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Aliases for COBLL1 Gene

Aliases for COBLL1 Gene

  • Cordon-Bleu WH2 Repeat Protein Like 1 2 3 5
  • COBL-Like 1 2 3
  • Cordon-Bleu WH2 Repeat Protein-Like 1 2
  • Cordon-Bleu Protein-Like 1 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 Epilepsy, Familial Temporal Lobe, 4 and 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 , CIViC 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 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
GH02G164908 1.8 FANTOM5 Ensembl ENCODE dbSUPER 4.7 -68.3 -68327 7.5 HNRNPUL1 FOXA2 ATF1 ZFP64 SIN3A ARID4B YY1 ZNF121 GATA2 ZNF143 SLC38A11 RNA5SP111 COBLL1
GH02G164769 0.7 dbSUPER 12 +72.8 72834 2.4 ZNF362 FOXA2 ZBTB21 ZNF843 BCL11B ATF2 FOXA1 JUND PRDM6 RAD51 COBLL1 GC02M164829 SNORA70F GC02M164689
GH02G164775 0.5 ENCODE 12.1 +67.9 67927 0.9 ZFHX2 ZBTB40 EGR2 COBLL1 GC02M164829 GC02M164689 SNORA70F
GH02G164990 0.9 Ensembl ENCODE 6.5 -148.2 -148168 2.7 ELF3 CTCF ZNF654 NFIA REST RAD21 MAFF SCRT2 SMC3 NFE2 SLC38A11 COBLL1 SCN2A GC02M165092
GH02G164709 0.9 ENCODE 6 +132.5 132490 2.8 ELF3 HNRNPUL1 TBP PKNOX1 FOXA2 ZFP64 THRB ZNF48 ZSCAN9 RARA ENSG00000224331 SNORA70F COBLL1 SLC38A11 GC02M164689 GC02M164829
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around COBLL1 on UCSC Golden Path with GeneCards custom track

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

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

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

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

Function for COBLL1 Gene

Gene Ontology (GO) - Molecular Function for COBLL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003785 actin monomer binding IBA --
GO:0045296 cadherin binding IDA 25468996
genes like me logo Genes that share ontologies with COBLL1: view
genes like me logo Genes that share phenotypes with COBLL1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

Localization for COBLL1 Gene

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 COBLL1 gene
Compartment Confidence
extracellular 5
nucleus 4
cytosol 3
plasma membrane 2

Gene Ontology (GO) - Cellular Components for COBLL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with COBLL1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for COBLL1 Gene

Pathways & Interactions for COBLL1 Gene

SuperPathways for COBLL1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for COBLL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030041 actin filament polymerization IBA --
GO:0051639 actin filament network formation IBA --
genes like me logo Genes that share ontologies with COBLL1: view

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

Transcripts for COBLL1 Gene

Unigene Clusters for COBLL1 Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, PaxDb, MaxQB, and MOPED for COBLL1 Gene



NURSA nuclear receptor signaling pathways regulating expression of COBLL1 Gene:

COBLL1

SOURCE GeneReport for Unigene cluster for COBLL1 Gene:

Hs.470457

Evidence on tissue expression from TISSUES for COBLL1 Gene

  • Kidney(4.4)
  • Liver(4.4)
  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with COBLL1: view

Primer Products

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 34 35
  • 99.49 (n)
dog
(Canis familiaris)
Mammalia COBLL1 34 35
  • 83.91 (n)
cow
(Bos Taurus)
Mammalia COBLL1 34 35
  • 83.66 (n)
rat
(Rattus norvegicus)
Mammalia Cobll1 34
  • 75.68 (n)
mouse
(Mus musculus)
Mammalia Cobll1 34 16 35
  • 74.36 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia COBLL1 35
  • 50 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia COBLL1 35
  • 48 (a)
OneToOne
chicken
(Gallus gallus)
Aves COBLL1 34 35
  • 60.45 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 77 (a)
OneToMany
-- 35
  • 41 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia cobll1 34
  • 54.54 (n)
zebrafish
(Danio rerio)
Actinopterygii COBLL1 (1 of 2) 35
  • 59 (a)
OneToMany
COBLL1 (2 of 2) 35
  • 29 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6479 35
  • 29 (a)
OneToMany
Species where no ortholog for COBLL1 was found in the sources mined by GeneCards:
  • 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
rs1000005032 -- 164,754,167(+) AAAAG(G/T)TATTA intron-variant
rs1000053458 -- 164,797,884(+) TTCCG(C/T)TTTAG intron-variant
rs1000083921 -- 164,798,240(+) CTTCA(C/T)ATCTC intron-variant
rs1000095999 -- 164,840,355(+) CAGGT(C/T)ACTCC intron-variant, upstream-variant-2KB
rs1000109883 -- 164,787,448(+) ATGAG(A/T)TGATG intron-variant

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

Variant ID Type Subtype PubMed ID
dgv163e55 CNV gain 17911159
dgv4098n100 CNV loss 25217958
dgv4099n100 CNV gain 25217958
esv2045841 CNV deletion 18987734
esv2642304 CNV deletion 19546169
esv2661884 CNV deletion 23128226
esv2762947 CNV gain 21179565
esv3593223 CNV gain 21293372
esv3593224 CNV loss 21293372
nsv1003734 CNV gain 25217958
nsv1009454 CNV loss 25217958
nsv1109308 CNV deletion 24896259
nsv517875 CNV loss 19592680
nsv520658 CNV loss 19592680
nsv583555 CNV gain 21841781
nsv961523 CNV duplication 23825009

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)
COBLL1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
COBLL1

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

Disorders for COBLL1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for COBLL1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
epilepsy, familial temporal lobe, 4
  • familial temporal lobe epilepsy 4
x-linked nonsyndromic deafness
  • x-linked deafness
nonsyndromic deafness
  • nonsyndromic hearing loss
- 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. Genome-wide association of lipid-lowering response to statins in combined study populations. (PMID: 20339536) Barber M.J. … Krauss R.M. (PLoS ONE 2010) 3 46 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  3. 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 46 64
  4. Biological, clinical and population relevance of 95 loci for blood lipids. (PMID: 20686565) Teslovich T.M. … Kathiresan S. (Nature 2010) 3 46 64
  5. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PMID: 16964243) Beausoleil S.A. … Gygi S.P. (Nat. Biotechnol. 2006) 3 4 64

Products for COBLL1 Gene

Sources for COBLL1 Gene

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