U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

SERPINH1 serpin family H member 1 [ Canis lupus familiaris (dog) ]

Gene ID: 485187, updated on 5-Sep-2025
Official Symbol
SERPINH1provided by VGNC
Official Full Name
serpin family H member 1provided by VGNC
Primary source
VGNC:VGNC:46041
See related
Ensembl:ENSCAFG00845011365 RGD:12248603
Gene type
protein coding
RefSeq status
PROVISIONAL
Organism
Canis lupus familiaris (sub-species: familiaris)
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Carnivora; Caniformia; Canidae; Canis
Orthologs
all
Try the new Gene page
Try the new Transcripts and proteins table
See SERPINH1 in Genome Data Viewer
Location:
chromosome: 21
Exon count:
6
Annotation release Status Assembly Chr Location
106 current ROS_Cfam_1.0 (GCF_014441545.1) 21 NC_051825.1 (23235602..23244497, complement)
106 current Dog10K_Boxer_Tasha (GCF_000002285.5) 21 NC_006603.4 (22798470..22807285, complement)
106 current UU_Cfam_GSD_1.0 (GCF_011100685.1) 21 NC_049242.1 (23148229..23157093, complement)
106 current UMICH_Zoey_3.1 (GCF_005444595.1) 21 NC_049281.1 (23034077..23042936, complement)
106 current UNSW_CanFamBas_1.0 (GCF_013276365.1) 21 NC_049762.1 (23230397..23239216, complement)

Chromosome 21 - NC_051825.1Genomic Context describing neighboring genes Neighboring gene monoacylglycerol O-acyltransferase 2 Neighboring gene microtubule associated protein 6 Neighboring gene uncharacterized LOC111091527 Neighboring gene glycerophosphodiester phosphodiesterase domain containing 5

Go to nucleotide: Graphics FASTA GenBank

Related articles in PubMed

  1. Molecular Consequences of the SERPINH1/HSP47 Mutation in the Dachshund Natural Model of Osteogenesis Imperfecta. Lindert U, et al. J Biol Chem, 2015 Jul 17. PMID 26004778, Free PMC Article
  2. Population screening for the mutation associated with osteogenesis imperfecta in dachshunds. Eckardt J, et al. Vet Rec, 2013 Apr 6. PMID 23315765
  3. A missense mutation in the SERPINH1 gene in Dachshunds with osteogenesis imperfecta. Drögemüller C, et al. PLoS Genet, 2009 Jul. PMID 19629171, Free PMC Article
  4. The pH-dependent Client Release from the Collagen-specific Chaperone HSP47 Is Triggered by a Tandem Histidine Pair. Oecal S, et al. J Biol Chem, 2016 Jun 10. PMID 27129216, Free PMC Article
  5. Molecular basis for the action of the collagen-specific chaperone Hsp47/SERPINH1 and its structure-specific client recognition. Widmer C, et al. Proc Natl Acad Sci U S A, 2012 Aug 14. PMID 22847422, Free PMC Article

See all (7) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Data show that heat shock protein 47 (HSP47/SERPINH1) double mutant with histidine His(273) and His(274) exchanged for asparagines exhibits a much less pronounced pH dependence of collagen binding.
    Title: The pH-dependent Client Release from the Collagen-specific Chaperone HSP47 Is Triggered by a Tandem Histidine Pair.
  2. In Osteogenesis Imperfecta dachshunds, an SERPINH1/HSP47 (L326P) mutation affects the post-translational modification, secretion, and cross-linking of collagen type I.
    Title: Molecular Consequences of the SERPINH1/HSP47 Mutation in the Dachshund Natural Model of Osteogenesis Imperfecta.
  3. Osteogenesis imperfecta (OI) is a genetic disorder caused by a recessive mutation in the SERPINH1 gene causing defects in the development of collagen type I in dachshunds.
    Title: Population screening for the mutation associated with osteogenesis imperfecta in dachshunds.
  4. Crystal structures of Hsp47 in its free form and in complex with homotrimeric synthetic collagen model peptides, are presented.
    Title: Molecular basis for the action of the collagen-specific chaperone Hsp47/SERPINH1 and its structure-specific client recognition.
  5. A missense mutation (c.977C>T, p.L326P) located in an evolutionary conserved domain was perfectly associated with the Osteogenesis imperfecta phenotype in Dachshunds.
    Title: A missense mutation in the SERPINH1 gene in Dachshunds with osteogenesis imperfecta.
Submit: New GeneRIF Correction

Markers

Homology

Gene Ontology Provided by RefSeq

Function Evidence Code Pubs
enables collagen binding IEA
Inferred from Electronic Annotation
more info
 PubMed 
enables serine-type endopeptidase inhibitor activity IEA
Inferred from Electronic Annotation
more info
 PubMed 
Process Evidence Code Pubs
involved_in collagen fibril organization IEA
Inferred from Electronic Annotation
more info
 PubMed 
involved_in negative regulation of endopeptidase activity IEA
Inferred from Electronic Annotation
more info
 PubMed 
Component Evidence Code Pubs
located_in endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 PubMed 
located_in extracellular space IEA
Inferred from Electronic Annotation
more info
 PubMed 
Preferred Names
serpin H1

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_001165888.2 → NP_001159360.2  serpin H1 precursor

    Status: PROVISIONAL

    Source sequence(s)
    JAAUVH010000057
    UniProtKB/TrEMBL
    A0A8C0STN6, A0A8I3N7V2
    Related
    ENSCAFP00845015855.1, ENSCAFT00845020225.1
    Conserved Domains (1) summary
    cd02046
    Location:36 → 417
    serpinH1_CBP1; serpin family H member 1, collagen-binding protein 1

RefSeqs of Annotated Genomes: Canis lupus familiaris Annotation Release 106 details...Open this link in a new tab

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

Reference ROS_Cfam_1.0

Genomic

  1. NC_051825.1 Reference ROS_Cfam_1.0

    Range
    23235602..23244497 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_038429479.1 → XP_038285407.1  serpin H1 isoform X1

    UniProtKB/TrEMBL
    A0A8C0STN6, A0A8I3N7V2
    Related
    ENSCAFP00845015819.1, ENSCAFT00845020181.1
    Conserved Domains (1) summary
    cd02046
    Location:36 → 417
    serpinH1_CBP1; serpin family H member 1, collagen-binding protein 1

Alternate UMICH_Zoey_3.1

Genomic

  1. NC_049281.1 Alternate UMICH_Zoey_3.1

    Range
    23034077..23042936 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate UNSW_CanFamBas_1.0

Genomic

  1. NC_049762.1 Alternate UNSW_CanFamBas_1.0

    Range
    23230397..23239216 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate UU_Cfam_GSD_1.0

Genomic

  1. NC_049242.1 Alternate UU_Cfam_GSD_1.0

    Range
    23148229..23157093 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate Dog10K_Boxer_Tasha Primary Assembly

Genomic

  1. NC_006603.4 Alternate Dog10K_Boxer_Tasha Primary Assembly

    Range
    22798470..22807285 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

Gene LinkOut

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

Molecular Biology Databases
Research Materials