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

    Gene ID: 12406, updated on 3-Dec-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 
    • Targeted (2)  1 citation

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 
    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 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

    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)

    NEW Try the new Transcript table

    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_001111043.2NP_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:35416
      serpinH1_CBP1; serpin family H member 1, collagen-binding protein 1
    2. NM_001111044.2NP_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:35416
      serpinH1_CBP1; serpin family H member 1, collagen-binding protein 1
    3. NM_001285776.2NP_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:35416
      serpinH1_CBP1; serpin family H member 1, collagen-binding protein 1
    4. NM_001412217.1NP_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_001412218.1NP_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_001412219.1NP_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_001412220.1NP_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_001412221.1NP_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_001412222.1NP_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_009825.3NP_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:35416
      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)