OTUD5 - OTU deubiquitinase 5 Gene

Homo sapiens

Also known as DUBA; MCAND

Gene ID: 55593 | Gene type: protein coding

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09874	OTUD5 Human Pre-designed siRNA Set A		/	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

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