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Aliases for CBLL1 Gene

Aliases for CBLL1 Gene

  • Cbl Proto-Oncogene Like 1 2 3
  • Cbl Proto-Oncogene-Like 1, E3 Ubiquitin Protein Ligase 2 3 5
  • Cas-Br-M (Murine) Ecotropic Retroviral Transforming Sequence-Like 1 2 3
  • Casitas B-Lineage Lymphoma-Transforming Sequence-Like Protein 1 3 4
  • Cbl Proto-Oncogene Like 1, E3 Ubiquitin Protein Ligase 2 3
  • RING Finger Protein 188 3 4
  • C-Cbl-Like Protein 1 3 4
  • RNF188 3 4
  • HAKAI 3 4
  • Cbl Proto-Oncogene, E3 Ubiquitin Protein Ligase-Like 1 3
  • Casitas B-Lineage Lymphoma-Like 2
  • E-Cadherin Binding Protein E7 3
  • EC 6.3.2.- 4
  • EC 6.3.2 63

External Ids for CBLL1 Gene

Previous GeneCards Identifiers for CBLL1 Gene

  • GC07P106931
  • GC07P106945
  • GC07P106978
  • GC07P107171
  • GC07P107385
  • GC07P101746

Summaries for CBLL1 Gene

Entrez Gene Summary for CBLL1 Gene

  • This gene encodes an E3 ubiquitin-ligase for the E-cadherin complex and mediates its ubiquitination, endocytosis, and degradation in the lysosomes. The encoded protein contains a RING-finger domain and is also thought to have a role in control of cell proliferation. A related pseudogene has been identified on chromosome X. Alternative splicing results in a non-coding transcript variant. [provided by RefSeq, Aug 2011]

GeneCards Summary for CBLL1 Gene

CBLL1 (Cbl Proto-Oncogene Like 1) is a Protein Coding gene. Among its related pathways are Remodeling of Adherens Junctions. GO annotations related to this gene include nucleic acid binding and ligase activity. An important paralog of this gene is ZNF645.

UniProtKB/Swiss-Prot for CBLL1 Gene

  • Promotes ubiquitination of several tyrosine-phosphorylated Src substrates, including CDH1, CTTN and DOK1. Targets CDH1 for endocytosis and degradation (By similarity).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CBLL1 Gene

Genomics for CBLL1 Gene

Regulatory Elements for CBLL1 Gene

Enhancers for CBLL1 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 CBLL1 on UCSC Golden Path with GeneCards custom track

Promoters for CBLL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CBLL1 on UCSC Golden Path with GeneCards custom track

Genomic Location for CBLL1 Gene

Chromosome:
7
Start:
107,743,497 bp from pter
End:
107,762,011 bp from pter
Size:
18,515 bases
Orientation:
Plus strand

Genomic View for CBLL1 Gene

Genes around CBLL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CBLL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CBLL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CBLL1 Gene

Proteins for CBLL1 Gene

  • Protein details for CBLL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q75N03-HAKAI_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase Hakai
    Protein Accession:
    Q75N03
    Secondary Accessions:
    • B7ZM03
    • Q8TAJ4
    • Q9H5S6

    Protein attributes for CBLL1 Gene

    Size:
    491 amino acids
    Molecular mass:
    54519 Da
    Quaternary structure:
    • Homodimer. Interacts with tyrosine-phosphorylated SRC substrates. Component of the WTAP complex composed of WTAP, ZC3H13, CBLL1, KIAA1429, RBM15, BCLAF1 and THRAP3 (PubMed:24100041).

    Alternative splice isoforms for CBLL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CBLL1 Gene

Proteomics data for CBLL1 Gene at MOPED

Post-translational modifications for CBLL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CBLL1 Gene

Domains & Families for CBLL1 Gene

Gene Families for CBLL1 Gene

Protein Domains for CBLL1 Gene

Graphical View of Domain Structure for InterPro Entry

Q75N03

UniProtKB/Swiss-Prot:

HAKAI_HUMAN :
  • The HYB domain forms a phosphotyrosine-binding pocket upon dimerization, and mediates as well the recognition of its flanking acidic amino acids.
  • Contains 1 C2H2-type zinc finger.
Domain:
  • The HYB domain forms a phosphotyrosine-binding pocket upon dimerization, and mediates as well the recognition of its flanking acidic amino acids.
Similarity:
  • Contains 1 C2H2-type zinc finger.
  • Contains 1 RING-type zinc finger.
genes like me logo Genes that share domains with CBLL1: view

Function for CBLL1 Gene

Molecular function for CBLL1 Gene

UniProtKB/Swiss-Prot Function:
Promotes ubiquitination of several tyrosine-phosphorylated Src substrates, including CDH1, CTTN and DOK1. Targets CDH1 for endocytosis and degradation (By similarity).

