1. Gene
  2. Serpinh1 - serine (or cysteine) peptidase inhibitor, clade H, member 1 Gene

Serpinh1 - serine (or cysteine) peptidase inhibitor, clade H, member 1 Gene

Mus musculus

Also known as J6; Cbp1; Cbp2; gp46; Hsp47; BERF-1; Serpinh2

Gene ID: 12406 | Gene type: protein coding

About Serpinh1

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; lower jaw tooth; 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, Apr 2022]

Serpinh1 Products(10)

mRNA Protein Name
NM_001111043.2 NP_001104513.1 serpin H1 precursor
NM_001111044.2 NP_001104514.1 serpin H1 precursor
NM_001285776.2 NP_001272705.1 serpin H1 precursor
NM_001412217.1 NP_001399146.1 serpin H1 precursor
NM_001412218.1 NP_001399147.1 serpin H1 precursor
NM_001412219.1 NP_001399148.1 serpin H1 precursor
NM_001412220.1 NP_001399149.1 serpin H1 precursor
NM_001412221.1 NP_001399150.1 serpin H1 precursor
NM_001412222.1 NP_001399151.1 serpin H1 precursor
NM_009825.3 NP_033955.2 serpin H1 precursor
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
10862616 MGI
enables unfolded protein binding IDA
IDA: Inferred from direct assay
10862616 MGI
Biological Process GO Annotation Evidence Reference Source
acts upstream of or within chondrocyte development involved in endochondral bone morphogenesis IMP
IMP: Inferred from mutant phenotype
22492985 MGI
acts upstream of or within collagen biosynthetic process IMP
IMP: Inferred from mutant phenotype
10995453 MGI
acts upstream of or within collagen fibril organization IMP
IMP: Inferred from mutant phenotype
10995453 MGI
acts upstream of or within protein maturation IMP
IMP: Inferred from mutant phenotype
10995453 MGI
Cellular Component GO Annotation Evidence Reference Source
located in cytoplasm IDA
IDA: Inferred from direct assay
8018053 MGI
located in endoplasmic reticulum IDA
IDA: Inferred from direct assay
21606205 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

serpin H1

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

Orthologs Information

Species Symbol Source ID
Homo sapiens Serpinh1 NCBI NCBI:871