COTL1 coactosin like F-actin binding protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: COTL1provided by HGNC
Official Full Name: coactosin like F-actin binding protein 1provided by HGNC
Primary source: HGNC:HGNC:18304
See related: Ensembl:ENSG00000103187 MIM:606748; AllianceGenome:HGNC:18304
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: CLP
Summary: This gene encodes one of the numerous actin-binding proteins which regulate the actin cytoskeleton. This protein binds F-actin, and also interacts with 5-lipoxygenase, which is the first committed enzyme in leukotriene biosynthesis. Although this gene has been reported to map to chromosome 17 in the Smith-Magenis syndrome region, the best alignments for this gene are to chromosome 16. The Smith-Magenis syndrome region is the site of two related pseudogenes. [provided by RefSeq, Jul 2008]
Expression: Broad expression in lymph node (RPKM 178.3), appendix (RPKM 165.6) and 20 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16q24.1

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (84565596..84618078, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (90631897..90684371, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (84599202..84651684, complement)

Chromosome 16 - NC_000016.10 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?

Study uncovers a novel tumor-suppressor role for CLP/Cotl1 and identify the downstream effectors interleukin 24 (IL-24)/PERP and IL-24/MAPK/ERK/TGF-beta.
Title: Coactosin-like protein CLP/Cotl1 suppresses breast cancer growth through activation of IL-24/PERP and inhibition of non-canonical TGFβ signaling.
our combined results elucidated genetic and epigenetic silencing of miR-506-3p enhances COTL1 oncogene expression to foster NSCLC progression.
Title: Genetic and epigenetic silencing of mircoRNA-506-3p enhances COTL1 oncogene expression to foster non-small lung cancer progression.
The roles of CLP and FLAP in in cellular leukotriene biosynthesis, were studied.
Title: Roles of coactosin-like protein (CLP) and 5-lipoxygenase-activating protein (FLAP) in cellular leukotriene biosynthesis.
COTL1 regulates lamellipodia dynamics in part by protecting F-actin from cofilin-mediated disassembly.
Title: Coactosin-like 1 antagonizes cofilin to promote lamellipodial protrusion at the immune synapse.
PAI-RBP1 and C1orf142 expression levels are higher in 95D (high metastatic potential) than in 95C (low metastatic potential) non-small lung cancer cells, whereas COTL1 expression level is lower in 95D when compared to 95C cells.
Title: Differential expression of PAI-RBP1, C1orf142, and COTL1 in non-small cell lung cancer cell lines with different tumor metastatic potential.
Up-regulated COTL-1 expression in small cell lung cancer was validated by Western blot analysis, immunohistochemistry, and qRT-qPCR.
Title: Proteomic analysis of human small cell lung cancer tissues: up-regulation of coactosin-like protein-1.
Results of the present study support a role for CLP as a chaperoning scaffold factor, influencing both the stability and the activity of 5-LO.
Title: Coactosin-like protein functions as a stabilizing chaperone for 5-lipoxygenase: role of tryptophan 102.
We found that coactosin-like1 (COTL1) were highly expressed in rheumatoid arthritis patients compared with healthy controls
Title: Polymorphisms of COTL1 gene identified by proteomic approach and their association with autoimmune disorders.
Observational study of gene-disease association. (HuGE Navigator)
Title: Polymorphisms of COTL1 gene identified by proteomic approach and their association with autoimmune disorders.
Coactosin-like protein (CLP) up-regulates Ca(2+)-induced 5-lipoxygenase (5LO) activity, and increases the amount of Leukotriene A(4) formed by 5LO.
Title: Coactosin-like protein supports 5-lipoxygenase enzyme activity and up-regulates leukotriene A4 production.

Submit: New GeneRIF Correction See all GeneRIFs (16)

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

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

GDB:434012 (e-PCR)
- UniSTS:157204

RH119045 (e-PCR)
- UniSTS:138273

SHGC-60788 (e-PCR)
- UniSTS:21807

D16S392 (e-PCR)
- UniSTS:148540

D15S1477 (e-PCR)
- UniSTS:474482

RH80030 (e-PCR)
- UniSTS:87680

D16S2644 (e-PCR)
- UniSTS:152251

RH48210 (e-PCR)
- UniSTS:4807

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables actin binding	IDA Inferred from Direct Assay more info	PubMed
enables actin filament binding	IBA Inferred from Biological aspect of Ancestor more info
enables enzyme 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 defense response to fungus	IEA Inferred from Electronic Annotation more info
involved_in regulation of actin filament polymerization	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
colocalizes_with actin filament	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cortical actin cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in ficolin-1-rich granule lumen	TAS Traceable Author Statement more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in secretory granule lumen	TAS Traceable Author Statement more info
is_active_in site of polarized growth	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: coactosin-like protein

Names: coactosin-like 1; epididymis secretory sperm binding protein

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.