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Aliases for COTL1 Gene

Aliases for COTL1 Gene

  • Coactosin Like F-Actin Binding Protein 1 2 3 5
  • CLP 3 4
  • Coactosin-Like F-Actin Binding Protein 1 2
  • Coactosin-Like 1 (Dictyostelium) 2
  • Coactosin-Like Protein 3
  • Coactosin-Like 1 3

External Ids for COTL1 Gene

Previous GeneCards Identifiers for COTL1 Gene

  • GC16M075449
  • GC16M085565
  • GC16M084338
  • GC16M084378
  • GC16M083156
  • GC16M070353

Summaries for COTL1 Gene

Entrez Gene Summary for COTL1 Gene

  • 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]

GeneCards Summary for COTL1 Gene

COTL1 (Coactosin Like F-Actin Binding Protein 1) is a Protein Coding gene. Among its related pathways are Innate Immune System. GO annotations related to this gene include enzyme binding and actin binding.

UniProtKB/Swiss-Prot for COTL1 Gene

  • Binds to F-actin in a calcium-independent manner. Has no direct effect on actin depolymerization. Acts as a chaperone for ALOX5 (5LO), influencing both its stability and activity in leukotrienes synthesis.

Gene Wiki entry for COTL1 Gene

Additional gene information for COTL1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COTL1 Gene

Genomics for COTL1 Gene

Regulatory Elements for COTL1 Gene

Enhancers for COTL1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16H084592 2 FANTOM5 Ensembl ENCODE dbSUPER 17.7 +16.1 16125 18.6 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF766 ZNF143 ZNF207 ENSG00000261243 KLHL36 ENSG00000260859 COTL1 TAF1C ZDHHC7 TLDC1 USP10 KIAA0513 ENSG00000261471
GH16H084750 1.8 FANTOM5 Ensembl ENCODE dbSUPER 15.1 -135.1 -135144 5.2 PKNOX1 RB1 ARNT BATF ZNF2 RAD21 YY1 ZNF143 ATF7 RUNX3 USP10 COTL1 KIAA0513 CRISPLD2 ZDHHC7 LOC105371378
GH16H084561 1.2 Ensembl ENCODE dbSUPER 22.5 +54.7 54703 4.2 EBF1 ZKSCAN1 ZNF664 POLR2A EED IKZF2 SMARCA5 ZNF687 NR2F1 ZBED1 COTL1 USP10 GC16P084565 TLDC1
GH16H084566 1.1 Ensembl ENCODE dbSUPER 20.9 +49.3 49272 5.4 ATF2 ZNF507 NFIC TRIM24 MLLT1 ZBTB33 SETDB1 SPI1 COTL1 GSE1 KLHL36 USP10 TLDC1 GC16P084565 ENSG00000261471
GH16H084722 1.5 Ensembl ENCODE dbSUPER 12.1 -107.6 -107574 5.7 ARNT ARID4B SIN3A YBX1 FEZF1 TCF12 ELK1 GATA2 ZNF143 ATF7 COTL1 KLHL36 USP10 HSDL1 KIAA0513 ZDHHC7 LOC105371378
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around COTL1 on UCSC Golden Path with GeneCards custom track

Promoters for COTL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000088815 596 2601 HDGF PKNOX1 ARNT ARID4B SIN3A ZNF143 FOS SP3 SP5 NFYC

Genomic Locations for COTL1 Gene

Genomic Locations for COTL1 Gene
chr16:84,565,594-84,618,096
(GRCh38/hg38)
Size:
52,503 bases
Orientation:
Minus strand
chr16:84,599,200-84,651,683
(GRCh37/hg19)

Genomic View for COTL1 Gene

Genes around COTL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COTL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COTL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COTL1 Gene

Proteins for COTL1 Gene

  • Protein details for COTL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14019-COTL1_HUMAN
    Recommended name:
    Coactosin-like protein
    Protein Accession:
    Q14019
    Secondary Accessions:
    • B2RDU3
    • D3DUL9
    • Q86XM5

    Protein attributes for COTL1 Gene

    Size:
    142 amino acids
    Molecular mass:
    15945 Da
    Quaternary structure:
    • Interacts with 5-lipoxygenase (ALOX5/5LO) in a calcium-independent manner. Binds to F-actin with a stoichiometry of 1:2.

