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

Summary

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

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_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
Mechanistic insights into the homo-dimerization of HOIL-1L and SHARPIN.
Title: Mechanistic insights into the homo-dimerization of HOIL-1L and SHARPIN.
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.
Glycogen synthase downregulation rescues the amylopectinosis of murine RBCK1 deficiency.
Title: Glycogen synthase downregulation rescues the amylopectinosis of murine RBCK1 deficiency.
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.
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.
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.
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.
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)

Endonuclease-mediated (7) 1 citation
Targeted (8) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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	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	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

EC 2.3.2.31

NP_001408174.1

EC 2.3.2.31

NP_001408175.1

EC 2.3.2.31

NP_001408176.1

EC 2.3.2.31

NP_001408177.1

EC 2.3.2.31

NP_001408178.1

EC 2.3.2.31

NP_001408179.1

EC 2.3.2.31

NP_001408180.1

EC 2.3.2.31

NP_001408181.1

EC 2.3.2.31

NP_001408182.1

EC 2.3.2.31

NP_001408183.1

EC 2.3.2.31

NP_062679.2

EC 2.3.2.31

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)

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
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
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
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
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
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
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
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
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
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
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
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

NR_185278.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AL831735, AL928568
NR_185279.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AL831735, AL928568
NR_185280.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AL831735, AL928568
NR_185281.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AL831735, AL928568
NR_185282.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AL831735, AL928568
NR_185283.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AL831735, AL928568
NR_185284.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AL831735, AL928568