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

Summary

Official Symbol: Serpinh1provided by MGI
Official Full Name: serine (or cysteine) peptidase inhibitor, clade H, member 1provided by MGI
Primary source: MGI:MGI:88283
See related: Ensembl:ENSMUSG00000070436 AllianceGenome:MGI:88283
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: J6; Cbp1; Cbp2; gp46; Hsp47; BERF-1; Serpinh2
Summary: Enables unfolded protein binding activity. Acts upstream of or within several processes, including chondrocyte development involved in endochondral bone morphogenesis; collagen biosynthetic process; and collagen fibril organization. Located in endoplasmic reticulum. Is expressed in several structures, including central nervous system; embryo mesenchyme; eye; metanephros; and skeleton. Used to study osteogenesis imperfecta type 10. Human ortholog(s) of this gene implicated in osteogenesis imperfecta type 10 and preterm premature rupture of the membranes. Orthologous to human SERPINH1 (serpin family H member 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in limb E14.5 (RPKM 483.4), ovary adult (RPKM 448.6) and 19 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 E1; 7 54.07 cM

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (98994583..99002321, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (99345375..99353239, complement)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HSP47 levels determine the degree of body adiposity.
Title: HSP47 levels determine the degree of body adiposity.
CyPA interacts with SERPINH1 to promote extracellular matrix production and inhibit epithelial-mesenchymal transition of trophoblast via enhancing TGF-beta/Smad3 pathway in preeclampsia.
Title: CyPA interacts with SERPINH1 to promote extracellular matrix production and inhibit epithelial-mesenchymal transition of trophoblast via enhancing TGF-β/Smad3 pathway in preeclampsia.
Cardiovascular disease risk factors induce mesenchymal features and senescence in mouse cardiac endothelial cells.
Title: Cardiovascular disease risk factors induce mesenchymal features and senescence in mouse cardiac endothelial cells.
Mechanisms of procollagen and HSP47 sorting during ER-to-Golgi trafficking.
Title: Mechanisms of procollagen and HSP47 sorting during ER-to-Golgi trafficking.
TGFbeta1 induces bone formation from BMP9-activated Bone Mesenchymal Stem Cells, with possible involvement of non-canonical pathways.
Title: TGFβ1 induces bone formation from BMP9-activated Bone Mesenchymal Stem Cells, with possible involvement of non-canonical pathways.
New specific HSP47 functions in collagen subfamily chaperoning.
Title: New specific HSP47 functions in collagen subfamily chaperoning.
Cell-specific ablation of Hsp47 defines the collagen-producing cells in the injured heart
Title: Cell-specific ablation of Hsp47 defines the collagen-producing cells in the injured heart.
HSP47 on the platelet surface interacts with collagen, stabilizes platelet adhesion and increases collagen-mediated signalling to mediate thrombus formation and hemostasis.
Title: The chaperone protein HSP47: a platelet collagen binding protein that contributes to thrombosis and hemostasis.
Increased Hsp47 expression is associated with collagen-related disorders such as fibrosis, characterized by abnormal collagen accumulation, highlighting Hsp47's potential as a clinically relevant therapeutic target.
Title: Roles of the endoplasmic reticulum-resident, collagen-specific molecular chaperone Hsp47 in vertebrate cells and human disease.
These results highlight a cascade of fibrosis in chronic GVHD; macrophage production of transforming growth factor beta mediates fibroblast differentiation to HSP47(+) myofibroblasts that produce collagen. VA-lip HSP47 represent a novel strategy to modulate fibrosis in chronic GVHD by targeting HSP47(+) myofibroblasts without inducing immunosuppression.
Title: Vitamin A-coupled liposomes containing siRNA against HSP47 ameliorate skin fibrosis in chronic graft-versus-host disease.

Submit: New GeneRIF Correction See all GeneRIFs (31)

Variation

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Alleles

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

Endonuclease-mediated (3)
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

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

Process	Evidence Code	Pubs
acts_upstream_of_or_within chondrocyte development involved in endochondral bone morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within collagen biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in collagen fibril organization	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within collagen fibril organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of endopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within protein maturation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info	PubMed
located_in endoplasmic reticulum lumen	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum-Golgi intermediate compartment	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum-Golgi intermediate compartment	ISO Inferred from Sequence Orthology more info
located_in extracellular space	IEA Inferred from Electronic Annotation more info
located_in membrane raft	IEA Inferred from Electronic Annotation more info
located_in membrane raft	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: serpin H1

Names: 47 kDa heat shock protein; beta enolase repressor factor 1; collagen binding protein 1; colligin; 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; serine protease inhibitor J6

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_001111043.2 → NP_001104513.1 serpin H1 precursor

See identical proteins and their annotated locations for NP_001104513.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 7. All ten variants encode the same protein.

