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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-Type E3 Ubiquitin Transferase Hakai 3 4
  • 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 2.3.2.27 4
  • EC 6.3.2 58

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 HIV Life Cycle and Listeria monocytogenes entry into host cells. 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.

Additional gene information for CBLL1 Gene

No data available for CIViC summary , 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
GH07H106772 1.9 FANTOM5 Ensembl ENCODE dbSUPER 27.4 -968.9 -968947 4 HDGF PKNOX1 ARNT YY1 ZNF766 FOS ZNF592 MEF2D SMARCA4 NBN ATXN7L1 CBLL1 ENSG00000272072 ENSG00000228742 CCDC71L ENSG00000267052 PIK3CG COG5 ENSG00000243797
GH07H107166 1.7 Ensembl ENCODE dbSUPER 28.3 -574.3 -574321 5 MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC ZC3H11A MEF2D HBP1 ENSG00000272072 COG5 CBLL1 LAMB1 ENSG00000273055 PRKAR2B
GH07H107044 1.6 FANTOM5 ENCODE dbSUPER 19.2 -696.9 -696877 5 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 ZNF2 CBX5 REST ZNF592 CBLL1 COG5 ENSG00000272072 HBP1 LAMB1 ENSG00000273055 PRKAR2B GPR22 GC07M107108
GH07H107856 0.9 ENCODE 33.6 +114.0 113989 2 ELF3 FOXA2 MLX ARID4B RAD21 ZSCAN9 RARA GATA2 RUNX3 MIXL1 CBLL1 HBP1 RPL7P32 ENSG00000272072 LAMB1 COG5 PIGCP2 SLC26A3 LOC101927974 SLC26A4
GH07H106869 1.5 Ensembl ENCODE dbSUPER 18.7 -872.2 -872197 3 PKNOX1 ATF1 ARNT YY1 GATA2 ELK1 ATF7 RUNX3 CAVIN1 NCOA1 CBLL1 PIK3CG PRKAR2B
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000216604 603 2201 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1

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

Selected DME Specific Peptides for CBLL1 Gene

Q75N03:
  • YGRMIPCKHVFCYDCAILHEKKGDKMCPGC
  • HPHHIMPPQQHYAPPPPPPPPISHP
  • GLDVRRRIPIKLISK
  • HPPQAAGTPH
  • SMAPPPPR
  • PVQRIEQC
  • PPYMNHPPPGPPP
  • APPPITPPPGHIIAQ
  • QHVPHEH
  • HSNLITVPIQDDSNSGARE
  • WPAPRGPPP
  • EDQGTLSPPFTQPGGMSPG
  • RGSLFMCSIVQGCKRTYLSQRDLQAHINHRHMRA
  • APPPHHYNP

Post-translational modifications for CBLL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

Function for CBLL1 Gene

Molecular function for CBLL1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.
UniProtKB/Swiss-Prot Function:
Promotes ubiquitination of several tyrosine-phosphorylated Src substrates, including CDH1, CTTN and DOK1. Targets CDH1 for endocytosis and degradation.

Enzyme Numbers (IUBMB) for CBLL1 Gene

Phenotypes From GWAS Catalog 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:0016740 transferase activity IEA --
GO:0042802 identical protein binding IEA --
GO:0046872 metal ion 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

  • Applied Biological Materials Clones for CBLL1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
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 CBLL1 gene
Compartment Confidence
nucleus 5
cytosol 4
plasma membrane 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CBLL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000151 ubiquitin ligase complex IC 14996930
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IEA --
GO:0005829 cytosol TAS --
GO:0016607 nuclear speck IDA --
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

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 --
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

  • Applied Biological Materials Clones for CBLL1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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

Evidence on tissue expression from TISSUES for CBLL1 Gene

  • Lung(4.3)
  • Nervous system(4)
  • Intestine(2)
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 , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia CBLL1 33 34
  • 99.73 (n)
dog
(Canis familiaris)
Mammalia CBLL1 33 34
  • 96.74 (n)
cow
(Bos Taurus)
Mammalia CBLL1 33 34
  • 95.52 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 95 (a)
ManyToMany
-- 34
  • 55 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Cbll1 33
  • 93.85 (n)
mouse
(Mus musculus)
Mammalia Cbll1 33 16 34
  • 93.75 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 87 (a)
OneToMany
chicken
(Gallus gallus)
Aves CBLL1 33 34
  • 81.67 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 84 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia cbll1 33
  • 78.67 (n)
Str.16186 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.3484 33
zebrafish
(Danio rerio)
Actinopterygii cbll1 34
  • 69 (a)
ManyToMany
CU041386.1 34
  • 65 (a)
ManyToMany
LOC100002706 33
  • 64.81 (n)
zgc55308 33
fruit fly
(Drosophila melanogaster)
Insecta Hakai 34
  • 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
rs183578733 Uncertain significance 107,765,469(+) ACATC(C/T)ACTGT downstream-variant-500B, utr-variant-3-prime
rs1000065847 -- 107,746,372(+) CTCAG(A/G)TGTCC intron-variant, upstream-variant-2KB
rs1000160253 -- 107,763,614(+) AGCAG(A/C)TTAGG utr-variant-3-prime
rs1000185814 -- 107,764,646(+) GGATT(A/G)CTTGA utr-variant-3-prime
rs1000362527 -- 107,760,340(+) AAAAC(-/T)TTTAT 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)

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 JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  2. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier LW … Wilson RK (Nature 2003) 3 4 60
  3. E-cadherin and Hakai: signalling, remodeling or destruction? (PMID: 11944035) Pece S … Gutkind JS (Nature cell biology 2002) 2 3 60
  4. Hakai, a c-Cbl-like protein, ubiquitinates and induces endocytosis of the E-cadherin complex. (PMID: 11836526) Fujita Y … Birchmeier W (Nature cell biology 2002) 2 3 60
  5. Hakai, an E3-ligase for E-cadherin, stabilizes δ-catenin through Src kinase. (PMID: 28069439) Shrestha H … Kim K (Cellular signalling 2017) 3 60

Products for CBLL1 Gene

Sources for CBLL1 Gene

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