OTUD6B - OTU deubiquitinase 6B Gene

Homo sapiens

Also known as DUBA5; CGI-77; DUBA-5; IDDFSDA

Gene ID: 51633 | Gene type: protein coding

About OTUD6B

Cytogenetic location: 8q21.3 Genomic coordinates (GRCh38): 8:91,070,344-91,087,093 (from NCBI)

This gene has 6 transcripts (splice variants), 199 orthologues, 5 paralogues and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 6.6), testis (RPKM 5.6) and 25 other tissues.

Summary

This gene encodes a member of the ovarian tumor domain (OTU)-containing subfamily of deubiquitinating Enzymes. Deubiquitinating Enzymes are primarily involved in removing ubiquitin from proteins targeted for degradation. This protein may function as a negative regulator of the cell cycle in B cells. [provided by RefSeq, Nov 2013]

OTUD6B Products(2)

mRNA	Protein	Name
NM_001286745.3	NP_001273674.1	deubiquitinase OTUD6B isoform 2
NM_016023.5	NP_057107.4	deubiquitinase OTUD6B isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables cysteine-type deubiquitinase activity	IDA IDA: Inferred from direct assay	21267069	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	28514442	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in cell population proliferation	IDA IDA: Inferred from direct assay	27864334	GOA
involved in negative regulation of translation	IMP IMP: Inferred from mutant phenotype	27864334	GOA
involved in positive regulation of translation	IMP IMP: Inferred from mutant phenotype	27864334	GOA
involved in proteasome assembly	IMP IMP: Inferred from mutant phenotype	28343629	GOA
involved in protein deubiquitination	IDA IDA: Inferred from direct assay	21267069	GOA
involved in protein deubiquitination	IMP IMP: Inferred from mutant phenotype	27864334	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of eukaryotic translation initiation factor 4F complex	IDA IDA: Inferred from direct assay	27864334	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

OTUD6B Protein Structure

OTU

0
100
192 a.a.

Protein Preferred Names

Protein Names

deubiquitinase OTUD6B

OTU domain containing 6B

Related Diseases

Diseases

Alias

Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies

IDDFSDA

Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome

Epilepsy

Epilepsy Syndrome	Epileptic Syndrome
Epilepsies	Symptomatic Epilepsies
Post Traumatic Epilepsy	Traumatic Epilepsy
Traumatic Epileptic	Epilepsy Due To Hippocampal Sclerosis
Epilepsy With Ammon'S Horn Sclerosis	Epilepsy Due To Cortical Dysplasia
Epilepsy Due To Neuronal Migration Disorders

Retinitis Pigmentosa 88

RP88	Retinitis Pigmentosa, Type 88

Kaufman Oculocerebrofacial Syndrome

KOS	Blepharophimosis-Ptosis-Intellectual Disability Syndrome
Oculocerebrofacial Syndrome, Kaufman Type	Bpids
Blepharophimosis Ptosis Intellectual Disability Syndrome	Blepharophimosis-Ptosis-Intellectual Disability Syndrome
Severe Intellectual Disability, Microcephaly, Long Narrow Face, Ocular Anomalies, And Long Thin Hands And Feet	Bpid Syndrome

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Syndromic Intellectual Disability

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-RS09875	OTUD6B Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	OTUD6B	MGD	MGI:1919451
Felis catus	OTUD6B	VGNC	VGNC:81704
Rattus norvegicus	OTUD6B	RGD	RGD:1310024
Macaca mulatta	OTUD6B	VGNC	VGNC:82085
Bos taurus	OTUD6B	VGNC	VGNC:32498
Canis familiaris	OTUD6B	VGNC	VGNC:44189
Others	OTUD6B	NCBI

Name
Email *

	Sorry, but the email address you supplied was invalid.