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

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

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
Homologous_superfamily	IPR036186	Serpin superfamily
Homologous_superfamily	IPR042178	Serpin superfamily, domain 1
Homologous_superfamily	IPR042185	Serpin superfamily, domain 2