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SLC25A25 solute carrier family 25 member 25 [ Homo sapiens (human) ]

Gene ID: 114789, updated on 11-Apr-2024

Summary

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Official Symbol
SLC25A25provided by HGNC
Official Full Name
solute carrier family 25 member 25provided by HGNC
Primary source
HGNC:HGNC:20663
See related
Ensembl:ENSG00000148339 MIM:608745; AllianceGenome:HGNC:20663
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
MCSC; PCSCL; SCAMC2; SCAMC-2
Summary
The protein encoded by this gene belongs to the family of calcium-binding mitochondrial carriers, with a characteristic mitochondrial carrier domain at the C-terminus. These proteins are found in the inner membranes of mitochondria, and function as transport proteins. They shuttle metabolites, nucleotides and cofactors through the mitochondrial membrane and thereby connect and/or regulate cytoplasm and matrix functions. This protein may function as an ATP-Mg/Pi carrier that mediates the transport of Mg-ATP in exchange for phosphate, and likely responsible for the net uptake or efflux of adenine nucleotides into or from the mitochondria. Alternatively spliced transcript variants encoding different isoforms with a common C-terminus but variable N-termini have been described for this gene. [provided by RefSeq, Jul 2012]
Expression
Ubiquitous expression in liver (RPKM 17.5), gall bladder (RPKM 17.0) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
9q34.11
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (128068232..128109245)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (140276208..140317210)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (130830511..130871524)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902280 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:130704889-130705418 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130708322-130708822 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130708823-130709323 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:130717798-130718764 Neighboring gene estrogen-induced osteoclastogenesis regulator 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:130723095-130723703 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130723748-130724584 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130724585-130725420 Neighboring gene Sharpr-MPRA regulatory region 6856 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:130730939-130731467 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:130735756-130736498 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:130736499-130737242 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29063 Neighboring gene conserved acetylation island sequence 15 enhancer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20319 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29064 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:130763335-130763870 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:130763871-130764404 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29065 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29066 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29067 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20321 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20320 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29068 Neighboring gene Sharpr-MPRA regulatory region 5179 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130817345-130818242 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29069 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20323 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29070 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:130835790-130836290 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:130836291-130836791 Neighboring gene nuclear apoptosis inducing factor 1 Neighboring gene Sharpr-MPRA regulatory region 4771 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:130853709-130854229 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:130854230-130854750 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:130859824-130860560 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:130860561-130861298 Neighboring gene SLC25A25 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 4689 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29071 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29072 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20324 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29073 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20325 Neighboring gene prostaglandin E synthase 2

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. Exome sequencing identifies a disease variant of the mitochondrial ATP-Mg/Pi carrier SLC25A25 in two families with kidney stones. Jabalameli MR, et al. Mol Genet Genomic Med, 2021 Dec. PMID 34346195, Free PMC Article
  2. FOXD3 acts as a repressor of the mitochondrial S-adenosylmethionine carrier (SLC25A26) gene expression in cancer cells. Cianciulli A, et al. Biochimie, 2018 Nov. PMID 30076902
  3. A novel mitochondrial Ca2+-dependent solute carrier in the liver identified by mRNA differential display. Mashima H, et al. J Biol Chem, 2003 Mar 14. PMID 12645546
  4. Identification of the mitochondrial ATP-Mg/Pi transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution. Fiermonte G, et al. J Biol Chem, 2004 Jul 16. PMID 15123600
  5. Identification of a novel human subfamily of mitochondrial carriers with calcium-binding domains. del Arco A, et al. J Biol Chem, 2004 Jun 4. PMID 15054102

See all (30) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Exome sequencing identifies a disease variant of the mitochondrial ATP-Mg/Pi carrier SLC25A25 in two families with kidney stones.
    Title: Exome sequencing identifies a disease variant of the mitochondrial ATP-Mg/Pi carrier SLC25A25 in two families with kidney stones.
  2. FOXD3 acts as a repressor of the mitochondrial S-adenosylmethionine carrier (SLC25A26) gene expression in cancer cells.
    Title: FOXD3 acts as a repressor of the mitochondrial S-adenosylmethionine carrier (SLC25A26) gene expression in cancer cells.
  3. Compares and contrasts all the known human SLC25A* genes and includes functional information.
    Title: The mitochondrial transporter family SLC25: identification, properties and physiopathology.
  4. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  5. may play an important role in regulating the function of hepatocytes rather than in differentiation in vivo
    Title: A novel mitochondrial Ca2+-dependent solute carrier in the liver identified by mRNA differential display.
  6. SCaMC-2, has four variants generated by alternative splicing, resulting in proteins with a common C terminus but with variations in their N-terminal halves, including the loss of one to three EF-hand motifs
    Title: Identification of a novel human subfamily of mitochondrial carriers with calcium-binding domains.
  7. identification of three isoforms of the mitochondrial ATP-Mg/Pi carrier APC1, APC2 and APC3; they are most likely responsible for the net uptake or efflux of adenine nucleotides into or from the mitochondria [APC3]
    Title: Identification of the mitochondrial ATP-Mg/Pi transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution.
Submit: New GeneRIF Correction

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)

