FAM111B
entrez
374393
canonical
uniprot
Q6SJ93
canonical
ensembl
ENSG00000189057
resolver
ensp
ENSP00000341565
resolver
ensp
ENSP00000393855
resolver
ensp
ENSP00000432875
resolver
genesymbol
FAM111B
resolver
genesymbol_syn
CANP
resolver
hgnc
HGNC:24200
resolver
uniprot
B4E2G2
resolver
uniprot
Q6P661
resolver
uniprot_entry
F111B_HUMAN
resolver
uniprot_sec
B4E2G2
resolver
uniprot_sec
Q6P661
resolver
amino_acid_sequence
MNSMKTEENKSFSAMEDDQRTRPEVSKDTVMKQTHADTPVDHCLSGIRKCSSTFKLKSEVNKHETALEMQNPNLNNKECCFTFTLNGNSRKLDRSVFTAYGKPSESIYSALSANDYFSERIKNQFNKNIIVYEEKTIDGHINLGMPLKCLPSDSHFKITFGQRKSSKEDGHILRQCENPNMECILFHVVAIGRTRKKIVKINELHEKGSKLCIYALKGETIEGALCKDGRFRSDIGEFEWKLKEGHKKIYGKQSMVDEVSGKVLEMDISKKKALQQKDIHKKIKQNESATDEINHQSLIQSKKKVHKPKKDGETKDVEHSREQILPPQDLSHYIKDKTRQTIPRIRNYYFCSLPRKYRQINSQVRRRPHLGRRYAINLDVQKEAINLLKNYQTLNEAIMHQYPNFKEEAQWVRKYFREEQKRMNLSPAKQFNIYKKDFGKMTANSVSVATCEQLTYYSKSVGFMQWDNNGNTGNATCFVFNGGYIFTCRHVVHLMVGKNTHPSLWPDIISKCAKVTFTYTEFCPTPDNWFSIEPWLKVSNENLDYAILKLKENGNAFPPGLWRQISPQPSTGLIYLIGHPEGQIKKIDGCTVIPLNERLKKYPNDCQDGLVDLYDTTSNVYCMFTQRSFLSEVWNTHTLSYDTCFSDGSSGSPVFNASGKLVALHTFGLFYQRGFNVHALIEFGYSMDSILCDIKKTNESLYKSLNDEKLETYDEEKGKQESSLQDHQIEPMEC
uniprot
proteins
disease_involvement
DISEASE: Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) [MIM:615704]: An autosomal dominant form of hereditary poikiloderma, a genodermatosis characterized by mottled pigmentation, telangiectasia, and epidermal atrophy. POIKTMP features include tendon contracture, myopathy, and progressive pulmonary fibrosis. It manifests from early childhood with telangiectasia and pigmentary anomalies especially on the face and sun-exposed areas, tendon contractures that particularly involve the ankles and feet causing gait disturbance, and development of pulmonary fibrosis during the second decade of life resulting in progressive dyspnea and restrictive impairment of lung function. {ECO:0000269|PubMed:24268661}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.4.21.-
uniprot
proteins
function
FUNCTION: Serine protease. {ECO:0000250|UniProtKB:Q96PZ2}.
uniprot
proteins
mass_dalton
84674
uniprot
proteins
protein_family
FAM111 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
24268661
uniprot
proteins
pubmed
28112733
uniprot
proteins
sequence_length
734
uniprot
proteins