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: Predicted to enable several functions, including protein kinase C binding activity; protein sequestering activity; and ubiquitin binding activity. Involved in positive regulation of I-kappaB kinase/NF-kappaB signaling; positive regulation of NIK/NF-kappaB signaling; and positive regulation of apoptotic process. Acts upstream of or within negative regulation of necroptotic process and positive regulation of extrinsic apoptotic signaling pathway. Predicted to be part of LUBAC complex. Is expressed in central nervous system and retina. 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, Apr 2022]
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; 2 G3

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
109	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (152158254..152174583, 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?

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.
HIF regulation of HOIL-1L targets the phosphorylated PKC-zeta for degradation and serves as an hypoxia-adaptive mechanism to stabilize the Na,K-ATPase, avoiding significant lung injury.
Title: HIF and HOIL-1L-mediated PKCζ degradation stabilizes plasma membrane Na,K-ATPase to protect against hypoxia-induced lung injury.
Study found that the NZF domain of SHARPIN, but not that of HOIL-1L, is critical for effective protection from programmed cell death by enhancing the recruitment of the linear ubiquitin chain assembly complex to the activated TNFR complex. HOIL-1l seems to be missing the K63-linked ubiquitin chains binding activity which appears to be involved in the recruitment.
Title: Differential Involvement of the Npl4 Zinc Finger Domains of SHARPIN and HOIL-1L in Linear Ubiquitin Chain Assembly Complex-Mediated Cell Death Protection.
Late in the NF-kappaB activation cycle HOIL1 cleavage transiently reduces linear ubiquitination, including of NEMO and RIP1, dampening NF-kappaB activation and preventing reactivation.
Title: The paracaspase MALT1 cleaves HOIL1 reducing linear ubiquitination by LUBAC to dampen lymphocyte NF-κB signalling.
These data provide first evidence of a mechanism of cancer cell adaptation to hypoxia where HIFs regulate HOIL-1L, which targets PKCzeta for degradation to promote tumor survival.
Title: HOIL-1L functions as the PKCζ ubiquitin ligase to promote lung tumor growth.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Variation

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Alleles

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

Targeted (6) 1 citation
Endonuclease-mediated (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Homology

Homologs of the Rbck1 gene: The Rbck1 gene is conserved in human, chimpanzee, Rhesus monkey, dog, cow, rat, zebrafish, and frog.
Orthologs from Annotation Pipeline: 377 organisms have orthologs with human gene Rbck1
Orthologs

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	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 protein sequestering activity	ISO Inferred from Sequence Orthology more info
enables transcription coactivator activity	ISO Inferred from Sequence Orthology more info
enables transferase activity	IEA Inferred from Electronic Annotation more info
enables ubiquitin binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables ubiquitin binding	ISO Inferred from Sequence Orthology more info
enables ubiquitin-protein transferase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables ubiquitin-protein transferase activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in T cell receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in cytoplasmic sequestering of protein	ISO Inferred from Sequence Orthology more info
involved_in defense response to bacterium	ISO Inferred from Sequence Orthology 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 I-kappaB kinase/NF-kappaB signaling	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in positive regulation of I-kappaB kinase/NF-kappaB signaling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of I-kappaB kinase/NF-kappaB signaling	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of NF-kappaB transcription factor activity	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of NIK/NF-kappaB signaling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
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 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	PubMed
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	PubMed
involved_in protein linear polyubiquitination	ISO Inferred from Sequence Orthology more info
involved_in protein polyubiquitination	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of LUBAC complex	IBA Inferred from Biological aspect of Ancestor more info	PubMed
part_of LUBAC complex	ISO Inferred from Sequence Orthology 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_001342211.1

EC 2.3.2.31

NP_062679.2

EC 2.3.2.31

XP_006499508.1

EC 2.3.2.31

XP_006499509.1

EC 2.3.2.31

XP_006499510.1

EC 2.3.2.31

XP_030106804.1

EC 2.3.2.31

XP_030106805.1

EC 2.3.2.31

XP_030106806.1

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_001083921.1 → 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 the longer isoform (a). Variants 1 and 2 both encode the same isoform (a).

Source sequence(s)

AI853834, AK085559, AK166075, CX238505

Consensus CDS

CCDS38273.1

UniProtKB/Swiss-Prot

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_001355282.1 → NP_001342211.1 ranBP-type and C3HC4-type zinc finger-containing protein 1 isoform b

Status: VALIDATED

Description

Transcript Variant: This variant (3) contains an alternate internal exon compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a.