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

  • KIAA1896, MGC105138, MGC119514, MGC119515, MGC119516, MGC119517

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables ATP:phosphate antiporter activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables calcium ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in ADP transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in ATP metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in ATP transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in adipose tissue development IEA
Inferred from Electronic Annotation
more info
  
involved_in calcium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
involved_in camera-type eye development IEA
Inferred from Electronic Annotation
more info
  
involved_in cellular respiration IEA
Inferred from Electronic Annotation
more info
  
involved_in multicellular organism growth IEA
Inferred from Electronic Annotation
more info
  
involved_in response to activity IEA
Inferred from Electronic Annotation
more info
  
involved_in response to dietary excess IEA
Inferred from Electronic Annotation
more info
  
involved_in response to food IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
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 SLC25A25
Names
calcium-binding mitochondrial carrier protein SCaMC-2
mitochondrial ATP-Mg/Pi carrier protein 3
mitochondrial Ca(2+)-dependent solute carrier protein 3
short calcium-binding mitochondrial carrier 2
short calcium-binding mitochondrial carrier protein 2
small calcium-binding mitochondrial carrier 2
solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25

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_032871.2 RefSeqGene

    Range
    5002..46015
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001006641.4 → NP_001006642.1  mitochondrial adenyl nucleotide antiporter SLC25A25 isoform b

    See identical proteins and their annotated locations for NP_001006642.1

    Status: REVIEWED

    Source sequence(s)
    AL360268, AL590708
    Consensus CDS
    CCDS35151.1
    UniProtKB/Swiss-Prot
    Q6KCM7
    Related
    ENSP00000362159.2, ENST00000373068.6
    Conserved Domains (3) summary
    cd00051
    Location:116 → 175
    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 ...
    pfam00153
    Location:310 → 402
    Mito_carr; Mitochondrial carrier protein
    pfam13499
    Location:52 → 110
    EF-hand_7; EF-hand domain pair

  2. NM_001006642.4 → NP_001006643.1  mitochondrial adenyl nucleotide antiporter SLC25A25 isoform c precursor

    See identical proteins and their annotated locations for NP_001006643.1

    Status: REVIEWED

    Source sequence(s)
    AL360268, AL590708
    Consensus CDS
    CCDS48031.1
    UniProtKB/TrEMBL
    A0A804HLB0
    Related
    ENSP00000410053.2, ENST00000432073.6
    Conserved Domains (4) summary
    cd00051
    Location:102 → 161
    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 ...
    pfam00153
    Location:296 → 388
    Mito_carr; Mitochondrial carrier protein
    pfam13499
    Location:103 → 158
    EF-hand_7; EF-hand domain pair
    cl08302
    Location:63 → 97
    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 ...

  3. NM_001265614.3 → NP_001252543.1  mitochondrial adenyl nucleotide antiporter SLC25A25 isoform 5 precursor

    See identical proteins and their annotated locations for NP_001252543.1

    Status: REVIEWED

    Source sequence(s)
    AL360268, AL590708
    Consensus CDS
    CCDS59146.1
    UniProtKB/TrEMBL
    A0A804HLB0
    Related
    ENSP00000362157.5, ENST00000373066.9
    Conserved Domains (4) summary
    cd00051
    Location:102 → 173
    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 ...
    pfam00153
    Location:308 → 400
    Mito_carr; Mitochondrial carrier protein
    pfam13499
    Location:103 → 170
    EF-hand_7; EF-hand domain pair
    cl08302
    Location:63 → 97
    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 ...

  4. NM_001330988.2 → NP_001317917.1  mitochondrial adenyl nucleotide antiporter SLC25A25 isoform e

    Status: REVIEWED

    Source sequence(s)
    AL360268, AL590708
    Consensus CDS
    CCDS83420.1
    UniProtKB/Swiss-Prot
    Q6KCM7
    Related
    ENSP00000362160.5, ENST00000373069.10

  5. NM_001387057.1 → NP_001373986.1  mitochondrial adenyl nucleotide antiporter SLC25A25 isoform f

    Status: REVIEWED

    Source sequence(s)
    AL360268, AL590708
    Conserved Domains (5) summary
    PTZ00169
    Location:203 → 457
    PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
    cd15898
    Location:82 → 111
    EFh_PI-PLC; EF-hand motif [structural motif]
    cd15897
    Location:53 → 77
    EFh_PEF; EF-hand motif [structural motif]
    cl28895
    Location:82 → 171
    EFh_PI-PLC; EF-hand motif found in eukaryotic phosphoinositide-specific phospholipase C (PI-PLC, EC 3.1.4.11) isozymes
    cl25352
    Location:53 → 125
    EFh_PEF; The penta-EF hand (PEF) family

  6. NM_052901.5 → NP_443133.2  mitochondrial adenyl nucleotide antiporter SLC25A25 isoform a

    See identical proteins and their annotated locations for NP_443133.2

    Status: REVIEWED

    Source sequence(s)
    AL360268, AL590708
    Consensus CDS
    CCDS6890.1
    UniProtKB/Swiss-Prot
    Q5SYW7, Q5SYW8, Q5SYX3, Q5VWU2, Q5VWU3, Q5VWU4, Q6KCM4, Q6KCM6, Q6KCM7, Q6UX48, Q705K2, Q96PZ1, Q9BSA6
    Related
    ENSP00000362155.5, ENST00000373064.9
    Conserved Domains (3) summary
    cd15897
    Location:53 → 77
    EFh_PEF; EF-hand motif [structural motif]
    cl25352
    Location:53 → 139
    EFh_PEF; The penta-EF hand (PEF) family
    cl28162
    Location:191 → 445
    Mito_carr; Mitochondrial carrier protein

RNA

  1. NR_049766.3 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL360268, AL590708
    Related
    ENST00000683206.1

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_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    128068232..128109245
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    140276208..140317210
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001006643.1: Suppressed sequence

    Description
    NM_001006643.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6KCM7.1 GenPept UniProtKB/Swiss-Prot:Q6KCM7

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