Homo sapiens (human): 8604
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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)
BRITE hierarchy
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Gene cluster
GFIT
Motif
Pfam:
Mito_carr
EF-hand_7
EF-hand_1
EF-hand_6
Motif
Other DBs
NCBI-GeneID:
8604
NCBI-ProteinID:
NP_003696
OMIM:
603667
HGNC:
10982
Ensembl:
ENSG00000115840
UniProt:
O75746
Structure
PDB
PDBj
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All DBs
Position
2:complement(171783405..171894244)
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AA seq
678 aa
AA seq
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MAVKVQTTKRGDPHELRNIFLQYASTEVDGERYMTPEDFVQRYLGLYNDPNSNPKIVQLL
AGVADQTKDGLISYQEFLAFESVLCAPDSMFIVAFQLFDKSGNGEVTFENVKEIFGQTII
HHHIPFNWDCEFIRLHFGHNRKKHLNYTEFTQFLQELQLEHARQAFALKDKSKSGMISGL
DFSDIMVTIRSHMLTPFVEENLVSAAGGSISHQVSFSYFNAFNSLLNNMELVRKIYSTLA
GTRKDVEVTKEEFAQSAIRYGQVTPLEIDILYQLADLYNASGRLTLADIERIAPLAEGAL
PYNLAELQRQQSPGLGRPIWLQIAESAYRFTLGSVAGAVGATAVYPIDLVKTRMQNQRGS
GSVVGELMYKNSFDCFKKVLRYEGFFGLYRGLIPQLIGVAPEKAIKLTVNDFVRDKFTRR
DGSVPLPAEVLAGGCAGGSQVIFTNPLEIVKIRLQVAGEITTGPRVSALNVLRDLGIFGL
YKGAKACFLRDIPFSAIYFPVYAHCKLLLADENGHVGGLNLLAAGAMAGVPAASLVTPAD
VIKTRLQVAARAGQTTYSGVIDCFRKILREEGPSAFWKGTAARVFRSSPQFGVTLVTYEL
LQRWFYIDFGGLKPAGSEPTPKSRIADLPPANPDHIGGYRLATATFAGIENKFGLYLPKF
KSPSVAVVQPKAAVAATQ
NT seq
2037 nt
NT seq
+upstream
nt +downstream
nt
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
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