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Aliases for CBLL1 Gene

Aliases for CBLL1 Gene

  • Cbl Proto-Oncogene-Like 1, E3 Ubiquitin Protein Ligase 2 3
  • RNF188 3 4 6
  • HAKAI 3 4 6
  • Cas-Br-M (Murine) Ecotropic Retroviral Transforming Sequence-Like 1 2 3
  • Casitas B-Lineage Lymphoma-Transforming Sequence-Like Protein 1 3 4
  • RING Finger Protein 188 3 4
  • C-Cbl-Like Protein 1 3 4
  • 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 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, E3 Ubiquitin Protein Ligase) is a Protein Coding gene. Among its related pathways are Remodeling of Adherens Junctions. GO annotations related to this gene include ubiquitin-protein transferase 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for CBLL1 Gene

Start:
107,743,697 bp from pter
End:
107,761,667 bp from pter
Size:
17,971 bases
Orientation:
Plus strand

Genomic View for CBLL1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

    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 for CBLL1 Gene

Gene Families for CBLL1 Gene

HGNC:
  • RNF :RING-type (C3HC4) zinc fingers

Protein Domains for CBLL1 Gene

Graphical View of Domain Structure for InterPro Entry

Q75N03

UniProtKB/Swiss-Prot:

HAKAI_HUMAN :
  • Q75N03
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:0003676 nucleic acid binding --
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 --
genes like me logo Genes that share ontologies with CBLL1: view

Phenotypes for CBLL1 Gene

GenomeRNAi human phenotypes for CBLL1:
genes like me logo Genes that share phenotypes with CBLL1: view

Animal Model Products

CRISPR Products

miRNA for CBLL1 Gene

miRTarBase miRNAs that target CBLL1

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CBLL1

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for CBLL1 Gene

Localization for CBLL1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CBLL1 Gene COMPARTMENTS Subcellular localization image for CBLL1 gene
Compartment Confidence
nucleus 3

Gene Ontology (GO) - Cellular Components for CBLL1 Gene

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

No data available for Subcellular locations from UniProtKB/Swiss-Prot for CBLL1 Gene

Pathways 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

PCR Array Products

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:0030335 positive regulation of cell migration ISS --
GO:0045807 positive regulation of endocytosis ISS --
genes like me logo Genes that share ontologies with CBLL1: view

Transcripts for CBLL1 Gene

Unigene Clusters for CBLL1 Gene

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

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CBLL1

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for CBLL1

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CBLL1 Gene

SOURCE GeneReport for Unigene cluster for CBLL1 Gene Hs.592271

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

In Situ Assay Products

No data available for 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
chimpanzee
(Pan troglodytes)
Mammalia CBLL1 35
  • 99.73 (n)
  • 100 (a)
CBLL1 36
  • 100 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 95 (a)
ManyToMany
-- 36
  • 55 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 87 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Cbll1 35
  • 93.85 (n)
  • 97.54 (a)
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
African clawed frog
(Xenopus laevis)
Amphibia Xl.3484 35
tropical clawed frog
(Silurana tropicalis)
Amphibia cbll1 35
  • 78.67 (n)
  • 82.3 (a)
Str.16186 35
zebrafish
(Danio rerio)
Actinopterygii cbll1 36
  • 69 (a)
ManyToMany
CU041386.1 36
  • 65 (a)
ManyToMany
LOC100002706 35
  • 64.81 (n)
  • 66.96 (a)
zgc55308 35
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

Selected 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 MAF
rs988564 -- 107,748,589(+) TTTCT(G/T)TAAAC intron-variant
rs2023709 -- 107,749,718(+) aaaaa(A/T)aataa intron-variant
rs2023710 -- 107,749,748(+) TTACT(C/G)CCATA intron-variant
rs2023711 -- 107,749,762(+) CAATA(C/T)TGAGT intron-variant
rs2023712 -- 107,749,842(+) CATAG(C/T)ATTGA intron-variant

Relevant External Links for CBLL1 Gene

HapMap Linkage Disequilibrium report
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

(2) University of Copenhagen DISEASES for CBLL1 Gene

Relevant External Links for CBLL1

Genetic Association Database (GAD)
CBLL1
Human Genome Epidemiology (HuGE) Navigator
CBLL1
genes like me logo Genes that share disorders with CBLL1: view

No data available for UniProtKB/Swiss-Prot 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
  2. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier L.W. … Wilson R.K. (Nature 2003) 3 4
  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
  4. E-cadherin and Hakai: signalling, remodeling or destruction? (PMID: 11944035) Pece S. … Gutkind J.S. (Nat. Cell Biol. 2002) 2 3
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3

Products for CBLL1 Gene

Sources for CBLL1 Gene

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