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    Cbll1 Casitas B-lineage lymphoma-like 1 [ Mus musculus (house mouse) ]

    Gene ID: 104836, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Cbll1provided by MGI
    Official Full Name
    Casitas B-lineage lymphoma-like 1provided by MGI
    Primary source
    MGI:MGI:2144842
    See related
    Ensembl:ENSMUSG00000020659 AllianceGenome:MGI:2144842
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Hakai; c-Cbl-like
    Summary
    Enables identical protein binding activity and ubiquitin protein ligase activity. Acts upstream of or within negative regulation of cell adhesion; positive regulation of cell migration; and positive regulation of endocytosis. Located in cytoplasm and nucleus. Part of RNA N6-methyladenosine methyltransferase complex. Is expressed in heart ventricle. Orthologous to human CBLL1 (Cbl proto-oncogene like 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis adult (RPKM 6.4), whole brain E14.5 (RPKM 3.7) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Cbll1 in Genome Data Viewer
    Location:
    12 A2; 12 13.49 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 12 NC_000078.7 (31534828..31550536, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 12 NC_000078.6 (31484829..31500676, complement)

    Chromosome 12 - NC_000078.7Genomic Context describing neighboring genes Neighboring gene tripartite motif-containing 13 pseudogene Neighboring gene solute carrier family 26, member 3 Neighboring gene predicted gene, 40362 Neighboring gene solute carrier family 26, member 4 Neighboring gene B cell receptor associated protein 29

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Alteration of E-cadherin and beta-catenin in mouse vestibular epithelia during induction of apoptosis. Kim TS, et al. Neurosci Lett, 2002 Aug 30. PMID 12165405
    2. Novel roles of hakai in cell proliferation and oncogenesis. Figueroa A, et al. Mol Biol Cell, 2009 Aug. PMID 19535458, Free PMC Article
    3. Hakai, a c-Cbl-like protein, ubiquitinates and induces endocytosis of the E-cadherin complex. Fujita Y, et al. Nat Cell Biol, 2002 Mar. PMID 11836526
    4. Structure of a novel phosphotyrosine-binding domain in Hakai that targets E-cadherin. Mukherjee M, et al. EMBO J, 2012 Mar 7. PMID 22252131, Free PMC Article
    5. Zc3h13 Regulates Nuclear RNA m(6)A Methylation and Mouse Embryonic Stem Cell Self-Renewal. Wen J, et al. Mol Cell, 2018 Mar 15. PMID 29547716, Free PMC Article

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Role of the E3 ubiquitin-ligase Hakai in intestinal inflammation and cancer bowel disease.
      Title: Role of the E3 ubiquitin-ligase Hakai in intestinal inflammation and cancer bowel disease.
    2. Results suggest that Hakai is an important regulator of cell proliferation and that Hakai may be an oncoprotein and a potential molecular target for cancer treatment.
      Title: Novel roles of hakai in cell proliferation and oncogenesis.
    3. E-cadherin distribution and expression is altered in utricle epithelia with induction of apoptosis.
      Title: Alteration of E-cadherin and beta-catenin in mouse vestibular epithelia during induction of apoptosis.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (5) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquitin protein ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ubiquitin protein ligase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell-cell adhesion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell-cell adhesion ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in mRNA processing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mRNA processing ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within negative regulation of cell adhesion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within positive regulation of cell migration IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within positive regulation of endocytosis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein ubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of cell adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of RNA N6-methyladenosine methyltransferase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of RNA N6-methyladenosine methyltransferase complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nuclear speck IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nuclear speck ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    E3 ubiquitin-protein ligase Hakai
    Names
    E-cadherin binding protein E7
    RING-type E3 ubiquitin transferase Hakai
    c-Cbl-like protein 1
    casitas B-lineage lymphoma-transforming sequence-like protein 1
    NP_001240776.1
    NP_001240777.1
    NP_001409826.1
    NP_001409827.1
    NP_598809.1
    XP_006514999.1
    XP_006515000.1
    XP_006515001.1
    XP_006515002.1
    XP_006515005.1
    XP_017170419.1
    XP_030102359.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001253847.1 → NP_001240776.1  E3 ubiquitin-protein ligase Hakai isoform 1

      See identical proteins and their annotated locations for NP_001240776.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AK051737, CR974423
      Consensus CDS
      CCDS56834.1
      UniProtKB/Swiss-Prot
      Q3TMC0, Q8C7W5, Q8VCL9, Q9JIY2
      Related
      ENSMUSP00000099038.4, ENSMUST00000101499.10
      Conserved Domains (1) summary
      pfam13923
      Location:109 → 148
      zf-C3HC4_2; Zinc finger, C3HC4 type (RING finger)

