Aliases for COBLL1 Gene

Aliases for COBLL1 Gene

  • Cordon-Bleu WH2 Repeat Protein Like 1 2 3 5
  • Cordon-Bleu Protein-Like 1 3 4
  • COBL-Like 1 2 3
  • Cordon-Bleu WH2 Repeat Protein-Like 1 2
  • 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. Gene Ontology (GO) annotations related to this gene include actin binding. An important paralog of this gene is COBL.

Gene Wiki entry for COBLL1 Gene

Additional gene information for COBLL1 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for COBLL1 Gene

Genomics for COBLL1 Gene

GeneHancer (GH) Regulatory Elements for COBLL1 Gene

Promoters and enhancers for COBLL1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J164837 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 750.6 +2.5 2497 6.8 SIN3A CTCF ZBTB6 FOXA1 MLX RBPJ POLR2A NR2F6 CREB1 MIXL1 COBLL1 ENSG00000236283 LOC101929633 lnc-SLC38A11-4 SLC38A11 SNORA70F
GH02J164866 Enhancer 0.7 Ensembl ENCODE 12 -23.7 -23722 3.6 ZNF644 ZIC2 PRDM10 OSR2 ZBTB17 WT1 HNF4A ZNF664 HOMEZ PRDM6 piR-31292-097 COBLL1 RF00001-179 RNA5SP111 ENSG00000236283 LOC101929633
GH02J164769 Enhancer 0.7 Ensembl dbSUPER 12 +72.6 72578 2.6 ZBTB6 ZNF362 ATF7 FOXA1 FOXA2 ATF2 ZNF843 PRDM6 ZBTB21 COBLL1 SLC38A11 RF00012-024 lnc-SLC38A11-2 lnc-SLC38A11-4
GH02J164908 Enhancer 1.6 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 4.7 -68.3 -68339 7.6 CTCF CREB1 MIXL1 NFYC HLF MAX RAD21 MNT SP1 RERE SLC38A11 RNA5SP111 COBLL1 RF00001-179 lnc-COBLL1-2 ENSG00000236283 LOC101929633
GH02J164775 Enhancer 0.5 Ensembl ENCODE 12.1 +68.1 68088 1.2 ZFHX2 YY1 COBLL1 RF00012-024 lnc-SLC38A11-2 lnc-SLC38A11-4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around COBLL1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the COBLL1 gene promoter:
  • AREB6
  • ATF-2
  • CP2
  • FOXF2
  • MyoD
  • NF-1
  • Nkx2-5
  • Pbx1a
  • SRF
  • SRF (504 AA)

Genomic Locations for COBLL1 Gene

Genomic Locations for COBLL1 Gene
190,056 bases
Minus strand
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

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

Gene Families for COBLL1 Gene

Protein Domains for COBLL1 Gene

Suggested Antigen Peptide Sequences for COBLL1 Gene

GenScript: Design optimal peptide antigens:
  • Cordon-bleu protein-like 1 (COBL1_HUMAN)
genes like me logo Genes that share domains with COBLL1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for COBLL1 Gene

Function for COBLL1 Gene

Phenotypes From GWAS Catalog for COBLL1 Gene

Gene Ontology (GO) - Molecular Function for COBLL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003785 actin monomer binding IEA --
GO:0045296 cadherin binding HDA 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

Clone 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

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
nucleus 3
cytosol 3
plasma membrane 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for COBLL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070062 extracellular exosome HDA 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

PathCards logo

SuperPathways for COBLL1 Gene

No Data Available

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

CRISPR Products

Clone 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: - -

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 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, MaxQB, and MOPED for COBLL1 Gene

NURSA nuclear receptor signaling pathways regulating expression of COBLL1 Gene:


SOURCE GeneReport for Unigene cluster for COBLL1 Gene:


Evidence on tissue expression from TISSUES for COBLL1 Gene

  • Kidney(4.4)
  • Liver(4.4)
  • Nervous system(4.2)
  • Blood(2)
genes like me logo Genes that share expression patterns with COBLL1: view

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
(Pan troglodytes)
Mammalia COBLL1 33 32
  • 99.49 (n)
(Canis familiaris)
Mammalia COBLL1 33 32
  • 83.91 (n)
(Bos Taurus)
Mammalia COBLL1 33 32
  • 83.66 (n)
(Rattus norvegicus)
Mammalia Cobll1 32
  • 75.68 (n)
(Mus musculus)
Mammalia Cobll1 17 33 32
  • 74.36 (n)
(Ornithorhynchus anatinus)
Mammalia COBLL1 33
  • 50 (a)
(Monodelphis domestica)
Mammalia COBLL1 33
  • 48 (a)
(Gallus gallus)
Aves COBLL1 33 32
  • 60.45 (n)
(Anolis carolinensis)
Reptilia -- 33
  • 77 (a)
-- 33
  • 41 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia cobll1 32
  • 54.54 (n)
(Danio rerio)
Actinopterygii COBLL1 (1 of 2) 33
  • 59 (a)
COBLL1 (2 of 2) 33
  • 29 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6479 33
  • 29 (a)
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

Gene Tree for COBLL1 (if available)
Gene Tree for COBLL1 (if available)
Evolutionary constrained regions (ECRs) for COBLL1: view image

Paralogs for COBLL1 Gene

Paralogs for COBLL1 Gene

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

  • C9J5Y6_HUMAN
  • C9J8C4_HUMAN
  • C9JK90_HUMAN
  • G8JL86_HUMAN
  • H7C1G2_HUMAN
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 Variation AA Info Type
rs1000005032 -- 164,754,167(-) G/T intron_variant
rs1000028341 -- 164,657,707(-) A/G/T downstream_transcript_variant
rs1000053458 -- 164,797,884(-) T/C intron_variant
rs1000083921 -- 164,798,240(-) C/T intron_variant
rs1000095999 -- 164,840,355(-) T/C 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)

Additional Variant Information for COBLL1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for COBLL1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for COBLL1 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
epilepsy, familial temporal lobe, 4
  • etl4
x-linked nonsyndromic deafness
  • x-linked deafness
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for COBLL1

Genetic Association Database
Human Genome Epidemiology 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. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 43 56
  2. Biological, clinical and population relevance of 95 loci for blood lipids. (PMID: 20686565) Teslovich TM … Kathiresan S (Nature 2010) 3 43 56
  3. Genome-wide association of lipid-lowering response to statins in combined study populations. (PMID: 20339536) Barber MJ … Krauss RM (PloS one 2010) 3 43 56
  4. Evidence for genes on chromosome 2 contributing to alcohol dependence with conduct disorder and suicide attempts. (PMID: 20468071) Dick DM … Bierut L (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2010) 3 43 56
  5. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PMID: 16964243) Beausoleil SA … Gygi SP (Nature biotechnology 2006) 3 4 56

Products for COBLL1 Gene

Sources for COBLL1 Gene