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    Rbck1 RanBP-type and C3HC4-type zinc finger containing 1 [ Mus musculus (house mouse) ]

    Gene ID: 24105, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Rbck1provided by MGI
    Official Full Name
    RanBP-type and C3HC4-type zinc finger containing 1provided by MGI
    Primary source
    MGI:MGI:1344372
    See related
    Ensembl:ENSMUSG00000027466 AllianceGenome:MGI:1344372
    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
    UIP28; HOIL-1; HOIL-1L; Ubce7ip3
    Summary
    Enables ubiquitin ligase activator activity. Involved in positive regulation of apoptotic process; positive regulation of intracellular signal transduction; and protein polyubiquitination. Acts upstream of or within negative regulation of necroptotic process and positive regulation of extrinsic apoptotic signaling pathway. Part of LUBAC complex. Is expressed in several structures, including central nervous system; genitourinary system; heart; lung; and sensory organ. Human ortholog(s) of this gene implicated in glycogen storage disease. Orthologous to human RBCK1 (RANBP2-type and C3HC4-type zinc finger containing 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in adrenal adult (RPKM 103.1), thymus adult (RPKM 93.1) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Rbck1 in Genome Data Viewer
    Location:
    2 G3; 2 74.83 cM
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (152158254..152174592, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (152316334..152332663, complement)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E6001 Neighboring gene casein kinase 2, alpha 1 polypeptide Neighboring gene STARR-seq mESC enhancer starr_06051 Neighboring gene STARR-seq mESC enhancer starr_06052 Neighboring gene STARR-positive B cell enhancer ABC_E10153 Neighboring gene TBC1 domain family, member 20 Neighboring gene STARR-positive B cell enhancer ABC_E11172 Neighboring gene STARR-seq mESC enhancer starr_06055 Neighboring gene tribbles pseudokinase 3 Neighboring gene predicted gene 14164 Neighboring gene ribosomal protein, large, P0 pseudogene

    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 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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. HOIL-1L deficiency induces cell cycle alteration which causes immaturity of skeletal muscle and cardiomyocytes.
      Title: HOIL-1L deficiency induces cell cycle alteration which causes immaturity of skeletal muscle and cardiomyocytes.
    2. HOIL1 Regulates Group 3 Innate Lymphoid Cells in the Colon and Protects against Systemic Dissemination, Colonic Ulceration, and Lethality from Citrobacter rodentium Infection.
      Title: HOIL1 Regulates Group 3 Innate Lymphoid Cells in the Colon and Protects against Systemic Dissemination, Colonic Ulceration, and Lethality from Citrobacter rodentium Infection.
    3. Mechanistic insights into the homo-dimerization of HOIL-1L and SHARPIN.
      Title: Mechanistic insights into the homo-dimerization of HOIL-1L and SHARPIN.
    4. Normal lymphocyte homeostasis and function in MALT1 protease-resistant HOIL-1 knock-in mice.
      Title: Normal lymphocyte homeostasis and function in MALT1 protease-resistant HOIL-1 knock-in mice.
    5. Glycogen synthase downregulation rescues the amylopectinosis of murine RBCK1 deficiency.
      Title: Glycogen synthase downregulation rescues the amylopectinosis of murine RBCK1 deficiency.
    6. HOIL1 regulates group 2 innate lymphoid cell numbers and type 2 inflammation in the small intestine.
      Title: HOIL1 regulates group 2 innate lymphoid cell numbers and type 2 inflammation in the small intestine.
    7. catalyses ester bond formation between ubiquitin and components of the Myddosome, indicating a role in regulating innate immunity
      Title: The E3 ligase HOIL-1 catalyses ester bond formation between ubiquitin and components of the Myddosome in mammalian cells.
    8. LUBAC-tethering motifs (LTMs) located N terminally to the UBL domains of HOIL-1L and SHARPIN heterodimerize and fold into a single globular domain.
      Title: Cooperative Domain Formation by Homologous Motifs in HOIL-1L and SHARPIN Plays A Crucial Role in LUBAC Stabilization.
    9. Data show that keratinocyte-specific deletion of ubiquitin-protein ligases HOIP, HOIL-1 (E-KO) and shank-interacting protein-like 1 protein (SHARPIN) results in severe dermatitis causing postnatal lethality.
      Title: LUBAC prevents lethal dermatitis by inhibiting cell death induced by TNF, TRAIL and CD95L.
    10. results demonstrate that both HOIP and HOIL-1 are essential LUBAC components and are required for embryogenesis by preventing aberrant cell death; furthermore, they reveal that when LUBAC and caspase-8 are absent, RIPK3 prevents RIPK1 from inducing embryonic lethality by causing defects in fetal haematopoiesis
      Title: LUBAC is essential for embryogenesis by preventing cell death and enabling haematopoiesis.
    Submit: New GeneRIF Correction See all GeneRIFs (16)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

