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Aliases for CCHCR1 Gene

Aliases for CCHCR1 Gene

  • Coiled-Coil Alpha-Helical Rod Protein 1 2 3 5
  • Alpha-Helical Coiled-Coil Rod Protein 3 4
  • Putative Gene 8 Protein 3 4
  • C6orf18 3 4
  • Pg8 3 4
  • HCR 3 4
  • HCR (A-Helix Coiled-Coil Rod Homologue) 3
  • Chromosome 6 Open Reading Frame 18 2
  • StAR-Binding Protein 3
  • SBP 3

External Ids for CCHCR1 Gene

Previous HGNC Symbols for CCHCR1 Gene

  • C6orf18

Previous GeneCards Identifiers for CCHCR1 Gene

  • GC06M031219
  • GC06M030912

Summaries for CCHCR1 Gene

GeneCards Summary for CCHCR1 Gene

CCHCR1 (Coiled-Coil Alpha-Helical Rod Protein 1) is a Protein Coding gene. Diseases associated with CCHCR1 include Psoriasis and Peeling Skin Syndrome.

UniProtKB/Swiss-Prot for CCHCR1 Gene

  • May be a regulator of keratinocyte proliferation or differentiation.

Gene Wiki entry for CCHCR1 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CCHCR1 Gene

Genomics for CCHCR1 Gene

Regulatory Elements for CCHCR1 Gene

Enhancers for CCHCR1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06F031352 0.8 FANTOM5 ENCODE 34.1 -198.0 -197954 7.0 HDGF PKNOX1 ATF1 ZNF493 WRNIP1 ZFP64 SIN3A NSD2 ZNF2 GLIS2 LY6G5B DDX39B ATF6B NFKBIL1 LSM2 PPP1R10 DHX16 HLA-C PPT2 GTF2H4
GH06F031139 0.8 Ensembl ENCODE 32.8 +18.5 18511 1.1 ZNF664 MAZ HLF TEAD4 FOS CCHCR1 PSORS1C2 HCG22 LOC101929072 POLR2LP1
GH06F031144 0.2 ENCODE 32.5 +13.4 13441 1.2 SCRT1 SCRT2 CCHCR1 PSORS1C3 CDSN PSORS1C1 C6orf15 ENSG00000272501 POU5F1 DPCR1 HCG22 LOC101929072
GH06F031167 0.5 Ensembl 26.8 -9.7 -9663 0.2 CCHCR1 ENSG00000272501 SNORD117 DDX39B PIR34317 PSORS1C3
GH06F031157 0.2 ENCODE 25.3 -0.5 -502 3.0 HDGF PKNOX1 CREB3L1 ZFP64 ARID4B SIN3A YY1 ZNF143 FOS CEBPZ CCHCR1 LSM2 DDX39B ABCF1 PPT2 PSORS1C1 ENSG00000272501 LY6G5B RPL3P2 VARS
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around CCHCR1 on UCSC Golden Path with GeneCards custom track

Promoters for CCHCR1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000487791 -462 2201 HDGF PKNOX1 CREB3L1 ZFP64 ARID4B SIN3A YY1 ZNF143 FOS CEBPZ

Genomic Location for CCHCR1 Gene

Chromosome:
6
Start:
31,142,439 bp from pter
End:
31,158,238 bp from pter
Size:
15,800 bases
Orientation:
Minus strand

Genomic View for CCHCR1 Gene

Genes around CCHCR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCHCR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCHCR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Proteins for CCHCR1 Gene

  • Protein details for CCHCR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TD31-CCHCR_HUMAN
    Recommended name:
    Coiled-coil alpha-helical rod protein 1
    Protein Accession:
    Q8TD31
    Secondary Accessions:
    • A2ABH6
    • E9PE84
    • Q2TB67
    • Q5SQ82
    • Q5STE9
    • Q9NRK8
    • Q9NWY9
    • Q9NXJ4
    • Q9NXK3
    • Q9Y6W1
    • Q9Y6W2

