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Aliases for COBL Gene

Aliases for COBL Gene

  • Cordon-Bleu WH2 Repeat Protein 2 3
  • KIAA0633 4 6
  • Cordon-Bleu Homolog (Mouse) 2

External Ids for COBL Gene

Summaries for COBL Gene

GeneCards Summary for COBL Gene

COBL (Cordon-Bleu WH2 Repeat Protein) is a Protein Coding gene. GO annotations related to this gene include actin monomer binding. An important paralog of this gene is COBLL1.

UniProtKB/Swiss-Prot for COBL Gene

  • Plays an important role in the reorganization of the actin cytoskeleton. Regulates neuron morphogenesis and increases branching of axons and dendrites. Regulates dendrite branching in Purkinje cells (By similarity). Binds to and sequesters actin monomers (G actin). Nucleates actin polymerization by assembling three actin monomers in cross-filament orientation and thereby promotes growth of actin filaments at the barbed end. Can also mediate actin depolymerization at barbed ends and severing of actin filaments. Promotes formation of cell ruffles.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COBL Gene

Genomics for COBL Gene

Genomic Location for COBL Gene

Start:
51,016,212 bp from pter
End:
51,316,818 bp from pter
Size:
300,607 bases
Orientation:
Minus strand

Genomic View for COBL Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for COBL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COBL Gene

Regulatory Elements for COBL Gene

Proteins for COBL Gene

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

    Protein Symbol:
    O75128-COBL_HUMAN
    Recommended name:
    Protein cordon-bleu
    Protein Accession:
    O75128
    Secondary Accessions:
    • A4D257
    • A7E2B0
    • B7ZLW9
    • B9EGF8
    • Q2T9J3
    • Q504Y4
    • Q86XA7
    • Q8N304
    • Q8TCM1

    Protein attributes for COBL Gene

    Size:
    1261 amino acids
    Molecular mass:
    135617 Da
    Quaternary structure:
    • Identified in a complex composed of ACTA1, COBL, GSN AND TMSB4X. Interacts (via WH2 domains) with actin monomers. Interacts with both PACSIN1 and DBNL. Identified in a complex composed of COBL, PACSIN1 and WASL. Interacts with PACSIN1, PACSIN2 and PACSIN3 (By similarity).
    SequenceCaution:
    • Sequence=BAA31608.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for COBL Gene

    Alternative splice isoforms for COBL Gene

neXtProt entry for COBL Gene

Proteomics data for COBL Gene at MOPED

Post-translational modifications for COBL Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for COBL Gene

Domains for COBL Gene

Protein Domains for COBL Gene

UniProtKB/Swiss-Prot:

COBL_HUMAN
Domain:
  • Contains 3 WH2 domains.:
    • O75128
genes like me logo Genes that share domains with COBL: view

No data available for Gene Families for COBL Gene

Function for COBL Gene

Molecular function for COBL Gene

UniProtKB/Swiss-Prot Function: Plays an important role in the reorganization of the actin cytoskeleton. Regulates neuron morphogenesis and increases branching of axons and dendrites. Regulates dendrite branching in Purkinje cells (By similarity). Binds to and sequesters actin monomers (G actin). Nucleates actin polymerization by assembling three actin monomers in cross-filament orientation and thereby promotes growth of actin filaments at the barbed end. Can also mediate actin depolymerization at barbed ends and severing of actin filaments. Promotes formation of cell ruffles.

Gene Ontology (GO) - Molecular Function for COBL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding --
GO:0003785 actin monomer binding ISS --
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with COBL: view

Phenotypes for COBL Gene

MGI mutant phenotypes for COBL:
inferred from 1 alleles
GenomeRNAi human phenotypes for COBL:
genes like me logo Genes that share phenotypes with COBL: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for COBL Gene

Localization for COBL Gene

Subcellular locations from UniProtKB/Swiss-Prot for COBL Gene

Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton. Cell projection, ruffle. Cytoplasm. Note=Recruited to the cell membrane via interaction with PACSIN1. Colocalizes with the actin cytoskeleton. Detected throughout the neuron cell body, as well as in axons and dendrites (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for COBL Gene COMPARTMENTS Subcellular localization image for COBL gene
Compartment Confidence
plasma membrane 5
mitochondrion 3
nucleus 3
cytoskeleton 2

Gene Ontology (GO) - Cellular Components for COBL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001726 ruffle ISS --
GO:0005884 colocalizes_with actin filament ISS --
GO:0005886 plasma membrane ISS --
GO:0005938 cell cortex ISS --
GO:0016020 colocalizes_with membrane ISS --
genes like me logo Genes that share ontologies with COBL: view

Pathways for COBL Gene

SuperPathways for COBL Gene

No Data Available

Interacting Proteins for COBL Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000265136%0d%0a9606.ENSP00000264993%0d%0a9606.ENSP00000244458%0d%0a
Selected Interacting proteins: ENSP00000265136 O75128-COBL_HUMAN for COBL Gene via STRING I2D

Gene Ontology (GO) - Biological Process for COBL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000578 embryonic axis specification ISS --
GO:0001757 somite specification ISS --
GO:0001843 neural tube closure ISS --
GO:0001889 liver development ISS --
GO:0030041 actin filament polymerization ISS --
genes like me logo Genes that share ontologies with COBL: view

No data available for Pathways by source for COBL Gene

Transcripts for COBL Gene

Unigene Clusters for COBL Gene

Cordon-bleu WH2 repeat protein:
Representative Sequences:

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

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b · 15c
SP1: - -
SP2: - - - -
SP3: - - - -
SP4: - -
SP5:

Relevant External Links for COBL Gene

GeneLoc Exon Structure for
COBL
ECgene alternative splicing isoforms for
COBL

Expression for COBL Gene

mRNA expression in normal human tissues for COBL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for COBL Gene

SOURCE GeneReport for Unigene cluster for COBL Gene Hs.99141

genes like me logo Genes that share expressions with COBL: view

Orthologs for COBL Gene

This gene was present in the common ancestor of chordates.

Orthologs for COBL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COBL 36
  • 99.08 (n)
  • 98.51 (a)
COBL 37
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia COBL 36
  • 71.97 (n)
  • 64.07 (a)
COBL 37
  • 75 (a)
OneToOne
dog
(Canis familiaris)
Mammalia COBL 36
  • 71.59 (n)
  • 66.47 (a)
COBL 37
  • 56 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cobl 36
  • 74.66 (n)
  • 68.49 (a)
Cobl 16
Cobl 37
  • 62 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia COBL 37
  • 47 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia COBL 37
  • 42 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cobl 36
  • 72.51 (n)
  • 65.44 (a)
chicken
(Gallus gallus)
Aves COBL 36
  • 59.07 (n)
  • 51.95 (a)
COBL 37
  • 38 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COBL 37
  • 32 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC52972 36
tropical clawed frog
(Silurana tropicalis)
Amphibia cobl 36
  • 57.1 (n)
  • 50 (a)
zebrafish
(Danio rerio)
Actinopterygii cobl 37
  • 28 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6479 37
  • 27 (a)
OneToMany
Species with no ortholog for COBL:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 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 COBL Gene

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

Paralogs for COBL Gene

Paralogs for COBL Gene

Selected SIMAP similar genes for COBL Gene using alignment to 6 proteins:

Pseudogenes.org Pseudogenes for COBL Gene

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

Variants for COBL Gene

Sequence variations from dbSNP and Humsavar for COBL Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs10273 -- 51,016,607(-) GTTCA(G/T)CCTTG utr-variant-3-prime
rs315096 -- 51,291,742(+) ggcaa(C/G)aaatc intron-variant
rs315097 -- 51,291,998(+) ctcta(C/T)tgaaa intron-variant
rs315098 -- 51,293,949(+) ATAAG(C/T)GACAG intron-variant
rs315099 -- 51,294,355(+) aAggc(A/G)gggcg intron-variant

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

Variant ID Type Subtype PubMed ID
nsv830999 CNV Gain 17160897
esv2734386 CNV Deletion 23290073
esv2734387 CNV Deletion 23290073
esv2734388 CNV Deletion 23290073
esv2734389 CNV Deletion 23290073
nsv516294 CNV Gain 19592680
nsv5739 CNV Insertion 18451855
esv1975196 CNV Deletion 18987734
esv2734390 CNV Deletion 23290073
nsv5740 CNV Insertion 18451855
nsv831000 CNV Gain 17160897
esv2734391 CNV Deletion 23290073
dgv1132e201 CNV Deletion 23290073
nsv366189 CNV Loss 16902084

Relevant External Links for COBL Gene

HapMap Linkage Disequilibrium report
COBL

Disorders for COBL Gene

Relevant External Links for COBL

Genetic Association Database (GAD)
COBL
Human Genome Epidemiology (HuGE) Navigator
COBL
genes like me logo Genes that share disorders with COBL: view

No data available for UniProtKB/Swiss-Prot for COBL Gene

Publications for COBL Gene

  1. Cordon-Bleu uses WH2 domains as multifunctional dynamizers of actin filament assembly. (PMID: 21816349) Husson C. … Carlier M.F. (Mol. Cell 2011) 3 4
  2. Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9734811) Ishikawa K. … Ohara O. (DNA Res. 1998) 3 4
  3. A common variant in DRD3 receptor is associated with autism spectrum disorder. (PMID: 19058789) de Krom M. … van Ree J.M. (Biol. Psychiatry 2009) 3 49
  4. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G. … Wijmenga C. (Gut 2009) 3 49
  5. Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. (PMID: 19430480) Barrett J.C. … Rich S.S. (Nat. Genet. 2009) 3 49

Products for COBL Gene

Sources for COBL Gene

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