Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	54535
Gene name Gene Name - the full gene name approved by the HGNC.	Coiled-coil alpha-helical rod protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CCHCR1
Synonyms (NCBI Gene) Gene synonyms aliases	C6orf18, HCR, SBP, pg8
Chromosome Chromosome number	6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	6p21.33
Summary Summary of gene provided in NCBI Entrez 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-te

Show/Hide all(1)

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

Show/Hide all(20)

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

Show/Hide all(9)

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

MIM	HGNC	e!Ensembl
605310	13930	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

Interactions

View interactions

Show/Hide Unknown Diseases (6)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Diabetes	Type 2 diabetes	N/A	N/A	GWAS
Multiple myeloma	Multiple myeloma	N/A	N/A	GWAS
Prostate cancer	Prostate cancer	N/A	N/A	GWAS
Psoriasis	Psoriasis	N/A	N/A	GWAS
Takayasu Arteritis	Takayasu arteritis	N/A	N/A	GWAS
Ulcerative colitis	Ulcerative colitis	N/A	N/A	GWAS

Show/Hide Text Mining Associations (27)

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

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