CCHCR1

Gene

The Human CCHCR1 gene is located at 6p21.33. It is also known as Coiled-Coil Alphahelical Rod Protein 1, C6orf18, Putative Gene 8 Protein, SBP, HCR (A-Helix Coiled-Coil Rod Homologue), pg8, StAR-Binding Protein, and Pg8.

Homology

Homologes for CCHCR1 are conserved through tetrapods.

Paralogs

Orthologs

CCHCR1 has orthologs throughout vertebrates.

Distant Homologs

Homologous Domains

Phylogeny

Phylogenetic analysis with ClustalW indicated that CCHCR1

The CCHCR1 gene has

Protein

Structure

The structure of CCHCR1 is primarily composed of alpha-helices, coils, and a small amount of beta sheets, according to PELE.

Expression

Function

May be a regulator of keratinocyte proliferation or differentiation.

Interacting Proteins

CCHCR1 has been shown to interact with POLR2C, KRT17 , TOP3B, Steroidogenic acute regulatory protein, TRAF4, HLA-C, TCF19, SNX29, EEF1D, and EEF1B2.

Clinical significance

In genetically engineered mice, certain CCHCR1 polymorphisms cause upregulation of the expression of cytokeratins 6 (KRT6A), 16 (KRT16) and 17 (KRT17) and change in expression in other genes associated with terminal differentiation and formation of the cornified cell envelope. These CCHCR1 polymorphisms may therefore be associated with a susceptibility to psoriasis. Defective functioning of CCHCR1 may lead to abnormal keratinocyte proliferation which is a key feature of psoriasis.

CCHCR1 polymorphisms have also been found to be associated with multiple sclerosis.

References

References

1. "Entrez Gene: CCHCR1 coiled-coil alpha-helical rod protein 1".
2. (June 2000). "A candidate gene for psoriasis near HLA-C, HCR (Pg8), is highly polymorphic with a disease-associated susceptibility allele". Hum. Mol. Genet..
3. (November 1999). "Association analysis using refined microsatellite markers localizes a susceptibility locus for psoriasis vulgaris within a 111 kb segment telomeric to the HLA-C gene". Hum. Mol. Genet..
4. Boudreau, A. E.. (Mar 1999). "PELE—a version of the MELTS software program for the PC platform". Comput. Geosci..
5. (September 2005). "RNA polymerase II subunit 3 is retained in the cytoplasm by its interaction with HCR, the psoriasis vulgaris candidate gene product". J. Cell Sci..
6. (2012). "Centrosomal localization of the psoriasis candidate gene product, CCHCR1, supports a role in cytoskeletal organization". PLOS ONE.
7. (16 August 2011). "A high-resolution integrated map of copy number polymorphisms within and between breeds of the modern domesticated dog". BMC Genomics.
8. (Aug 2002). "Involvement of TRAF4 in oxidative activation of c-Jun N-terminal kinase". The Journal of Biological Chemistry.
9. (Jul 2012). "MHC-resident variation affects risks after unrelated donor hematopoietic cell transplantation". Science Translational Medicine.
10. (23 February 2010). "Influence of genetic background and tissue types on global DNA methylation patterns". PLOS ONE.
11. (31 December 2010). "The eEF1γ subunit contacts RNA polymerase II and binds vimentin promoter region". PLOS ONE.
12. (August 2004). "Transgenic mouse models support HCR as an effector gene in the PSORS1 locus". Hum. Mol. Genet..
13. (April 2008). "The PSORS1 locus gene CCHCR1 affects keratinocyte proliferation in transgenic mice". Hum. Mol. Genet..
14. (2015). "Susceptibility Genes for Multiple Sclerosis Identified in a Gene-Based Genome-Wide Association Study". Journal of Clinical Neurology.