Homo sapiens (human): 121512
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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)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
RhoGEF
PH
FYVE
SOS1_NGEF_PH
IQ_SEC7_PH
FYVE_2
PH_13
PH_6
RHG20_PH
PH_16
Mcp5_PH
C1_1
zf-RING_UBOX
Motif
Other DBs
NCBI-GeneID:
121512
NCBI-ProteinID:
NP_640334
OMIM:
611104
HGNC:
19125
Ensembl:
ENSG00000139132
UniProt:
Q96M96
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All DBs
Position
12:32399558..32646050
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AA seq
766 aa
AA seq
DB search
MEEIKPASASCVSKEKPSKVSDLISRFEGGSSLSNYSDLKKESAVNLNAPRTPGRHGLTT
TPQQKLLSQHLPQRQGNDTDKTQGAQTCVANGVMAAQNQMECEEEKAATLSSDTSIQASE
PLLDTHIVNGERDETATAPASPTTDSCDGNASDSSYRTPGIGPVLPLEERGAETETKVQE
RENGESPLELEQLDQHHEMKETNEQKLHKIANELLLTERAYVNRLDLLDQVFYCKLLEEA
NRGSFPAEMVNKIFSNISSINAFHSKFLLPELEKRMQEWETTPRIGDILQKLAPFLKMYG
EYVKGFDNAMELVKNMTERIPQFKSVVEEIQKQKICGSLTLQHHMLEPVQRIPRYEMLLK
DYLRKLPPDSLDWNDAKKSLEIISTAASHSNSAIRKMENLKKLLEIYEMLGEEEDIVNPS
NELIKEGQILKLAARNTSAQERYLFLFNNMLLYCVPKFSLVGSKFTVRTRVGIDGMKIVE
TQNEEYPHTFQVSGKERTLELQASSAQDKEEWIKALQETIDAFHQRHETFRNAIAKDNDI
HSEVSTAELGKRAPRWIRDNEVTMCMKCKEPFNALTRRRHHCRACGYVVCWKCSDYKAQL
EYDGGKLSKVCKDCYQIISGFTDSEEKKRKGILEIESAEVSGNSVVCSFLQYMEKSKPWQ
KAWCVIPKQDPLVLYMYGAPQDVRAQATIPLLGYVVDEMPRSADLPHSFKLTQSKSVHSF
AADSEELKQKWLKVILLAVTGETPGGPNEHPATLDDHPEPKKKSEC
NT seq
2301 nt
NT seq
+upstream
nt +downstream
nt
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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