FILIP1
entrez
27145
canonical
uniprot
Q7Z7B0
canonical
ensembl
ENSG00000118407
resolver
ensp
ENSP00000237172
resolver
ensp
ENSP00000376728
resolver
ensp
ENSP00000535930
resolver
ensp
ENSP00000640154
resolver
ensp
ENSP00000715614
resolver
genesymbol
FILIP1
resolver
genesymbol_syn
KIAA1275
resolver
hgnc
HGNC:21015
resolver
uniprot
B2RMU6
resolver
uniprot
Q5VUL6
resolver
uniprot
Q86TC3
resolver
uniprot
Q8N8B9
resolver
uniprot
Q96SK6
resolver
uniprot
Q9NVI8
resolver
uniprot
Q9ULE5
resolver
uniprot_entry
FLIP1_HUMAN
resolver
uniprot_sec
B2RMU6
resolver
uniprot_sec
Q5VUL6
resolver
uniprot_sec
Q86TC3
resolver
uniprot_sec
Q8N8B9
resolver
uniprot_sec
Q96SK6
resolver
uniprot_sec
Q9NVI8
resolver
uniprot_sec
Q9ULE5
resolver
amino_acid_sequence
MRSRNQGGESASDGHISCPKPSIIGNAGEKSLSEDAKKKKKSNRKEDDVMASGTVKRHLKTSGECERKTKKSLELSKEDLIQLLSIMEGELQAREDVIHMLKTEKTKPEVLEAHYGSAEPEKVLRVLHRDAILAQEKSIGEDVYEKPISELDRLEEKQKETYRRMLEQLLLAEKCHRRTVYELENEKHKHTDYMNKSDDFTNLLEQERERLKKLLEQEKAYQARKEKENAKRLNKLRDELVKLKSFALMLVDERQMHIEQLGLQSQKVQDLTQKLREEEEKLKAITSKSKEDRQKLLKLEVDFEHKASRFSQEHEEMNAKLANQESHNRQLRLKLVGLTQRIEELEETNKNLQKAEEELQELRDKIAKGECGNSSLMAEVENLRKRVLEMEGKDEEITKTESQCRELRKKLQEEEHHSKELRLEVEKLQKRMSELEKLEEAFSKSKSECTQLHLNLEKEKNLTKDLLNELEVVKSRVKELECSESRLEKAELSLKDDLTKLKSFTVMLVDERKNMMEKIKQEERKVDGLNKNFKVEQGKVMDVTEKLIEESKKLLKLKSEMEEKVYNLTRERDELIGKLKSEEEKSSELSCSVDLLKKRLDGIEEVEREITRGRSRKGSELTCPEDNKIKELTLEIERLKKRLQQLEVVEGDLMKTEDEYDQLEQKFRTEQDKANFLSQQLEEIKHQIAKNKAIEKGEVVSQEAELRHRFRLEEAKSRDLKAEVQALKEKIHELMNKEDQLSQLQVDYSVLQQRFMEEENKNKNMGQEVLNLTKELELSKRYSRALRPSVNGRRMVDVPVTSTGVQTDAVSGEAAEEETPAVFIRKSFQEENHIMSNLRQVGLKKPVERSSVLDRYPPAANELTMRKSWIPWMRKRENGPSITQEKGPRTNSSPGHPGEVVLSPKQGQPLHIRVTPDHENSTATLEITSPTSEEFFSSTTVIPTLGNQKPRITIIPSPNVMPQKQKSGDTTLGPERAMSPVTITTFSREKTPESGRGAFADRPTSPIQIMTVSTSAAPAEIAVSPESQEMPMGRTILKVTPEKQTVPTPVRKYNSNANIITTEDNKIHIHLGSQFKRSPGTSGEGVSPVITVRPVNVTAEKEVSTGTVLRSPRNHLSSRPGASKVTSTITITPVTTSSARGTQSVSGQDGSSQRPTPTRIPMSKGMKAGKPVVAAPGAGNLTKFEPRAETQSMKIELKKSAASSTTSLGGGKG
uniprot
proteins
disease_involvement
DISEASE: Neuromuscular disorder, congenital, with dysmorphic facies (NMDF) [MIM:620775]: An autosomal recessive neuromuscular disorder characterized by multiple congenital joint contractures, hypotonia, muscle weakness, and facial dysmorphism. Patients may also exhibit motor delay, speech delay, impaired intellectual development, and abnormal brain imaging. {ECO:0000269|PubMed:36943452, ECO:0000269|PubMed:37163662}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: By acting through a filamin-A/F-actin axis, it controls the start of neocortical cell migration from the ventricular zone. May be able to induce the degradation of filamin-A. {ECO:0000250|UniProtKB:Q8K4T4}.
uniprot
proteins
mass_dalton
138109
uniprot
proteins
protein_family
FILIP1 family
uniprot
proteins
pubmed
10574462
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
23087206
uniprot
proteins
pubmed
36943452
uniprot
proteins
pubmed
37163662
uniprot
proteins
sequence_length
1213
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:23087206}.
uniprot
proteins