Source sequence(s)

AL831735, AL928568

Conserved Domains (3) summary

smart00547
Location:45 → 65

ZnF_RBZ; Zinc finger domain

sd00029
Location:45 → 64

zf-RanBP2; RanBP2-type Zn finger [structural motif]

cd16633
Location:126 → 180

mRING-HC-C3HC3D_RBR_HOIL1; Modified RING finger, HC subclass (C3HC3D-type), found in heme-oxidized IRP2 ubiquitin ligase 1 (HOIL-1) and similar proteins
NM_019705.3 → 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)

AI853834, AK085559, AK166075, BY084037, BY267597

Consensus CDS

CCDS38273.1

UniProtKB/Swiss-Prot

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

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...

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

Reference GRCm39 C57BL/6J

Genomic

NC_000068.8 Reference GRCm39 C57BL/6J

Range

152158254..152174583 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030250945.1 → XP_030106805.1 ranBP-type and C3HC4-type zinc finger-containing protein 1 isoform X4

Conserved Domains (1) summary

cl17238
Location:159 → 185

RING_Ubox; The superfamily of RING finger (Really Interesting New Gene) domain and U-box domain
XM_006499446.2 → XP_006499509.1 ranBP-type and C3HC4-type zinc finger-containing protein 1 isoform X1

See identical proteins and their annotated locations for XP_006499509.1

Conserved Domains (4) summary

smart00547
Location:194 → 214

ZnF_RBZ; Zinc finger domain

sd00029
Location:194 → 213

zf-RanBP2; RanBP2-type Zn finger [structural motif]

cd16633
Location:275 → 329

mRING-HC-C3HC3D_RBR_HOIL1; Modified RING finger, HC subclass (C3HC3D-type), found in heme-oxidized IRP2 ubiquitin ligase 1 (HOIL-1) and similar proteins

cd01799
Location:52 → 132

Ubl_HOIL1; ubiquitin-like (Ubl) domain found in heme-oxidized IRP2 ubiquitin ligase 1 (HOIL-1) and similar proteins
XM_006499447.5 → XP_006499510.1 ranBP-type and C3HC4-type zinc finger-containing protein 1 isoform X2

Conserved Domains (4) summary

smart00547
Location:195 → 215

ZnF_RBZ; Zinc finger domain

sd00029
Location:195 → 214

zf-RanBP2; RanBP2-type Zn finger [structural motif]

cd01799
Location:53 → 133

Ubl_HOIL1; ubiquitin-like (Ubl) domain found in heme-oxidized IRP2 ubiquitin ligase 1 (HOIL-1) and similar proteins

pfam01485
Location:355 → 381

IBR; IBR domain, a half RING-finger domain
XM_030250944.2 → XP_030106804.1 ranBP-type and C3HC4-type zinc finger-containing protein 1 isoform X3

Conserved Domains (4) summary

smart00547
Location:194 → 214

ZnF_RBZ; Zinc finger domain

sd00029
Location:194 → 213

zf-RanBP2; RanBP2-type Zn finger [structural motif]

cd01799
Location:52 → 132

Ubl_HOIL1; ubiquitin-like (Ubl) domain found in heme-oxidized IRP2 ubiquitin ligase 1 (HOIL-1) and similar proteins

pfam01485
Location:354 → 380

IBR; IBR domain, a half RING-finger domain
XM_030250946.1 → XP_030106806.1 ranBP-type and C3HC4-type zinc finger-containing protein 1 isoform X4

Conserved Domains (1) summary

cl17238
Location:159 → 185

RING_Ubox; The superfamily of RING finger (Really Interesting New Gene) domain and U-box domain
XM_006499445.4 → XP_006499508.1 ranBP-type and C3HC4-type zinc finger-containing protein 1 isoform X1

See identical proteins and their annotated locations for XP_006499508.1

Conserved Domains (4) summary

smart00547
Location:194 → 214

ZnF_RBZ; Zinc finger domain

sd00029
Location:194 → 213

zf-RanBP2; RanBP2-type Zn finger [structural motif]

cd16633
Location:275 → 329

mRING-HC-C3HC3D_RBR_HOIL1; Modified RING finger, HC subclass (C3HC3D-type), found in heme-oxidized IRP2 ubiquitin ligase 1 (HOIL-1) and similar proteins

cd01799
Location:52 → 132

Ubl_HOIL1; ubiquitin-like (Ubl) domain found in heme-oxidized IRP2 ubiquitin ligase 1 (HOIL-1) and similar proteins