    2. NM_001253848.1 → NP_001240777.1  E3 ubiquitin-protein ligase Hakai isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site and lacks an segment in the coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      CR974423
      Consensus CDS
      CCDS56835.1
      UniProtKB/TrEMBL
      A0A087WPK1
      Related
      ENSMUSP00000139809.3, ENSMUST00000188326.3
      Conserved Domains (1) summary
      pfam13923
      Location:105 → 144
      zf-C3HC4_2; Zinc finger, C3HC4 type (RING finger)

    3. NM_001422897.1 → NP_001409826.1  E3 ubiquitin-protein ligase Hakai isoform 4

      Status: VALIDATED

      Source sequence(s)
      CR974423
      UniProtKB/TrEMBL
      A0A1X7SB71
      Related
      ENSMUSP00000063266.8, ENSMUST00000064240.14

    4. NM_001422898.1 → NP_001409827.1  E3 ubiquitin-protein ligase Hakai isoform 5

      Status: VALIDATED

      Source sequence(s)
      CR974423

    5. NM_134048.2 → NP_598809.1  E3 ubiquitin-protein ligase Hakai isoform 2

      See identical proteins and their annotated locations for NP_598809.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      BB651673, CR974423
      Consensus CDS
      CCDS88321.1
      Related
      ENSMUSP00000141007.3, ENSMUST00000185739.8
      Conserved Domains (1) summary
      pfam13923
      Location:108 → 147
      zf-C3HC4_2; Zinc finger, C3HC4 type (RING finger)

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000078.7 Reference GRCm39 C57BL/6J

      Range
      31534828..31550536 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006514939.5 → XP_006515002.1  E3 ubiquitin-protein ligase Hakai isoform X4

      Conserved Domains (2) summary
      cd16508
      Location:114 → 155
      RING-HC_HAKAI_like; RING finger, HC subclass, found in E3 ubiquitin-protein ligase Hakai, zinc finger protein 645 (ZNF645), and similar proteins
      pfam18408
      Location:168 → 199
      zf_Hakai; C2H2 Hakai zinc finger domain

    2. XM_006514938.5 → XP_006515001.1  E3 ubiquitin-protein ligase Hakai isoform X3

      Conserved Domains (2) summary
      cd16508
      Location:115 → 156
      RING-HC_HAKAI_like; RING finger, HC subclass, found in E3 ubiquitin-protein ligase Hakai, zinc finger protein 645 (ZNF645), and similar proteins
      pfam18408
      Location:169 → 200
      zf_Hakai; C2H2 Hakai zinc finger domain

    3. XM_006514937.5 → XP_006515000.1  E3 ubiquitin-protein ligase Hakai isoform X2

      Conserved Domains (2) summary
      cd16508
      Location:117 → 158
      RING-HC_HAKAI_like; RING finger, HC subclass, found in E3 ubiquitin-protein ligase Hakai, zinc finger protein 645 (ZNF645), and similar proteins
      pfam18408
      Location:171 → 202
      zf_Hakai; C2H2 Hakai zinc finger domain

    4. XM_006514936.5 → XP_006514999.1  E3 ubiquitin-protein ligase Hakai isoform X1

      Conserved Domains (2) summary
      cd16508
      Location:118 → 159
      RING-HC_HAKAI_like; RING finger, HC subclass, found in E3 ubiquitin-protein ligase Hakai, zinc finger protein 645 (ZNF645), and similar proteins
      pfam18408
      Location:172 → 203
      zf_Hakai; C2H2 Hakai zinc finger domain

    5. XM_006514942.5 → XP_006515005.1  E3 ubiquitin-protein ligase Hakai isoform X7

      Conserved Domains (2) summary
      cd16508
      Location:57 → 98
      RING-HC_HAKAI_like; RING finger, HC subclass, found in E3 ubiquitin-protein ligase Hakai, zinc finger protein 645 (ZNF645), and similar proteins
      pfam18408
      Location:111 → 142
      zf_Hakai; C2H2 Hakai zinc finger domain

    6. XM_017314930.3 → XP_017170419.1  E3 ubiquitin-protein ligase Hakai isoform X9

      Conserved Domains (2) summary
      cd16508
      Location:54 → 95
      RING-HC_HAKAI_like; RING finger, HC subclass, found in E3 ubiquitin-protein ligase Hakai, zinc finger protein 645 (ZNF645), and similar proteins
      pfam18408
      Location:108 → 139
      zf_Hakai; C2H2 Hakai zinc finger domain

    7. XM_030246499.2 → XP_030102359.1  E3 ubiquitin-protein ligase Hakai isoform X8

      Conserved Domains (2) summary
      cd16508
      Location:56 → 97
      RING-HC_HAKAI_like; RING finger, HC subclass, found in E3 ubiquitin-protein ligase Hakai, zinc finger protein 645 (ZNF645), and similar proteins
      pfam18408
      Location:110 → 141
      zf_Hakai; C2H2 Hakai zinc finger domain
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9JIY2.1 GenPept UniProtKB/Swiss-Prot:Q9JIY2

    Gene LinkOut

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