This gene encodes a protein with five coiled-coil alpha-helical rod domains that is thought to act as a regulator of mRNA metabolism through its interaction with mRNA-decapping protein 4. It localizes to P-bodies, the site of mRNA metabolism, with an N-terminus that is required for this subcellular localization, suggesting it is a P-body component. Naturally occurring mutations... See more...

Aliases for CCHCR1 Gene

Aliases for CCHCR1 Gene

  • Coiled-Coil Alpha-Helical Rod Protein 1 2 3 4 5
  • HCR 2 3 4
  • Alpha-Helical Coiled-Coil Rod Protein 3 4
  • Putative Gene 8 Protein 3 4
  • C6orf18 3 4
  • Pg8 3 4
  • HCR (A-Helix Coiled-Coil Rod Homologue) 3
  • Chromosome 6 Open Reading Frame 18 2
  • StAR-Binding Protein 3
  • CCHCR1 5
  • SBP 3

External Ids for CCHCR1 Gene

Previous HGNC Symbols for CCHCR1 Gene

  • C6orf18

Previous GeneCards Identifiers for CCHCR1 Gene

  • GC06M031219
  • GC06M031110
  • GC06M030912

Summaries for CCHCR1 Gene

Entrez Gene Summary for CCHCR1 Gene

  • This gene encodes a protein with five coiled-coil alpha-helical rod domains that is thought to act as a regulator of mRNA metabolism through its interaction with mRNA-decapping protein 4. It localizes to P-bodies, the site of mRNA metabolism, with an N-terminus that is required for this subcellular localization, suggesting it is a P-body component. Naturally occurring mutations in this gene are associated with psoriasis. [provided by RefSeq, May 2017]

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 Psoriasis 1. An important paralog of this gene is CCDC57.

UniProtKB/Swiss-Prot Summary for CCHCR1 Gene

Gene Wiki entry for CCHCR1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CCHCR1 Gene

Genomics for CCHCR1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CCHCR1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CCHCR1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CCHCR1

Top Transcription factor binding sites by QIAGEN in the CCHCR1 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • STAT3

Genomic Locations for CCHCR1 Gene

Genomic Locations for CCHCR1 Gene
chr6:31,142,439-31,158,238
(GRCh38/hg38)
Size:
15,800 bases
Orientation:
Minus strand
chr6:31,110,216-31,126,015
(GRCh37/hg19)
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=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAA81890.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAA82158.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=BAA91236.1; Type=Erroneous initiation; Note=Truncated N-terminus.; 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 Lys119 and Lys402
  • 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

Gene Families for CCHCR1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CCHCR1 Gene

InterPro:
Blocks:
  • Alpha helical coiled-coil rod
ProtoNet:

Suggested Antigen Peptide Sequences for CCHCR1 Gene

GenScript: Design optimal peptide antigens:
  • Coiled-coil alpha-helical rod protein 1 (A2ABD9_HUMAN)
  • Coiled-coil alpha-helical rod protein 1 (A2ABG8_HUMAN)
  • cDNA FLJ54473, highly similar to Coiled-coil alpha-helical rod protein 1 (B4DIA2_HUMAN)
  • Putative gene 8 protein (CCHCR_HUMAN)
  • Coiled-coil alpha-helical rod protein 1 (D2IYK9_HUMAN)
genes like me logo Genes that share domains with CCHCR1: view

No data available for Graphical View of Domain Structure 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.

Phenotypes From GWAS Catalog for CCHCR1 Gene

Gene Ontology (GO) - Molecular Function for CCHCR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 29892012
genes like me logo Genes that share ontologies with CCHCR1: view
genes like me logo Genes that share phenotypes with CCHCR1: view

Animal Model Products

CRISPR Products

miRNA for CCHCR1 Gene

miRTarBase miRNAs that target CCHCR1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCHCR1

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CCHCR1 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 4
extracellular 2
plasma membrane 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CCHCR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005814 centriole IBA,IDA 23644468
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with CCHCR1: view

Pathways & Interactions for CCHCR1 Gene

PathCards logo

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 IBA 21873635
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 231

