PPFIBP1
entrez
8496
canonical
uniprot
Q86W92
canonical
ensembl
ENSG00000110841
resolver
ensp
ENSP00000228425
resolver
ensp
ENSP00000314724
resolver
ensp
ENSP00000443442
resolver
ensp
ENSP00000445425
resolver
ensp
ENSP00000557777
resolver
ensp
ENSP00000557778
resolver
ensp
ENSP00000557779
resolver
ensp
ENSP00000557780
resolver
ensp
ENSP00000557781
resolver
ensp
ENSP00000557782
resolver
ensp
ENSP00000557783
resolver
ensp
ENSP00000557784
resolver
ensp
ENSP00000557785
resolver
ensp
ENSP00000557786
resolver
ensp
ENSP00000557787
resolver
ensp
ENSP00000613245
resolver
ensp
ENSP00000613246
resolver
ensp
ENSP00000613248
resolver
ensp
ENSP00000613249
resolver
ensp
ENSP00000613250
resolver
ensp
ENSP00000613251
resolver
ensp
ENSP00000613252
resolver
ensp
ENSP00000613264
resolver
ensp
ENSP00000613267
resolver
ensp
ENSP00000707510
resolver
ensp
ENSP00000784950
resolver
ensp
ENSP00000793864
resolver
genesymbol
PPFIBP1
resolver
genesymbol_syn
KIAA1230
resolver
hgnc
HGNC:9249
resolver
uniprot
O75336
resolver
uniprot
Q86X70
resolver
uniprot
Q9NY03
resolver
uniprot
Q9ULJ0
resolver
uniprot_entry
LIPB1_HUMAN
resolver
uniprot_sec
O75336
resolver
uniprot_sec
Q86X70
resolver
uniprot_sec
Q9NY03
resolver
uniprot_sec
Q9ULJ0
resolver
amino_acid_sequence
MMSDASDMLAAALEQMDGIIAGSKALEYSNGIFDCQSPTSPFMGSLRALHLVEDLRGLLEMMETDEKEGLRCQIPDSTAETLVEWLQSQMTNGHLPGNGDVYQERLARLENDKESLVLQVSVLTDQVEAQGEKIRDLEFCLEEHREKVNATEEMLQQELLSRTSLETQKLDLMAEISNLKLKLTAVEKDRLDYEDKFRDTEGLIQEINDLRLKVSEMDSERLQYEKKLKSTKSLMAKLSSMKIKVGQMQYEKQRMEQKWESLKDELASLKEQLEEKESEVKRLQEKLVCKMKGEGVEIVDRDIEVQKMKKAVESLMAANEEKDRKIEDLRQCLNRYKKMQDTVVLAQGKDGEYEELLNSSSISSLLDAQGFSDLEKSPSPTPVMGSPSCDPFNTSVPEEFHTTILQVSIPSLLPATVSMETSEKSKLTPKPETSFEENDGNIILGATVDTQLCDKLLTSSLQKSSSLGNLKKETSDGEKETIQKTSEDRAPAESRPFGTLPPRPPGQDTSMDDNPFGTRKVRSSFGRGFFKIKSNKRTASAPNLAETEKETAEHLDLAGASSRPKDSQRNSPFQIPPPSPDSKKKSRGIMKLFGKLRRSQSTTFNPDDMSEPEFKRGGTRATAGPRLGWSRDLGQSNSDLDMPFAKWTKEQVCNWLMEQGLGSYLNSGKHWIASGQTLLQASQQDLEKELGIKHSLHRKKLQLALQALGSEEETNHGKLDFNWVTRWLDDIGLPQYKTQFDEGRVDGRMLHYMTVDDLLSLKVVSVLHHLSIKRAIQVLRINNFEPNCLRRRPSDENTIAPSEVQKWTNHRVMEWLRSVDLAEYAPNLRGSGVHGGLMVLEPRFNVETMAQLLNIPPNKTLLRRHLATHFNLLIGAEAQHQKRDAMELPDYVLLTATAKVKPKKLAFSNFGNLRKKKQEDGEEYVCPMELGQASGSASKKGFKPGLDMRLYEEDDLDRLEQMEDSEGTVRQIGAFSEGINNLTHMLKEDDMFKDFAARSPSASITDEDSNV
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities (NEDSMBA) [MIM:620024]: An autosomal recessive disorder characterized by global developmental delay, severe to profound intellectual disability, progressive microcephaly, refractory early-onset epilepsy, white matter abnormalities, and periventricular calcifications. {ECO:0000269|PubMed:35830857}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: May regulate the disassembly of focal adhesions. Did not bind receptor-like tyrosine phosphatases type 2A. {ECO:0000269|PubMed:9624153}.
uniprot
proteins
mass_dalton
114024
uniprot
proteins
protein_family
Liprin family
uniprot
proteins
protein_family
Liprin-beta subfamily
uniprot
proteins
pubmed
10574462
uniprot
proteins
pubmed
11836260
uniprot
proteins
pubmed
12168954
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24120883
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
27410476
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
35830857
uniprot
proteins
pubmed
9624153
uniprot
proteins
sequence_length
1011
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cell cortex {ECO:0000269|PubMed:24120883}.
uniprot
proteins