BFSP1
entrez
631
canonical
uniprot
Q12934
canonical
ensembl
ENSG00000125864
resolver
ensp
ENSP00000367099
resolver
ensp
ENSP00000367104
resolver
ensp
ENSP00000442522
resolver
ensp
ENSP00000599731
resolver
genesymbol
BFSP1
resolver
hgnc
HGNC:1040
resolver
uniprot
B7Z999
resolver
uniprot
B7ZAD2
resolver
uniprot
F5H0G1
resolver
uniprot
O43595
resolver
uniprot
O76034
resolver
uniprot
O95676
resolver
uniprot
Q8IVZ6
resolver
uniprot
Q9HBX4
resolver
uniprot_entry
B7Z999_HUMAN
resolver
uniprot_entry
B7ZAD2_HUMAN
resolver
uniprot_entry
BFSP1_HUMAN
resolver
uniprot_sec
F5H0G1
resolver
uniprot_sec
O43595
resolver
uniprot_sec
O76034
resolver
uniprot_sec
O95676
resolver
uniprot_sec
Q8IVZ6
resolver
uniprot_sec
Q9HBX4
resolver
amino_acid_sequence
MYRRSYVFQTRKEQYEHADEASRAAEPERPADEGWAGATSLAALQGLGERVAAHVQRARALEQRHAGLRRQLDAFQRLGELAGPEDALARQVESNRQRVRDLEAERARLERQGTEAQRALDEFRSKYENECECQLLLKEMLERLNKEADEALLHNLRLQLEAQFLQDDISAAKDRHKKNLLEVQTYISILQQIIHTTPPASIVTSGMREEKLLTEREVAALRSQLEEGREVLSHLQAQRVELQAQTTTLEQAIKSAHECYDDEIQLYNEQIETLRKEIEETERVLEKSSYDCRQLAVAQQTLKNELDRYHRIIEIEGNRLTSAFIETPIPLFTQSHGVSLSTGSGGKDLTRALQDITAAKPRQKALPKNVPRRKEIITKDKTNGALEDAPLKGLEDTKLVQVVLKEESESKFESESKEVSPLTQEGAPEDVPDGGQISKGFGKLYRKVKEKVRSPKEPETPTELYTKERHVLVTGDANYVDPRFYVSSITAKGGVAVSVAEDSVLYDGQVEPSPESPKPPLENGQVGLQEKEDGQPIDQQPIDKEIEPDGAELEGPEEKREGEERDEESRRPCAMVTPGAEEPSIPEPPKPAADQDGAEVLGTRSRSLPEKGPPKALAYKTVEVVESIEKISTESIQTYEETAVIVETMIGKTKSDKKKSGEKSS
uniprot
proteins
disease_involvement
DISEASE: Cataract 33, multiple types (CTRCT33) [MIM:611391]: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT33 has juvenile-onset and the opacities are restricted to the cortex of the lens, not involving the nucleus. {ECO:0000269|PubMed:17225135, ECO:0000269|PubMed:24379646, ECO:0000269|PubMed:28450710}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Required for the correct formation of lens intermediate filaments as part of a complex composed of BFSP1, BFSP2 and CRYAA (PubMed:28935373). Involved in altering the calcium regulation of MIP water permeability (PubMed:30790544). {ECO:0000269|PubMed:28935373, ECO:0000269|PubMed:30790544}.
uniprot
proteins
mass_dalton
74544
uniprot
proteins
mutagenesis
MUTAGEN 433; /note="D->A: Abolishes cleavage by CASP2."; /evidence="ECO:0000269|PubMed:30790544"; MUTAGEN 434; /note="G->A: No effect on cleavage."; /evidence="ECO:0000269|PubMed:30790544
uniprot
proteins
post_translational_modification
PTM: Proteolytically cleaved during lens cell fiber differentiation with increased fragmentation as fiber cell age increases. {ECO:0000250|UniProtKB:Q06002}.; PTM: [Filensin C-terminal fragment]: Myristoylated at Gly-434 following proteolytic cleavage at Asp-433. {ECO:0000269|PubMed:30790544}.; PTM: [Filensin N-terminal fragment]: Acetylated at Ala-42 following proteolytic cleavage at Leu-41. {ECO:0000250|UniProtKB:Q06002}.
uniprot
proteins
protein_family
Intermediate filament family
uniprot
proteins
pubmed
10909854
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17225135
uniprot
proteins
pubmed
24379646
uniprot
proteins
pubmed
28450710
uniprot
proteins
pubmed
28935373
uniprot
proteins
pubmed
30790544
uniprot
proteins
pubmed
7720401
uniprot
proteins
pubmed
9628810
uniprot
proteins
pubmed
9787085
uniprot
proteins
sequence_length
665
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q06002}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q06002}; Cytoplasmic side {ECO:0000250|UniProtKB:Q06002}. Cytoplasm {ECO:0000250|UniProtKB:Q02435}. Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:Q06002}. Cytoplasm, cell cortex {ECO:0000250|UniProtKB:Q06002}.
uniprot
proteins