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2.A.29.14.2
Mitochondrial Ca2+-activated aspartate/glutamate antiporter carrier with a Ca2+-binding EF-hand domain, Citrin of 675 aas and about 8 TMSs, 2 near the N-terminus and 6 nearer the C-terminus of the rotein. Defects in humans cause type II citrullinemia. Citrin deficiency is a rare metabolic disorder prevalent in East and Southeast Asia that affects liver or neurological function throughout various life stages. Early diagnosis and dietary management can improve prognosis for infant onset disease (Tsai et al. 2024).  Patients with a history of cholestasis caused by citrin deficiency during infancy have a greater incidence of ADHD than the general population, suggesting that metabolic disturbances during early childhood in individuals with citrin deficiency may have a long-term negative impact on their neurocognitive function (Tsai et al. 2024). A basic understanding of the etiology of citrin deficiency has been presented (Walker 2024).

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 calcium(2+), glutamate(2-), aspartate(2-)

Cross database links:

RefSeq: NP_055066.1   
Entrez Gene ID: 10165   
Pfam: PF00153   
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