    Three dimensional structures from OCA and Proteopedia for COTL1 Gene

neXtProt entry for COTL1 Gene

Post-translational modifications for COTL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for COTL1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for COTL1 (Coactosin-like Protein 1/CotL1)
  • Abcam antibodies for COTL1

No data available for DME Specific Peptides for COTL1 Gene

Domains & Families for COTL1 Gene

Gene Families for COTL1 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for COTL1 Gene

Suggested Antigen Peptide Sequences for COTL1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q14019

UniProtKB/Swiss-Prot:

COTL1_HUMAN :
  • Belongs to the actin-binding proteins ADF family. Coactosin subfamily.
Family:
  • Belongs to the actin-binding proteins ADF family. Coactosin subfamily.
genes like me logo Genes that share domains with COTL1: view

Function for COTL1 Gene

Molecular function for COTL1 Gene

GENATLAS Biochemistry:
rat peroxisomal carnitine octanoyl transferase-like 1
UniProtKB/Swiss-Prot Function:
Binds to F-actin in a calcium-independent manner. Has no direct effect on actin depolymerization. Acts as a chaperone for ALOX5 (5LO), influencing both its stability and activity in leukotrienes synthesis.

Phenotypes From GWAS Catalog for COTL1 Gene

Gene Ontology (GO) - Molecular Function for COTL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IDA 11583571
GO:0005515 protein binding IPI 11297527
GO:0019899 enzyme binding IEA,IPI 11297527
genes like me logo Genes that share ontologies with COTL1: view
genes like me logo Genes that share phenotypes with COTL1: view

Animal Models for COTL1 Gene

MGI Knock Outs for COTL1:

Animal Model Products

CRISPR Products

miRNA for COTL1 Gene

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for COTL1 Gene

Localization for COTL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COTL1 Gene

Cytoplasm. Cytoplasm, cytoskeleton. 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 COTL1 gene
Compartment Confidence
extracellular 5
cytoskeleton 4
nucleus 4
cytosol 3
plasma membrane 2

Gene Ontology (GO) - Cellular Components for COTL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005622 intracellular IEA --
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with COTL1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for COTL1 Gene

Pathways & Interactions for COTL1 Gene

genes like me logo Genes that share pathways with COTL1: view

Pathways by source for COTL1 Gene

3 Reactome pathways for COTL1 Gene

Gene Ontology (GO) - Biological Process for COTL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
GO:0043312 neutrophil degranulation TAS --
GO:0050832 defense response to fungus IEA --
genes like me logo Genes that share ontologies with COTL1: view

No data available for SIGNOR curated interactions for COTL1 Gene

Drugs & Compounds for COTL1 Gene

(1) Drugs for COTL1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
genes like me logo Genes that share compounds with COTL1: view

Transcripts for COTL1 Gene

Unigene Clusters for COTL1 Gene

Coactosin-like 1 (Dictyostelium):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for COTL1 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c · 3d · 3e ^ 4 ^ 5a · 5b
SP1: - - -
SP2: - - - - -
SP3: - -
SP4: - - -
SP5:

Relevant External Links for COTL1 Gene

GeneLoc Exon Structure for
COTL1
ECgene alternative splicing isoforms for
COTL1

Expression for COTL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for COTL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for COTL1 Gene

This gene is overexpressed in Whole Blood (x21.6).

Protein differential expression in normal tissues from HIPED for COTL1 Gene

This gene is overexpressed in Amniocyte (8.1) and Peripheral blood mononuclear cells (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for COTL1 Gene



Protein tissue co-expression partners for COTL1 Gene

NURSA nuclear receptor signaling pathways regulating expression of COTL1 Gene:

COTL1

SOURCE GeneReport for Unigene cluster for COTL1 Gene:

Hs.289092

mRNA Expression by UniProt/SwissProt for COTL1 Gene:

Q14019-COTL1_HUMAN
Tissue specificity: Widely expressed with highest levels in placenta, lung, kidney and peripheral blood leukocytes and lower levels in brain, liver and pancreas.