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    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 double-stranded DNA binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein kinase C binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables ubiquitin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ubiquitin binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables ubiquitin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables ubiquitin ligase activator activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ubiquitin-protein transferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ubiquitin-protein transferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ubiquitin-protein transferase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in T cell receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in T cell receptor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in defense response to bacterium ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in defense response to bacterium ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of NF-kappaB transcription factor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of NF-kappaB transcription factor activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within negative regulation of necroptotic process IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in positive regulation of NF-kappaB transcription factor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of NF-kappaB transcription factor activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of canonical NF-kappaB signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of canonical NF-kappaB signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of canonical NF-kappaB signal transduction ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within positive regulation of extrinsic apoptotic signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of non-canonical NF-kappaB signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein linear polyubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein linear polyubiquitination ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein linear polyubiquitination ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein polyubiquitination IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein polyubiquitination ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in tumor necrosis factor-mediated signaling pathway TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of LUBAC complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of LUBAC complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of LUBAC complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of LUBAC complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    ranBP-type and C3HC4-type zinc finger-containing protein 1
    Names
    RING-type E3 ubiquitin transferase HOIL-1
    heme-oxidized IRP2 ubiquitin ligase 1 homolog
    novel zinc finger, C3HC4 type (RING finger) protein
    ubcM4-interacting protein 28
    ubiquitin-conjugating enzyme 7-interacting protein 3
    NP_001077390.1
    NP_001408174.1
    NP_001408175.1
    NP_001408176.1
    NP_001408177.1
    NP_001408178.1
    NP_001408179.1
    NP_001408180.1
    NP_001408181.1
    NP_001408182.1
    NP_001408183.1
    NP_062679.2

    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_001083921.2 → NP_001077390.1  ranBP-type and C3HC4-type zinc finger-containing protein 1 isoform a

      See identical proteins and their annotated locations for NP_001077390.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform (a). Variants 1 and 2 both encode the same isoform (a).
      Source sequence(s)
      AL831735, AL928568
      Consensus CDS
      CCDS38273.1
      UniProtKB/Swiss-Prot
      A2ANR4, Q3TM86, Q8C2I0, Q9WUB0
      Related
      ENSMUSP00000105473.3, ENSMUST00000109847.9
      Conserved Domains (4) summary
      cd01799
      Location:57 → 131
      Hoil1_N; Ubiquitin-like domain of HOIL1
      smart00547
      Location:195 → 215
      ZnF_RBZ; Zinc finger domain
      sd00029
      Location:195 → 214
      zf-RanBP2; RanBP2-type Zn finger [structural motif]
      pfam13445
      Location:280 → 322
      zf-RING_UBOX; RING-type zinc-finger

    2. NM_001421245.1 → NP_001408174.1  ranBP-type and C3HC4-type zinc finger-containing protein 1 isoform c

      Status: VALIDATED

      Source sequence(s)
      AL831735, AL928568

    3. NM_001421246.1 → NP_001408175.1  ranBP-type and C3HC4-type zinc finger-containing protein 1 isoform c

      Status: VALIDATED

      Source sequence(s)
      AL831735, AL928568

    4. NM_001421247.1 → NP_001408176.1  ranBP-type and C3HC4-type zinc finger-containing protein 1 isoform d

      Status: VALIDATED

      Source sequence(s)
      AL831735, AL928568

    5. NM_001421248.1 → NP_001408177.1  ranBP-type and C3HC4-type zinc finger-containing protein 1 isoform d

      Status: VALIDATED

      Source sequence(s)
      AL831735, AL928568

    6. NM_001421249.1 → NP_001408178.1  ranBP-type and C3HC4-type zinc finger-containing protein 1 isoform e

      Status: VALIDATED

      Source sequence(s)
      AL831735, AL928568

    7. NM_001421250.1 → NP_001408179.1  ranBP-type and C3HC4-type zinc finger-containing protein 1 isoform f

      Status: VALIDATED

      Source sequence(s)
      AL831735, AL928568

    8. NM_001421251.1 → NP_001408180.1  ranBP-type and C3HC4-type zinc finger-containing protein 1 isoform g

      Status: VALIDATED

      Source sequence(s)
      AL831735, AL928568

    9. NM_001421252.1 → NP_001408181.1  ranBP-type and C3HC4-type zinc finger-containing protein 1 isoform h

      Status: VALIDATED

      Source sequence(s)
      AL831735, AL928568

    10. NM_001421253.1 → NP_001408182.1  ranBP-type and C3HC4-type zinc finger-containing protein 1 isoform i

      Status: VALIDATED

      Source sequence(s)
      AL831735, AL928568

    11. NM_001421254.1 → NP_001408183.1  ranBP-type and C3HC4-type zinc finger-containing protein 1 isoform j

      Status: VALIDATED

      Source sequence(s)
      AL831735, AL928568

    12. NM_019705.4 → NP_062679.2  ranBP-type and C3HC4-type zinc finger-containing protein 1 isoform a

      See identical proteins and their annotated locations for NP_062679.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same isoform (a).
      Source sequence(s)
      AL831735, AL928568
      Consensus CDS
      CCDS38273.1
      UniProtKB/Swiss-Prot
      A2ANR4, Q3TM86, Q8C2I0, Q9WUB0
      Related
      ENSMUSP00000028964.8, ENSMUST00000028964.14
      Conserved Domains (4) summary
      cd01799
      Location:57 → 131
      Hoil1_N; Ubiquitin-like domain of HOIL1
      smart00547
      Location:195 → 215
      ZnF_RBZ; Zinc finger domain
      sd00029
      Location:195 → 214
      zf-RanBP2; RanBP2-type Zn finger [structural motif]
      pfam13445
      Location:280 → 322
      zf-RING_UBOX; RING-type zinc-finger

    RNA

    1. NR_185278.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL831735, AL928568

    2. NR_185279.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL831735, AL928568

    3. NR_185280.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL831735, AL928568

    4. NR_185281.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL831735, AL928568

    5. NR_185282.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL831735, AL928568

    6. NR_185283.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL831735, AL928568

    7. NR_185284.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL831735, AL928568

    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_000068.8 Reference GRCm39 C57BL/6J

      Range
      152158254..152174592 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9WUB0.2 GenPept UniProtKB/Swiss-Prot:Q9WUB0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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