CCHCR1

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
Identifiers
Aliases	CCHCR1, C6orf18, HCR, SBP, coiled-coil alpha-helical rod protein 1, pg8
External IDs	OMIM: 605310; MGI: 2385321; HomoloGene: 10396; GeneCards: CCHCR1; OMA:CCHCR1 - orthologs
Gene location (Human) Chr. Chromosome 6 (human)[1] Band 6p21.33 Start 31,142,439 bp[1] End 31,158,238 bp[1]
Gene location (Mouse) Chr. Chromosome 17 (mouse)[2] Band 17|17 B1 Start 35,827,997 bp[2] End 35,841,912 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in left testis right testis right uterine tube sural nerve mucosa of transverse colon apex of heart right hemisphere of cerebellum duodenum canal of the cervix right lobe of thyroid gland Top expressed in spermatocyte spermatid seminiferous tubule otic vesicle ventricular zone lip yolk sac gastrula tail of embryo genital tubercle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding identical protein binding Cellular component centriole nucleus cytoplasm cytosol Biological process multicellular organism development cell differentiation protein export from nucleus Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 54535 240084 Ensembl ENSG00000204536 ENSG00000206355 ENSG00000224180 ENSG00000206457 ENSG00000223533 ENSG00000234114 ENSMUSG00000040312 UniProt Q8TD31 Q8K2I2 RefSeq (mRNA) NM_001105563 NM_001105564 NM_019052 NM_001394641 NM_001394642 NM_001394643 NM_001394644 NM_001394646 NM_001394647 NM_001394648 NM_001394649 NM_001394645 NM_146248 NM_001372297 NM_001372298 NM_001372299 NM_001372300 RefSeq (protein) NP_001099033 NP_001099034 NP_061925 NP_666360 NP_001359226 NP_001359227 NP_001359228 NP_001359229 Location (UCSC) Chr 6: 31.14 – 31.16 Mb Chr 17: 35.83 – 35.84 Mb PubMed search [3] [4]
Wikidata
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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

CCHCR1 has been shown to interact with POLR2C,^[9] KRT17 ,^[10] TOP3B,^[11] Steroidogenic acute regulatory protein,^[10] TRAF4,^[12] HLA-C,^[13] TCF19,^[13] SNX29,^[14] EEF1D,^[15] and EEF1B2.^[15]

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]

See also

• Coiled coil