UBB - ubiquitin B Gene

Homo sapiens

Also known as HEL-S-50

Gene ID: 7314 | Gene type: protein coding

About UBB

Cytogenetic location: 17p11.2 Genomic coordinates (GRCh38): 17:16,380,779-16,382,745 (from NCBI)

This gene has 9 transcripts (splice variants), 101 orthologues, 10 paralogues and is associated with 4 phenotypes. Ubiquitous expression in liver (RPKM 498.1), testis (RPKM 495.1) and 25 other tissues.

Summary

This gene encodes ubiquitin, one of the most conserved proteins known. Ubiquitin has a major role in targeting cellular proteins for degradation by the 26S proteosome. It is also involved in the maintenance of chromatin structure, the regulation of gene expression, and the stress response. Ubiquitin is synthesized as a precursor protein consisting of either polyubiquitin chains or a single ubiquitin moiety fused to an unrelated protein. This gene consists of three direct repeats of the ubiquitin coding sequence with no spacer sequence. Consequently, the protein is expressed as a polyubiquitin precursor with a final amino acid after the last repeat. An aberrant form of this protein has been detected in patients with Alzheimer's disease and Down syndrome. Pseudogenes of this gene are located on chromosomes 1, 2, 13, and 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

UBB Products(6)

mRNA	Protein	Name
NM_001281716.2	NP_001268645.1	polyubiquitin-B precursor
NM_001281717.1	NP_001268646.1	polyubiquitin-B precursor
NM_001281718.1	NP_001268647.1	polyubiquitin-B precursor
NM_001281719.1	NP_001268648.1	polyubiquitin-B precursor
NM_001281720.2	NP_001268649.1	polyubiquitin-B precursor
NM_018955.4	NP_061828.1	polyubiquitin-B precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	14755250	GOA

Biological Process GO Annotation	Evidence	Reference	Source
acts upstream of or within mitochondrion transport along microtubule	IDA IDA: Inferred from direct assay	17571083	GOA
acts upstream of or within neuron projection morphogenesis	IMP IMP: Inferred from mutant phenotype	17571083	GOA
acts upstream of or within positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator	IDA IDA: Inferred from direct assay	17571083	GOA
involved in positive regulation of protein monoubiquitination	IMP IMP: Inferred from mutant phenotype	24660806	GOA
involved in positive regulation of protein ubiquitination	IDA IDA: Inferred from direct assay	24660806	GOA
acts upstream of or within regulation of mitochondrial membrane potential	IDA IDA: Inferred from direct assay	17571083	GOA
acts upstream of or within regulation of neuron apoptotic process	IDA IDA: Inferred from direct assay	17571083	GOA
acts upstream of or within regulation of proteasomal protein catabolic process	IDA IDA: Inferred from direct assay	17571083	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in mitochondrion	IDA IDA: Inferred from direct assay	17571083	GOA
located in neuron projection	IDA IDA: Inferred from direct assay	17571083	GOA
located in neuronal cell body	IDA IDA: Inferred from direct assay	17571083	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

UBB Protein Structure

ubiquitin

0
100
200
229 a.a.

Protein Preferred Names

Protein Names

polyubiquitin-B

epididymis secretory protein Li 50

Recombinant UBB Proteins

Cat. No.	Product Name	Accession	Purity
HY-P71101	UBB Protein, Human	P0CG47 (M153-G228)	≥95%

Related Diseases

Diseases

Alias

Cleft Hard Palate

Cleft Of Hard Palate

Hard Palate Perforation

Submucosal Cleft Palate

Cleft Soft Palate

Cleft Velum	Cleft Velum Palatinum
Soft Cleft Palate	Soft Palate Perforation

Uvula, Bifid

Bifid Uvula	Uvular Cleft
Uvula, Cleft	Bifidity Of The Uvula

Down Syndrome

Trisomy 21	Complete Trisomy 21 Syndrome
Down'S Syndrome	Trisomy 21 Syndrome
Down'S Syndrome - Trisomy 21	Downs Syndrome
G Trisomy	47,Xx,+21
47,Xy,+21	Trisomy G
Down Syndrome, Susceptibility To	Chromosome 21 Trisomy
Trisomy 21 Nos	Abnormal Autosomes 21

Middle East Respiratory Syndrome

Mers	Mers - [Middle East Respiratory Syndrome]

