KEGG   Homo sapiens (human): 121512
Entry
121512            CDS       T01001                                 
Symbol
FGD4, CMT4H, FRABP, ZFYVE6
Name
(RefSeq) FYVE, RhoGEF and PH domain containing 4
  KO
K05723  FYVE, RhoGEF and PH domain containing 4
Organism
hsa  Homo sapiens (human)
Disease
H00264  Charcot-Marie-Tooth disease
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04990 Domain-containing proteins not elsewhere classified [BR:hsa04990]
    121512 (FGD4)
Domain-containing proteins not elsewhere classified [BR:hsa04990]
 Pleckstrin homology (PH) domain-containing proteins
  Dbl-Like RhoGEF family proteins
   121512 (FGD4)
SSDB
Motif
Pfam: RhoGEF PH FYVE IQ_SEC7_PH FYVE_2 PH_13 PH_6 PH_16 Mcp5_PH C1_1 zf-RING_UBOX IBR
Other DBs
NCBI-GeneID: 121512
NCBI-ProteinID: NP_640334
OMIM: 611104
HGNC: 19125
Ensembl: ENSG00000139132
UniProt: Q96M96
Position
12:32399558..32646050
AA seq 766 aa
MEEIKPASASCVSKEKPSKVSDLISRFEGGSSLSNYSDLKKESAVNLNAPRTPGRHGLTT
TPQQKLLSQHLPQRQGNDTDKTQGAQTCVANGVMAAQNQMECEEEKAATLSSDTSIQASE
PLLDTHIVNGERDETATAPASPTTDSCDGNASDSSYRTPGIGPVLPLEERGAETETKVQE
RENGESPLELEQLDQHHEMKETNEQKLHKIANELLLTERAYVNRLDLLDQVFYCKLLEEA
NRGSFPAEMVNKIFSNISSINAFHSKFLLPELEKRMQEWETTPRIGDILQKLAPFLKMYG
EYVKGFDNAMELVKNMTERIPQFKSVVEEIQKQKICGSLTLQHHMLEPVQRIPRYEMLLK
DYLRKLPPDSLDWNDAKKSLEIISTAASHSNSAIRKMENLKKLLEIYEMLGEEEDIVNPS
NELIKEGQILKLAARNTSAQERYLFLFNNMLLYCVPKFSLVGSKFTVRTRVGIDGMKIVE
TQNEEYPHTFQVSGKERTLELQASSAQDKEEWIKALQETIDAFHQRHETFRNAIAKDNDI
HSEVSTAELGKRAPRWIRDNEVTMCMKCKEPFNALTRRRHHCRACGYVVCWKCSDYKAQL
EYDGGKLSKVCKDCYQIISGFTDSEEKKRKGILEIESAEVSGNSVVCSFLQYMEKSKPWQ
KAWCVIPKQDPLVLYMYGAPQDVRAQATIPLLGYVVDEMPRSADLPHSFKLTQSKSVHSF
AADSEELKQKWLKVILLAVTGETPGGPNEHPATLDDHPEPKKKSEC
NT seq 2301 nt   +upstreamnt  +downstreamnt
atggaggaaattaaacctgcctctgcttcttgtgtctcaaaagaaaaacccagtaaggta
tcagatctcatcagtcgctttgaaggaggcagctcattatcaaattatagtgatttgaag
aaagagtctgctgtgaacctaaatgctcctagaaccccaggaaggcatggattgacaacc
acacctcaacaaaaactcctctcccagcacttgccacagaggcagggaaatgatacagat
aagactcagggtgcacagacttgtgtggccaacggtgtaatggcagcacaaaaccagatg
gaatgtgaggaggagaaagctgccactcttagctcagatacttctattcaagcttctgaa
cccttgcttgatacgcacatagtgaatggagaaagagatgaaactgccacagctcctgca
tcacccacaacagacagctgtgatggaaatgcttctgacagtagctacaggactccaggc
ataggcccagtgctccccctagaagaaagaggggcagaaacagaaaccaaggtacaagag
agggaaaatggggaaagccctctggaactggagcagctggaccagcaccatgagatgaag
gagactaatgagcaaaaacttcacaaaatagccaatgaacttttgcttactgaaagagct
tatgtcaaccgacttgacctcttagatcaggtattttattgcaaactgttggaagaagca
aaccgaggctcgtttccagcagagatggtgaataaaatcttttctaatatttcatcaata
aatgccttccatagtaaattcctcttgccagagctggagaaacgaatgcaagaatgggaa
actactcctagaattggagacatccttcagaaattggcaccattccttaagatgtatgga
gaatatgtgaaaggatttgataatgcaatggaattggttaaaaacatgacagaacgtatt
ccccagttcaaatcagtggttgaagaaattcagaaacagaaaatctgtgggagcttaact
ttgcagcatcacatgctagaacctgttcagcggattccccggtatgagatgctccttaag
gactatctaaggaaattgcctcctgattccctggactggaatgatgctaaaaaatcactt
gaaattatatctacagcagcaagccattctaatagtgcaataaggaaaatggagaaccta
aagaaactcttagagatttatgaaatgttgggagaagaagaagacattgtaaacccttca
aatgaactaataaaagaaggacagatcctcaaactagctgctcggaacacttcagcacaa
gaacgctaccttttcttattcaacaacatgttgctgtactgtgtgcccaaattcagcttg
gtaggctctaaattcacagttcgaaccagggttggcattgatggaatgaaaattgtagag
actcaaaatgaagaatatccacatactttccaggtgtctgggaaagagagaacactggaa
ctgcaggccagttctgcgcaagacaaagaagaatggatcaaggcccttcaagaaaccatc
gatgcttttcatcaaaggcatgaaaccttcagaaatgcaattgcaaaggataatgacatt
cactcagaggtttctactgctgagctagggaaaagagccccaagatggatccgagataat
gaagtgacaatgtgtatgaaatgtaaagaacctttcaatgcactgacacgaaggaggcat
cattgtcgagcatgtggatatgtggtttgttggaaatgctccgactacaaagctcaactt
gaatatgatggtggtaaattgagcaaagtttgtaaagactgttatcaaatcataagtgga
ttcacagacagtgaagaaaagaaaagaaaaggaattttagagattgaatcagcagaagta
tctggaaacagtgtggtgtgcagctttcttcagtatatggagaagtcaaaaccttggcag
aaagcttggtgtgtgatccccaagcaagaccctcttgtgctgtacatgtatggtgccccc
caggacgtcagagcccaggccaccattccacttctgggctatgtggtggatgaaatgcca
aggagcgcagacctgccacacagtttcaaactgacccagtctaagtccgtgcacagcttt
gctgcagacagtgaggaactgaagcagaagtggctgaaagtcatccttttagctgtcaca
ggtgagacaccaggtggtccaaatgagcatccagccaccttggatgatcatcctgaacct
aagaaaaaatcagaatgctga

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Ontology (2)   
   KEGG BRITE (2)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (19)   
   KEGG ORTHOLOGY (1)   
   RefGene (13)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
Protein sequence (37)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (35)   
DNA sequence (72)   
   RefSeq(nuc) (38)   
   GenBank (17)   
   EMBL (17)   
Protein domain (12)   
   Pfam (12)   
All databases (146)   

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