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    SLC25A1 solute carrier family 25 member 1 [ Homo sapiens (human) ]

    Gene ID: 6576, updated on 8-Jul-2021

    Summary

    Official Symbol
    SLC25A1provided by HGNC
    Official Full Name
    solute carrier family 25 member 1provided by HGNC
    Primary source
    HGNC:HGNC:10979
    See related
    Ensembl:ENSG00000100075 MIM:190315
    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
    CTP; SEA; CMS23; D2L2AD; SLC20A3
    Summary
    This gene encodes a member of the mitochondrial carrier subfamily of solute carrier proteins. Members of this family include nuclear-encoded transporters that translocate small metabolites across the mitochondrial membrane. This protein regulates the movement of citrate across the inner membranes of the mitochondria. Mutations in this gene have been associated with combined D-2- and L-2-hydroxyglutaric aciduria. Pseudogenes of this gene have been identified on chromosomes 7, 11, 16, and 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
    Expression
    Ubiquitous expression in fat (RPKM 63.8), kidney (RPKM 36.9) and 25 other tissues See more
    Orthologs
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    Genomic context

    See SLC25A1 in Genome Data Viewer
    Location:
    22q11.21
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (19175581..19178736, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (19163094..19166249, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene goosecoid homeobox 2 Neighboring gene long intergenic non-protein coding RNA 1311 Neighboring gene clathrin heavy chain like 1 Neighboring gene uncharacterized LOC112268289 Neighboring gene ribosomal protein L34 pseudogene 35

    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
    Combined d-2- and l-2-hydroxyglutaric aciduria
    MedGen: C2746066 OMIM: 615182 GeneReviews: Not available
    Compare labs
    Congenital myasthenic syndrome Compare labs
    Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
    GeneReviews: Not available
    Myasthenic syndrome, congenital, 23, presynaptic
    MedGen: C4748678 OMIM: 618197 GeneReviews: Not available
    Compare labs
    Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
    GeneReviews: Not available

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    General protein information

    Preferred Names
    tricarboxylate transport protein, mitochondrial
    Names
    citrate transport protein
    solute carrier family 20 (mitochondrial citrate transporter), member 3
    solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1
    tricarboxylate carrier protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_033863.1 RefSeqGene

      Range
      5128..8283
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001256534.2NP_001243463.1  tricarboxylate transport protein, mitochondrial isoform b

      See identical proteins and their annotated locations for NP_001243463.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and 5' coding region, and uses an alternate start codon, compared to variant 1. The encoded isoform (b, also known as pmCiC) has a distinct and longer N-terminus, compared to isoform a. This isoform is supported by data in PMID:20448665.
      Source sequence(s)
      BC018590, BG473148, BP265446, HM037273
      UniProtKB/TrEMBL
      D9HTE9
      Conserved Domains (2) summary
      PTZ00169
      Location:38311
      PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
      pfam00153
      Location:223313
      Mito_carr; Mitochondrial carrier protein
    2. NM_001287387.2NP_001274316.1  tricarboxylate transport protein, mitochondrial isoform c

      See identical proteins and their annotated locations for NP_001274316.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. This encodes isoform c, which has a shorter N-terminus compared to isoform a.
      Source sequence(s)
      BC018590, BP265446
      Consensus CDS
      CCDS74817.1
      UniProtKB/TrEMBL
      B4DP62
      Related
      ENSP00000401480.1, ENST00000451283.5
      Conserved Domains (1) summary
      pfam00153
      Location:113203
      Mito_carr; Mitochondrial carrier protein
    3. NM_005984.5NP_005975.1  tricarboxylate transport protein, mitochondrial isoform a precursor

      See identical proteins and their annotated locations for NP_005975.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the shorter isoform (a, also known as mCiC).
      Source sequence(s)
      BC018590, HY040162
      Consensus CDS
      CCDS13758.1
      UniProtKB/Swiss-Prot
      P53007
      Related
      ENSP00000215882.5, ENST00000215882.10
      Conserved Domains (2) summary
      PTZ00169
      Location:30304
      PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
      pfam00153
      Location:24114
      Mito_carr; Mitochondrial carrier protein

    RNA

    1. NR_046298.3 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AW161974, BC018590, BI159897

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

      Range
      19175581..19178736 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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