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

Gene ID: 12406, updated on 6-Jun-2024

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: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; lower jaw tooth; 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, Apr 2022]
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

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See Serpinh1 in Genome Data Viewer
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_000073.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_19646 Neighboring gene predicted gene, 26705 Neighboring gene microtubule-associated protein 6 Neighboring gene predicted gene, 40449 Neighboring gene STARR-seq mESC enhancer starr_19650 Neighboring gene STARR-positive B cell enhancer ABC_E4952 Neighboring gene STARR-positive B cell enhancer ABC_E1346 Neighboring gene glycerophosphodiester phosphodiesterase domain containing 5 Neighboring gene STARR-seq mESC enhancer starr_19652 Neighboring gene STARR-seq mESC enhancer starr_19653 Neighboring gene STARR-seq mESC enhancer starr_19654 Neighboring gene STARR-seq mESC enhancer starr_19655 Neighboring gene kelch-like 35

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. CyPA interacts with SERPINH1 to promote extracellular matrix production and inhibit epithelial-mesenchymal transition of trophoblast via enhancing TGF-β/Smad3 pathway in preeclampsia. Hu H, et al. Mol Cell Endocrinol, 2022 May 15. PMID 35304192
  2. New specific HSP47 functions in collagen subfamily chaperoning. Köhler A, et al. FASEB J, 2020 Sep. PMID 32716577
  3. Mechanisms of procollagen and HSP47 sorting during ER-to-Golgi trafficking. Omari S, et al. Matrix Biol, 2020 Nov. PMID 32562852, Free PMC Article
  4. Vitamin A-coupled liposomes containing siRNA against HSP47 ameliorate skin fibrosis in chronic graft-versus-host disease. Yamakawa T, et al. Blood, 2018 Mar 29. PMID 29363541
  5. Heat shock protein 47 effects on hepatic stellate cell-associated receptors in hepatic fibrosis of Schistosoma japonicum-infected mice. Zhao Y, et al. Biol Chem, 2017 Nov 27. PMID 28802097

See all (97) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. HSP47 levels determine the degree of body adiposity.
    Title: HSP47 levels determine the degree of body adiposity.
  2. 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.
  3. 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.
  4. Mechanisms of procollagen and HSP47 sorting during ER-to-Golgi trafficking.
    Title: Mechanisms of procollagen and HSP47 sorting during ER-to-Golgi trafficking.
  5. 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.
  6. New specific HSP47 functions in collagen subfamily chaperoning.
    Title: New specific HSP47 functions in collagen subfamily chaperoning.
  7. 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.
  8. 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.
  9. 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.
  10. 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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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 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 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-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 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)

  1. 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

  2. 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

  3. 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

  4. NM_001412217.1 → NP_001399146.1  serpin H1 precursor

    Status: VALIDATED

    Source sequence(s)
    AC158748
    UniProtKB/Swiss-Prot
    P19324, Q5U4D0
    UniProtKB/TrEMBL
    Q3TJK3, Q3TMD2, Q3TWG9, Q8BV87, Q8BVU9

  5. NM_001412218.1 → NP_001399147.1  serpin H1 precursor

    Status: VALIDATED

    Source sequence(s)
    AC158748
    UniProtKB/Swiss-Prot
    P19324, Q5U4D0
    UniProtKB/TrEMBL
    Q3TJK3, Q3TMD2, Q3TWG9, Q8BV87, Q8BVU9

  6. 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
    UniProtKB/TrEMBL
    Q3TJK3, Q3TMD2, Q3TWG9, Q8BV87, Q8BVU9

  7. NM_001412220.1 → NP_001399149.1  serpin H1 precursor

    Status: VALIDATED

    Source sequence(s)
    AC158748
    UniProtKB/Swiss-Prot
    P19324, Q5U4D0
    UniProtKB/TrEMBL
    Q3TJK3, Q3TMD2, Q3TWG9, Q8BV87, Q8BVU9

  8. NM_001412221.1 → NP_001399150.1  serpin H1 precursor

    Status: VALIDATED

    Source sequence(s)
    AC158748
    UniProtKB/Swiss-Prot
    P19324, Q5U4D0
    UniProtKB/TrEMBL
    Q3TJK3, Q3TMD2, Q3TWG9, Q8BV87, Q8BVU9

  9. NM_001412222.1 → NP_001399151.1  serpin H1 precursor

    Status: VALIDATED

    Source sequence(s)
    AC158748
    UniProtKB/Swiss-Prot
    P19324, Q5U4D0
    UniProtKB/TrEMBL
    Q3TJK3, Q3TMD2, Q3TWG9, Q8BV87, Q8BVU9

  10. 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

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000073.7 Reference GRCm39 C57BL/6J

    Range
    98994583..99002321 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P19324.3 GenPept UniProtKB/Swiss-Prot:P19324

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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