Gene

serpinh1a

ID
ZDB-GENE-080219-21
Name
serpin peptidase inhibitor, clade H (heat shock protein 47), member 1a
Symbol
serpinh1a Nomenclature History
Previous Names
  • hsp47
  • wu:fa97d12
  • wu:fc59b06
  • zgc:171630
Type
protein_coding_gene
Location
Chr: 10 Mapping Details/Browsers
Description
Predicted to enable serine-type endopeptidase inhibitor activity. Predicted to be involved in collagen fibril organization and negative regulation of endopeptidase activity. Predicted to be located in extracellular space. Predicted to be active in endoplasmic reticulum. 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).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
No data available
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With serpinh1a Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
osteogenesis imperfecta type 10 Alliance Osteogenesis imperfecta, type X 613848
preterm premature rupture of the membranes Alliance {Preterm premature rupture of the membranes, susceptibility to} 610504
Associated With serpinh1a Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR023795 Serpin, conserved site
Domain IPR023796 Serpin domain
Family IPR000215 Serpin family
Family IPR033547 Serpin H1
Homologous_superfamily IPR036186 Serpin superfamily
Homologous_superfamily IPR042178 Serpin superfamily, domain 1
Homologous_superfamily IPR042185 Serpin superfamily, domain 2
Domain Details Per Protein
Protein Length Serpin, conserved site Serpin domain Serpin family Serpin H1 Serpin superfamily Serpin superfamily, domain 1 Serpin superfamily, domain 2
UniProtKB:A8WFU6 403
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations