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Aliases for COBLL1 Gene

Aliases for COBLL1 Gene

  • Cordon-Bleu WH2 Repeat Protein Like 1 2 3 5
  • Cordon-Bleu WH2 Repeat Protein-Like 1 2 3
  • COBL-Like 1 2 3
  • KIAA0977 4
  • COBLR1 3

External Ids for COBLL1 Gene

Previous GeneCards Identifiers for COBLL1 Gene

  • GC02M165743
  • GC02M165366
  • GC02M165249
  • GC02M165510
  • GC02M157423

Summaries for COBLL1 Gene

GeneCards Summary for COBLL1 Gene

COBLL1 (Cordon-Bleu WH2 Repeat Protein Like 1) is a Protein Coding gene. Diseases associated with COBLL1 include X-Linked Nonsyndromic Deafness. GO annotations related to this gene include actin binding. An important paralog of this gene is COBL.

Gene Wiki entry for COBLL1 Gene

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COBLL1 Gene

Genomics for COBLL1 Gene

Regulatory Elements for COBLL1 Gene

Enhancers for COBLL1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around COBLL1 on UCSC Golden Path with GeneCards custom track

Genomic Location for COBLL1 Gene

164,653,624 bp from pter
164,843,679 bp from pter
190,056 bases
Minus strand

Genomic View for COBLL1 Gene

Genes around COBLL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COBLL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COBLL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COBLL1 Gene

Proteins for COBLL1 Gene

  • Protein details for COBLL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Cordon-bleu protein-like 1
    Protein Accession:
    Secondary Accessions:
    • A6NMZ3
    • Q6IQ33
    • Q7Z3I6
    • Q9BRH4
    • Q9UG88
    • Q9Y2I3

    Protein attributes for COBLL1 Gene

    1204 amino acids
    Molecular mass:
    131787 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAA76821.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAB43215.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for COBLL1 Gene

    Alternative splice isoforms for COBLL1 Gene


neXtProt entry for COBLL1 Gene

Proteomics data for COBLL1 Gene at MOPED

Post-translational modifications for COBLL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for COBLL1 Gene

Domains & Families for COBLL1 Gene

Protein Domains for COBLL1 Gene

Suggested Antigen Peptide Sequences for COBLL1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 WH2 domain.
  • Contains 1 WH2 domain.
genes like me logo Genes that share domains with COBLL1: view

No data available for Gene Families for COBLL1 Gene

Function for COBLL1 Gene

Phenotypes for COBLL1 Gene

genes like me logo Genes that share phenotypes with COBLL1: view

Animal Model Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for COBLL1 Gene

Localization for COBLL1 Gene

Subcellular locations from

Jensen Localization Image for COBLL1 Gene COMPARTMENTS Subcellular localization image for COBLL1 gene
Compartment Confidence
extracellular 5
nucleus 4
cytosol 3
plasma membrane 2

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for COBLL1 Gene

Pathways & Interactions for COBLL1 Gene

SuperPathways for COBLL1 Gene

No Data Available

Interacting Proteins for COBLL1 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
Selected Interacting proteins: ENSP00000341360 Q53SF7-COBL1_HUMAN for COBLL1 Gene via STRING I2D

Gene Ontology (GO) - Biological Process for COBLL1 Gene


No data available for Pathways by source and SIGNOR curated interactions for COBLL1 Gene

Drugs & Compounds for COBLL1 Gene

No Compound Related Data Available

Transcripts for COBLL1 Gene

Unigene Clusters for COBLL1 Gene

Cordon-bleu WH2 repeat protein-like 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for COBLL1 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b · 14c ^ 15 ^ 16a · 16b · 16c ^ 17 ^
SP1: - - - - - - - -
SP2: - - - - -
SP3: - - - - - - - - -
SP4: - - -
SP5: -
SP6: - -
SP7: -
SP8: - -

ExUns: 18 ^ 19a · 19b

Relevant External Links for COBLL1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for COBLL1 Gene

mRNA expression in normal human tissues for COBLL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for COBLL1 Gene

This gene is overexpressed in Adrenal Gland (x4.7).