(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

mRNA/cDNA for CCHCR1 Gene

3 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
32 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCHCR1

Clone 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

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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Evidence on tissue expression from TISSUES for CCHCR1 Gene

  • Blood(4.4)
  • Intestine(4.3)
  • Nervous system(3.7)
genes like me logo Genes that share expression patterns with CCHCR1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CCHCR1 Gene

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 30 31
  • 99.19 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CCHCR1 30 31
  • 88.02 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CCHCR1 30 31
  • 86.64 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Cchcr1 30 17 31
  • 80.46 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cchcr1 30
  • 80.3 (n)
Oppossum
(Monodelphis domestica)
Mammalia CCHCR1 31
  • 60 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CCHCR1 31
  • 49 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CCHCR1 31
  • 36 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cchcr1 30
  • 44.28 (n)
Zebrafish
(Danio rerio)
Actinopterygii CCHCR1 (1 of 2) 31
  • 32 (a)
OneToMany
CCHCR1 (2 of 2) 31
  • 31 (a)
OneToMany
Species where no ortholog for CCHCR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for CCHCR1: view image

Paralogs for CCHCR1 Gene

Paralogs for CCHCR1 Gene

(3) SIMAP similar genes for CCHCR1 Gene using alignment to 26 proteins:

  • CCHCR_HUMAN
  • A2ABH0_HUMAN
  • A2ABH1_HUMAN
  • A2ABH3_HUMAN
  • A2ABH4_HUMAN
  • A2ABH5_HUMAN
  • B0S7V6_HUMAN
  • B0V092_HUMAN
  • D2IYK9_HUMAN
  • D6R9W9_HUMAN
  • D6RA02_HUMAN
  • D6RAE7_HUMAN
  • D6RB88_HUMAN
  • D6RBG1_HUMAN
  • D6RD84_HUMAN
  • D6RDI7_HUMAN
  • D6RE89_HUMAN
  • E7EPK4_HUMAN
  • E7EQC5_HUMAN
  • E7EQE8_HUMAN
  • E9PGB6_HUMAN
  • E9PHV1_HUMAN
  • M1T2K8_HUMAN
  • M1TIV4_HUMAN
  • Q2TB68_HUMAN
  • Q5STF0_HUMAN
genes like me logo Genes that share paralogs with CCHCR1: view

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CCHCR1 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
768073 Benign: not provided 31,154,630(-) G/A MISSENSE_VARIANT
rs746647 Drug Response: nevirapine response - Toxicity/ADR 31,146,405(-) A/G INTRON_VARIANT
rs11540822 - p.Leu179Gln
rs130065 - p.Arg103Trp
rs130066 - p.Ser164Arg

Additional dbSNP identifiers (rs#s) for CCHCR1 Gene

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)

Additional Variant Information 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

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

Disorder Aliases PubMed IDs
psoriasis
psoriasis 1
  • psoriasis 1, susceptibility to
psoriasis 6
  • psoriasis 6, susceptibility to
psoriasis 10
  • psoriasis 10, susceptibility to
psoriasis 3
  • psoriasis 3, susceptibility to
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CCHCR1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 (Human molecular genetics 2000) 2 3 4 23
  2. Coding haplotype analysis supports HCR as the putative susceptibility gene for psoriasis at the MHC PSORS1 locus. (PMID: 11875053) Asumalahti K … Psoriasis Consortium (Human molecular genetics 2002) 3 4 23
  3. The HCR gene on 6p21 is unlikely to be a psoriasis susceptibility gene. (PMID: 11348465) O'Brien KP … Ståhle-Bäckdahl M (The Journal of investigative dermatology 2001) 3 4 23
  4. Association analysis using refined microsatellite markers localizes a susceptibility locus for psoriasis vulgaris within a 111 kb segment telomeric to the HLA-C gene. (PMID: 10545595) Oka A … Inoko H (Human molecular genetics 1999) 2 3 4
  5. Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study. (PMID: 21743467) Kote-Jarai Z … PRACTICAL Consortium (Nature genetics 2011) 3 41

Products for CCHCR1 Gene

Sources for CCHCR1 Gene