OTUD5 - OTU deubiquitinase 5 Gene

Also Known as DUBA; MCAND

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 55593

About OTUD5

Cytogenetic location: Xp11.23 Genomic coordinates (GRCh38): X:48,922,024-48,958,381 (from NCBI)

This gene has 7 transcripts (splice variants), 197 orthologues, 5 paralogues and is associated with 1 phenotype. Ubiquitous expression in brain (RPKM 16.1), spleen (RPKM 14.4) and 25 other tissues.

Summary

This gene encodes a member of the OTU (ovarian tumor) domain-containing cysteine protease superfamily. The OTU domain confers Deubiquitinase activity and the encoded protein has been shown to suppress the type I interferon-dependent innate immune response by cleaving the polyubiquitin chain from an essential type I interferon adaptor protein. Cleavage results in disassociation of the adaptor protein from a downstream signaling complex and disruption of the type I interferon signaling cascade. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Oct 2008]

OTUD5 Products (4)

mRNA	Protein	Name
NM_001136157.2	NP_001129629.1	OTU domain-containing protein 5 isoform b
NM_001136158.2	NP_001129630.1	OTU domain-containing protein 5 isoform b
NM_001136159.2	NP_001129631.1	OTU domain-containing protein 5 isoform c
NM_017602.4	NP_060072.1	OTU domain-containing protein 5 isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables K48-linked deubiquitinase activity	IDA IDA: Inferred from direct assay	22245969	GOA
enables K48-linked deubiquitinase activity	IMP IMP: Inferred from mutant phenotype	33523931	GOA
enables K63-linked deubiquitinase activity	EXP EXP: Inferred from Experiment	17991829	GOA
enables K63-linked deubiquitinase activity	IDA IDA: Inferred from direct assay	22245969	GOA
enables K63-linked deubiquitinase activity	IMP IMP: Inferred from mutant phenotype	33523931	GOA
enables cysteine-type deubiquitinase activity	IDA IDA: Inferred from direct assay	22245969	GOA
enables deubiquitinase activity	IDA IDA: Inferred from direct assay	22245969	GOA
enables deubiquitinase activity	IMP IMP: Inferred from mutant phenotype	33110214	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in negative regulation of canonical Wnt signaling pathway	IMP IMP: Inferred from mutant phenotype	33110214	GOA
involved in neural crest cell differentiation	IMP IMP: Inferred from mutant phenotype	33523931	GOA
involved in positive regulation of TORC1 signaling	IMP IMP: Inferred from mutant phenotype	33110214	GOA
involved in positive regulation of TORC2 signaling	IMP IMP: Inferred from mutant phenotype	33110214	GOA
involved in protein K48-linked deubiquitination	IDA IDA: Inferred from direct assay	22245969	GOA
involved in protein K48-linked deubiquitination	IMP IMP: Inferred from mutant phenotype	33523931	GOA
involved in protein K63-linked deubiquitination	IDA IDA: Inferred from direct assay	22245969	GOA
involved in protein K63-linked deubiquitination	IMP IMP: Inferred from mutant phenotype	33523931	GOA
acts upstream of or within protein deubiquitination	IDA IDA: Inferred from direct assay	22245969	GOA
involved in response to lipopolysaccharide	IDA IDA: Inferred from direct assay	22245969	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in nucleus	IDA IDA: Inferred from direct assay	33523931	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

OTUD5 Protein Structure

OTU

0
100
200
300
400
500
571 a.a.

Protein Preferred Names	Protein Names
OTU domain-containing protein 5	OTU domain containing 5

Related Diseases

Diseases	Alias
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	MCAND Linked Syndrome Linkage-Specific Deubiquitylation Deficiency-Induced Embryonic Defects
Neurodegeneration With Brain Iron Accumulation 5	NBIA5 Beta-Propeller Protein-Associated Neurodegeneration Bpan Static Encephalopathy Of Childhood With Neurodegeneration In Adulthood Senda Neurodegeneration With Brain Iron Accumulation Type 5 Neurodegeneration With Brain Iron Accululation 5 Static Encephalopathy Of Childhood With Neurdegeneration In Adulthood Neurodegeneration, With Brain Iron Accululation, Type 5
Hydrocephalus	Hydrocephalus, Nonsyndromic, Autosomal Recessive Hydrocephalus, X-Linked Hydrocephalus Adverse Event Hydrocephaly Nos
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09874	OTUD5 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19225	Otud5 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25714	Otud5 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	OTUD5	MGD	MGI:1859615
Canis familiaris	OTUD5	VGNC	VGNC:44187
Rattus norvegicus	OTUD5	RGD	RGD:1563027
Macaca mulatta	OTUD5	VGNC	VGNC:75677
Bos taurus	OTUD5	VGNC	VGNC:32496
Felis catus	OTUD5	VGNC	VGNC:64001
Others	OTUD5	NCBI