KEGG   Homo sapiens (human): 23229
Entry
23229             CDS       T01001                                 
Symbol
ARHGEF9, COLLYBISTIN, DEE8, EIEE8, HPEM-2, PEM-2, PEM2
Name
(RefSeq) Cdc42 guanine nucleotide exchange factor 9
  KO
K20686  Rho guanine nucleotide exchange factor 9
Organism
hsa  Homo sapiens (human)
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)
SSDB
Motif
Pfam: RhoGEF SH3_2 SH3_1 PH SH3_9 SH3_3 CSD
Other DBs
NCBI-GeneID: 23229
NCBI-ProteinID: NP_056000
OMIM: 300429
HGNC: 14561
Ensembl: ENSG00000131089
UniProt: O43307
Structure
Position
X:complement(63634967..63785214)
AA seq 516 aa
MTLLITGDSIVSAEAVWDHVTMANRELAFKAGDVIKVLDASNKDWWWGQIDDEEGWFPAS
FVRLWVNQEDEVEEGPSDVQNGHLDPNSDCLCLGRPLQNRDQMRANVINEIMSTERHYIK
HLKDICEGYLKQCRKRRDMFSDEQLKVIFGNIEDIYRFQMGFVRDLEKQYNNDDPHLSEI
GPCFLEHQDGFWIYSEYCNNHLDACMELSKLMKDSRYQHFFEACRLLQQMIDIAIDGFLL
TPVQKICKYPLQLAELLKYTAQDHSDYRYVAAALAVMRNVTQQINERKRRLENIDKIAQW
QASVLDWEGEDILDRSSELIYTGEMAWIYQPYGRNQQRVFFLFDHQMVLCKKDLIRRDIL
YYKGRIDMDKYEVVDIEDGRDDDFNVSMKNAFKLHNKETEEIHLFFAKKLEEKIRWLRAF
REERKMVQEDEKIGFEISENQKRQAAMTVRKVPKQKGVNSARSVPPSYPPPQDPLNHGQY
LVPDGIAQSQVFEFTEPKRSQSPFWQNFSRLTPFKK
NT seq 1551 nt   +upstreamnt  +downstreamnt
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

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Disease (4)   
   KEGG DISEASE (2)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (10)   
   KEGG ORTHOLOGY (1)   
   RefGene (3)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (1)   
   OC (1)   
Protein sequence (29)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (27)   
DNA sequence (55)   
   RefSeq(nuc) (27)   
   GenBank (14)   
   EMBL (14)   
3D Structure (1)   
   PDB (1)   
Protein domain (7)   
   Pfam (7)   
All databases (109)   

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