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

Gene ID: 104836, updated on 11-Apr-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, 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
human all
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Genomic context

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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 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 
Process Evidence Code Pubs
involved_in cell-cell adhesion ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within multicellular organism development IEA
Inferred from Electronic Annotation
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 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 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
    UniProtKB/TrEMBL
    E9QM14
    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

  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
    UniProtKB/TrEMBL
    E9QM14
    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

    UniProtKB/TrEMBL
    E9QM14
    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

    UniProtKB/TrEMBL
    E9QM14
    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

    UniProtKB/TrEMBL
    E9QM14
    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

    UniProtKB/TrEMBL
    E9QM14
    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

    UniProtKB/TrEMBL
    E9QM14
    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

    UniProtKB/TrEMBL
    E9QM14
    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

    UniProtKB/TrEMBL
    E9QM14
    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

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