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

    Gene ID: 29957, updated on 27-Nov-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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    See SLC25A24 in Genome Data Viewer
    Location:
    1p13.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (108134043..108200343, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (108171581..108233988, complement)
    RS_2024_09 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. Prenatal diagnosis of SLC25A24 Fontaine progeroid syndrome: description of the fetal phenotype, genotype and detection of parental mosaicism. Pannier E, et al. Birth Defects Res, 2024 Jul. PMID 38980211
    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. SLC25A24 Fontaine Progeroid Syndrome. Adam MP, et al. , 1993. PMID 35679445
    4. 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
    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 (74) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Prenatal diagnosis of SLC25A24 Fontaine progeroid syndrome: description of the fetal phenotype, genotype and detection of parental mosaicism.
      Title: Prenatal diagnosis of SLC25A24 Fontaine progeroid syndrome: description of the fetal phenotype, genotype and detection of parental mosaicism.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. Compares and contrasts all the known human SLC25A* genes and includes functional information.
      Title: The mitochondrial transporter family SLC25: identification, properties and physiopathology.
    10. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Submit: New GeneRIF Correction See all GeneRIFs (13)

    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)

    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 HTP PubMed 
    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_2024_08

    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.

    Chemical Information
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