SERPINH1 Back

serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)

External References:      Wikipedia GeneCards HUGO COSMIC Google Scholar

NCBI Description of SERPINH1
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 encoded protein have been found in patients with rheumatoid arthritis. Expression of this gene may be a marker for cancer, and nucleotide polymorphisms in this gene may be associated with preterm birth caused by preterm premature rupture of membranes. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 9.

Community Annotation of SERPINH1 Add / Edit SERPINH1: Annotations

No community annotations yet for SERPINH1.
Sort mutations by: Tumor type  Mutation type  Position  
Straightedge cursor Expand

Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

SERPINH1 is highly significantly mutated in
(none)
SERPINH1 is significantly mutated in
(none)
SERPINH1 is near significance in
(none)

Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for SERPINH1