Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
871
Gene name Gene Name - the full gene name approved by the HGNC.
Serpin family H member 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SERPINH1
Synonyms (NCBI Gene) Gene synonyms aliases
AsTP3, CBP1, CBP2, HSP47, OI10, PIG14, PPROM, RA-A47, SERPINH2, gp46
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q13.5
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the serpin superfamily of serine proteinase inhibitors. The encoded protein is localized to the endoplasmic reticulum and plays a role in collagen biosynthesis as a collagen-specific molecular chaperone. Autoantibodies to the
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs137853892 T>C Pathogenic Coding sequence variant, missense variant
rs886039819 T>C Pathogenic Missense variant, coding sequence variant
rs1565244847 ->T Pathogenic Coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT022927 hsa-miR-124-3p Proteomics;Microarray 18668037
MIRT029883 hsa-miR-26b-5p Microarray 19088304
MIRT041847 hsa-miR-484 CLASH 23622248
MIRT041847 hsa-miR-484 CLASH 23622248
MIRT053747 hsa-miR-29b-3p Microarray 22942087
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003433 Process Chondrocyte development involved in endochondral bone morphogenesis IEA
GO:0003723 Function RNA binding HDA 22658674
GO:0004867 Function Serine-type endopeptidase inhibitor activity IBA
GO:0004867 Function Serine-type endopeptidase inhibitor activity IEA
GO:0004867 Function Serine-type endopeptidase inhibitor activity TAS 1309665
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600943 1546 ENSG00000149257
Protein
UniProt ID P50454
Protein name Serpin H1 (47 kDa heat shock protein) (Arsenic-transactivated protein 3) (AsTP3) (Cell proliferation-inducing gene 14 protein) (Collagen-binding protein) (Colligin) (Rheumatoid arthritis-related antigen RA-A47)
Protein function Binds specifically to collagen. Could be involved as a chaperone in the biosynthetic pathway of collagen.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00079 Serpin 45 409 Serpin (serine protease inhibitor) Domain
Sequence
Sequence length 418
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Collagen biosynthesis and modifying enzymes
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Osteogenesis Imperfecta Osteogenesis imperfecta type 10 rs137853892, rs1565244847 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Coronary artery disease Coronary artery disease N/A N/A GWAS
Myocardial Infarction Myocardial infarction N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Allergic Fungal Sinusitis Stimulate 31664133
Allergic Fungal Sinusitis Associate 34768968
Autistic Disorder Associate 18378158
Blister Associate 36315987
Bone Diseases Associate 30986427
Brain Diseases Associate 18378158
Brain Injuries Diffuse Associate 23435730
Carcinogenesis Associate 36104825
Carcinoma Hepatocellular Associate 30637779, 37181808, 38420809
Carcinoma Renal Cell Associate 29239102, 35876041