Protein differential expression in normal tissues from HIPED for COBLL1 Gene

This gene is overexpressed in Heart (31.2), Cerebrospinal fluid (7.4), and Placenta (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for COBLL1 Gene

SOURCE GeneReport for Unigene cluster for COBLL1 Gene Hs.470457

genes like me logo Genes that share expression patterns with COBLL1: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for COBLL1 Gene

Orthologs for COBLL1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for COBLL1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia COBLL1 35
  • 83.66 (n)
  • 75.48 (a)
  • 81 (a)
(Canis familiaris)
Mammalia COBLL1 35
  • 83.91 (n)
  • 77.37 (a)
  • 75 (a)
(Mus musculus)
Mammalia Cobll1 35
  • 74.36 (n)
  • 66.76 (a)
Cobll1 16
Cobll1 36
  • 62 (a)
(Pan troglodytes)
Mammalia COBLL1 35
  • 99.49 (n)
  • 99.11 (a)
  • 99 (a)
(Rattus norvegicus)
Mammalia Cobll1 35
  • 75.68 (n)
  • 67.16 (a)
(Monodelphis domestica)
Mammalia COBLL1 36
  • 48 (a)
(Ornithorhynchus anatinus)
Mammalia COBLL1 36
  • 50 (a)
(Gallus gallus)
Aves COBLL1 35
  • 60.45 (n)
  • 50.22 (a)
  • 45 (a)
(Anolis carolinensis)
Reptilia -- 36
  • 77 (a)
-- 36
  • 41 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia cobll1 35
  • 54.54 (n)
  • 45.69 (a)
(Danio rerio)
Actinopterygii COBLL1 (1 of 2) 36
  • 59 (a)
COBLL1 (2 of 2) 36
  • 29 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6479 36
  • 29 (a)
Species with no ortholog for COBLL1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 COBLL1 Gene

Gene Tree for COBLL1 (if available)
Gene Tree for COBLL1 (if available)

Paralogs for COBLL1 Gene

Paralogs for COBLL1 Gene

(1) SIMAP similar genes for COBLL1 Gene using alignment to 9 proteins:

genes like me logo Genes that share paralogs with COBLL1: view

Variants for COBLL1 Gene

Sequence variations from dbSNP and Humsavar for COBLL1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs355793 -- 164,802,380(-) TTCAA(A/T)CTTAG intron-variant
rs355794 -- 164,805,992(-) tggac(A/G)acacc intron-variant
rs355795 -- 164,807,941(-) TCGGG(A/G)GACTG intron-variant
rs355796 -- 164,815,924(-) GATTT(C/T)GATGG intron-variant
rs355797 -- 164,833,732(-) tggct(A/C/T)acgcc intron-variant

Structural Variations from Database of Genomic Variants (DGV) for COBLL1 Gene

Variant ID Type Subtype PubMed ID
nsv517875 CNV Loss 19592680
esv2661884 CNV Deletion 23128226
nsv520658 CNV Loss 19592680
dgv163e55 CNV Gain 17911159
nsv875366 CNV Loss 21882294
esv2642304 CNV Deletion 19546169
esv2045841 CNV Deletion 18987734

Variation tolerance for COBLL1 Gene

Residual Variation Intolerance Score: 31.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.63; 86.30% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for COBLL1 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COBLL1 Gene

Disorders for COBLL1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for COBLL1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
x-linked nonsyndromic deafness
  • x-linked deafness
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for COBLL1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with COBLL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for COBLL1 Gene

Publications for COBLL1 Gene

  1. Evidence for genes on chromosome 2 contributing to alcohol dependence with conduct disorder and suicide attempts. (PMID: 20468071) Dick D.M. … Bierut L. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010) 3 48 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3
  4. A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus. (PMID: 25130324) Cai D.C. … Hagoort P. (Genes Brain Behav. 2014) 3
  5. The COBLL1 C allele is associated with lower serum insulin levels and lower insulin resistance in overweight and obese children. (PMID: 23463496) Mancina R.M. … Baroni M.G. (Diabetes Metab. Res. Rev. 2013) 3

Products for COBLL1 Gene

Sources for COBLL1 Gene