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Identification
HMDB Protein ID HMDBP03143
Secondary Accession Numbers
  • 8693
  • HMDBP07014
Name Calcium-binding mitochondrial carrier protein Aralar1
Synonyms
  1. Mitochondrial aspartate glutamate carrier 1
  2. Solute carrier family 25 member 12
Gene Name SLC25A12
Protein Type Unknown
Biological Properties
General Function Involved in transporter activity
Specific Function Catalyzes the calcium-dependent exchange of cytoplasmic glutamate with mitochondrial aspartate across the mitochondrial inner membrane. May have a function in the urea cycle.
Pathways
  • Argininemia
  • Argininosuccinic Aciduria
  • Carbamoyl Phosphate Synthetase Deficiency
  • Citrullinemia Type I
  • Malate-Aspartate Shuttle
  • Ornithine Transcarbamylase Deficiency (OTC Deficiency)
  • Urea Cycle
Reactions Not Available
GO Classification
Biological Process
small molecule metabolic process
response to calcium ion
gluconeogenesis
malate-aspartate shuttle
Cellular Component
integral to membrane
mitochondrial inner membrane
Component
membrane
cell part
organelle membrane
organelle inner membrane
mitochondrial inner membrane
Function
ion binding
cation binding
metal ion binding
binding
transporter activity
calcium ion binding
Molecular Function
calcium ion binding
L-aspartate transmembrane transporter activity
L-glutamate transmembrane transporter activity
Process
establishment of localization
transport
transmembrane transport
Cellular Location
  1. Mitochondrion inner membrane
  2. Multi-pass membrane protein
Gene Properties
Chromosome Location 2
Locus 2q24
SNPs SLC25A12
Gene Sequence
>2037 bp
ATGGCGGTCAAGGTGCAGACAACTAAGCGAGGGGATCCTCATGAGTTAAGAAACATATTT
CTACAGTATGCCAGTACTGAGGTTGATGGAGAGCGTTACATGACCCCAGAAGACTTTGTT
CAGCGCTATCTTGGACTGTATAATGATCCAAATAGTAACCCAAAGATCGTGCAGCTCTTG
GCAGGAGTAGCTGATCAAACCAAGGATGGGTTGATCTCCTATCAAGAGTTTTTGGCATTT
GAATCTGTTTTATGTGCTCCAGATTCCATGTTCATAGTGGCTTTCCAGTTGTTTGACAAG
AGTGGAAATGGAGAGGTGACATTTGAAAATGTCAAAGAAATTTTTGGACAGACTATTATT
CATCATCATATCCCTTTTAACTGGGATTGTGAATTTATCCGACTGCATTTTGGGCATAAC
CGGAAGAAGCATCTTAACTACACAGAATTCACGCAGTTTCTCCAGGAGCTGCAATTGGAA
CATGCAAGACAAGCCTTTGCACTCAAAGACAAAAGCAAAAGTGGCATGATTTCTGGTCTG
GATTTCAGTGACATCATGGTTACCATTAGATCTCACATGCTTACTCCTTTTGTGGAGGAG
AACTTAGTTTCAGCAGCTGGAGGAAGTATCTCACACCAGGTTAGCTTCTCCTACTTCAAT
GCATTTAACTCGTTACTGAATAACATGGAGCTTGTTCGTAAGATATATAGCACTCTAGCT
GGCACAAGGAAAGATGTTGAAGTCACAAAGGAGGAATTTGCCCAGAGTGCCATACGCTAT
GGACAAGTCACACCACTAGAAATTGATATTCTATATCAGCTTGCAGACTTATATAATGCT
TCAGGGCGCTTGACTTTGGCAGATATTGAGAGAATAGCCCCATTGGCTGAGGGGGCCTTA
CCTTACAACCTGGCAGAACTTCAGAGACAGCAGTCTCCTGGGTTAGGCAGGCCTATCTGG
CTCCAGATTGCCGAGTCTGCTTACAGATTCACTCTGGGCTCAGTTGCTGGAGCTGTGGGA
GCCACTGCAGTGTATCCTATAGATCTGGTGAAGACCCGAATGCAAAACCAGCGTGGCTCT
GGCTCTGTTGTTGGGGAGCTAATGTACAAAAACAGCTTTGACTGTTTTAAGAAAGTCTTG
CGTTATGAGGGCTTCTTTGGACTCTACAGGGGTCTGATACCACAACTTATAGGGGTTGCT
CCAGAAAAGGCCATTAAACTGACTGTTAATGATTTTGTTCGGGACAAATTTACCAGAAGA
GATGGCTCTGTTCCACTTCCAGCAGAAGTTCTTGCTGGAGGCTGTGCTGGAGGCTCTCAG
