Otulin OTU deubiquitinase with linear linkage specificity [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Otulinprovided by MGI
Official Full Name: OTU deubiquitinase with linear linkage specificityprovided by MGI
Primary source: MGI:MGI:3577015
See related: Ensembl:ENSMUSG00000046034 AllianceGenome:MGI:3577015
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: m3Sapc; Fam105b; m7-1Sapc
Summary: Enables cysteine-type deubiquitinase activity. Involved in several processes, including negative regulation of NF-kappaB transcription factor activity; protein linear deubiquitination; and regulation of signal transduction. Located in cytoplasm. Part of LUBAC complex. Is expressed in several structures, including branchial arch; cardiovascular system; genitourinary system; gut; and hemolymphoid system. Human ortholog(s) of this gene implicated in otulipenia and primary immunodeficiency disease. Orthologous to human OTULIN (OTU deubiquitinase with linear linkage specificity). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in spleen adult (RPKM 20.9), ovary adult (RPKM 16.5) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 15 B1; 15 10.31 cM

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	15	NC_000081.7 (27606005..27630793, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	15	NC_000081.6 (27597055..27630977, complement)

Chromosome 15 - NC_000081.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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?

OTULIN haploinsufficiency predisposes to environmentally directed inflammation.
Title: OTULIN haploinsufficiency predisposes to environmentally directed inflammation.
OTULIN protects the intestinal epithelium from apoptosis during inflammation and infection.
Title: OTULIN protects the intestinal epithelium from apoptosis during inflammation and infection.
OTULIN inhibits RIPK1-mediated keratinocyte necroptosis to prevent skin inflammation in mice.
Title: OTULIN inhibits RIPK1-mediated keratinocyte necroptosis to prevent skin inflammation in mice.
OTULIN maintains skin homeostasis by controlling keratinocyte death and stem cell identity.
Title: OTULIN maintains skin homeostasis by controlling keratinocyte death and stem cell identity.
OTULIN allies with LUBAC to govern angiogenesis by editing ALK1 linear polyubiquitin.
Title: OTULIN allies with LUBAC to govern angiogenesis by editing ALK1 linear polyubiquitin.
OTULIN protects the liver against cell death, inflammation, fibrosis, and cancer.
Title: OTULIN protects the liver against cell death, inflammation, fibrosis, and cancer.
OTULIN Prevents Liver Inflammation and Hepatocellular Carcinoma by Inhibiting FADD- and RIPK1 Kinase-Mediated Hepatocyte Apoptosis.
Title: OTULIN Prevents Liver Inflammation and Hepatocellular Carcinoma by Inhibiting FADD- and RIPK1 Kinase-Mediated Hepatocyte Apoptosis.
results indicate that OTULIN and LUBAC (linear ubiquitin chain assembly complex) function in a linear pathway, and highlight a previously unrecognized interaction between linear ubiquitination, regulators of cell death, and induction of type I interferon
Title: OTULIN limits cell death and inflammation by deubiquitinating LUBAC.
two distinct mutations in the (uro)chordate-specific gumby (also called Fam105b) gene cause an embryonic angiogenic phenotype in gumby mice
Title: The linear ubiquitin-specific deubiquitinase gumby regulates angiogenesis.

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Variation

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Alleles

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

Chemically induced (ENU) (3) 1 citation
Endonuclease-mediated (6) 1 citation
Targeted (5) 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 cysteine-type deubiquitinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables cysteine-type deubiquitinase activity	IDA Inferred from Direct Assay more info	PubMed
enables cysteine-type deubiquitinase activity	ISO Inferred from Sequence Orthology more info
enables cysteine-type peptidase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables cysteine-type peptidase activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in innate immune response	IBA Inferred from Biological aspect of Ancestor more info
involved_in innate immune response	ISO Inferred from Sequence Orthology more info
involved_in innate immune response	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of NF-kappaB transcription factor activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of NF-kappaB transcription factor activity	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of NF-kappaB transcription factor activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of inflammatory response	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of inflammatory response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of inflammatory response	ISO Inferred from Sequence Orthology more info
involved_in nucleotide-binding oligomerization domain containing 2 signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in nucleotide-binding oligomerization domain containing 2 signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein linear deubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein linear deubiquitination	ISO Inferred from Sequence Orthology more info
involved_in proteolysis	IEA Inferred from Electronic Annotation more info
involved_in regulation of canonical Wnt signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of tumor necrosis factor-mediated signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of tumor necrosis factor-mediated signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of tumor necrosis factor-mediated signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in sprouting angiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of LUBAC complex	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: ubiquitin thioesterase otulin

Names: OTU domain-containing deubiquitinase with linear linkage specificity; deubiquitinating enzyme otulin; family with sequence similarity 105, member B; gumby; protein FAM105B; ubiquitin thioesterase Gumby

NP_001013814.2

EC 3.4.19.12

NP_001402972.1

EC 3.4.19.12

NP_001402974.1

EC 3.4.19.12

NP_001402975.1

EC 3.4.19.12

NP_001402976.1

EC 3.4.19.12

NP_001402977.1

EC 3.4.19.12

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_001013792.3 → NP_001013814.2 ubiquitin thioesterase otulin isoform 1

See identical proteins and their annotated locations for NP_001013814.2

Status: VALIDATED

Source sequence(s)

AC158955

Consensus CDS

CCDS49586.1

UniProtKB/Swiss-Prot

Q3UCV8, Q3UY59, Q5M8N1, Q8R027

Related

ENSMUSP00000057893.8, ENSMUST00000059662.8

Conserved Domains (1) summary

pfam16218
Location:81 → 344

Peptidase_C101; Peptidase family C101
NM_001416043.1 → NP_001402972.1 ubiquitin thioesterase otulin isoform 2

Status: VALIDATED

Source sequence(s)

AC158955
NM_001416045.1 → NP_001402974.1 ubiquitin thioesterase otulin isoform 3

Status: VALIDATED

Source sequence(s)

AC158955
NM_001416046.1 → NP_001402975.1 ubiquitin thioesterase otulin isoform 3

Status: VALIDATED

Source sequence(s)

AC158955
NM_001416047.1 → NP_001402976.1 ubiquitin thioesterase otulin isoform 4

Status: VALIDATED

Source sequence(s)

AC158955
NM_001416048.1 → NP_001402977.1 ubiquitin thioesterase otulin isoform 4

Status: VALIDATED

Source sequence(s)

AC158955