    Protein attributes for CCHCR1 Gene

    Size:
    782 amino acids
    Molecular mass:
    88671 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAF74221.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA81890.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA82158.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=BAA91236.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB63313.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=BAC54937.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for CCHCR1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CCHCR1 Gene

Post-translational modifications for CCHCR1 Gene

  • Ubiquitination at Lys 119 and Lys 402
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for CCHCR1
  • Santa Cruz Biotechnology (SCBT) Antibodies for CCHCR1

No data available for DME Specific Peptides for CCHCR1 Gene

Domains & Families for CCHCR1 Gene

Protein Domains for CCHCR1 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CCHCR1: view

No data available for Gene Families and UniProtKB/Swiss-Prot for CCHCR1 Gene

Function for CCHCR1 Gene

Molecular function for CCHCR1 Gene

UniProtKB/Swiss-Prot Function:
May be a regulator of keratinocyte proliferation or differentiation.
genes like me logo Genes that share phenotypes with CCHCR1: view

Animal Model Products

miRNA for CCHCR1 Gene

miRTarBase miRNAs that target CCHCR1

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CCHCR1 Gene

Localization for CCHCR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CCHCR1 Gene

Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CCHCR1 Gene COMPARTMENTS Subcellular localization image for CCHCR1 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for CCHCR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IDA --
GO:0005814 centriole IDA 23644468
genes like me logo Genes that share ontologies with CCHCR1: view

Pathways & Interactions for CCHCR1 Gene

SuperPathways for CCHCR1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CCHCR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006611 protein export from nucleus IEA --
GO:0007275 multicellular organism development IEA --
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with CCHCR1: view

No data available for Pathways by source and SIGNOR curated interactions for CCHCR1 Gene

Drugs & Compounds for CCHCR1 Gene

(2) Drugs for CCHCR1 Gene - From: PharmGKB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Nevirapine Approved Pharma 222

(1) Additional Compounds for CCHCR1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CCHCR1: view

Transcripts for CCHCR1 Gene

Unigene Clusters for CCHCR1 Gene

Coiled-coil alpha-helical rod protein 1:
Representative Sequences:

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CCHCR1 Gene

No ASD Table

Relevant External Links for CCHCR1 Gene

GeneLoc Exon Structure for
CCHCR1
ECgene alternative splicing isoforms for
CCHCR1

Expression for CCHCR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CCHCR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CCHCR1 Gene

This gene is overexpressed in Testis (x8.9).

Protein differential expression in normal tissues from HIPED for CCHCR1 Gene

This gene is overexpressed in Adrenal (59.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CCHCR1 Gene



Protein tissue co-expression partners for CCHCR1 Gene

NURSA nuclear receptor signaling pathways regulating expression of CCHCR1 Gene:

CCHCR1

SOURCE GeneReport for Unigene cluster for CCHCR1 Gene:

Hs.485075

mRNA Expression by UniProt/SwissProt for CCHCR1 Gene:

Q8TD31-CCHCR_HUMAN
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.
genes like me logo Genes that share expression patterns with CCHCR1: view

Primer Products

Orthologs for CCHCR1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CCHCR1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CCHCR1 34 35
  • 99.19 (n)
dog
(Canis familiaris)
Mammalia CCHCR1 34 35
  • 88.02 (n)
cow
(Bos Taurus)
Mammalia CCHCR1 34 35
  • 86.64 (n)
mouse
(Mus musculus)
Mammalia Cchcr1 34 16 35
  • 80.46 (n)
rat
(Rattus norvegicus)
Mammalia Cchcr1 34
  • 80.3 (n)
oppossum
(Monodelphis domestica)
Mammalia CCHCR1 35
  • 60 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CCHCR1 35
  • 49 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CCHCR1 35
  • 36 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cchcr1 34
  • 44.28 (n)
zebrafish
(Danio rerio)
Actinopterygii CCHCR1 (1 of 2) 35
  • 32 (a)
OneToMany
CCHCR1 (2 of 2) 35
  • 31 (a)
OneToMany
Species where no ortholog for CCHCR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CCHCR1 Gene

