SERPINH1
entrez
871
canonical
uniprot
P50454
canonical
ensembl
ENSG00000149257
resolver
ensp
ENSP00000350894
resolver
ensp
ENSP00000431827
resolver
ensp
ENSP00000434412
resolver
ensp
ENSP00000434657
resolver
ensp
ENSP00000542869
resolver
ensp
ENSP00000542870
resolver
ensp
ENSP00000542871
resolver
ensp
ENSP00000542872
resolver
ensp
ENSP00000592112
resolver
ensp
ENSP00000592113
resolver
ensp
ENSP00000592114
resolver
ensp
ENSP00000592115
resolver
ensp
ENSP00000592116
resolver
ensp
ENSP00000592117
resolver
ensp
ENSP00000592118
resolver
ensp
ENSP00000592119
resolver
ensp
ENSP00000592120
resolver
ensp
ENSP00000617527
resolver
ensp
ENSP00000617528
resolver
ensp
ENSP00000617529
resolver
enst
ENST00000358171
resolver
enst
ENST00000524558
resolver
enst
ENST00000533603
resolver
enst
ENST00000872810
resolver
enst
ENST00000872811
resolver
enst
ENST00000872812
resolver
enst
ENST00000872813
resolver
enst
ENST00000922053
resolver
enst
ENST00000922054
resolver
enst
ENST00000922055
resolver
enst
ENST00000922056
resolver
enst
ENST00000922057
resolver
enst
ENST00000922058
resolver
enst
ENST00000922059
resolver
enst
ENST00000922060
resolver
enst
ENST00000922061
resolver
enst
ENST00000947468
resolver
enst
ENST00000947469
resolver
enst
ENST00000947470
resolver
genesymbol
SERPINH1
resolver
genesymbol_syn
CBP1
resolver
genesymbol_syn
CBP2
resolver
genesymbol_syn
HSP47
resolver
genesymbol_syn
SERPINH2
resolver
hgnc
HGNC:1546
resolver
uniprot
A8K259
resolver
uniprot
B3KVJ3
resolver
uniprot
P29043
resolver
uniprot
Q5XPB4
resolver
uniprot
Q6NSJ6
resolver
uniprot
Q8IY96
resolver
uniprot
Q9NP88
resolver
uniprot_entry
A8K259_HUMAN
resolver
uniprot_entry
SERPH_HUMAN
resolver
uniprot_sec
B3KVJ3
resolver
uniprot_sec
P29043
resolver
uniprot_sec
Q5XPB4
resolver
uniprot_sec
Q6NSJ6
resolver
uniprot_sec
Q8IY96
resolver
uniprot_sec
Q9NP88
resolver
amino_acid_sequence
MRSLLLLSAFCLLEAALAAEVKKPAAAAAPGTAEKLSPKAATLAERSAGLAFSLYQAMAKDQAVENILVSPVVVASSLGLVSLGGKATTASQAKAVLSAEQLRDEEVHAGLGELLRSLSNSTARNVTWKLGSRLYGPSSVSFADDFVRSSKQHYNCEHSKINFRDKRSALQSINEWAAQTTDGKLPEVTKDVERTDGALLVNAMFFKPHWDEKFHHKMVDNRGFMVTRSYTVGVMMMHRTGLYNYYDDEKEKLQIVEMPLAHKLSSLIILMPHHVEPLERLEKLLTKEQLKIWMGKMQKKAVAISLPKGVVEVTHDLQKHLAGLGLTEAIDKNKADLSRMSGKKDLYLASVFHATAFELDTDGNPFDQDIYGREELRSPKLFYADHPFIFLVRDTQSGSLLFIGRLVRPKGDKMRDEL
uniprot
proteins
disease_involvement
DISEASE: Osteogenesis imperfecta 10 (OI10) [MIM:613848]: A form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI10 is an autosomal recessive form characterized by multiple bone deformities and fractures, generalized osteopenia, dentinogenesis imperfecta, and blue sclerae. {ECO:0000269|PubMed:20188343}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Binds specifically to collagen. Could be involved as a chaperone in the biosynthetic pathway of collagen.
uniprot
proteins
mass_dalton
46441
uniprot
proteins
protein_family
Serpin family
uniprot
proteins
pubmed
11052465
uniprot
proteins
pubmed
1309665
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16938879
uniprot
proteins
pubmed
20188343
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22905912
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
7656593
uniprot
proteins
sequence_length
418
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum lumen.
uniprot
proteins