GTCATTTTTACCAACCCATTGGAGATAGTGAAGATTCGTCTGCAAGTAGCTGGAGAGATC
ACCACGGGACCCAGAGTCAGCGCCCTGAATGTGCTCCGGGACTTGGGAATTTTTGGTCTG
TATAAGGGTGCCAAAGCGTGTTTCCTCCGAGACATTCCCTTCTCTGCAATCTATTTTCCT
GTTTATGCTCATTGCAAACTACTTCTGGCTGATGAAAATGGACACGTGGGAGGTTTAAAT
CTTCTTGCAGCTGGAGCCATGGCAGGTGTCCCAGCTGCATCTCTGGTGACCCCTGCTGAT
GTCATCAAGACAAGACTGCAGGTGGCTGCCCGCGCTGGCCAGACGACATACAGTGGTGTC
ATCGACTGTTTCAGGAAGATTCTCCGGGAAGAAGGGCCCTCAGCATTTTGGAAAGGGACT
GCAGCTCGAGTGTTTCGATCCTCTCCCCAGTTTGGTGTTACCTTGGCTCATTATGAAGTT
CTCCAGCGGTGGTTTTACATTGATTTTGGAGGCCTCAAACCCGCTGGTTCAGAACCAACA
CCTAAGTCACGCATTGCAGACCTTCCTCCTGCCAACCCTGATCACATCGGTGGATACAGA
CTCGCCACAGCCACGTTTGCAGGCATCGAAAACAAATTTGGCCTTTATCTCCCGAAATTT
AAGTCTCCTAGTGTTGCTGTGGTTCAGCCAAAGGCAGCAGTGGCAGCCACTCAGTGA
Protein Properties
Number of Residues 678
Molecular Weight 74761.225
Theoretical pI 8.387
Pfam Domain Function
Signals Not Available
Transmembrane Regions Not Available
Protein Sequence
>Calcium-binding mitochondrial carrier protein Aralar1
MAVKVQTTKRGDPHELRNIFLQYASTEVDGERYMTPEDFVQRYLGLYNDPNSNPKIVQLL
AGVADQTKDGLISYQEFLAFESVLCAPDSMFIVAFQLFDKSGNGEVTFENVKEIFGQTII
HHHIPFNWDCEFIRLHFGHNRKKHLNYTEFTQFLQELQLEHARQAFALKDKSKSGMISGL
DFSDIMVTIRSHMLTPFVEENLVSAAGGSISHQVSFSYFNAFNSLLNNMELVRKIYSTLA
GTRKDVEVTKEEFAQSAIRYGQVTPLEIDILYQLADLYNASGRLTLADIERIAPLAEGAL
PYNLAELQRQQSPGLGRPIWLQIAESAYRFTLGSVAGAVGATAVYPIDLVKTRMQNQRGS
GSVVGELMYKNSFDCFKKVLRYEGFFGLYRGLIPQLIGVAPEKAIKLTVNDFVRDKFTRR
DGSVPLPAEVLAGGCAGGSQVIFTNPLEIVKIRLQVAGEITTGPRVSALNVLRDLGIFGL
YKGAKACFLRDIPFSAIYFPVYAHCKLLLADENGHVGGLNLLAAGAMAGVPAASLVTPAD
VIKTRLQVAARAGQTTYSGVIDCFRKILREEGPSAFWKGTAARVFRSSPQFGVTLVTYEL
LQRWFYIDFGGLKPAGSEPTPKSRIADLPPANPDHIGGYRLATATFAGIENKFGLYLPKF
KSPSVAVVQPKAAVAATQ
GenBank ID Protein 3559910
UniProtKB/Swiss-Prot ID O75746
UniProtKB/Swiss-Prot Entry Name CMC1_HUMAN
PDB IDs Not Available
GenBank Gene ID Y14494
GeneCard ID SLC25A12
GenAtlas ID SLC25A12
HGNC ID HGNC:10982
References
General References
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  3. Kobayashi K, Sinasac DS, Iijima M, Boright AP, Begum L, Lee JR, Yasuda T, Ikeda S, Hirano R, Terazono H, Crackower MA, Kondo I, Tsui LC, Scherer SW, Saheki T: The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein. Nat Genet. 1999 Jun;22(2):159-63. [PubMed:10369257 ]
  4. Palmieri L, Pardo B, Lasorsa FM, del Arco A, Kobayashi K, Iijima M, Runswick MJ, Walker JE, Saheki T, Satrustegui J, Palmieri F: Citrin and aralar1 are Ca(2+)-stimulated aspartate/glutamate transporters in mitochondria. EMBO J. 2001 Sep 17;20(18):5060-9. [PubMed:11566871 ]
  5. del Arco A, Satrustegui J: Molecular cloning of Aralar, a new member of the mitochondrial carrier superfamily that binds calcium and is present in human muscle and brain. J Biol Chem. 1998 Sep 4;273(36):23327-34. [PubMed:9722566 ]
  6. Wibom R, Lasorsa FM, Tohonen V, Barbaro M, Sterky FH, Kucinski T, Naess K, Jonsson M, Pierri CL, Palmieri F, Wedell A: AGC1 deficiency associated with global cerebral hypomyelination. N Engl J Med. 2009 Jul 30;361(5):489-95. doi: 10.1056/NEJMoa0900591. [PubMed:19641205 ]