FGD4
entrez
121512
canonical
uniprot
Q96M96
canonical
ensembl
ENSG00000139132
resolver
ensp
ENSP00000431323
resolver
ensp
ENSP00000433666
resolver
ensp
ENSP00000434356
resolver
ensp
ENSP00000446695
resolver
ensp
ENSP00000449273
resolver
ensp
ENSP00000462623
resolver
ensp
ENSP00000507616
resolver
ensp
ENSP00000507831
resolver
enst
ENST00000472289
resolver
enst
ENST00000525053
resolver
enst
ENST00000531134
resolver
enst
ENST00000534526
resolver
enst
ENST00000546442
resolver
enst
ENST00000682739
resolver
genesymbol
FGD4
resolver
genesymbol_syn
FRABP
resolver
genesymbol_syn
ZFYVE6
resolver
hgnc
HGNC:19125
resolver
uniprot
B7Z493
resolver
uniprot
B7Z8F9
resolver
uniprot
E9PJX4
resolver
uniprot
E9PQT1
resolver
uniprot
F6XBK0
resolver
uniprot
F8VWL3
resolver
uniprot
F8W1R0
resolver
uniprot
Q49A55
resolver
uniprot
Q6ULS2
resolver
uniprot
Q8TCP6
resolver
uniprot_entry
B7Z493_HUMAN
resolver
uniprot_entry
B7Z8F9_HUMAN
resolver
uniprot_entry
E9PJX4_HUMAN
resolver
uniprot_entry
E9PQT1_HUMAN
resolver
uniprot_entry
F6XBK0_HUMAN
resolver
uniprot_entry
F8VWL3_HUMAN
resolver
uniprot_entry
F8W1R0_HUMAN
resolver
uniprot_entry
FGD4_HUMAN
resolver
uniprot_entry
Q49A55_HUMAN
resolver
uniprot_sec
Q6ULS2
resolver
uniprot_sec
Q8TCP6
resolver
amino_acid_sequence
MEEIKPASASCVSKEKPSKVSDLISRFEGGSSLSNYSDLKKESAVNLNAPRTPGRHGLTTTPQQKLLSQHLPQRQGNDTDKTQGAQTCVANGVMAAQNQMECEEEKAATLSSDTSIQASEPLLDTHIVNGERDETATAPASPTTDSCDGNASDSSYRTPGIGPVLPLEERGAETETKVQERENGESPLELEQLDQHHEMKETNEQKLHKIANELLLTERAYVNRLDLLDQVFYCKLLEEANRGSFPAEMVNKIFSNISSINAFHSKFLLPELEKRMQEWETTPRIGDILQKLAPFLKMYGEYVKGFDNAMELVKNMTERIPQFKSVVEEIQKQKICGSLTLQHHMLEPVQRIPRYEMLLKDYLRKLPPDSLDWNDAKKSLEIISTAASHSNSAIRKMENLKKLLEIYEMLGEEEDIVNPSNELIKEGQILKLAARNTSAQERYLFLFNNMLLYCVPKFSLVGSKFTVRTRVGIDGMKIVETQNEEYPHTFQVSGKERTLELQASSAQDKEEWIKALQETIDAFHQRHETFRNAIAKDNDIHSEVSTAELGKRAPRWIRDNEVTMCMKCKEPFNALTRRRHHCRACGYVVCWKCSDYKAQLEYDGGKLSKVCKDCYQIISGFTDSEEKKRKGILEIESAEVSGNSVVCSFLQYMEKSKPWQKAWCVIPKQDPLVLYMYGAPQDVRAQATIPLLGYVVDEMPRSADLPHSFKLTQSKSVHSFAADSEELKQKWLKVILLAVTGETPGGPNEHPATLDDHPEPKKKSEC
uniprot
proteins
disease_involvement
DISEASE: Charcot-Marie-Tooth disease, demyelinating, type 4H (CMT4H) [MIM:609311]: A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4. {ECO:0000269|PubMed:17564959, ECO:0000269|PubMed:17564972}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Activates CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. Plays a role in regulating the actin cytoskeleton and cell shape. Activates MAPK8 (By similarity). {ECO:0000250, ECO:0000269|PubMed:15133042}.
uniprot
proteins
mass_dalton
86626
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15133042
uniprot
proteins
pubmed
17564959
uniprot
proteins
pubmed
17564972
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
24275569
uniprot
proteins
sequence_length
766
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250}. Cell projection, filopodium {ECO:0000250}. Note=Concentrated in filopodia and poorly detected at lamellipodia. Binds along the sides of actin fibers (By similarity). {ECO:0000250}.
uniprot
proteins