Homo sapiens Gene: SERPINH1
Summary
InnateDB Gene IDBG-64909.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SERPINH1
Gene Name serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
Synonyms AsTP3; CBP1; CBP2; gp46; HSP47; OI10; PPROM; RA-A47; SERPINH2;
Species Homo sapiens
Ensembl Gene ENSG00000149257
Encoded Proteins
serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a member of the serpin superfamily of serine proteinase inhibitors. The encoded protein is localized to the endoplasmic reticulum and plays a role in collagen biosynthesis as a collagen-specific molecular chaperone. Autoantibodies to the encoded protein have been found in patients with rheumatoid arthritis. Expression of this gene may be a marker for cancer, and nucleotide polymorphisms in this gene may be associated with preterm birth caused by preterm premature rupture of membranes. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, May 2011]
Gene Information
Type Protein coding
Genomic Location Chromosome 11:75562056-75572783
Strand Forward strand
Band q13.5
Transcripts
ENST00000358171 ENSP00000350894
ENST00000533603 ENSP00000434657
ENST00000526242 ENSP00000431384
ENST00000526397 ENSP00000434964
ENST00000529643 ENSP00000435936
ENST00000525492 ENSP00000434482
ENST00000530284 ENSP00000436305
ENST00000532356 ENSP00000436040
ENST00000524558 ENSP00000434412
ENST00000528990 ENSP00000432007
ENST00000533449 ENSP00000431827
ENST00000525611 ENSP00000435452
ENST00000528760 ENSP00000437108
ENST00000525876 ENSP00000433532
ENST00000526638 ENSP00000436306
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 79 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated
Total 79 [view]
Protein-Protein 79 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 3 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004867 serine-type endopeptidase inhibitor activity
GO:0005515 protein binding
GO:0005518 collagen binding
GO:0044822 poly(A) RNA binding
GO:0051082 unfolded protein binding
Biological Process
GO:0003433 chondrocyte development involved in endochondral bone morphogenesis
GO:0006986 response to unfolded protein
GO:0010951 negative regulation of endopeptidase activity
GO:0030162 regulation of proteolysis
GO:0030198 extracellular matrix organization
GO:0030199 collagen fibril organization
GO:0032964 collagen biosynthetic process
GO:0051604 protein maturation
Cellular Component
GO:0005615 extracellular space
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum
GO:0005788 endoplasmic reticulum lumen
GO:0005793 endoplasmic reticulum-Golgi intermediate compartment
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Collagen biosynthesis and modifying enzymes pathway
Extracellular matrix organization pathway
Collagen formation pathway
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.596449 Hs.628639
RefSeq NM_001207014 NM_001235 XM_006718727 XM_006718729
HUGO
OMIM
CCDS CCDS8239
HPRD 02968
IMGT
EMBL
GenPept
RNA Seq Atlas