FRMD5
entrez
84978
canonical
uniprot
Q7Z6J6
canonical
ensembl
ENSG00000171877
resolver
ensp
ENSP00000384142
resolver
ensp
ENSP00000399684
resolver
ensp
ENSP00000403067
resolver
ensp
ENSP00000452968
resolver
ensp
ENSP00000479575
resolver
enst
ENST00000402883
resolver
enst
ENST00000484674
resolver
enst
ENST00000618556
resolver
genesymbol
FRMD5
resolver
hgnc
HGNC:28214
resolver
uniprot
A0A087WVP2
resolver
uniprot
A8K1U8
resolver
uniprot
B3KVN9
resolver
uniprot
B5MC67
resolver
uniprot
H0YKW6
resolver
uniprot
Q8NBG4
resolver
uniprot_entry
A0A087WVP2_HUMAN
resolver
uniprot_entry
A8K1U8_HUMAN
resolver
uniprot_entry
B3KVN9_HUMAN
resolver
uniprot_entry
B5MC67_HUMAN
resolver
uniprot_entry
FRMD5_HUMAN
resolver
uniprot_entry
H0YKW6_HUMAN
resolver
uniprot_sec
Q8NBG4
resolver
amino_acid_sequence
MLSRLMSGSSRSLEREYSCTVRLLDDSEYTCTIQRDAKGQYLFDLLCHHLNLLEKDYFGIRFVDPDKQRHWLEFTKSVVKQLRSQPPFTMCFRVKFYPADPAALKEEITRYLVFLQIKRDLYHGRLLCKTSDAALLAAYILQAEIGDYDSGKHPEGYSSKFQFFPKHSEKLERKIAEIHKTELSGQTPATSELNFLRKAQTLETYGVDPHPCKDVSGNAAFLAFTPFGFVVLQGNKRVHFIKWNEVTKLKFEGKTFYLYVSQKEEKKIILTYFAPTPEACKHLWKCGIENQAFYKLEKSSQVRTVSSSNLFFKGSRFRYSGRVAKEVMESSAKIKREPPEIHRAGMVPSRSCPSITHGPRLSSVPRTRRRAVHISIMEGLESLRDSAHSTPVRSTSHGDTFLPHVRSSRTDSNERVAVIADEAYSPADSVLPTPVAEHSLELMLLSRQINGATCSIEEEKESEASTPTATEVEALGGELRALCQGHSGPEEEQVNKFVLSVLRLLLVTMGLLFVLLLLLIILTESDLDIAFFRDIRQTPEFEQFHYQYFCPLRRWFACKIRSVVSLLIDT
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with eye movement abnormalities and ataxia (NEDEMA) [MIM:620094]: An autosomal dominant disorder apparent from infancy and characterized by global developmental delay, intellectual disability, speech difficulties, ataxia, seizures, and abnormalities of eye movement. {ECO:0000269|PubMed:36206744}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: May be involved in regulation of cell migration (PubMed:22846708, PubMed:25448675). May regulate cell-matrix interactions via its interaction with ITGB5 and modifying ITGB5 cytoplasmic tail interactions such as with FERMT2 and TLN1. May regulate ROCK1 kinase activity possibly involved in regulation of actin stress fiber formation (PubMed:25448675).
uniprot
proteins
mass_dalton
65065
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
22846708
uniprot
proteins
pubmed
25448675
uniprot
proteins
pubmed
36206744
uniprot
proteins
sequence_length
570
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}. Cell junction, adherens junction {ECO:0000269|PubMed:22846708}.
uniprot
proteins
transmembrane_region
TRANSMEM 504..524; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins