InnateDB: Systems Biology of the Innate Immune Response

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

IDBP-64911

serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)

IDBP-591115

serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)

IDBP-593789

serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)

IDBP-591481

serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)

IDBP-588748

serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)

IDBP-598161

serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)

IDBP-591070

serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)

IDBP-586081

serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)

IDBP-597613

serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)

IDBP-583316

serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)

IDBP-600872

serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)

IDBP-587009

serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)

IDBP-600138

serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)

IDBP-585876

serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)

IDBP-595732

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

ENSMUSG00000070436

View Gene Order

ENSBTAG00000001027

Not yet available

Pathways

NETPATH

REACTOME

REACT_121139

Collagen biosynthesis and modifying enzymes pathway

REACT_118779

Extracellular matrix organization pathway

REACT_120729

Collagen formation pathway

KEGG

INOH

PID NCI

Cross-References

SwissProt

P50454

TrEMBL

A0A024R5K8 B4DN87 E9PIG2 E9PJH8 E9PK86 E9PKH2 E9PMI5 E9PNX1 E9PR70 E9PRS3 Q9NPA9

UniProt Splice Variant

Entrez Gene

871

UniGene

Hs.596449 Hs.628639

RefSeq

NM_001207014 XM_006718729 NM_001235 XM_006718727

HUGO

HGNC:1546

OMIM

600943

CCDS

CCDS8239

HPRD

02968

IMGT

EMBL

AB044778 AB044779 AB044780 AB044781 AK122936 AK297811 AP001922 AP002815 AY264853 AY744367 BC014623 BC036298 BC070087 BT007094 CH471076 D83174 X61598

GenPept

AAH14623 AAH36298 AAH70087 AAP35758 AAP93914 AAU95378 BAA11829 BAA96788 BAA96789 BAA96790 BAA96791 BAG53805 BAG60149 CAA43795 EAW74974 EAW74975 EAW74977 EAW74979

RNA Seq Atlas

871