Human Gene CCHCR1 (uc011gwf.2) Description and Page Index
  Description: Homo sapiens coiled-coil alpha-helical rod protein 1 (CCHCR1), transcript variant 3, mRNA.
Transcript (Including UTRs)
   Position: chr6_mann_hap4:2,458,574-2,474,393 Size: 15,820 Total Exon Count: 18 Strand: -
Coding Region
   Position: chr6_mann_hap4:2,458,727-2,473,189 Size: 14,463 Coding Exon Count: 17 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDMicroarray
RNA StructureProtein StructureOther SpeciesmRNA DescriptionsOther NamesModel Information
Methods
Data last updated: 2013-06-14

+  Sequence and Links to Tools and Databases
  Press "+" in the title bar above to open this section.

-  Comments and Description Text from UniProtKB
  ID: CCHCR_HUMAN
DESCRIPTION: RecName: Full=Coiled-coil alpha-helical rod protein 1; AltName: Full=Alpha-helical coiled-coil rod protein; AltName: Full=Putative gene 8 protein; Short=Pg8;
FUNCTION: May be a regulator of keratinocyte proliferation or differentiation.
SUBCELLULAR LOCATION: Cytoplasm. Nucleus.
TISSUE SPECIFICITY: Found in all tissues tested, abundantly expressed in heart, liver, skeletal muscle, kidney and pancreas, and to a lesser extent in lung and placenta. Overexpressed in keratinocytes of psoriatic lesions.
POLYMORPHISM: HCR*WWCC is associated with susceptibility to psoriasis. Psoriasis is a chronic inflammatory dermatosis that affects approximately 2% of the population. It is a multifactorial disease characterized by red, scaly skin lesions that are usually found on the scalp, elbows, and knees, and may be associated with severe arthritis. The lesions are caused by hyperproliferative keratinocytes and infiltration of inflammatory cells into the dermis and epidermis. The usual age of onset of psoriasis is between 15 and 30 years, although it can present at any age. Association of HCR with psoriasis seem to be due to linkage disequilibrium with Cw*06:02 (PubMed:11348465). HCR is unlikely to be directly involved in psoriasis development.
SEQUENCE CAUTION: Sequence=AAF74221.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAA81890.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAA82158.1; Type=Erroneous gene model prediction; Sequence=BAA91236.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB63313.1; Type=Erroneous gene model prediction; Sequence=BAC54937.1; Type=Erroneous gene model prediction;

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database: CCHCR1
CDC HuGE Published Literature: CCHCR1
Positive Disease Associations: Behcet Syndrome , Colitis, Ulcerative , Nevirapine , Prostatic Neoplasms , Psoriasis
Related Studies:
  1. Behcet Syndrome
    Elaine F Remmers et al. Nature genetics 2010, , Nature genetics. [PubMed 20622878]
  2. Behcet Syndrome
    Elaine F Remmers et al. Nature genetics 2010, , Nature genetics. [PubMed 20622878]
  3. Behcet Syndrome
    Elaine F Remmers et al. Nature genetics 2010, , Nature genetics. [PubMed 20622878]
           more ... click here to view the complete list

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  Microarray Expression Data
 
Expression ratio colors:

GNF Expression Atlas 2 Data from U133A and GNF1H Chips

      
      
      
     
    
     
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GNF Expression Atlas 1 Human Data on Affy U95 Chips

      
    
     
      
    
    
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -34.80123-0.283 Picture PostScript Text
3' UTR -56.30153-0.368 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR009800 - HCR

Pfam Domains:
PF07111 - Alpha helical coiled-coil rod protein (HCR)

ModBase Predicted Comparative 3D Structure on Q8TD31
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
Jackson Lab     
Protein Sequence     
Alignment     

-  Descriptions from all associated GenBank mRNAs
  AK000533 - Homo sapiens cDNA FLJ20526 fis, clone KAT10627.
AB029331 - Homo sapiens HCR (a-helix coiled-coil rod homologue) mRNA, complete cds.
AB112475 - Homo sapiens SBP 1b mRNA for StAR protein binding protein 1b, complete cds.
AB112474 - Homo sapiens SBP mRNA for StAR protein binding protein, complete cds.
AK000204 - Homo sapiens cDNA FLJ20197 fis, clone COLF0996.
AF216493 - Homo sapiens a-helical protein (HCR) mRNA, complete cds.
AK289446 - Homo sapiens cDNA FLJ78692 complete cds.
AK000217 - Homo sapiens cDNA FLJ20210 fis, clone COLF1787.
AK295494 - Homo sapiens cDNA FLJ54473 complete cds, highly similar to Coiled-coil alpha-helical rod protein 1.
BC110534 - Homo sapiens coiled-coil alpha-helical rod protein 1, mRNA (cDNA clone MGC:126371 IMAGE:40035162), complete cds.
BC110535 - Homo sapiens coiled-coil alpha-helical rod protein 1, mRNA (cDNA clone MGC:126372 IMAGE:40035164), complete cds.
AY029160 - Homo sapiens alpha helical coiled-coil rod protein (HCR) mRNA, psoriasis-associated allele, complete cds.
CR457227 - Homo sapiens full open reading frame cDNA clone RZPDo834B046D for gene C6orf18, chromosome 6 open reading frame 18; complete cds, incl. stopcodon.
AK310626 - Homo sapiens cDNA, FLJ17668.

-  Other Names for This Gene
  Alternate Gene Symbols: A2ABH6, C6orf18, CCHCR_HUMAN, HCR, NM_019052, NP_061925, Q2TB67, Q5SQ82, Q5STE9, Q8TD31, Q9NRK8, Q9NWY9, Q9NXJ4, Q9NXK3, Q9Y6W1, Q9Y6W2
UCSC ID: uc011gwf.2
RefSeq Accession: NM_019052
Protein: Q8TD31 (aka CCHCR_HUMAN