gene Sharpr-MPRA regulatory region 13935 Neighboring gene VAV3 antisense RNA 1 Neighboring gene long intergenic non-protein coding RNA 2785 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:108649881-108651080 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:108663847-108664348 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:108664349-108664848 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:108668352-108668491 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:108702018-108702956 Neighboring gene Sharpr-MPRA regulatory region 7876 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:108804707-108805225 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:108815151-108815652 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:108815653-108816152 Neighboring gene SLC25A24 pseudogene 1 Neighboring gene NBPF member 4 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:108878070-108878247

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. SLC25A24 Fontaine Progeroid Syndrome. Adam MP, et al. , 1993. PMID 35679445
  2. SLC25A24 gene methylation and gray matter volume in females with and without conduct disorder: an exploratory epigenetic neuroimaging study. Farrow E, et al. Transl Psychiatry, 2021 Sep 24. PMID 34561420, Free PMC Article
  3. De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise. Writzl K, et al. Am J Hum Genet, 2017 Nov 2. PMID 29100094, Free PMC Article
  4. Genes identified through genome-wide association studies of osteonecrosis in childhood acute lymphoblastic leukemia patients. Gagné V, et al. Pharmacogenomics, 2019 Nov. PMID 31686588, Free PMC Article
  5. De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction. Ehmke N, et al. Am J Hum Genet, 2017 Nov 2. PMID 29100093, Free PMC Article

See all (63) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Tumor bud-derived CCL5 recruits fibroblasts and promotes colorectal cancer progression via CCR5-SLC25A24 signaling.
    Title: Tumor bud-derived CCL5 recruits fibroblasts and promotes colorectal cancer progression via CCR5-SLC25A24 signaling.
  2. SLC25A24 gene methylation and gray matter volume in females with and without conduct disorder: an exploratory epigenetic neuroimaging study.
    Title: SLC25A24 gene methylation and gray matter volume in females with and without conduct disorder: an exploratory epigenetic neuroimaging study.
  3. This study confirms implication of the ACP1 gene in the treatment-related osteonecrosis in childhood acute lymphoblastic leukemia (ALL) and identifies novel, potentially causal variant of this complication.
    Title: Genes identified through genome-wide association studies of osteonecrosis in childhood acute lymphoblastic leukemia patients.
  4. The SLC25A24 mutations lead to impaired mitochondrial ATP synthesis.
    Title: De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise.
  5. The SLC25A24 mutations induce a gain of pathological function.
    Title: De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.
  6. Genetic analyses in human and mouse models revealed the importance of SLC25A24/Slc25a24 in the regulation of body fat mass and adipogenesis.
    Title: SLC25A24 as a novel susceptibility gene for low fat mass in humans and mice.
  7. N-terminal EF hands form a self-sequestered compact calmodulin like Ca-sensor in the presence of Ca2+
    Title: A self-sequestered calmodulin-like Ca²⁺ sensor of mitochondrial SCaMC carrier and its implication to Ca²⁺-dependent ATP-Mg/P(i) transport.
  8. Compares and contrasts all the known human SLC25A* genes and includes functional information.
    Title: The mitochondrial transporter family SLC25: identification, properties and physiopathology.
  9. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  10. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Submit: New GeneRIF Correction See all GeneRIFs (12)

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
Fontaine progeroid syndrome
MedGen: C2676780 OMIM: 612289 GeneReviews: SLC25A24 Fontaine Progeroid Syndrome
Compare labs

EBI GWAS Catalog

Description
Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • DKFZp586G0123

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ADP:phosphate antiporter activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables ATP transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables ATP transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables ATP:phosphate antiporter activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables adenine nucleotide transmembrane transporter activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables calcium ion binding EXP
Inferred from Experiment
more info
 PubMed 
enables calcium ion binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in ADP transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in ATP transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in adenine nucleotide transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cellular response to calcium ion IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cellular response to oxidative stress IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in mitochondrial ATP transmembrane transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in mitochondrial ATP transmembrane transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in mitochondrial transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
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
  
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
mitochondrial adenyl nucleotide antiporter SLC25A24
Names
ATP-Mg/P(i) co-transporter 1
calcium-binding mitochondrial carrier protein SCaMC-1
calcium-binding transporter
mitochondrial ATP-Mg/Pi carrier protein 1
mitochondrial Ca(2+)-dependent solute carrier protein 1
short calcium-binding mitochondrial carrier 1
short calcium-binding mitochondrial carrier protein 1
small calcium-binding mitochondrial carrier protein 1
solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24

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.

Genomic

  1. NG_032752.1 RefSeqGene

    Range
    5016..71316
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_013386.5 → NP_037518.3  mitochondrial adenyl nucleotide antiporter SLC25A24 isoform 1

    See identical proteins and their annotated locations for NP_037518.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AL390036, AW069035, BC014519, BE243559, DC309482, DC340944, DC416591
    Consensus CDS
    CCDS41361.1
    UniProtKB/Swiss-Prot
    B7ZAI9, Q5T331, Q5T485, Q6NUK1, Q6PJJ9, Q705K4, Q9P129
    UniProtKB/TrEMBL
    B4E290, B7ZB41
    Related
    ENSP00000457733.1, ENST00000565488.6
    Conserved Domains (4) summary
    cd00051
    Location:28 → 85
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    PTZ00169
    Location:199 → 472
    PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
    pfam00153
    Location:194 → 283
    Mito_carr; Mitochondrial carrier protein
    pfam13499
    Location:25 → 84
    EF-hand_7; EF-hand domain pair

  2. NM_213651.3 → NP_998816.1  mitochondrial adenyl nucleotide antiporter SLC25A24 isoform 2

    See identical proteins and their annotated locations for NP_998816.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and CDS compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AJ619961, AK292567, AL359258, AL390036, AW069035, BE243559
    Consensus CDS
    CCDS786.1
    UniProtKB/TrEMBL
    B4E290, B7ZB41
    Related
    ENSP00000359058.4, ENST00000370041.4
    Conserved Domains (4) summary
    cd00051
    Location:12 → 66
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    PTZ00169
    Location:180 → 453
    PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
    pfam00153
    Location:175 → 264
    Mito_carr; Mitochondrial carrier protein
    pfam13499
    Location:7 → 65
    EF-hand_7; EF-hand domain pair

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    108134043..108200343 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_017852928.1 Reference GRCh38.p14 PATCHES

    Range
    146186..212513 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    108171581..108233988 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6NUK1.2 GenPept UniProtKB/Swiss-Prot:Q6NUK1

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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