UBE3B - ubiquitin protein ligase E3B Gene

Homo sapiens

Also known as KOS; BPIDS

Gene ID: 89910 | Gene type: protein coding

About UBE3B

Cytogenetic location: 12q24.11 Genomic coordinates (GRCh38): 12:109,477,634-109,547,829 (from NCBI)

This gene has 13 transcripts (splice variants), 208 orthologues, 24 paralogues and is associated with 4 phenotypes. Ubiquitous expression in thyroid (RPKM 7.7), testis (RPKM 7.5) and 25 other tissues.

Summary

The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: E1 ubiquitin-activating enzymes, E2 ubiquitin-conjugating enzymes, and E3 ubiquitin-protein ligases. This gene encodes a member of the E3 ubiquitin-conjugating Enzyme family which accepts ubiquitin from an E2 ubiquitin-conjugating Enzyme and transfers the ubiquitin to the targeted substrates. A HECT (homology to E6-AP C-terminus) domain in the C-terminus of the longer isoform of this protein is the catalytic site of ubiquitin transfer and forms a complex with E2 conjugases. Shorter isoforms of this protein which lack the C-terminal HECT domain are therefore unlikely to bind E2 Enzymes. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2012]

UBE3B Products(5)

mRNA	Protein	Name
NM_001270449.2	NP_001257378.1	ubiquitin-protein ligase E3B isoform 3
NM_001270450.2	NP_001257379.1	ubiquitin-protein ligase E3B isoform 3
NM_001270451.2	NP_001257380.1	ubiquitin-protein ligase E3B isoform 3
NM_130466.4	NP_569733.2	ubiquitin-protein ligase E3B isoform 1
NM_183415.3	NP_904324.1	ubiquitin-protein ligase E3B isoform 1

UBE3B Protein Structure

HECT

0
200
400
600
800
1000
1068 a.a.

Protein Preferred Names

Protein Names

ubiquitin-protein ligase E3B

HECT-type ubiquitin transferase E3B

Related Diseases

Diseases

Alias

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

Blepharophimosis

Ptosis

Blepharoptosis	Drooping Eyelid
Droopy Eyelid	Ptosis Of Eyelid
Paralysis Of Levator Palpebrae Superioris

Pylorospasm

Spastic Paraplegia 36, Autosomal Dominant

SPG36	Hereditary Spastic Paraplegia 36
Autosomal Dominant Spastic Paraplegia Type 36	Autosomal Dominant Spastic Paraplegia 36

Subvalvular Aortic Stenosis

Fixed Subaortic Stenosis	Subaortic Stenosis
Aortic Stenosis, Subvalvular

Ohdo Syndrome

Young Simpson Syndrome	Ohdo Blepharophimosis Syndrome
Blepharophimosis Syndrome Ohdo Type	Blepharophimosis Intellectual Disability Syndromes
Bmrs	Blepharophimosis-Intellectual Disability Syndrome
Mental Retardation, Congenital Heart Disease, Blepharophimosis, Blepharoptosis, And Hypoplastic Teeth	Sbbys Syndrome
Say Barber Biesecker Young-Simpson Syndrome	Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Bmrs, Ohdo Type	Blepharophimosis Syndrome, Ohdo Type
Ohdo-Madokoro-Sonoda Syndrome	Blepharophimosis - Intellectual Disability Syndrome, Ohdo Type
Blepharophimosis - Intellectual Disability Syndrome

Dubowitz Syndrome

Dubowitz'S Syndrome	Dwarfism-Eczema-Peculiar Facies Syndrome
Intrauterine Growth Restriction, Short Stature, Microcephaly, Mild Intellectual Disability With Behavior Problems, Eczema, And Unusual And Distinctive Faci

Orofaciodigital Syndrome V

OFD5	Thurston Syndrome
Orofaciodigital Syndrome 5	Polydactyly, Postaxial, With Median Cleft Of Upper Lip
Ofds V	Oral-Facial-Digital Syndrome, Type V
Orofaciodigital Syndrome, Thurston Type	Orofaciodigital Syndrome Thurston Type
Oral-Facial-Digital Syndrome 5	Polydactyly Postaxial With Median Cleft Of Upper Lip
Ofd Syndrome 5	Ofds 5
Oral Facial Digital Syndrome 5	Oral Facial Digital Syndrome Type 5
Orofaciodigital Syndrome Type 5	Oral-Facial-Digital Syndrome Type 5
Papillon-Leage And Psaume Syndrome	Orofaciodigital Syndrome, Type V

