| Predicate | Object |
|---|---|
| rdf:type | |
| biopax3:comment |
FUNCTION: Binds specifically to collagen. Could be involved as a chaperone in the biosynthetic pathway of collagen. SUBCELLULAR LOCATION: Endoplasmic reticulum lumen. INDUCTION: By heat shock. POLYMORPHISM: A functional SNP in the promoter of SERPINH1 is associated in African Americans with an increased risk for preterm premature rupture of membranes (PPROM) [MIM:610504]. PPROM is defined as rupture of the membranes before 37 weeks of gestation. SERPINH1 with the -656 T allele displays significantly reduced promoter activity compared to the major -656 C allele. Prematurity is correlated with an increased frequency of the -656 T allele. DISEASE: Defects in SERPINH1 are the cause of osteogenesis imperfecta type 10 (OI10) [MIM:613848]. A connective tissue disorder characterized by bone fragility, low bone mass, bowing of limbs due to multiple fractures, short limb dwarfism and blue sclerae. SIMILARITY: Belongs to the serpin family. WEB RESOURCE: Name=Osteogenesis imperfecta variant database; Note=Serpin H1 (SERPINH1); URL="http://oi.gene.le.ac.uk/home.php?select_db=SERPINH1"; GENE SYNONYMS:SERPINH1 CBP1 CBP2 HSP47 SERPINH2. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.,
SEQUENCE 418 AA; 46441 MW; B7719FCA13A55DEB CRC64;
|
| biopax3:xref |
urn:biopax:RelationshipXref:HGNC_HGNC:1546,
urn:biopax:RelationshipXref:NCBI GENE_871,
urn:biopax:RelationshipXref:REFSEQ_NP_001193943,
urn:biopax:RelationshipXref:REFSEQ_NP_001226,
urn:biopax:UnificationXref:UNIPROT_B3KVJ3,
urn:biopax:UnificationXref:UNIPROT_P29043,
urn:biopax:UnificationXref:UNIPROT_P50454,
urn:biopax:UnificationXref:UNIPROT_Q5XPB4,
urn:biopax:UnificationXref:UNIPROT_Q6NSJ6,
urn:biopax:UnificationXref:UNIPROT_Q8IY96,
urn:biopax:UnificationXref:UNIPROT_Q9NP88
|
| biopax3:displayName |
SERPH_HUMAN
|
| biopax3:name |
47 kDa heat shock protein,
Arsenic-transactivated protein 3,
AsTP3,
Cell proliferation-inducing gene 14 protein,
Collagen-binding protein,
Colligin,
Rheumatoid arthritis-related antigen RA-A47,
SERPINH1
|
| biopax3:organism | |
| biopax3:sequence |
MRSLLLLSAFCLLEAALAAEVKKPAAAAAPGTAEKLSPKAATLAERSAGLAFSLYQAMAKDQAVENILVSPVVVASSLGLVSLGGKATTASQAKAVLSAEQLRDEEVHAGLGELLRSLSNSTARNVTWKLGSRLYGPSSVSFADDFVRSSKQHYNCEHSKINFRDKRSALQSINEWAAQTTDGKLPEVTKDVERTDGALLVNAMFFKPHWDEKFHHKMVDNRGFMVTRSYTVGVMMMHRTGLYNYYDDEKEKLQIVEMPLAHKLSSLIILMPHHVEPLERLEKLLTKEQLKIWMGKMQKKAVAISLPKGVVEVTHDLQKHLAGLGLTEAIDKNKADLSRMSGKKDLYLASVFHATAFELDTDGNPFDQDIYGREELRSPKLFYADHPFIFLVRDTQSGSLLFIGRLVRPKGDKMRDEL
|
| biopax3:standardName |
Serpin H1
|