Homo sapiens (human): 79751
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Entry
79751 CDS
T01001
Symbol
SLC25A22, DEE3, EIEE3, GC-1, GC1, NET44
Name
(RefSeq) solute carrier family 25 member 22
KO
K15107
solute carrier family 25 (mitochondrial glutamate transporter), member 18/22
Organism
hsa
Homo sapiens (human)
Disease
H00606
Early infantile epileptic encephalopathy
H01819
Early myoclonic encephalopathy
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09180 Brite Hierarchies
09183 Protein families: signaling and cellular processes
02000 Transporters [BR:
hsa02000
]
79751 (SLC25A22)
Transporters [BR:
hsa02000
]
Solute carrier family (SLC)
SLC25: Mitochondrial carrier
79751 (SLC25A22)
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Gene cluster
GFIT
Motif
Pfam:
Mito_carr
Motif
Other DBs
NCBI-GeneID:
79751
NCBI-ProteinID:
NP_001177989
OMIM:
609302
HGNC:
19954
Ensembl:
ENSG00000177542
UniProt:
Q9H936
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Position
11:complement(790475..798281)
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AA seq
323 aa
AA seq
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MADKQISLPAKLINGGIAGLIGVTCVFPIDLAKTRLQNQQNGQRVYTSMSDCLIKTVRSE
GYFGMYRGAAVNLTLVTPEKAIKLAANDFFRHQLSKDGQKLTLLKEMLAGCGAGTCQVIV
TTPMEMLKIQLQDAGRIAAQRKILAAQGQLSAQGGAQPSVEAPAAPRPTATQLTRDLLRS
RGIAGLYKGLGATLLRDVPFSVVYFPLFANLNQLGRPASEEKSPFYVSFLAGCVAGSAAA
VAVNPCDVVKTRLQSLQRGVNEDTYSGILDCARKILRHEGPSAFLKGAYCRALVIAPLFG
IAQVVYFLGIAESLLGLLQDPQA
NT seq
972 nt
NT seq
+upstream
nt +downstream
nt
atggctgataagcagatcagcctgccagccaagctcatcaatggcggcatcgccgggctg
atcggtgtcacctgcgtgtttcccatcgacctggccaagaccaggctgcagaaccagcag
aacggccagcgcgtgtacacgagcatgtccgactgcctcatcaagaccgtccgctccgag
ggctacttcggcatgtaccggggagctgctgtgaacttgaccctcgtcacccccgagaag
gccatcaagctggcagccaacgacttcttccgacatcagctctctaaggacgggcagaag
ctgaccctgcttaaagagatgctggcgggctgtggggctggcacctgccaggtgatcgtg
accacgcccatggagatgctgaagatccagctgcaggatgcagggcgcattgccgcccag
aggaagatcctggctgcccagggccagctctcggcccaggggggtgcccagccctcagtg
gaggctccagctgcccctcggcccacggccacccagctgacccgcgacctgctgcggagc
cgtggcattgccggtctctacaagggactcggggccacgctgctcagggatgtccccttc
tctgtggtgtacttcccgctctttgccaacctgaaccagctgggccgcccggcgtccgag
gagaagtcgcctttctacgtgtccttcctggccggctgtgtggctgggagtgccgccgct
gtggccgtcaacccctgtgatgtggtgaagacgcggctccagtcacttcagcgaggcgtc
aacgaggacacctactctgggatcctggactgtgccaggaagatcctgcggcacgagggc
ccctcggccttcctgaagggcgcctactgccgcgcgctggtcatcgcgccccttttcggc
atcgcacaggtggtctacttcctgggcatcgcggagtccctgctggggctgctgcaggac
ccccaggcctga
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