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Aliases for CCHCR1 Gene

Aliases for CCHCR1 Gene

  • Coiled-Coil Alpha-Helical Rod Protein 1 2 3
  • C6orf18 3 4 6
  • HCR 3 4 6
  • Alpha-Helical Coiled-Coil Rod Protein 3 4
  • Putative Gene 8 Protein 3 4
  • Pg8 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 Symbols for CCHCR1 Gene

  • C6orf18

Summaries for CCHCR1 Gene

GeneCards Summary for CCHCR1 Gene

CCHCR1 (Coiled-Coil Alpha-Helical Rod Protein 1) is a Protein Coding gene.

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

Genomic Location for CCHCR1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CCHCR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Regulatory Elements for CCHCR1 Gene

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

Proteomics data for CCHCR1 Gene at MOPED

Post-translational modifications for CCHCR1 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys119 and Lys402

No data available for DME Specific Peptides for CCHCR1 Gene

Domains for CCHCR1 Gene

Protein Domains for CCHCR1 Gene

InterPro:
Blocks:
ProtoNet:
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

Gene Ontology (GO) - Molecular Function for CCHCR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with CCHCR1: view

Phenotypes for CCHCR1 Gene

GenomeRNAi human phenotypes for CCHCR1:
genes like me logo Genes that share phenotypes with CCHCR1: view

miRNA for CCHCR1 Gene

miRTarBase miRNAs that target CCHCR1

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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
nucleus 5

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 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 organismal 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 for CCHCR1 Gene

Compounds for CCHCR1 Gene

(2) Novoseek inferred chemical compound relationships for CCHCR1 Gene

Compound -log(P) Hits PubMed IDs
steroid 21.5 2
cholesterol 11.1 1

(1) PharmGKB related drug/compound annotations for CCHCR1 Gene

Drug/compound Annotation
nevirapine CA
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:

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 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 (8.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CCHCR1 Gene

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 expressions with CCHCR1: view

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 36
  • 99.19 (n)
  • 99.1 (a)
CCHCR1 37
  • 82 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CCHCR1 36
  • 86.64 (n)
  • 83.52 (a)
CCHCR1 37
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CCHCR1 36
  • 88.02 (n)
  • 83.78 (a)
CCHCR1 37
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cchcr1 36
  • 80.46 (n)
  • 75.1 (a)
Cchcr1 16
Cchcr1 37
  • 74 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CCHCR1 37
  • 60 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CCHCR1 37
  • 49 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cchcr1 36
  • 80.3 (n)
  • 75.03 (a)
lizard
(Anolis carolinensis)
Reptilia CCHCR1 37
  • 36 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cchcr1 36
  • 44.28 (n)
  • 37.95 (a)
zebrafish
(Danio rerio)
Actinopterygii CCHCR1 (1 of 2) 37
  • 32 (a)
OneToMany
CCHCR1 (2 of 2) 37
  • 31 (a)
OneToMany
Species with no ortholog for CCHCR1:
  • 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

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

No data available for Paralogs for CCHCR1 Gene

Variants for CCHCR1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for CCHCR1 Gene

Q8TD31-CCHCR_HUMAN
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 MAF
rs1576 - 31,142,614(-) CAGCT(C/G)CAATC reference, missense
rs12364 -- 31,143,009(-) TCAGC(A/T)TCTGC reference, synonymous-codon
rs130065 - 31,154,723(-) TGCGG(C/T)GGCTG reference, missense, intron-variant
rs130066 - 31,154,538(-) GGGAG(C/G)CAGCG reference, missense, intron-variant
rs130067 - 31,150,734(-) CTGGA(A/C)ACCAT reference, missense, utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
esv2731791 CNV Deletion 23290073
dgv1918e1 CNV Complex 17122850
dgv1919e1 CNV Complex 17122850
nsv428140 CNV Gain+Loss 18775914
esv690 CNV CNV 17122850
nsv525933 CNV Loss 19592680
nsv884137 CNV Loss 21882294
nsv524061 CNV Loss 19592680
esv33724 CNV Gain 17666407
nsv884138 CNV Loss 21882294

Relevant External Links for CCHCR1 Gene

HapMap Linkage Disequilibrium report
CCHCR1
Human Gene Mutation Database (HGMD)
CCHCR1

Disorders for CCHCR1 Gene

(1) University of Copenhagen DISEASES for CCHCR1 Gene

(1) Novoseek inferred disease relationships for CCHCR1 Gene

Disease -log(P) Hits PubMed IDs
psoriasis 68.4 16

Relevant External Links for CCHCR1

Genetic Association Database (GAD)
CCHCR1
Human Genome Epidemiology (HuGE) Navigator
CCHCR1
genes like me logo Genes that share disorders with CCHCR1: view

No data available for UniProtKB/Swiss-Prot 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 23
  2. 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 23
  3. 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 23
  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
  5. The tumor necrosis factor polymorphism TNF (-308) is associated with susceptibility to meningococcal sepsis, but not with lethality. (PMID: 19242354) Read R.C. … Wilson A.G. (Crit. Care Med. 2009) 3 49

Products for CCHCR1 Gene

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat
  • QIAGEN qRT-PCR Assays for microRNAs that regulate CCHCR1
    • QuantiTect SYBR Green Assays in human,mouse,rat
    • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
    • QuantiFast Probe-based Assays in human,mouse,rat
    • Predesigned siRNA for gene silencing in human,mouse,rat for CCHCR1
    • Block miRNA regulation of CCHCR1 using miScript Target Protectors
    • antibodies-online peptides for CCHCR1
    • antibodies-online antibodies for CCHCR1
    • antibodies-online kits for CCHCR1

    Sources for CCHCR1 Gene

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