COIL coilin [Homo sapiens (human)] - Gene

Summary

Official Symbol: COILprovided by HGNC
Official Full Name: coilinprovided by HGNC
Primary source: HGNC:HGNC:2184
See related: Ensembl:ENSG00000121058 MIM:600272; AllianceGenome:HGNC:2184
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CLN80; p80-coilin
Summary: The protein encoded by this gene is an integral component of Cajal bodies (also called coiled bodies). Cajal bodies are nuclear suborganelles of varying number and composition that are involved in the post-transcriptional modification of small nuclear and small nucleolar RNAs. The N-terminus of the coilin protein directs its self-oligomerization while the C-terminus influences the number of nuclear bodies assembled per cell. Differential methylation and phosphorylation of coilin likely influences its localization among nuclear bodies and the composition and assembly of Cajal bodies. This gene has pseudogenes on chromosome 4 and chromosome 14. [provided by RefSeq, Jul 2008]
Expression: Broad expression in testis (RPKM 65.0), thyroid (RPKM 8.3) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q22

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (56938199..56961050, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (57815838..57838690, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (55015560..55038411, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The Cajal body protein p80-coilin forms a complex with the adenovirus L4-22K protein and facilitates the nuclear export of adenovirus mRNA.
Title: The Cajal body protein p80-coilin forms a complex with the adenovirus L4-22K protein and facilitates the nuclear export of adenovirus mRNA.
Coilin enhances phosphorylation and stability of DGCR8 and promotes miRNA biogenesis.
Title: Coilin enhances phosphorylation and stability of DGCR8 and promotes miRNA biogenesis.
The Impact of Coilin Nonsynonymous SNP Variants E121K and V145I on Cell Growth and Cajal Body Formation: The First Characterization.
Title: The Impact of Coilin Nonsynonymous SNP Variants E121K and V145I on Cell Growth and Cajal Body Formation: The First Characterization.
The existence of chromatolysis and eccentric nuclei in SMA motor neurons correlates with Cajal body disruption and nucleolar relocalization of coil in, a Cajal body marker.
Title: Reorganization of Cajal bodies and nucleolar targeting of coilin in motor neurons of type I spinal muscular atrophy.
VRK1 is a novel regulator of CBs dynamics and stability in cell cycle by protecting coilin from ubiquitination and degradation in the proteasome, and propose a model of CB dynamics.
Title: VRK1 regulates Cajal body dynamics and protects coilin from proteasomal degradation in cell cycle.
Data indicate that annexin A2 overexpression in microsatellite instability (MIN) cells induces disassembly and colocalization of coilin with centromeres.
Title: Nuclear accumulation of annexin A2 contributes to chromosomal instability by coilin-mediated centromere damage.
Authors summarize what has been learned in the past 25 years about coilin's structure, post-transcriptional modifications, and interactions with RNA and proteins. [Review]
Title: Coilin: The first 25 years.
The study shows that coilin-KO human cells that lack Cajal bodies are phenotypically normal with respect to telomere homeostasis.
Title: Human cells lacking coilin and Cajal bodies are proficient in telomerase assembly, trafficking and telomere maintenance.
Coilin couples snRNA and snoRNA biogenesis, making cajal bodies the cellular hub of small ncRNA metabolism.
Title: The coilin interactome identifies hundreds of small noncoding RNAs that traffic through Cajal bodies.
The interaction of SMN with the spliceosomal SmD1 (also known as SNRPD1), severely decreases SMN-coilin interaction and prevents Cajal body assembly.
Title: The SMN Tudor SIM-like domain is key to SmD1 and coilin interactions and to Cajal body biogenesis.

Submit: New GeneRIF Correction See all GeneRIFs (33)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Many sequence variants affecting diversity of adult human height. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D17S1672 (e-PCR)
- UniSTS:61502

GDB:511422 (e-PCR)
- UniSTS:157510

RH16172 (e-PCR)
- UniSTS:13387

RH17979 (e-PCR)
- UniSTS:26776

SGC30276 (e-PCR)
- UniSTS:710

SHGC-132087 (e-PCR)
- UniSTS:183027

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables U1 snRNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables U2 snRNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in spliceosomal snRNP assembly	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in Cajal body	IBA Inferred from Biological aspect of Ancestor more info
located_in Cajal body	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in fibrillar center	IDA Inferred from Direct Assay more info
located_in membrane	HDA more info	PubMed
located_in nuclear body	IDA Inferred from Direct Assay more info
located_in nucleolus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: coilin

Names: coilin p80; p80

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.