Homo sapiens (human): 23229
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Entry
23229 CDS
T01001
Symbol
ARHGEF9, COLLYBISTIN, DEE8, EIEE8, HPEM-2, PEM-2, PEM2
Name
(RefSeq) rho guanine nucleotide exchange factor 9 isoform 1
KO
K20686
Rho guanine nucleotide exchange factor 9
Organism
hsa
Homo sapiens (human)
Network
nt06544
Neuroactive ligand signaling
Element
N01890
Gephyrin-containing complex at inhibitory synapse
Disease
H00606
Early infantile epileptic encephalopathy
H02353
Hyperekplexia and epilepsy
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09180 Brite Hierarchies
09182 Protein families: genetic information processing
04131 Membrane trafficking [BR:
hsa04131
]
23229 (ARHGEF9)
Membrane trafficking [BR:
hsa04131
]
Others
Rho GTPase associated proteins
Rho guanine nucleotide exchange factors (GEFs)
23229 (ARHGEF9)
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GFIT
Motif
Pfam:
RhoGEF
SOS1_NGEF_PH
SH3_2
SH3_1
PH
SH3_9
SH3_3
CSD
DUF7390
Motif
Other DBs
NCBI-GeneID:
23229
NCBI-ProteinID:
NP_001355959
OMIM:
300429
HGNC:
14561
UniProt:
O43307
Structure
PDB
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All DBs
Position
X:complement(63634967..63785214)
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AA seq
516 aa
AA seq
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MTLLITGDSIVSAEAVWDHVTMANRELAFKAGDVIKVLDASNKDWWWGQIDDEEGWFPAS
FVRLWVNQEDEVEEGPSDVQNGHLDPNSDCLCLGRPLQNRDQMRANVINEIMSTERHYIK
HLKDICEGYLKQCRKRRDMFSDEQLKVIFGNIEDIYRFQMGFVRDLEKQYNNDDPHLSEI
GPCFLEHQDGFWIYSEYCNNHLDACMELSKLMKDSRYQHFFEACRLLQQMIDIAIDGFLL
TPVQKICKYPLQLAELLKYTAQDHSDYRYVAAALAVMRNVTQQINERKRRLENIDKIAQW
QASVLDWEGEDILDRSSELIYTGEMAWIYQPYGRNQQRVFFLFDHQMVLCKKDLIRRDIL
YYKGRIDMDKYEVVDIEDGRDDDFNVSMKNAFKLHNKETEEIHLFFAKKLEEKIRWLRAF
REERKMVQEDEKIGFEISENQKRQAAMTVRKVPKQKGVNSARSVPPSYPPPQDPLNHGQY
LVPDGIAQSQVFEFTEPKRSQSPFWQNFSRLTPFKK
NT seq
1551 nt
NT seq
+upstream
nt +downstream
nt
atgacgttgctgatcactggagattccatcgttagtgctgaggcagtatgggatcacgtc
accatggccaaccgggagttggcatttaaagctggcgacgtcatcaaagtcttggatgct
tccaacaaggattggtggtggggccagatcgacgatgaggagggatggtttcctgccagc
tttgtgaggctctgggtgaaccaggaggatgaggtggaggaggggcccagcgatgtgcag
aacggacacctggaccccaattcagactgcctctgtctggggcggccactacagaaccgg
gaccagatgcgggccaatgtcatcaatgagataatgagcactgagcgtcactacatcaag
cacctcaaggatatttgtgagggctatctgaagcagtgccggaagagaagggacatgttc
agtgacgagcaactgaaggtaatctttgggaacattgaagatatctacagatttcagatg
ggctttgtgagagacctggagaaacagtataacaatgatgacccccacctcagcgagata
ggaccctgcttcctagagcaccaagatggattctggatatactctgagtattgtaacaac
cacctggatgcttgcatggagctctccaaactgatgaaggacagccgctaccagcacttc
tttgaggcctgtcgcctcttgcagcagatgattgacattgctatcgatggtttccttttg
actccagtgcagaagatctgcaagtatcccttacagttggctgagctcctaaagtatact
gcccaagaccacagtgactacaggtatgtggcagctgctttggctgtcatgagaaatgtg
actcagcagatcaacgaacgcaagcgacgtttagagaatattgacaagattgctcagtgg
caggcttctgtcctagactgggagggcgaggacatcctagacaggagctcggagctgatc
tacactggggagatggcctggatctaccagccctacggccgcaaccagcagcgggtcttc
ttcctgtttgaccaccagatggtcctctgcaagaaggacctaatccggagagacatcctg
tactacaaaggccgcattgacatggataaatatgaggtagttgacattgaggatggcaga
gatgatgacttcaatgtcagcatgaagaatgcctttaagcttcacaacaaggagactgag
gagatacatctgttctttgccaagaagctggaggaaaaaatacgctggctcagggctttc
agagaagagaggaaaatggtacaggaagatgaaaaaattggctttgaaatttctgaaaac
cagaagaggcaggctgcaatgactgtgagaaaagtccctaagcaaaaaggtgtcaactct
gcccgctcagttcctccttcctacccaccaccgcaggacccgttaaaccacggccagtac
ctggtccccgacggcatcgctcagtcgcaggtctttgagttcaccgaacccaagcgcagc
cagtcaccattctggcaaaacttcagcaggttaacccccttcaaaaaatga
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