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_1 EF-hand_7 EF-hand_6 EF-hand_8
Other DBs
NCBI-GeneID: 8604
NCBI-ProteinID: NP_003696
OMIM: 603667
HGNC: 10982
Ensembl: ENSG00000115840
Pharos: O75746(Tbio)
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 (12)   
   KEGG ORTHOLOGY (1)   
   RefGene (3)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
   PHAROS (1)   
Protein sequence (4)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (2)   
DNA sequence (19)   
   RefSeq(nuc) (3)   
   GenBank (8)   
   EMBL (8)   
3D Structure (2)   
   PDB (2)   
Protein domain (5)   
   Pfam (5)   
All databases (49)   

Download RDF
DBGET integrated database retrieval system