KEGG   Homo sapiens (human): 8604
Entry
8604              CDS       T01001                                 
Symbol
SLC25A12, AGC1, ARALAR, DEE39, EIEE39
Name
(RefSeq) solute carrier family 25 member 12
  KO
K15105  solute carrier family 25 (mitochondrial aspartate/glutamate transporter), member 12/13
Organism
hsa  Homo sapiens (human)
Disease
H00606  Early infantile epileptic encephalopathy
H01305  Global cerebral hypomyelination
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   02000 Transporters [BR:hsa02000]
    8604 (SLC25A12)
Transporters [BR:hsa02000]
 Solute carrier family (SLC)
  SLC25: Mitochondrial carrier
   8604 (SLC25A12)
SSDB
Motif
Pfam: Mito_carr EF-hand_7 EF-hand_1 EF-hand_6
Other DBs
NCBI-GeneID: 8604
NCBI-ProteinID: NP_003696
OMIM: 603667
HGNC: 10982
Ensembl: ENSG00000115840
UniProt: O75746
Structure
Position
2:complement(171783405..171894244)
AA seq 678 aa
MAVKVQTTKRGDPHELRNIFLQYASTEVDGERYMTPEDFVQRYLGLYNDPNSNPKIVQLL
AGVADQTKDGLISYQEFLAFESVLCAPDSMFIVAFQLFDKSGNGEVTFENVKEIFGQTII
HHHIPFNWDCEFIRLHFGHNRKKHLNYTEFTQFLQELQLEHARQAFALKDKSKSGMISGL
DFSDIMVTIRSHMLTPFVEENLVSAAGGSISHQVSFSYFNAFNSLLNNMELVRKIYSTLA
GTRKDVEVTKEEFAQSAIRYGQVTPLEIDILYQLADLYNASGRLTLADIERIAPLAEGAL
PYNLAELQRQQSPGLGRPIWLQIAESAYRFTLGSVAGAVGATAVYPIDLVKTRMQNQRGS
GSVVGELMYKNSFDCFKKVLRYEGFFGLYRGLIPQLIGVAPEKAIKLTVNDFVRDKFTRR
DGSVPLPAEVLAGGCAGGSQVIFTNPLEIVKIRLQVAGEITTGPRVSALNVLRDLGIFGL
YKGAKACFLRDIPFSAIYFPVYAHCKLLLADENGHVGGLNLLAAGAMAGVPAASLVTPAD
VIKTRLQVAARAGQTTYSGVIDCFRKILREEGPSAFWKGTAARVFRSSPQFGVTLVTYEL
LQRWFYIDFGGLKPAGSEPTPKSRIADLPPANPDHIGGYRLATATFAGIENKFGLYLPKF
KSPSVAVVQPKAAVAATQ
NT seq 2037 nt   +upstreamnt  +downstreamnt
atggcggtcaaggtgcagacaactaagcgaggggatcctcatgagttaagaaacatattt
ctacagtatgccagtactgaggttgatggagagcgttatatgaccccagaagactttgtt
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
gcagctcgagtgtttcgatcctctccccagtttggtgttaccttggtcacttatgaactt
ctccagcggtggttttacattgattttggaggcctcaaacccgctggttcagaaccaaca
cctaagtcacgcattgcagaccttcctcctgccaaccctgatcacatcggtggatacaga
ctcgccacagccacgtttgcaggcatcgaaaacaaatttggcctttatctcccgaaattt
aagtctcctagtgttgctgtggttcagccaaaggcagcagtggcagccactcagtga

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Disease (4)   
   KEGG DISEASE (2)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (11)   
   KEGG ORTHOLOGY (1)   
   RefGene (3)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
Protein sequence (6)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (4)   
DNA sequence (21)   
   RefSeq(nuc) (5)   
   GenBank (8)   
   EMBL (8)   
3D Structure (2)   
   PDB (2)   
Protein domain (4)   
   Pfam (4)   
All databases (51)   

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