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

Gene ID: 29957, updated on 1-Jun-2020

Summary

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
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

Genomic context

See SLC25A24 in Genome Data Viewer
Location:
1p13.3
Exon count:
11
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (108134043..108200343, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (108677344..108742980, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene vav guanine nucleotide exchange factor 3 Neighboring gene VAV3 antisense RNA 1 Neighboring gene long intergenic non-protein coding RNA 2785 Neighboring gene Sharpr-MPRA regulatory region 7876 Neighboring gene SLC25A24 pseudogene 1 Neighboring gene NBPF member 4

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Fontaine progeroid syndrome
MedGen: C2676780 OMIM: 612289 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp586G0123

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ATP transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
calcium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
ATP transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to calcium ion IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to oxidative stress IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrial transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of cell death IMP
Inferred from Mutant Phenotype
more info
PubMed 
transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial inner membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_013386.5NP_037518.3  calcium-binding mitochondrial carrier protein SCaMC-1 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
    Q6NUK1
    Related
    ENSP00000457733.1, ENST00000565488.6
    Conserved Domains (4) summary
    cd00051
    Location:2885
    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:199472
    PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
    pfam00153
    Location:194283
    Mito_carr; Mitochondrial carrier protein
    pfam13499
    Location:2584
    EF-hand_7; EF-hand domain pair
  2. NM_213651.3NP_998816.1  calcium-binding mitochondrial carrier protein SCaMC-1 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/Swiss-Prot
    Q6NUK1
    Related
    ENSP00000359058.4, ENST00000370041.4
    Conserved Domains (4) summary
    cd00051
    Location:1266
    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:180453
    PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
    pfam00153
    Location:175264
    Mito_carr; Mitochondrial carrier protein
    pfam13499
    Location:765
    EF-hand_7; EF-hand domain pair

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

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

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_017852928.1 Reference GRCh38.p13 PATCHES

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