Source sequence(s)

AC158748

Consensus CDS

CCDS21480.1

UniProtKB/Swiss-Prot

P19324, Q5U4D0

UniProtKB/TrEMBL

Q3TJK3, Q3TMD2, Q3TWG9, Q8BV87, Q8BVU9

Related

ENSMUSP00000147064.2, ENSMUST00000207849.2

Conserved Domains (1) summary

cd02046
Location:35 → 416

serpinH1_CBP1; serpin family H member 1, collagen-binding protein 1
NM_001111044.2 → NP_001104514.1 serpin H1 precursor

See identical proteins and their annotated locations for NP_001104514.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 7. All ten variants encode the same protein.

Source sequence(s)

AC158748

Consensus CDS

CCDS21480.1

UniProtKB/Swiss-Prot

P19324, Q5U4D0

UniProtKB/TrEMBL

Q3TJK3, Q3TMD2, Q3TWG9, Q8BV87, Q8BVU9

Related

ENSMUSP00000091706.5, ENSMUST00000094154.6

Conserved Domains (1) summary

cd02046
Location:35 → 416

serpinH1_CBP1; serpin family H member 1, collagen-binding protein 1
NM_001285776.2 → NP_001272705.1 serpin H1 precursor

See identical proteins and their annotated locations for NP_001272705.1

Status: VALIDATED

Description

Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 7. All ten variants encode the same protein.

Source sequence(s)

AC158748

Consensus CDS

CCDS21480.1

UniProtKB/Swiss-Prot

P19324, Q5U4D0

UniProtKB/TrEMBL

Q3TJK3, Q3TMD2, Q3TWG9, Q8BV87, Q8BVU9

Related

ENSMUSP00000146969.2, ENSMUST00000208119.2

Conserved Domains (1) summary

cd02046
Location:35 → 416

serpinH1_CBP1; serpin family H member 1, collagen-binding protein 1
NM_001412217.1 → NP_001399146.1 serpin H1 precursor

Status: VALIDATED

Source sequence(s)

AC158748

UniProtKB/Swiss-Prot

P19324, Q5U4D0
NM_001412218.1 → NP_001399147.1 serpin H1 precursor

Status: VALIDATED

Source sequence(s)

AC158748

UniProtKB/Swiss-Prot

P19324, Q5U4D0
NM_001412219.1 → NP_001399148.1 serpin H1 precursor

Status: VALIDATED

Description

Transcript Variant: This variant (7) represents the longest transcript. All ten variants encode the same protein.

Source sequence(s)

AC158748

UniProtKB/Swiss-Prot

P19324, Q5U4D0
NM_001412220.1 → NP_001399149.1 serpin H1 precursor

Status: VALIDATED

Source sequence(s)

AC158748

UniProtKB/Swiss-Prot

P19324, Q5U4D0
NM_001412221.1 → NP_001399150.1 serpin H1 precursor

Status: VALIDATED

Source sequence(s)

AC158748

UniProtKB/Swiss-Prot

P19324, Q5U4D0
NM_001412222.1 → NP_001399151.1 serpin H1 precursor

Status: VALIDATED

Source sequence(s)

AC158748

UniProtKB/Swiss-Prot

P19324, Q5U4D0
NM_009825.3 → NP_033955.2 serpin H1 precursor

See identical proteins and their annotated locations for NP_033955.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 7. All ten variants encode the same protein.

Source sequence(s)

AC158748

Consensus CDS

CCDS21480.1

UniProtKB/Swiss-Prot

P19324, Q5U4D0

UniProtKB/TrEMBL

Q3TJK3, Q3TMD2, Q3TWG9, Q8BV87, Q8BVU9

Related

ENSMUSP00000126390.2, ENSMUST00000169437.9

Conserved Domains (1) summary

cd02046
Location:35 → 416

serpinH1_CBP1; serpin family H member 1, collagen-binding protein 1