CCHCR1

Last updated
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
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

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
View/Edit Human View/Edit Mouse

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]

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

Related Research Articles

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References

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Further reading