CCHCR1 (coiled-coil alpha-helical rod protein 1)

2009-11-01  

Identity

HGNC
CCHCR1
LOCATION
6p21.33
LOCUSID
54535
ALIAS
C6orf18,HCR,SBP,pg8
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 54535
MIM: 605310
HGNC: 13930
Ensembl: ENSG00000204536

Variants:

dbSNP: 54535
ClinVar: 54535
TCGA: ENSG00000204536
COSMIC: CCHCR1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000204536ENST00000376266Q8TD31
ENSG00000204536ENST00000396263A2ABH1
ENSG00000204536ENST00000396268Q8TD31
ENSG00000204536ENST00000426967A2ABH5
ENSG00000204536ENST00000428174Q5STF0
ENSG00000204536ENST00000448141E7EPK4
ENSG00000204536ENST00000448162A2ABH3
ENSG00000204536ENST00000451521Q8TD31
ENSG00000204536ENST00000451521A0A1U9X7G6
ENSG00000204536ENST00000455279A2ABH4
ENSG00000204536ENST00000488920D6RA02
ENSG00000204536ENST00000502557B0V092
ENSG00000204536ENST00000503420D6RAE7
ENSG00000204536ENST00000503934E7EQE8
ENSG00000204536ENST00000506831D6RD84
ENSG00000204536ENST00000507226D6RB88
ENSG00000204536ENST00000507459D6R9W9
ENSG00000204536ENST00000507751E9PGB6
ENSG00000204536ENST00000507829D6RDI7
ENSG00000204536ENST00000507892D6RBG1
ENSG00000204536ENST00000508683E9PHV1
ENSG00000204536ENST00000508852D6R9W9
ENSG00000204536ENST00000512418D6RE89
ENSG00000204536ENST00000513222E7EQC5
ENSG00000204536ENST00000652427A0A494C023
ENSG00000204536ENST00000652535A0A494C0D7

Expression (GTEx)

0
50
100
150
200
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA447230HIVDiseaseClinicalAnnotationassociatedPD21810746
PA450616nevirapineChemicalClinicalAnnotationassociatedPD21810746

References

Pubmed IDYearTitleCitations
171797472004miR-122, a mammalian liver-specific microRNA, is processed from hcr mRNA and may downregulate the high affinity cationic amino acid transporter CAT-1.289
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
198514452009High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.51
175306462007TNF polymorphisms in psoriasis: association of psoriatic arthritis with the promoter polymorphism TNF*-857 independent of the PSORS1 risk allele.22
172212182007The CCHCR1 (HCR) gene is relevant for skin steroidogenesis and downregulated in cultured psoriatic keratinocytes.18
156549602005The major psoriasis susceptibility locus PSORS1 is not a risk factor for late-onset psoriasis.15
195511382009CCHCR1 is up-regulated in skin cancer and associated with EGFR expression.13
181741932008The PSORS1 locus gene CCHCR1 affects keratinocyte proliferation in transgenic mice.12
192423542009The tumor necrosis factor polymorphism TNF (-308) is associated with susceptibility to meningococcal sepsis, but not with lethality.10
231891712012Centrosomal localization of the psoriasis candidate gene product, CCHCR1, supports a role in cytoskeletal organization.9

Citation

Dessen P

CCHCR1 (coiled-coil alpha-helical rod protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2009-11-01

Online version: http://atlasgeneticsoncology.org/gene/51239/cchcr1