Serpinh1 serine (or cysteine) peptidase inhibitor, clade H, member 1 [Mus musculus (house mouse)] - Gene

Summary

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Official Symbol: Serpinh1provided by MGI
Official Full Name: serine (or cysteine) peptidase inhibitor, clade H, member 1provided by MGI
Primary source: MGI:88283
See related: Ensembl:ENSMUSG00000070436
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Sciurognathi; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: J6; Cbp1; Cbp2; gp46; Hsp47; BERF-1; Serpinh2; colligin

Genomic context

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Location :: 7 E2; 7

Sequence :: Chromosome: 7; NC_000073.6 (99345375..99353239, complement)

See Serpinh1 in Epigenomics, MapViewer

Chromosome 7 - NC_000073.6 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

The pH sensitivity of murine heat shock protein 47 (HSP47) binding to collagen is affected by mutations in the breach histidine cluster.
Title: The pH sensitivity of murine heat shock protein 47 (HSP47) binding to collagen is affected by mutations in the breach histidine cluster.
These results demonstrate that Hsp47 is indispensable for well-organized cartilage and normal endochondral bone formation.
Title: The molecular chaperone Hsp47 is essential for cartilage and endochondral bone formation.
overexpression of HSP47 in keloid fibroblast cells could induce excessive collagen accumulation by enhancing collagen synthesis, which not only presents a possible mechanism of keloid formation
Title: Effect of heat shock protein 47 on collagen synthesis of keloid in vivo.
alpha-smooth-muscle-actin-positive myofibroblast of bleomycin-induced pulmonary fibrosis cells may synthesize procollagen in the fibrotic process of bleomycin-treated lungs through upregulation of HSP47 mRNA and play an important role in fibrogenesis.
Title: Localization of HSP47 mRNA in murine bleomycin-induced pulmonary fibrosis.
the HSP47-specific siRNA inhibited expression of HSP47 at the level of mRNA and protein, and furthermore, adenovirus-mediated transfer of siRNA against HSP47 inhibited the expression of type I collagen and formation of scar tissue in animal mod
Title: Adenovirus-mediated RNA interference against collagen-specific molecular chaperone 47-KDa heat shock protein suppresses scar formation on mouse wounds.
type IV collagen in dilated endoplasmic reticulum leads to apoptosis in Hsp47-knockout mouse embryos via induction of CHOP
Title: Accumulation of type IV collagen in dilated ER leads to apoptosis in Hsp47-knockout mouse embryos via induction of CHOP.
HSP47 localized in alpha-smooth muscle actin-positive myofibroblasts, F4/80 negative, surfactant protein-A-positive type II pneumocytes, and F4/80-positive macrophages. Cells may play role in fibrotic process through upregulation of HSP47.
Title: Increased expression of collagen-binding heat shock protein 47 in murine bleomycin-induced pneumopathy.
analysis of the client recognition mechanism of HSP47
Title: Specific recognition of the collagen triple helix by chaperone HSP47: minimal structural requirement and spatial molecular orientation.
Hsp47 is required for correct folding and prevention of aggregation of type I collagen in the ER.
Title: Type I collagen in Hsp47-null cells is aggregated in endoplasmic reticulum and deficient in N-propeptide processing and fibrillogenesis.
analysis of recognition of the collagen triple helix by chaperone HSP47
Title: Specific recognition of the collagen triple helix by chaperone HSP47. II. The HSP47-binding structural motif in collagens and related proteins.

Submit: New GeneRIF Correction See all (11)

Alleles

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Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (knock-out) (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description
BioGRID:198530	BioGRID:200409	Lipc		BioGRID	PubMed	Affinity Capture-MS
BioGRID:198530	BioGRID:202313	Pou5f1		BioGRID	PubMed	Affinity Capture-MS

Pathways from BioSystems

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Collagen biosynthesis and modifying enzymes, organism-specific biosystem (from REACTOME)
Collagen biosynthesis and modifying enzymes, organism-specific biosystemcomputationally inferred pathway (not manually curated)
Collagen formation, organism-specific biosystem (from REACTOME)
Collagen formation, organism-specific biosystemcomputationally inferred pathway (not manually curated)
Endochondral Ossification, organism-specific biosystem (from WikiPathways)
Endochondral Ossification, organism-specific biosystem
Endochondral Ossification
Extracellular matrix organization, organism-specific biosystem (from REACTOME)
Extracellular matrix organization, organism-specific biosystemcomputationally inferred pathway (not manually curated)

General gene information

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Homology

Homologs of the Serpinh1 gene: The Serpinh1 gene is conserved in human, Rhesus monkey, dog, cow, rat, chicken, and zebrafish.
Map Viewer (Human, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
protein binding	IPI Inferred from Physical Interaction more info	PubMed
serine-type endopeptidase inhibitor activity	IBA Inferred from Biological aspect of Ancestor more info
unfolded protein binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
collagen biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
collagen fibril organization	IMP Inferred from Mutant Phenotype more info	PubMed
negative regulation of endopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
protein maturation	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of proteolysis	IBA Inferred from Biological aspect of Ancestor more info
response to stress	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
endoplasmic reticulum	IDA Inferred from Direct Assay more info
endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
endoplasmic reticulum-Golgi intermediate compartment	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: serpin H1

