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FLASH GENE
Symbol SLC25A13 contributors: mct - updated : 14-09-2013
HGNC name solute carrier family 25, member 13 (citrin)
HGNC id 10983
Corresponding disease
CTLN2 citrulinemia, type II
Location 7q21.3      Physical location : 95.749.532 - 95.951.459
Synonym name mitochondrial aspartate/glutamate carrier
Synonym symbol(s) ARALAR2, CITRIN, AGC2
DNA
TYPE functioning gene
STRUCTURE 201.93 kb     18 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Physical map
COL1A2 7q21.3 collagen, type I, alpha 2 CAS1 7q21.3 O-acetyltransferase SGCE 7q21.3 sarcoglycan, epsilon PEG10 7q21 paternally expressed 10 LOC392073 7 similar to ribosomal protein S3a; 40S ribosomal protein S3a; v-fos transformation effector protein 1 LOC392074 7 similar to dJ133P16.1 (ADP-ribosylation factor 1) PPP1R9A 7q21 protein phosphatase 1, regulatory (inhibitor) subunit 9A PON1 7q21.3 paraoxonase 1 PON3 7q21.3 paraoxonase 3 PON2 7q21.3 paraoxonase 2 ASB4 7q21-q22 ankyrin repeat and SOCS box-containing 4 PDK4 7q21.3 pyruvate dehydrogenase kinase, isoenzyme 4 LOC389533 7 LOC389533 DNCI1 7q21.3 dynein, cytoplasmic, intermediate polypeptide 1 SLC25A13 7q21.3 solute carrier family 25, member 13 (citrin) HCP18 7q21.3 cytochrome c, somatic pseudogene SHFM1 LOC392075 7 similar to Ser/Thr protein kinase PAR-1Balpha DLX6 7q21.3 distal-less homeo box 6 DLX5 7q21.3 distal-less homeo box 5 ACN9 7q22.1 ACN9 homolog (S. cerevisiae) LOC392076 7 similar to Rpl7a protein TAC1 7q21.3-q22.1 tachykinin, precursor 1 (substance K, substance P, neurokinin 1, neurokinin 2, neuromedin L, neurokinin alpha, neuropeptide K, neuropeptide gamma) ASNS 7q21.3 asparagine synthetase LOC389534 7 LOC389534 LOC389535 7 similar to hypothetical protein LOC286031 LOC389536 7 similar to seven transmembrane helix receptor
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
18 - 3204 74 675 - 2001 11566871
18 - 3207 - 676 - 2001 11566871
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver     Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period pregnancy
Text placenta
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • four putative EF hand calcium binding domains in the cytosolic N terminal region
  • six transmembrane segments
  • three solcar repeats
  • a cytosolic C terminal tail with three tandemly repeated mitochondrial carrier protein domains
  • HOMOLOGY
    Homologene
    FAMILY
  • solute carrier family 25
  • mitochondrial carrier family
  • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,mitochondria,interspace
    intracellular,cytoplasm,organelle,membrane
    text integral membrane protein, N terminal region in the interspace C terminus in the inner membrane
    basic FUNCTION
  • calcium dependent mitochondrial carrier protein,isoform of the aspartate/glutamate exchanger, may be having a function in the urea cycle
  • plays a significant role in nitrogen metabolism by virtue of its shuttle activity
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS mitochondrial transport
    text energy transfer
    PATHWAY
    metabolism energetic
    signaling
    a component
  • components of the malate aspartate shuttle (MAS), a major intracellular pathway to transfer reducing equivalents from NADH to the mitochondrial matrix
  • INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Ca2+
  • protein
  • substrate for the TIMM8A/TIMM13 complex
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CTLN2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    induces apoptosis of hepatocytes through the mitochondrial death pathway, highlighting the importance of citrin in survival of hepatocytes and maintenance of liver function
    tumoral somatic mutation      
    in nonviral hepatocellular carcinoma
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS