Format

Send to:

Choose Destination
    • Showing Current items.

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

    Gene ID: 10165, updated on 11-Jul-2021

    Summary

    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
    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; NICCD; 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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SLC25A13 in Genome Data Viewer
    Location:
    7q21.3
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (96120220..96322127, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (95749532..95951410, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene dynein cytoplasmic 1 intermediate chain 1 Neighboring gene eExon 15 DLX5/6 limb enhancer Neighboring gene eExon 17 DLX5/6 limb enhancer Neighboring gene eDlx#23 enhancer in SHFM1 region Neighboring gene CYCS pseudogene 18 Neighboring gene VISTA enhancer hs1642 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

    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?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in ATP biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in L-aspartate transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in L-glutamate transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in L-glutamate transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in aspartate family amino acid metabolic process TAS
    Traceable Author Statement
    more info
     
    involved_in aspartate transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in aspartate transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular respiration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in gluconeogenesis TAS
    Traceable Author Statement
    more info
     
    involved_in malate-aspartate shuttle IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in malate-aspartate shuttle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in mitochondrial transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in response to calcium ion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in integral component of plasma membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in mitochondrial inner membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    calcium-binding mitochondrial carrier protein Aralar2
    Names
    mitochondrial aspartate glutamate carrier 2
    solute carrier family 25 (aspartate/glutamate carrier), member 13

    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_012247.2 RefSeqGene

      Range
      5050..206928
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001160210.2NP_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_014251.3NP_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
      ENSP00000265631.6, ENST00000265631.10
      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_027662.2 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 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_000007.14 Reference GRCh38.p13 Primary Assembly

      Range
      96120220..96322127 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. 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
    2. XM_017011664.2XP_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
    3. XM_006715831.4XP_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_011515727.3XP_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_001744525.2 RNA Sequence

    2. XR_002956405.1 RNA Sequence

    Support Center