Names: serpin H1; collagen-binding protein; 47 kDa heat shock protein; collagen binding protein 1; serine protease inhibitor J6; beta enolase repressor factor 1; serine (or cysteine) proteinase inhibitor, clade H, member 1; serine (or cysteine) proteinase inhibitor, clade H, member 2; serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 1; serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001111043.1 → NP_001104513.1 serpin H1 precursor

Status: VALIDATED

Source sequence(s)

AV300388, BB686988, BC085143, CA751137

Consensus CDS

CCDS21480.1

UniProtKB/Swiss-Prot

P19324

Related

ENSMUSP00000091706, ENSMUST00000094154

Conserved Domains (1) summary

cl00137
Location:40 – 405
Blast Score: 1662

SERPIN; SERine Proteinase INhibitors (serpins) exhibit conformational polymorphism shifting from native to cleaved, latent, delta, or polymorphic forms. Many serpins, such as antitrypsin and antichymotrypsin, function as serine protease inhibitors which regulate ...
NM_001111044.1 → NP_001104514.1 serpin H1 precursor

Status: VALIDATED

Source sequence(s)

AK077937, AV300388, BB686988, CA751137

Consensus CDS

CCDS21480.1

UniProtKB/Swiss-Prot

P19324

Conserved Domains (1) summary

cl00137
Location:40 – 405
Blast Score: 1662

SERPIN; SERine Proteinase INhibitors (serpins) exhibit conformational polymorphism shifting from native to cleaved, latent, delta, or polymorphic forms. Many serpins, such as antitrypsin and antichymotrypsin, function as serine protease inhibitors which regulate ...
NM_009825.2 → NP_033955.2 serpin H1 precursor

Status: VALIDATED

Source sequence(s)

AK031457, AV300388, BB686988, CA751137

Consensus CDS

CCDS21480.1

UniProtKB/Swiss-Prot

P19324

Related

ENSMUSP00000126390, ENSMUST00000169437

Conserved Domains (1) summary

cl00137
Location:40 – 405
Blast Score: 1662

SERPIN; SERine Proteinase INhibitors (serpins) exhibit conformational polymorphism shifting from native to cleaved, latent, delta, or polymorphic forms. Many serpins, such as antitrypsin and antichymotrypsin, function as serine protease inhibitors which regulate ...

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 103

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm38.p1 C57BL/6J

Genomic

NC_000073.6 Reference GRCm38.p1 C57BL/6J

Range

99345375..99353239, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate Mm_Celera

Genomic

AC_000029.1 Alternate Mm_Celera

Range

99670192..99678104, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein	Strain
Heading	Accession and Version	Protein	Strain
genomic	AAHY01064732.1	None
genomic	AAHY01064733.1 (7243..13174)	None
genomic	AC158748.9 (111663..119383)	None
genomic	CH466531.1	EDL16377.1	mixed
		EDL16378.1	mixed
genomic	D12907.2	BAA02298.1	BALB/c
mRNA	AK029080.1	BAC26283.1	C57BL/6J
mRNA	AK031457.1	BAC27413.1	C57BL/6J
mRNA	AK076474.1	BAC36360.1	C57BL/6J
mRNA	AK077660.1	BAC36935.1	C57BL/6J
mRNA	AK077937.1	BAC37075.1	C57BL/6J
mRNA	AK077992.1	None	C57BL/6J
mRNA	AK079460.1	BAC37652.1	C57BL/6J
mRNA	AK086519.1	BAC39683.1	C57BL/6J
mRNA	AK086523.1	BAC39684.1	C57BL/6J
mRNA	AK089993.1	BAC41032.1
mRNA	AK090103.1	BAC41093.1
mRNA	AK159697.1	BAE35297.1	C57BL/6J
mRNA	AK159998.1	BAE35546.1	C57BL/6J
mRNA	AK166000.1	BAE38510.1
mRNA	AK167403.1	BAE39492.1	C57BL/6J
mRNA	AK168442.1	BAE40347.1	C57BL/6J
mRNA	AK168870.1	BAE40689.1	C57BL/6J
mRNA	AK169422.1	None	C57BL/6J
mRNA	AK205936.1	None
mRNA	AK206725.1	None
mRNA	AK209349.1	None
mRNA	AK211972.1	None
mRNA	AK219072.1	None
mRNA	AV300388.1	None	C57BL/6J
mRNA	BB686988.1	None	C57BL/6J
mRNA	BC085143.1	AAH85143.1	C57BL/6
mRNA	CA751137.1	None	C57BL/6
mRNA	J05609.1	AAA03200.1
mRNA	X60676.1	CAA43091.1	BALB/c