Deafness, Autosomal Dominant 25

DFNA25	Autosomal Dominant Nonsyndromic Deafness 25
Autosomal Dominant Deafness 25	Deafness, Autosomal Dominant, 25
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 25	Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 25
Deafness, Autosomal Dominant, Type 25

Non-Syndromic X-Linked Intellectual Disability 103

Mrx103

X-Linked Mental Retardation 103

Eyelid Disease

Eyelid Diseases

Eyelid Disorders

Ataxia, Sensory, 1, Autosomal Dominant

Autosomal Dominant Sensory Ataxia 1	SNAX1
Adsa	Ataxia, Sensory, Type 1, Autosomal Dominant
Ataxia, Sensory, Autosomal Dominant

Methylmalonic Aciduria, Cblb Type

Methylmalonic Aciduria Cblb Type	Methylmalonic Acidemia Cblb Type
Methylmalonic Aciduria, Vitamin B12-Responsive, Due To Defect In Synthesis Of Adenosylcobalamin, Cblb Complementation Type	Methylmalonic Acidemia, Cblb Type
Methylmalonic Aciduria, Vitamin B12-Responsive, Due To Defect In Synthesis Of Adenosylcobalamin, Cblb Type	Methylmalonic Aciduria, Vitamin B12-Responsive, Cblb Type
Vitamin B12-Responsive Methylmalonic Acidemia Type Cblb	Vitamin B12-Responsive Methylmalonic Aciduria, Type Cblb
Methylmalonic Aciduria Type Cblb	MMAB
Methylmalonic Aciduria Type B	Vitamin B12 Responsive Methylmalonic Acidemia Type Cbl B
Vitamin B12 Responsive Methylmalonic Aciduria Type Cbl B	Aciduria, Methylmalonic, Cblb Type
Methylmalonic Acidemia	Methylmalonic Aciduria

Gordon Holmes Syndrome

Cerebellar Ataxia And Hypogonadotropic Hypogonadism	Lhrh Deficiency And Ataxia
Cerebellar Ataxia-Hypogonadism Syndrome	GDHS
Cahh	Luteinizing Hormone-Releasing Hormone Deficiency With Ataxia
Gordon-Holmes Syndrome	Deficiency Of Luteinizing Hormone-Releasing Hormone With Ataxia
Luteinizing Hormone-Releasing Hormone, Deficiency Of, With Ataxia	Cerebellar Ataxia - Hypogonadism
Luteinizing Hormone Releasing Hormone, Deficiency Of With Ataxia	Ataxia, Cerebellar, And Hypogonadotropic Hypogonadism

Neuronopathy, Distal Hereditary Motor, Type Iid

HMN2D	Hmn Iid
Dhmn2d	Distal Hereditary Motor Neuronopathy Type 2d
Distal Hereditary Motor Neuropathy Type Iid	Neuronopathy, Distal Hereditary Motor, Type 2d
Neuropathy, Distal Hereditary Motor, Type Iid	Spinal Muscular Atrophy, Distal, Autosomal Dominant, Calf-Predominant
Distal Spinal Muscular Atrophy With Calf Predominance	Neuronopathy, Distal Hereditary Motor, 2d
Autosomal Dominant Spinal Muscular Atrophy Distal Calf-Predominant	Dhmn Iid
Neuropathy, Motor, Distal, Hereditary, Type 2d

Syndromic X-Linked Intellectual Disability Turner Type

Mental Retardation, X-Linked Syndromic, Turner Type	Intellectual Disability, X-Linked Syndromic, Turner Type
Brooks-Wisniewski-Brown Syndrome	Mental Retardation And Macrocephaly Syndrome
Mrxst	X-Linked Intellectual Disability, Brooks Type
Mental Retardation, X-Linked, Syndromic, Turner Type

