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

    Gene ID: 104836, updated on 6-Jun-2024

    Summary

    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, Apr 2022]
    Expression
    Ubiquitous expression in testis adult (RPKM 6.4), whole brain E14.5 (RPKM 3.7) and 28 other tissues See more
    Orthologs
    NEW
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    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 transferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    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 
    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 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

    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)

    NEW Try the new Transcript table

    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_001253847.1NP_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:109148
      zf-C3HC4_2; Zinc finger, C3HC4 type (RING finger)
    2. NM_001253848.1NP_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:105144
      zf-C3HC4_2; Zinc finger, C3HC4 type (RING finger)
    3. NM_001422897.1NP_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_001422898.1NP_001409827.1  E3 ubiquitin-protein ligase Hakai isoform 5

      Status: VALIDATED

      Source sequence(s)
      CR974423
    5. NM_134048.2NP_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:108147
      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_006514939.5XP_006515002.1  E3 ubiquitin-protein ligase Hakai isoform X4

      Conserved Domains (2) summary
      cd16508
      Location:114155
      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:168199
      zf_Hakai; C2H2 Hakai zinc finger domain
    2. XM_006514938.5XP_006515001.1  E3 ubiquitin-protein ligase Hakai isoform X3

      Conserved Domains (2) summary
      cd16508
      Location:115156
      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:169200
      zf_Hakai; C2H2 Hakai zinc finger domain
    3. XM_006514937.5XP_006515000.1  E3 ubiquitin-protein ligase Hakai isoform X2

      Conserved Domains (2) summary
      cd16508
      Location:117158
      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:171202
      zf_Hakai; C2H2 Hakai zinc finger domain
    4. XM_006514936.5XP_006514999.1  E3 ubiquitin-protein ligase Hakai isoform X1

      Conserved Domains (2) summary
      cd16508
      Location:118159
      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:172203
      zf_Hakai; C2H2 Hakai zinc finger domain
    5. XM_006514942.5XP_006515005.1  E3 ubiquitin-protein ligase Hakai isoform X7

      Conserved Domains (2) summary
      cd16508
      Location:5798
      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:111142
      zf_Hakai; C2H2 Hakai zinc finger domain
    6. XM_017314930.3XP_017170419.1  E3 ubiquitin-protein ligase Hakai isoform X9

      Conserved Domains (2) summary
      cd16508
      Location:5495
      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:108139
      zf_Hakai; C2H2 Hakai zinc finger domain
    7. XM_030246499.2XP_030102359.1  E3 ubiquitin-protein ligase Hakai isoform X8

      Conserved Domains (2) summary
      cd16508
      Location:5697
      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:110141
      zf_Hakai; C2H2 Hakai zinc finger domain