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Aliases for CBLL1 Gene

Aliases for CBLL1 Gene

  • Cbl Proto-Oncogene Like 1 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-Like 1, E3 Ubiquitin Protein Ligase 2
  • Cbl Proto-Oncogene, E3 Ubiquitin Protein Ligase-Like 1 3
  • E3 Ubiquitin-Protein Ligase Hakai 3
  • Casitas B-Lineage Lymphoma-Like 2
  • E-Cadherin Binding Protein E7 3
  • EC 6.3.2.- 4
  • EC 6.3.2 61

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 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
- Elite enhancer/Elite enhancer-gene association

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

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 IPI 11836526
GO:0008270 zinc ion binding IEA --
GO:0016874 ligase activity IEA --
GO:0042802 identical protein binding 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

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry 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

Gene Ontology (GO) - Cellular Components for CBLL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000151 ubiquitin ligase complex IC 14996930
GO:0016607 nuclear speck IEA --
genes like me logo Genes that share ontologies with CBLL1: view

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:0007162 negative regulation of cell adhesion ISS --
GO:0016337 single organismal cell-cell adhesion IDA 11836526
GO:0016567 protein ubiquitination TAS 14996930
GO:0030155 regulation of cell adhesion IBA --
GO:0030335 positive regulation of cell migration ISS --
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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, MaxQB, and MOPED for CBLL1 Gene



Protein tissue co-expression partners for CBLL1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CBLL1 Gene:

CBLL1

SOURCE GeneReport for Unigene cluster for CBLL1 Gene:

Hs.592271
genes like me logo Genes that share expression patterns with CBLL1: view

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 34
  • 95.52 (n)
  • 96.74 (a)
CBLL1 35
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CBLL1 34
  • 96.74 (n)
  • 98.17 (a)
CBLL1 35
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cbll1 34
  • 93.75 (n)
  • 97.35 (a)
Cbll1 16
Cbll1 35
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CBLL1 34
  • 99.73 (n)
  • 100 (a)
CBLL1 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cbll1 34
  • 93.85 (n)
  • 97.54 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 95 (a)
ManyToMany
-- 35
  • 55 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 87 (a)
OneToMany
chicken
(Gallus gallus)
Aves CBLL1 34
  • 81.67 (n)
  • 89.61 (a)
CBLL1 35
  • 73 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 84 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia cbll1 34
  • 78.67 (n)
  • 82.3 (a)
Str.16186 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.3484 34
zebrafish
(Danio rerio)
Actinopterygii LOC100002706 34
  • 64.81 (n)
  • 66.96 (a)
zgc55308 34
cbll1 35
  • 69 (a)
ManyToMany
CU041386.1 35
  • 65 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta Hakai 35
  • 23 (a)
OneToMany
Species where no ortholog for CBLL1 was found in the sources mined by GeneCards:
  • 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
rs2106535 -- 107,760,036(+) ACATT(A/T)TTTTA nc-transcript-variant, utr-variant-3-prime
rs2106536 -- 107,760,289(+) GCTCA(A/G)GTTTC nc-transcript-variant, utr-variant-3-prime
rs2188565 -- 107,750,624(+) TATCC(A/G)GTCTT intron-variant
rs2285546 -- 107,752,420(+) ATtgt(G/T)tgtgt intron-variant
rs7802181 -- 107,741,961(+) CTAAA(A/G)TAAGT upstream-variant-2KB

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)

Relevant External Links for CBLL1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CBLL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) 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 46 65
  2. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier L.W. … Wilson R.K. (Nature 2003) 3 4 65
  3. 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 65
  4. E-cadherin and Hakai: signalling, remodeling or destruction? (PMID: 11944035) Pece S. … Gutkind J.S. (Nat. Cell Biol. 2002) 2 3 65
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3 65

Products for CBLL1 Gene

Sources for CBLL1 Gene

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