Gene Gene information from NCBI Gene database.
Entrez ID 871
Gene name Serpin family H member 1
Gene symbol SERPINH1
Synonyms (NCBI Gene)
AsTP3CBP1CBP2HSP47OI10PIG14PPROMRA-A47SERPINH2gp46
Chromosome 11
Chromosome location 11q13.5
Summary 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.
3
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.
474
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600943 1546 ENSG00000149257
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
99
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Osteogenesis imperfecta type 10 Pathogenic rs137853892, rs1565244847 RCV000023052
RCV000779627
Preterm premature rupture of membranes Pathogenic rs77592601 RCV000009196
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs7105575 RCV005893013
Cervical cancer Benign rs7105575 RCV005893014
Gastric cancer Benign rs7105575 RCV005893016
Lung cancer Benign rs7105575 RCV005893019
Associations from Text MiningDisease 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