Enzyme Numbers (IUBMB) for CBLL1 Gene

Gene Ontology (GO) - Molecular Function for CBLL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity TAS 14996930
GO:0005515 protein binding IEA,IPI 11836526
GO:0016874 ligase activity IEA --
genes like me logo Genes that share ontologies with CBLL1: view
genes like me logo Genes that share phenotypes with CBLL1: view

Animal Model Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CBLL1 Gene

Localization for CBLL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CBLL1 Gene

Nucleus speckle. Nucleus, nucleoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CBLL1 Gene COMPARTMENTS Subcellular localization image for CBLL1 gene
Compartment Confidence
nucleus 5
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for CBLL1 Gene

Pathways & Interactions for CBLL1 Gene

genes like me logo Genes that share pathways with CBLL1: view

Pathways by source for CBLL1 Gene

1 Qiagen pathway for CBLL1 Gene

UniProtKB/Swiss-Prot Q75N03-HAKAI_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for CBLL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016567 protein ubiquitination TAS 14996930
GO:0030155 regulation of cell adhesion IBA --
genes like me logo Genes that share ontologies with CBLL1: view

No data available for SIGNOR curated interactions for CBLL1 Gene

Drugs & Compounds for CBLL1 Gene

No Compound Related Data Available

Transcripts for CBLL1 Gene

Unigene Clusters for CBLL1 Gene

Cbl proto-oncogene, E3 ubiquitin protein ligase-like 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CBLL1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b
SP1: - - -
SP2: - -
SP3:
SP4:
SP5: - -
SP6: -

Relevant External Links for CBLL1 Gene

GeneLoc Exon Structure for
CBLL1
ECgene alternative splicing isoforms for
CBLL1

Expression for CBLL1 Gene

mRNA expression in normal human tissues for CBLL1 Gene

Protein differential expression in normal tissues from HIPED for CBLL1 Gene

This gene is overexpressed in CD8 Tcells (15.7), Peripheral blood mononuclear cells (13.6), and CD4 Tcells (10.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for CBLL1 Gene



SOURCE GeneReport for Unigene cluster for CBLL1 Gene Hs.592271

genes like me logo Genes that share expression patterns with CBLL1: view

Protein tissue co-expression partners for CBLL1 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for CBLL1 Gene

Orthologs for CBLL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CBLL1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CBLL1 35
  • 95.52 (n)
  • 96.74 (a)
CBLL1 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CBLL1 35
  • 96.74 (n)
  • 98.17 (a)
CBLL1 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cbll1 35
  • 93.75 (n)
  • 97.35 (a)
Cbll1 16
Cbll1 36
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CBLL1 35
  • 99.73 (n)
  • 100 (a)
CBLL1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cbll1 35
  • 93.85 (n)
  • 97.54 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 95 (a)
ManyToMany
-- 36
  • 55 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 87 (a)
OneToMany
chicken
(Gallus gallus)
Aves CBLL1 35
  • 81.67 (n)
  • 89.61 (a)
CBLL1 36
  • 73 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 84 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia cbll1 35
  • 78.67 (n)
  • 82.3 (a)
Str.16186 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.3484 35
zebrafish
(Danio rerio)
Actinopterygii LOC100002706 35
  • 64.81 (n)
  • 66.96 (a)
zgc55308 35
cbll1 36
  • 69 (a)
ManyToMany
CU041386.1 36
  • 65 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta Hakai 36
  • 23 (a)
OneToMany
Species with no ortholog for CBLL1:
  • 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)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 CBLL1 Gene

ENSEMBL:
Gene Tree for CBLL1 (if available)
TreeFam:
Gene Tree for CBLL1 (if available)

Paralogs for CBLL1 Gene

Paralogs for CBLL1 Gene

(1) SIMAP similar genes for CBLL1 Gene using alignment to 6 proteins:

Pseudogenes.org Pseudogenes for CBLL1 Gene

genes like me logo Genes that share paralogs with CBLL1: view

Variants for CBLL1 Gene

Sequence variations from dbSNP and Humsavar for CBLL1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs988564 -- 107,748,589(+) TTTCT(G/T)TAAAC intron-variant
rs6956243 -- 107,748,466(+) CTTGA(C/T)GATCA intron-variant
rs12673039 -- 107,751,108(+) tggaa(A/G)acagt intron-variant
rs6965877 -- 107,749,900(+) GGTTT(C/T)TGTTA intron-variant
rs12705421 -- 107,760,984(+) GAGAA(A/G)TGCTT nc-transcript-variant, utr-variant-3-prime

Variation tolerance for CBLL1 Gene

Residual Variation Intolerance Score: 6.08% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.54; 11.62% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Structural Variations from Database of Genomic Variants (DGV) and Relevant External Links for CBLL1 Gene

Disorders for CBLL1 Gene

Relevant External Links for CBLL1

Genetic Association Database (GAD)
CBLL1
Human Genome Epidemiology (HuGE) Navigator
CBLL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CBLL1

No disorders were found for CBLL1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CBLL1 Gene

Publications for CBLL1 Gene

  1. 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 48 67
  2. Hakai, a c-Cbl-like protein, ubiquitinates and induces endocytosis of the E-cadherin complex. (PMID: 11836526) Fujita Y. … Birchmeier W. (Nat. Cell Biol. 2002) 2 3
  3. E-cadherin and Hakai: signalling, remodeling or destruction? (PMID: 11944035) Pece S. … Gutkind J.S. (Nat. Cell Biol. 2002) 2 3
  4. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3

Products for CBLL1 Gene

Sources for CBLL1 Gene

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