Evidence on tissue expression from TISSUES for COTL1 Gene

  • Nervous system(4.8)
  • Lung(4.6)
  • Blood(4.5)
  • Kidney(4.4)
  • Eye(3)
  • Pancreas(2.9)
  • Skin(2.9)
  • Liver(2.3)
  • Lymph node(2.3)
  • Intestine(2.2)
  • Spleen(2.2)
  • Gall bladder(2.1)
  • Bone marrow(2)
genes like me logo Genes that share expression patterns with COTL1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for COTL1 Gene

Orthologs for COTL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for COTL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COTL1 34
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia COTL1 33 34
  • 94.04 (n)
cow
(Bos Taurus)
Mammalia COTL1 33 34
  • 93.66 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia COTL1 34
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia COTL1 34
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cotl1 33
  • 89.67 (n)
mouse
(Mus musculus)
Mammalia Cotl1 33 16 34
  • 87.79 (n)
chicken
(Gallus gallus)
Aves COTL1 33 34
  • 80.05 (n)
lizard
(Anolis carolinensis)
Reptilia COTL1 34
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cotl1 33
  • 71.36 (n)
Str.2192 33
African clawed frog
(Xenopus laevis)
Amphibia cotl1-prov 33
zebrafish
(Danio rerio)
Actinopterygii cotl1 33 34
  • 71.36 (n)
wufb08h08 33
fruit fly
(Drosophila melanogaster)
Insecta CG6891 33 34
  • 54.5 (n)
CG6900 34
  • 38 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000889 33
  • 54.26 (n)
Species where no ortholog for COTL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • 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 squirt (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 COTL1 Gene

ENSEMBL:
Gene Tree for COTL1 (if available)
TreeFam:
Gene Tree for COTL1 (if available)

Paralogs for COTL1 Gene

Pseudogenes.org Pseudogenes for COTL1 Gene

genes like me logo Genes that share paralogs with COTL1: view

No data available for Paralogs for COTL1 Gene

Variants for COTL1 Gene

Sequence variations from dbSNP and Humsavar for COTL1 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs1000003468 -- 84,618,697(+) TCCTC(C/T)CTCCC upstream-variant-2KB
rs1000049611 -- 84,582,515(+) AATCA(A/C/T)AAAGC intron-variant
rs1000107960 -- 84,566,073(+) GCTCA(C/G)ACCTT utr-variant-3-prime
rs1000108055 -- 84,615,831(+) GGCAG(C/T)GCTCA intron-variant
rs1000177914 -- 84,602,991(+) CAGAG(A/G)GACGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for COTL1 Gene

Variant ID Type Subtype PubMed ID
nsv833311 CNV loss 17160897
nsv573464 CNV loss 21841781
nsv573425 CNV loss 21841781
nsv483044 CNV gain 15286789
nsv471109 CNV loss 18288195
nsv457605 CNV loss 19166990
nsv1911 CNV deletion 18451855
nsv151 CNV deletion 15895083
nsv1144775 CNV deletion 24896259
nsv1138474 CNV deletion 24896259
nsv1136221 CNV deletion 24896259
nsv1071341 CNV deletion 25765185
nsv1064308 CNV loss 25217958
nsv1055503 CNV gain 25217958
dgv550e214 CNV loss 21293372
dgv5262n54 CNV loss 21841781
dgv3058n100 CNV loss 25217958

Variation tolerance for COTL1 Gene

Residual Variation Intolerance Score: 27.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.54; 11.76% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for COTL1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
COTL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COTL1 Gene

Disorders for COTL1 Gene

Relevant External Links for COTL1

Genetic Association Database (GAD)
COTL1
Human Genome Epidemiology (HuGE) Navigator
COTL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
COTL1

No disorders were found for COTL1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for COTL1 Gene

Publications for COTL1 Gene

  1. Coactosin-like protein functions as a stabilizing chaperone for 5-lipoxygenase: role of tryptophan 102. (PMID: 19807693) Esser J … Rådmark O (The Biochemical journal 2009) 3 4 22 60
  2. Coactosin-like protein supports 5-lipoxygenase enzyme activity and up-regulates leukotriene A4 production. (PMID: 16924104) Rakonjac M … Rådmark O (Proceedings of the National Academy of Sciences of the United States of America 2006) 2 3 22 60
  3. Binding model of human coactosin-like protein with filament actin revealed by mutagenesis. (PMID: 17070122) Dai H … Shi Y (Biochimica et biophysica acta 2006) 3 4 22 60
  4. Crystal structure of human coactosin-like protein at 1.9 A resolution. (PMID: 15459340) Li X … Rao Z (Protein science : a publication of the Protein Society 2004) 3 4 22 60
  5. 5-Lipoxygenase interacts with coactosin-like protein. (PMID: 11297527) Provost P … Radmark O (The Journal of biological chemistry 2001) 3 4 22 60

Products for COTL1 Gene

Sources for COTL1 Gene

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