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2.A.29.14.2
Mitochondrial Ca2+-activated aspartate/glutamate antiporter carrier with Ca2+-binding EF-hand domain, Citrin (defects in humans cause type II citrullinemia)

Accession Number:Q9UJS0
Protein Name:CMC2 aka SLC25A13 or ARALAR2
Length:675
Molecular Weight:74176.00
Species:Homo sapiens (Human) [9606]
Location1 / Topology2 / Orientation3: Mitochondrion inner membrane1 / Multi-pass membrane protein2
Substrate Ca2+, aspartate, glutamate

Cross database links:

HOG000180633
Genevestigator: Q9UJS0 Q9UJS0
eggNOG: prNOG18042 NOG292991
RefSeq: NP_055066.1   
Entrez Gene ID: 10165   
Pfam: PF00153   
Drugbank: Drugbank Link   
OMIM: 603471  phenotype
603859  gene
605814  phenotype
KEGG: hsa:10165   

Gene Ontology

GO:0005887 C:integral to plasma membrane
GO:0005743 C:mitochondrial inner membrane
GO:0005509 F:calcium ion binding
GO:0015183 F:L-aspartate transmembrane transporter activity
GO:0005313 F:L-glutamate transmembrane transporter activity
GO:0015810 P:aspartate transport
GO:0006754 P:ATP biosynthetic process
GO:0015813 P:L-glutamate transport
GO:0043490 P:malate-aspartate shuttle
GO:0051592 P:response to calcium ion
GO:0055085 P:transmembrane transport
GO:0006094 P:gluconeogenesis

References (17)

[1] “The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein.”  Kobayashi K.et.al.   10369257
[2] “Characterization of a second member of the subfamily of calcium-binding mitochondrial carriers expressed in human non-excitable tissues.”  Del Arco A.et.al.   10642534
[3] “The DNA sequence of human chromosome 7.”  Hillier L.W.et.al.   12853948
[4] “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).”  The MGC Project Teamet.al.   15489334
[5] “Genomic structure of the adult-onset type II citrullinemia gene, SLC25A13, and cloning and expression of its mouse homologue.”  Sinasac D.S.et.al.   10610724
[6] “Citrin and aralar1 are Ca(2+)-stimulated aspartate/glutamate transporters in mitochondria.”  Palmieri L.et.al.   11566871
[7] “Lysine acetylation targets protein complexes and co-regulates major cellular functions.”  Choudhary C.et.al.   19608861
[8] “Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations.”  Yamaguchi N.et.al.   11793471
[9] “The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein.”  Kobayashi K.et.al.   10369257
[10] “Characterization of a second member of the subfamily of calcium-binding mitochondrial carriers expressed in human non-excitable tissues.”  Del Arco A.et.al.   10642534
[11] “Citrin and aralar1 are Ca(2+)-stimulated aspartate/glutamate transporters in mitochondria.”  Palmieri L.et.al.   11566871
[12] “The DNA sequence of human chromosome 7.”  Hillier L.W.et.al.   12853948
[13] “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).”  The MGC Project Teamet.al.   15489334
[14] “Genomic structure of the adult-onset type II citrullinemia gene, SLC25A13, and cloning and expression of its mouse homologue.”  Sinasac D.S.et.al.   10610724
[15] “Lysine acetylation targets protein complexes and co-regulates major cellular functions.”  Choudhary C.et.al.   19608861
[16] “Initial characterization of the human central proteome.”  Burkard T.R.et.al.   21269460
[17] “Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations.”  Yamaguchi N.et.al.   11793471
Structure:
4P5W     

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FASTA formatted sequence
1:	MAAAKVALTK RADPAELRTI FLKYASIEKN GEFFMSPNDF VTRYLNIFGE SQPNPKTVEL 
61:	LSGVVDQTKD GLISFQEFVA FESVLCAPDA LFMVAFQLFD KAGKGEVTFE DVKQVFGQTT 
121:	IHQHIPFNWD SEFVQLHFGK ERKRHLTYAE FTQFLLEIQL EHAKQAFVQR DNARTGRVTA 
181:	IDFRDIMVTI RPHVLTPFVE ECLVAAAGGT TSHQVSFSYF NGFNSLLNNM ELIRKIYSTL 
241:	AGTRKDVEVT KEEFVLAAQK FGQVTPMEVD ILFQLADLYE PRGRMTLADI ERIAPLEEGT 
301:	LPFNLAEAQR QKASGDSARP VLLQVAESAY RFGLGSVAGA VGATAVYPID LVKTRMQNQR 
361:	STGSFVGELM YKNSFDCFKK VLRYEGFFGL YRGLLPQLLG VAPEKAIKLT VNDFVRDKFM 
421:	HKDGSVPLAA EILAGGCAGG SQVIFTNPLE IVKIRLQVAG EITTGPRVSA LSVVRDLGFF 
481:	GIYKGAKACF LRDIPFSAIY FPCYAHVKAS FANEDGQVSP GSLLLAGAIA GMPAASLVTP 
541:	ADVIKTRLQV AARAGQTTYS GVIDCFRKIL REEGPKALWK GAGARVFRSS PQFGVTLLTY 
601:	ELLQRWFYID FGGVKPMGSE PVPKSRINLP APNPDHVGGY KLAVATFAGI ENKFGLYLPL 
661:	FKPSVSTSKA IGGGP