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

Gene

• Entrez ID: 54535
• Gene name: Coiled-coil alpha-helical rod protein 1
• Gene symbol: CCHCR1
• Synonyms (NCBI Gene): C6orf18, HCR, SBP, pg8
• Chromosome: 6
• Chromosome location: 6p21.33
• Summary: 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-te

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs746647	A>G	Drug-response	Intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT042719	hsa-miR-346	CLASH	23622248
MIRT040226	hsa-miR-615-3p	CLASH	23622248
MIRT870810	hsa-miR-1207-3p	CLIP-seq
MIRT870811	hsa-miR-1303	CLIP-seq
MIRT870812	hsa-miR-1915	CLIP-seq
MIRT870813	hsa-miR-2110	CLIP-seq
MIRT870814	hsa-miR-2278	CLIP-seq
MIRT870815	hsa-miR-2392	CLIP-seq
MIRT870816	hsa-miR-3202	CLIP-seq
MIRT870817	hsa-miR-361-3p	CLIP-seq
MIRT870818	hsa-miR-4271	CLIP-seq
MIRT870819	hsa-miR-4446-3p	CLIP-seq
MIRT870820	hsa-miR-4468	CLIP-seq
MIRT870821	hsa-miR-4494	CLIP-seq
MIRT870822	hsa-miR-4685-5p	CLIP-seq
MIRT870823	hsa-miR-4725-3p	CLIP-seq
MIRT870824	hsa-miR-4747-5p	CLIP-seq
MIRT870825	hsa-miR-4774-5p	CLIP-seq
MIRT870826	hsa-miR-499a-5p	CLIP-seq
MIRT870827	hsa-miR-512-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25416956, 25910212, 27107012, 29892012, 30886144, 32296183, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005814	Component	Centriole	IBA
GO:0005814	Component	Centriole	IDA	23644468
GO:0005829	Component	Cytosol	IDA
GO:0006611	Process	Protein export from nucleus	IBA
GO:0030154	Process	Cell differentiation	IEA
GO:0042802	Function	Identical protein binding	IPI	25416956, 32296183

Other IDs

• MIM: 605310
• HGNC: 13930
• e!Ensembl: ENSG00000204536

Protein

• UniProt ID: Q8TD31
• Protein name: Coiled-coil alpha-helical rod protein 1 (Alpha-helical coiled-coil rod protein) (Putative gene 8 protein) (Pg8)
• Protein function: May be a regulator of keratinocyte proliferation or differentiation.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07111	HCR	27 → 773	Alpha helical coiled-coil rod protein (HCR)	Coiled-coil

• Tissue specificity: 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.
• Sequence:

  MFPPSGSTGLIPPSHFQARPLSTLPRMAPTWLSDIPLVQPPGHQDVSERRLDTQRPQVTM
  WERDVSSDRQEPGRRGRSWGLEGSQALSQQAEVIVRQLQELRRLEEEVRLLRETSLQQKM
  RLEAQAMELEALARAEKAGRAEAEGLRAALAGAEVVRKNLEEGSQRELEEVQRLHQEQLS
  SLTQAHEEALSSLTSKAEGLEKSLSSLETRRAGEAKELAEAQREAELLRKQLSKTQEDLE
  AQVTLVENLRKYVGEQVPSEVHSQTWELERQKLLETMQHLQEDRDSLHATAELLQVRVQS
  LTHILALQEEELTRKVQPSDSLEPEFTRKCQSLLNRWREKVFALMVQLKAQELEHSDSVK
  QLKGQVASLQEKVTSQSQEQAILQRSLQDKAAEVEVERMGAKGLQLELSRAQEARRRWQQ
  QTASAEEQLRLVVNAVSSSQIWLETTMAKVEGAAAQLPSLNNRLSYAVRKVHTIRGLIAR
  KLALAQLRQESCPLPPPVTDVSLELQQLREERNRLDAELQLSARLIQQEVGRAREQGEAE
  RQQLSKVAQQLEQELQQTQESLASLGLQLEVARQGQQESTEEAASLRQELTQQQELYGQA
  LQEKVAEVETRLREQLSDTERRLNEARREHAKAVVSLRQIQRRAAQEKERSQELRRLQEE
  ARKEEGQRLARRLQELERDKNLMLATLQQEGLLSRYKQQRLLTVLPSLLDKKKSVVSSPR
  PPECSASAPVAAAVPTRESIKGSLSVLLDDLQDLSEAISKEEAVCQGDNLDRCSSSNPQM
  SS

• Sequence length: 782

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AMPHETAMINE OR RELATED ACTING SYMPATHOMIMETIC ABUSE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMPHETAMINE-RELATED DISORDERS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL SQUAMOUS CELL CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEAD AND NECK SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE MYELOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYELOPROLIFERATIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-HODGKINS LYMPHOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN ENDOMETRIOID CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PREECLAMPSIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Anodontia	Associate	22218424	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Associate	22985493	★☆☆☆☆ Found in Text Mining only
Azoospermia Nonobstructive	Associate	30502936	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Associate	19551138	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Associate	27614072	★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Associate	31040073	★☆☆☆☆ Found in Text Mining only
COVID 19	Associate	39344392	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Associate	39344392	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Associate	23830516	★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia	Associate	3470797	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	14675183, 19551138, 32276964	★☆☆☆☆ Found in Text Mining only
Neoplasms Squamous Cell	Stimulate	19551138	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Associate	3470797	★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Associate	3470797	★☆☆☆☆ Found in Text Mining only
Obesity	Associate	39344392	★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Associate	3470797	★☆☆☆☆ Found in Text Mining only
Photosensitivity Disorders	Associate	14675183	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Associate	22985493	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Associate	12648227, 14675183, 17340018, 19551138, 22985493, 26613086	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Disease Chronic Obstructive	Associate	33909500	★☆☆☆☆ Found in Text Mining only
Skin Diseases	Associate	14675183	★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Stimulate	19551138	★☆☆☆☆ Found in Text Mining only
Skin Ulcer	Associate	14675183	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Associate	32276964	★☆☆☆☆ Found in Text Mining only
Takayasu Arteritis	Associate	23830516	★☆☆☆☆ Found in Text Mining only
Thyroid cancer medullary	Associate	3470797	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Inhibit	22218424	★☆☆☆☆ Found in Text Mining only