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

Gene ID: 10165, updated on 10-Apr-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
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Genomic context

See SLC25A13 in Genome Data Viewer
Location:
7q21.3
Exon count:
21
Annotation release Status Assembly Chr Location
109.20210226 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?

Phenotypes

Associated conditions

Description Tests
Citrullinemia type II
MedGen: C1863844
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Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
GeneReviews: Not available
Neonatal intrahepatic cholestasis caused by citrin deficiency
MedGen: C1853942 OMIM: 605814
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Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
L-aspartate transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
L-aspartate transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
L-glutamate transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
L-glutamate transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
calcium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
identical protein binding IDA
Inferred from Direct Assay
more info
PubMed 
transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
ATP biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
L-aspartate transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
L-glutamate transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
L-glutamate transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
aspartate transmembrane transport IBA
Inferred from Biological aspect of Ancestor
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
integral component of plasma membrane NAS
Non-traceable Author Statement
more info
PubMed 
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 

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)

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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_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
    ENSP00000265631.5, ENST00000265631.9
    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 109.20210226

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

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