Ohdo Syndrome, Sbbys Variant

Say-Barber-Biesecker-Young-Simpson Syndrome	SBBYSS
Young-Simpson Syndrome	Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Yss	Sbbys Variant Of Ohdo Syndrome
Blepharophimosis - Intellectual Disability Syndrome, Sbbys Type	Young Simpson Syndrome
Sbbyss Syndrome	Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant
Blepharophimosis And Mental Retardation Syndrome, Say-Barber/Biesecker/Young-Simpson Type	Blepharophimosis-Intellectual Deficit Syndrome, Say-Barber/Biesecker/Young-Simpson Type
Bmrs Sbbys	Ohdo Syndrome, Say-Barber-Biesecker Variant
Say-Barber-Biesecker-Young-Simpson Variant Of Ohdo Syndrome	Hypothyroidism-Dysmorphism-Postaxial Polydactyly-Intellectual Disability Syndrome
Say-Barber-Biesecker Variant Of Ohdo Syndrome

Syndromic Intellectual Disability

Brunner Syndrome

Monoamine Oxidase A Deficiency	Antisocial Behavior
BRNRS	Deficiency Of Monoamine Oxidase A
X-Linked Monoamine Oxidase Deficiency	Susceptibility To Antisocial Behavior
Antisocial Behavior, Susceptibility To	Anti-Social Behavior

Scapuloperoneal Spinal Muscular Atrophy

SPSMA	Amyotrophy, Neurogenic Scapuloperoneal, New England Type
Neurogenic Scapuloperoneal Amyotrophy, New England Type	Scapuloperoneal Neuronopathy
Spinal Muscular Atrophy, Scapuloperoneal	Amyotrophy Neurogenic Scapuloperoneal New England Type
Muscular Atrophy, Spinal	Scapuloperoneal Form Of Spinal Muscular Atrophy

Laryngomalacia

Congenital Laryngomalacia	Congenital Laryngeal Stridor
Laryngomalacia Congenital	Floppy Epiglottis

Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome

Door Syndrome	Doors Syndrome
Digitorenocerebral Syndrome	Autosomal Recessive Deafness-Onychodystrophy Syndrome
Deafness-Onychoosteodystrophy-Intellectual Disability Syndrome	DOORS
Drc Syndrome	Eronen Syndrome
Deafness-Onychodystrophy-Osteodystrophy-Intellectual Disability Syndrome	Brachydactyly Due To Absence Of Distal Phalanges
Deafness-Onychodystrophy-Osteodystrophy-Intellectual Disability-Seizures Syndrome	Deafness, Onychodystrophy, Osteodystrophy, And Mental Retardation Syndrome
Deafness-Oncychodystrophy-Osteodystrophy-Intellectual Disability Syndrome	Autosomal Recessive Hearing Loss-Onychodystrophy Syndrome
Hearing Loss-Onychodystrophy-Osteodystrophy-Intellectual Disability Syndrome	Hearing Loss-Onychodystrophy-Osteodystrophy-Intellectual Disability-Seizures Syndrome
Hearing Loss-Onychoosteodystrophy-Intellectual Disability Syndrome	Deafness, Onychodystrophy, Osteodystrophy, Intellectual Disability, And Seizures Syndrome
Deafness, Congenital Onychodystrophy, Recessive Form	Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation Syndrome

Cohen Syndrome

Pepper Syndrome	COH1
Hypotonia, Obesity, And Prominent Incisors	Coh
Chs1, Formerly	Norio Syndrome
Obesity-Hypotonia Syndrome	Prominent Incisors-Obesity-Hypotonia Syndrome
Chs1	Hypotonia-Obesity-Prominent Incisors
Stage 4s Neuroblastoma

Microcephaly

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

Distal Hereditary Motor Neuronopathy Type 2

Distal Hereditary Motor Neuropathy, Type Ii	Distal Hereditary Motor Neuropathy Type 2
Distal Hereditary Motor Neuropathy Type Ii	Hmn Ii
Hmn2	Distal Hereditary Motor Neuronopathy, Type Ii
Distal Spinal Muscular Atrophy Type 2	Dhmn2
Dsma2	Neuropathy, Motor, Distal, Hereditary, Type Ii
Spinal Muscular Atrophy, Jerash Type

Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability	Non-Specific X-Linked Mental Retardation
X-Linked Non-Specific Intellectual Disability

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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-RS15369	UBE3B Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	UBE3B	VGNC	VGNC:66768
Bos taurus	UBE3B	VGNC	VGNC:36600
Mus musculus	UBE3B	MGD	MGI:1891295
Rattus norvegicus	UBE3B	RGD	RGD:1583074
Macaca mulatta	UBE3B	VGNC	VGNC:78925
Canis familiaris	UBE3B	VGNC	VGNC:48069

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