ENSEMBL:
Gene Tree for CCHCR1 (if available)
TreeFam:
Gene Tree for CCHCR1 (if available)

Paralogs for CCHCR1 Gene

No data available for Paralogs for CCHCR1 Gene

Variants for CCHCR1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for CCHCR1 Gene

CCHCR_HUMAN-Q8TD31
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 variations from dbSNP and Humsavar for CCHCR1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs746647 drug-response 31,146,405(-) CGTCA(C/T)TGGTG intron-variant
rs10602569 -- 31,157,290(+) CAAGC(-/AACT)CAACT intron-variant, upstream-variant-2KB
rs1063876 -- 31,142,718(-) TTCCC(A/C/G)GGGTC splice-acceptor-variant
rs1063877 -- 31,142,475(-) TGAGT(C/T)TGAAT utr-variant-3-prime
rs1065459 -- 31,159,549(+) CGGGG(C/T)TGGCT upstream-variant-2KB, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for CCHCR1 Gene

Variant ID Type Subtype PubMed ID
dgv1174e214 CNV gain 21293372
esv2731791 CNV deletion 23290073
esv2759414 CNV gain+loss 17122850
esv33724 CNV gain 17666407
esv3411275 CNV duplication 20981092
nsv1074389 CNV deletion 25765185
nsv1122126 CNV deletion 24896259
nsv1144137 CNV deletion 24896259
nsv428140 CNV gain+loss 18775914
nsv524061 CNV loss 19592680
nsv525933 CNV loss 19592680
nsv601264 CNV loss 21841781
nsv601481 CNV loss 21841781

Variation tolerance for CCHCR1 Gene

Residual Variation Intolerance Score: 97.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 29.69; 99.89% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CCHCR1 Gene

Human Gene Mutation Database (HGMD)
CCHCR1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCHCR1

Disorders for CCHCR1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CCHCR1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
psoriasis
peeling skin syndrome
  • deciduous skin
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CCHCR1

Genetic Association Database (GAD)
CCHCR1
Human Genome Epidemiology (HuGE) Navigator
CCHCR1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CCHCR1
genes like me logo Genes that share disorders with CCHCR1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CCHCR1 Gene

Publications for CCHCR1 Gene

  1. A candidate gene for psoriasis near HLA-C, HCR (Pg8), is highly polymorphic with a disease-associated susceptibility allele. (PMID: 10888604) Asumalahti K. … Kere J. (Hum. Mol. Genet. 2000) 2 3 4 22 64
  2. Coding haplotype analysis supports HCR as the putative susceptibility gene for psoriasis at the MHC PSORS1 locus. (PMID: 11875053) Asumalahti K. … Kere J. (Hum. Mol. Genet. 2002) 3 4 22 64
  3. The HCR gene on 6p21 is unlikely to be a psoriasis susceptibility gene. (PMID: 11348465) O'Brien K.P. … Staahle-Baeckdahl M. (J. Invest. Dermatol. 2001) 3 4 22 64
  4. Association analysis using refined microsatellite markers localizes a susceptibility locus for psoriasis vulgaris within a 111kb segment telomeric to the HLA-C gene. (PMID: 10545595) Oka A. … Inoko H. (Hum. Mol. Genet. 1999) 2 3 4 64
  5. Genome-wide association study identifies variations in 6p21.3 associated with nevirapine-induced rash. (PMID: 21810746) Chantarangsu S. … Nakamura Y. (Clin. Infect. Dis. 2011) 3 46 64

Products for CCHCR1 Gene

Sources for CCHCR1 Gene

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