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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

Genomic Location for COBLL1 Gene

Chromosome:
2
Start:
164,653,624 bp from pter
End:
164,843,679 bp from pter
Size:
190,056 bases
Orientation:
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:
    Q53SF7-COBL1_HUMAN
    Recommended name:
    Cordon-bleu protein-like 1
    Protein Accession:
    Q53SF7
    Secondary Accessions:
    • A6NMZ3
    • Q6IQ33
    • Q7Z3I6
    • Q9BRH4
    • Q9UG88
    • Q9Y2I3

    Protein attributes for COBLL1 Gene

    Size:
    1204 amino acids
    Molecular mass:
    131787 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

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

Antibody Products

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

Q53SF7

UniProtKB/Swiss-Prot:

COBL1_HUMAN :
  • Contains 1 WH2 domain.
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

COMPARTMENTS
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)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000341360%0d%0a9606.ENSP00000346890%0d%0a9606.ENSP00000244458%0d%0a
Selected Interacting proteins: Q53SF7-COBL1_HUMAN ENSP00000341360 for COBLL1 Gene via I2D STRING

Gene Ontology (GO) - Biological Process for COBLL1 Gene

None

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: - -
SP9:

ExUns: 18 ^ 19a · 19b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for COBLL1 Gene

GeneLoc Exon Structure for
COBLL1
ECgene alternative splicing isoforms for
COBLL1

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

In Situ Assay 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
chimpanzee
(Pan troglodytes)
Mammalia COBLL1 35
  • 99.49 (n)
  • 99.11 (a)
COBLL1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia COBLL1 36
  • 81 (a)
OneToOne
COBLL1 35
  • 83.66 (n)
  • 75.48 (a)
dog
(Canis familiaris)
Mammalia COBLL1 35
  • 83.91 (n)
  • 77.37 (a)
COBLL1 36
  • 75 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cobll1 35
  • 74.36 (n)
  • 66.76 (a)
Cobll1 16
Cobll1 36
  • 62 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia COBLL1 36
  • 48 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia COBLL1 36
  • 50 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cobll1 35
  • 75.68 (n)
  • 67.16 (a)
chicken
(Gallus gallus)
Aves COBLL1 35
  • 60.45 (n)
  • 50.22 (a)
COBLL1 36
  • 45 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 77 (a)
OneToMany
-- 36
  • 41 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia cobll1 35
  • 54.54 (n)
  • 45.69 (a)
zebrafish
(Danio rerio)
Actinopterygii COBLL1 (1 of 2) 36
  • 59 (a)
OneToMany
COBLL1 (2 of 2) 36
  • 29 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6479 36
  • 29 (a)
OneToMany
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

ENSEMBL:
Gene Tree for COBLL1 (if available)
TreeFam:
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
rs50916 -- 164,752,143(+) TCTAT(C/G)CAGTA intron-variant
rs398285 -- 164,749,597(+) CAGAA(G/T)AATTT intron-variant
rs401131 -- 164,752,884(+) AATAC(A/G)GGTAT intron-variant
rs366965 -- 164,753,919(+) gtaga(C/G)acagg intron-variant
rs404682 -- 164,754,852(+) GTGAC(A/G)ATGAA 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

HapMap Linkage Disequilibrium report
COBLL1
Human Gene Mutation Database (HGMD)
COBLL1

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)
COBLL1
Human Genome Epidemiology (HuGE) Navigator
COBLL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
COBLL1
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 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
  4. Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. (PMID: 23563607) Berndt S.I. … Ingelsson E. (Nat. Genet. 2013) 3
  5. Discovery and refinement of loci associated with lipid levels. (PMID: 24097068) . … Abecasis G.R. (Nat. Genet. 2013) 3

Products for COBLL1 Gene

Sources for COBLL1 Gene

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