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

Gene ID: 12406, updated on 24-Sep-2019

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
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
Expression
Broad expression in limb E14.5 (RPKM 483.4), ovary adult (RPKM 448.6) and 19 other tissues See more
Orthologs

Genomic context

See Serpinh1 in Genome Data Viewer
Location:
7; 7 E1
Exon count:
7
Annotation release Status Assembly Chr Location
108 current GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (99345375..99353239, complement)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 7 NC_000073.5 (106493885..106501749, complement)

Chromosome 7 - NC_000073.6Genomic Context describing neighboring genes Neighboring gene predicted gene, 26705 Neighboring gene microtubule-associated protein 6 Neighboring gene predicted gene, 40449 Neighboring gene glycerophosphodiester phosphodiesterase domain containing 5 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)

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
collagen binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
serine-type endopeptidase inhibitor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
unfolded protein binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
chondrocyte development involved in endochondral bone morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
collagen biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
collagen fibril organization IBA
Inferred from Biological aspect of Ancestor
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
PubMed 
protein maturation IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
collagen-containing extracellular matrix HDA PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum ISO
Inferred from Sequence Orthology
more info
PubMed 
endoplasmic reticulum-Golgi intermediate compartment ISO
Inferred from Sequence Orthology
more info
 
extracellular space IEA
Inferred from Electronic Annotation
more info
 
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)

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_001111043.1NP_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 1. Variants 1, 2, 3 and 4 encode the same protein.
    Source sequence(s)
    AV300388, BB686988, BC085143, CA751137
    Consensus CDS
    CCDS21480.1
    UniProtKB/Swiss-Prot
    P19324
    Related
    ENSMUSP00000147064.1, ENSMUST00000207849.1
    Conserved Domains (1) summary
    cd02046
    Location:40405
    hsp47; Heat shock protein 47 (Hsp47), also called colligin, because of its collagen binding ability, is a chaperone specific for procollagen. It has been shown to be essential for collagen biosynthesis, but its exact function is still unclear. Hsp47 is a ...
  2. NM_001111044.1NP_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 1. Variants 1, 2, 3 and 4 encode the same protein.
    Source sequence(s)
    AK077937, AV300388, BB686988, CA751137
    Consensus CDS
    CCDS21480.1
    UniProtKB/Swiss-Prot
    P19324
    Related
    ENSMUSP00000091706.4, ENSMUST00000094154.5
    Conserved Domains (1) summary
    cd02046
    Location:40405
    hsp47; Heat shock protein 47 (Hsp47), also called colligin, because of its collagen binding ability, is a chaperone specific for procollagen. It has been shown to be essential for collagen biosynthesis, but its exact function is still unclear. Hsp47 is a ...
  3. NM_001285776.1NP_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 1. Variants 1, 2, 3 and 4 encode the same protein.
    Source sequence(s)
    AC158748, AK029080
    Consensus CDS
    CCDS21480.1
    UniProtKB/Swiss-Prot
    P19324
    Related
    ENSMUSP00000146969.1, ENSMUST00000208119.1
    Conserved Domains (1) summary
    cd02046
    Location:40405
    hsp47; Heat shock protein 47 (Hsp47), also called colligin, because of its collagen binding ability, is a chaperone specific for procollagen. It has been shown to be essential for collagen biosynthesis, but its exact function is still unclear. Hsp47 is a ...
  4. NM_009825.2NP_033955.2  serpin H1 precursor

    See identical proteins and their annotated locations for NP_033955.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2, 3 and 4 encode the same protein.
    Source sequence(s)
    AK031457, AV300388, BB686988, CA751137
    Consensus CDS
    CCDS21480.1
    UniProtKB/Swiss-Prot
    P19324
    Related
    ENSMUSP00000126390.1, ENSMUST00000169437.8
    Conserved Domains (1) summary
    cd02046
    Location:40405
    hsp47; Heat shock protein 47 (Hsp47), also called colligin, because of its collagen binding ability, is a chaperone specific for procollagen. It has been shown to be essential for collagen biosynthesis, but its exact function is still unclear. Hsp47 is a ...

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 108 details...Open this link in a new tab

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

Reference GRCm38.p6 C57BL/6J

Genomic

  1. NC_000073.6 Reference GRCm38.p6 C57BL/6J

    Range
    99345375..99353239 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006507279.4XP_006507342.1  serpin H1 isoform X1

    See identical proteins and their annotated locations for XP_006507342.1

    UniProtKB/Swiss-Prot
    P19324
    Conserved Domains (1) summary
    cd02046
    Location:40405
    hsp47; Heat shock protein 47 (Hsp47), also called colligin, because of its collagen binding ability, is a chaperone specific for procollagen. It has been shown to be essential for collagen biosynthesis, but its exact function is still unclear. Hsp47 is a ...
  2. XM_006507278.4XP_006507341.1  serpin H1 isoform X1

    See identical proteins and their annotated locations for XP_006507341.1

    UniProtKB/Swiss-Prot
    P19324
    Conserved Domains (1) summary
    cd02046
    Location:40405
    hsp47; Heat shock protein 47 (Hsp47), also called colligin, because of its collagen binding ability, is a chaperone specific for procollagen. It has been shown to be essential for collagen biosynthesis, but its exact function is still unclear. Hsp47 is a ...
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