Coiled-coil alpha-helical rod protein 1, also known as CCHCR1, is a

protein Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, respo ...

which in humans is encoded by the ''CCHCR1''

gene In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba ...

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 Tetrapods (; ) are four-limbed vertebrate animals constituting the superclass Tetrapoda (). It includes extant and extinct amphibians, sauropsids (reptiles, including dinosaurs and therefore birds) and synapsids (pelycosaurs, extinct therapsids ...

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 The alpha helix (α-helix) is a common motif in the secondary structure of proteins and is a right hand-helix conformation in which every backbone N−H group hydrogen bonds to the backbone C=O group of the amino acid located four residues ear ...

, coils, and a small amount of

beta sheets The beta sheet, (β-sheet) (also β-pleated sheet) is a common motif of the regular protein secondary structure. Beta sheets consist of beta strands (β-strands) connected laterally by at least two or three backbone hydrogen bonds, forming a gen ...

, according to PELE.

Expression

Function

May be a regulator of keratinocyte proliferation or differentiation.

Interacting Proteins

CCHCR1 has been shown to

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with

POLR2C DNA-directed RNA polymerase II subunit RPB3 is an enzyme that in humans is encoded by the ''POLR2C'' gene. Function This gene encodes the third largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in ...

KRT17 Keratin, type I cytoskeletal 17 is a protein that in humans is encoded by the ''KRT17'' gene. Keratin 17 is a type I cytokeratin. It is found in nail beds, hair follicles, sebaceous glands, and other epidermal appendages. Mutations in the gene e ...

TOP3B DNA topoisomerase 3-beta-1 is an enzyme that in humans is encoded by the ''TOP3B'' gene. This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This enzyme catalyzes the trans ...

Steroidogenic acute regulatory protein The steroidogenic acute regulatory protein, commonly referred to as StAR (STARD1), is a transport protein that regulates cholesterol transfer within the mitochondria, which is the rate-limiting step in the production of steroid hormones. It is p ...

TRAF4 TNF receptor-associated factor 4 (TRAF4) also known as RING finger protein 83 (RNF83) is a protein that in humans is encoded by the ''TRAF4'' gene. TRAF4 is a member of the TNF receptor associated factor (TRAF) family, a family of scaffold protein ...

HLA-C HLA-C belongs to the MHC (human = HLA) class I heavy chain receptors. The C receptor is a heterodimer consisting of a HLA-C mature gene product and β2-microglobulin. The mature C chain is anchored in the membrane. MHC Class I molecules, like HLA ...

, TCF19, SNX29,

EEF1D Elongation factor 1-delta is a protein that in humans is encoded by the ''EEF1D'' gene. Function This gene encodes a subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome ...

, and

EEF1B2 Elongation factor 1-beta is a protein that in humans is encoded by the ''EEF1B2'' gene. Function This gene encodes a translation elongation factor. The protein is a guanine nucleotide exchange factor involved in the transfer of aminoacylated ...

Clinical significance

In genetically engineered mice, certain CCHCR1 polymorphisms cause upregulation of the expression of

cytokeratin Cytokeratins are keratin proteins found in the intracytoplasmic cytoskeleton of epithelial tissue. They are an important component of intermediate filaments, which help cells resist mechanical stress. Expression of these cytokeratins within epit ...

s 6 ( KRT6A), 16 ( KRT16) and 17 (

) and change in expression in other genes associated with terminal differentiation and formation of the

cornified Keratin () is one of a family of structural fibrous proteins also known as ''scleroproteins''. Alpha-keratin (α-keratin) is a type of keratin found in vertebrates. It is the key structural material making up scales, hair, nails, feathers, hor ...

cell envelope. These CCHCR1 polymorphisms may therefore be associated with a susceptibility to

psoriasis Psoriasis is a long-lasting, noncontagious autoimmune disease characterized by raised areas of abnormal skin. These areas are red, pink, or purple, dry, itchy, and scaly. Psoriasis varies in severity from small, localized patches to complete ...

. Defective functioning of CCHCR1 may lead to abnormal

keratinocyte Keratinocytes are the primary type of Cell (biology), cell found in the epidermis (skin), epidermis, the outermost layer of the skin. In humans, they constitute 90% of epidermal skin cells. Basal cells in the stratum basale, basal layer (''str ...

proliferation which is a key feature of psoriasis. CCHCR1 polymorphisms have also been found to be associated with

multiple sclerosis Multiple (cerebral) sclerosis (MS), also known as encephalomyelitis disseminata or disseminated sclerosis, is the most common demyelinating disease, in which the insulating covers of nerve cells in the brain and spinal cord are damaged. This d ...