CCHCR1
Protein found in humans
From Wikipedia, the free encyclopedia
Coiled-coil alpha-helical rod protein 1, also known as CCHCR1, is a protein which in humans is encoded by the CCHCR1 gene.[5][6][7]
| CCHCR1 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aliases | CCHCR1, C6orf18, HCR, SBP, coiled-coil alpha-helical rod protein 1, pg8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 605310; MGI: 2385321; GeneCards: CCHCR1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||
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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[clarification needed], and a small amount of beta sheets, according to PELE.[8]
Expression
Function
May be a regulator of keratinocyte proliferation or differentiation.
Interacting Proteins
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.[16] Defective functioning of CCHCR1 may lead to abnormal keratinocyte proliferation which is a key feature of psoriasis.[17]
CCHCR1 polymorphisms have also been found to be associated with multiple sclerosis.[18]