• Gene id: 871

Gene Summary

• Gene Symbol: SERPINH1   Gene   UCSC   Ensembl
• Aliases: AsTP3, CBP1, CBP2, HSP47, OI10, PIG14, PPROM, RA-A47, SERPINH2, gp46
• Gene name: serpin family H member 1
• Alternate names: serpin H1, 47 kDa heat shock protein, arsenic-transactivated protein 3, cell proliferation-inducing gene 14 protein, collagen binding protein 1, colligin-1, colligin-2, rheumatoid arthritis antigen A-47, rheumatoid arthritis-related antigen RA-A47, serine (or cyst,
• Gene location: 11q13.5 (75562252: 75572810)     Exons: 8     NC_000011.10
• Gene summary(Entrez): 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
• OMIM: 111700

SNPs

rs17840762

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.125241708G>A
NC_000009.11   g.128003987G>A
NG_027761.1   g.4680C>T
NG_063123.1   g.439G>A
XR_001746927.1   n.46G>A|SEQ=[G/A]|GENE=HSPA5
LOC107987127   107987127

rs17840761

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.125241700G>A
NC_000009.11   g.128003979G>A
NG_027761.1   g.4688C>T
NG_063123.1   g.431G>A
XR_001746927.1   n.38G>A|SEQ=[G/A]|GENE=HSPA5
LOC107987127   107987127

rs3216733

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000009.12   g.125241516_125241517del
NC_000009.12   g.125241517del
NC_000009.12   g.125241517dup
NC_000009.12   g.125241516_125241517dup
NC_000009.11   g.128003795_128003796del
NC_000009.11   g.128003796del
NC_000009.11   g.128003796dup
NC_000009.11   g.128003795

Protein Summary

• Protein general information: P50454  
  • Name: Serpin H1 (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)
  • Length: 418  
  • Mass: 46441
• Sequence:

  MRSLLLLSAFCLLEAALAAEVKKPAAAAAPGTAEKLSPKAATLAERSAGLAFSLYQAMAKDQAVENILVSPVVVA
  SSLGLVSLGGKATTASQAKAVLSAEQLRDEEVHAGLGELLRSLSNSTARNVTWKLGSRLYGPSSVSFADDFVRSS
  KQHYNCEHSKINFRDKRSALQSINEWAAQTTDGKLPEVTKDVERTDGALLVNAMFFKPHWDEKFHHKMVDNRGFM
  VTRSYTVGVMMMHRTGLYNYYDDEKEKLQIVEMPLAHKLSSLIILMPHHVEPLERLEKLLTKEQLKIWMGKMQKK
  AVAISLPKGVVEVTHDLQKHLAGLGLTEAIDKNKADLSRMSGKKDLYLASVFHATAFELDTDGNPFDQDIYGREE
  LRSPKLFYADHPFIFLVRDTQSGSLLFIGRLVRPKGDKMRDEL

• Structural information:
  • Interpro: IPR023795  IPR023796  IPR000215  IPR033830  IPR036186   IPR042178  IPR042185  IPR033547  
  • Prosite: PS00014 PS00284
  • CDD: cd02046
  • STRING: ENSP00000434412
• Other Databases: GeneCards:  SERPINH1  Malacards:  SERPINH1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0004867	serine-type endopeptidase inhibitor activity	IBA	molecular function
GO:0010951	negative regulation of endopeptidase activity	IBA	biological process
GO:0030199	collagen fibril organization	IBA	biological process
GO:0005615	extracellular space	IEA	cellular component
GO:0004867	serine-type endopeptidase inhibitor activity	IEA	molecular function
GO:0005518	collagen binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0004867	serine-type endopeptidase inhibitor activity	TAS	molecular function
GO:0005518	collagen binding	NAS	molecular function
GO:0005783	endoplasmic reticulum	TAS	cellular component
GO:0005783	endoplasmic reticulum	TAS	cellular component
GO:0006986	response to unfolded protein	TAS	biological process
GO:0006986	response to unfolded protein	TAS	biological process
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0051604	protein maturation	IEA	biological process
GO:0051082	unfolded protein binding	IEA	molecular function
GO:0032964	collagen biosynthetic process	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0030199	collagen fibril organization	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0003433	chondrocyte development involved in endochondral bone morphogenesis	IEA	biological process
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	colocalizes with
GO:0005788	endoplasmic reticulum lumen	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005793	endoplasmic reticulum-Golgi intermediate compartment	IDA	cellular component
GO:0045121	membrane raft	IDA	cellular component
GO:0005783	endoplasmic reticulum	NAS	cellular component
GO:0005518	collagen binding	NAS	molecular function
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Osteogenesis imperfecta	KEGG:H00506
Osteogenesis imperfecta	KEGG:H00506
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray