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    SLC25A13 solute carrier family 25 member 13 [ Homo sapiens (human) ]

    Gene ID: 10165, updated on 17-Feb-2018
    Official Symbol
    SLC25A13provided by HGNC
    Official Full Name
    solute carrier family 25 member 13provided by HGNC
    Primary source
    HGNC:HGNC:10983
    See related
    Ensembl:ENSG00000004864 MIM:603859; Vega:OTTHUMG00000023074
    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
    CTLN2; CITRIN; ARALAR2
    Summary
    This gene is a member of the mitochondrial carrier family. The encoded protein contains four EF-hand Ca(2+) binding motifs in the N-terminal domain, and localizes to mitochondria. The protein catalyzes the exchange of aspartate for glutamate and a proton across the inner mitochondrial membrane, and is stimulated by calcium on the external side of the inner mitochondrial membrane. Mutations in this gene result in citrullinemia, type II. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
    Expression
    Ubiquitous expression in liver (RPKM 31.0), kidney (RPKM 12.7) and 23 other tissues See more
    Orthologs
    Location:
    7q21.3
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 7 NC_000007.14 (96120220..96322147, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (95749532..95951459, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375409 Neighboring gene uncharacterized LOC105375408 Neighboring gene dynein cytoplasmic 1 intermediate chain 1 Neighboring gene cytochrome c, somatic pseudogene 18 Neighboring gene microRNA 591 Neighboring gene ribosomal protein L21 pseudogene 74 Neighboring gene RNA, U6 small nuclear 532, pseudogene Neighboring gene RNA, U6 small nuclear 364, pseudogene

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
    NHGRI GWA Catalog
    • Gluconeogenesis, organism-specific biosystem (from REACTOME)
      Gluconeogenesis, organism-specific biosystemThe reactions of gluconeogenesis convert mitochondrial pyruvate to cytosolic glucose 6-phosphate which in turn can be hydrolyzed to glucose and exported from the cell. Gluconeogenesis is confined to ...
    • Glucose metabolism, organism-specific biosystem (from REACTOME)
      Glucose metabolism, organism-specific biosystemGlucose is the major form in which dietary sugars are made available to cells of the human body. Its breakdown is a major source of energy for all cells, and is essential for the brain and red blood ...
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of carbohydrates, organism-specific biosystem (from REACTOME)
      Metabolism of carbohydrates, organism-specific biosystemThese pathways together are responsible for: 1) the extraction of energy and carbon skeletons for biosyntheses from dietary sugars and related molecules; 2) the short-term storage of glucose in the b...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • Mitochondrial protein import, organism-specific biosystem (from REACTOME)
      Mitochondrial protein import, organism-specific biosystemA human mitochondrion contains about 1500 proteins, more than 99% of which are encoded in the nucleus, synthesized in the cytosol and imported into the mitochondrion. Proteins are targeted to four lo...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    L-aspartate transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    L-glutamate transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acidic amino acid transmembrane transporter activity TAS
    Traceable Author Statement
    more info
     
    calcium ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transporter activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    ATP biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    L-glutamate transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    aspartate transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular respiration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    gluconeogenesis TAS
    Traceable Author Statement
    more info
     
    malate-aspartate shuttle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrial transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    response to calcium ion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    integral component of membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    integral component of plasma membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    mitochondrial inner membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    mitochondrial inner membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
     
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    calcium-binding mitochondrial carrier protein Aralar2
    Names
    mitochondrial aspartate glutamate carrier 2
    solute carrier family 25 (aspartate/glutamate carrier), member 13

    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_012247.1 RefSeqGene

      Range
      5001..206928
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001160210.1NP_001153682.1  calcium-binding mitochondrial carrier protein Aralar2 isoform 1

      See identical proteins and their annotated locations for NP_001153682.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AJ496569, DA118296, DA696723
      Consensus CDS
      CCDS55130.1
      UniProtKB/Swiss-Prot
      Q9UJS0
      Related
      ENSP00000400101.2, ENST00000416240.6
      Conserved Domains (4) summary
      pfam00153
      Location:517612
      Mito_carr; Mitochondrial carrier protein
      pfam13499
      Location:1681
      EF-hand_7; EF-hand domain pair
      cd15897
      Location:5783
      EFh_PEF; EF-hand motif [structural motif]
      cl25352
      Location:56183
      EFh_PEF; The penta-EF hand (PEF) family
    2. NM_014251.2NP_055066.1  calcium-binding mitochondrial carrier protein Aralar2 isoform 2

      See identical proteins and their annotated locations for NP_055066.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region, compared to variant 1. The resulting isoform (2) lacks one-aa, compared to isoform 1.
      Source sequence(s)
      AC004458, BC006566, DA118296
      Consensus CDS
      CCDS5645.1
      UniProtKB/Swiss-Prot
      Q9UJS0
      Related
      ENSP00000265631.5, OTTHUMP00000024692, ENST00000265631.9, OTTHUMT00000059395
      Conserved Domains (4) summary
      pfam00153
      Location:516611
      Mito_carr; Mitochondrial carrier protein
      pfam13499
      Location:1681
      EF-hand_7; EF-hand domain pair
      cd15897
      Location:5783
      EFh_PEF; EF-hand motif [structural motif]
      cl25352
      Location:56183
      EFh_PEF; The penta-EF hand (PEF) family

    RNA

    1. NR_027662.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate exon in the 5' coding region resulting in a frameshift, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK294629, BC006566, DA118296, DA696723

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p7 Primary Assembly

      Range
      96120220..96322147 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017011664.1XP_016867153.1  calcium-binding mitochondrial carrier protein Aralar2 isoform X4

      Conserved Domains (2) summary
      PTZ00168
      Location:43306
      PTZ00168; mitochondrial carrier protein; Provisional
      pfam00153
      Location:232327
      Mito_carr; Mitochondrial carrier protein
    2. XM_017011665.1XP_016867154.1  calcium-binding mitochondrial carrier protein Aralar2 isoform X4

      Conserved Domains (2) summary
      PTZ00168
      Location:43306
      PTZ00168; mitochondrial carrier protein; Provisional
      pfam00153
      Location:232327
      Mito_carr; Mitochondrial carrier protein
    3. XM_006715831.3XP_006715894.1  calcium-binding mitochondrial carrier protein Aralar2 isoform X1

      Conserved Domains (4) summary
      PTZ00168
      Location:338601
      PTZ00168; mitochondrial carrier protein; Provisional
      pfam00153
      Location:527622
      Mito_carr; Mitochondrial carrier protein
      pfam13499
      Location:2892
      EF-hand_7; EF-hand domain pair
      cl08302
      Location:3092
      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. XM_017011663.1XP_016867152.1  calcium-binding mitochondrial carrier protein Aralar2 isoform X2

    5. XM_011515727.2XP_011514029.1  calcium-binding mitochondrial carrier protein Aralar2 isoform X3

      Conserved Domains (3) summary
      pfam00153
      Location:340433
      Mito_carr; Mitochondrial carrier protein
      pfam13499
      Location:2892
      EF-hand_7; EF-hand domain pair
      cl08302
      Location:3092
      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 ...

    RNA

    1. XR_001744525.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018918.2 Alternate CHM1_1.1

      Range
      95679529..95881481 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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