Myoclonic Epilepsy Of Lafora

Lafora Disease	Epilepsy, Progressive Myoclonic 2b
EPM2	Melf
Epilepsy, Progressive Myoclonic 2a	Epm2a
Lafora'S Disease	Lafora Body Disease
Lbd	Epilepsy, Progressive Myoclonic, 2a
Lafora Progressive Myoclonic Epilepsy	Epilepsy Progressive Myoclonic 2
Lafora Body Disorder	Pme Type 2
Progressive Myoclonic Epilepsy Type 2	Progressive Myoclonus Epilepsy Type 2
Epilepsy, Progressive Myoclonic 2	Epm2b
Ld	Progressive Myoclonic Epilepsy 2
Progressive Myoclonic Epilepsy 2a	Progressive Myoclonic Epilepsy 2b
Progressive Myoclonic Epilepsy Lafora Type	Epilepsy, Myoclonic, Of Lafora

Smith-Magenis Syndrome

SMS	Chromosome 17p11.2 Deletion Syndrome
17p11.2 Microdeletion Syndrome	17p11.2 Monosomy
Chromosome 17p Deletion Syndrome	Del(17)
P11.2	17p- Syndrome
Deletion 17p Syndrome	Partial Monosomy 17p

Encephalopathy, Familial, With Neuroserpin Inclusion Bodies

Familial Encephalopathy With Neuroserpin Inclusion Bodies	FENIB
Encephalopathy, Familial, With Collins Bodies	Familial Dementia With Neuroserpin Inclusion Bodies
Familial Encephalopathy With Collins Bodies

Alzheimer Disease, Familial, 1

Alzheimer Disease	Alzheimer'S Disease
Presenile And Senile Dementia	AD1
Alzheimer Disease, Susceptibility To	Alzheimer Disease, Late-Onset, Susceptibility To
Alzheimer Disease 1, Familial	AD
Familial Alzheimer Disease	Alzheimer Disease, Late-Onset
Alzheimers Dementia	Alzheimer Dementia
Alzheimer Sclerosis	Alzheimer Syndrome
Alzheimer-Type Dementia	Dat
Primary Senile Degenerative Dementia	Sdat
Alzheimer Disease 1	Autosomal Dominant Alzheimer Disease
Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy	Late Onset Alzheimer Disease
Alzheimers Disease	Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy
Late-Onset Alzheimers Disease	Alzheimer'S Disease Pathway Kegg
Dementia Due To Alzheimer'S Disease	Alzheimer Disease Type 1
Alzheimers

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis	ALS
Lou Gehrig Disease	Amyotrophic Lateral Sclerosis Type 1
Charcot Disease	ALS1
Amyotrophic Lateral Sclerosis, Susceptibility To	Fals
Lou Gehrig'S Disease	Mnd
Motor Neuron Disease	Familial Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 1, Familial	Amyotrophic Lateral Sclerosis 1, Autosomal Dominant
Motor Neuron Disease, Bulbar	Motor Neurone Disease
Amyotrophic Lateral Sclerosis With Dementia	Dementia With Amyotrophic Lateral Sclerosis
Motor Neuron Disease, Amyotrophic Lateral Sclerosis	Sclerosis, Lateral, Amyotrophic
Sclerosis, Lateral, Amyotrophic, Type 1	Amyotrophic Sclerosis
Als - [Amyotrophic Lateral Sclerosis]	Wasting Palsy
Amyotrophic Paralysis	Amyotrophy Lateral Sclerosis
Wasting Paralysis	Spinal Progressive Amyotrophy
Progressive Atrophic Paralysis

Pick Disease Of Brain

Pick Disease	Pick'S Disease
Pick Disease Of The Brain	Lobar Atrophy Of Brain
Dementia With Lobar Atrophy And Neuronal Cytoplasmic Inclusions	Behavioral Variant Of Frontotemporal Dementia
Dementia In Pick'S Disease	Lobar Atrophy Of The Brain
Bvftd	Bv-Ftd
PIDB	Picks Disease

Parkinson Disease, Late-Onset

Parkinson Disease	Parkinson'S Disease
PD	PARK
Parkinson Disease, Susceptibility To	Late Onset Parkinson'S Disease
Late Onset Parkinson Disease	Paralysis Agitans
Primary Parkinsonism	Idiopathic Parkinson Disease
Parkinson'S	Parkinson Disease, Late-Onset, Susceptibility To
Parkinson Disease, Age Of Onset, Modifier	Lewy Body Parkinson Disease
Idiopathic Parkinson'S Disease	Pd - [Parkinson Disease]
Parkinson Disease Nos	Parkinson, Nos
Primary Parkinson Disease

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-RS15333	UBB Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	UBB	RGD	RGD:621562
Macaca mulatta	UBB	VGNC	VGNC:99329
Canis familiaris	UBB	VGNC	VGNC:49664
Mus musculus	UBB	MGD	MGI:98888
Bos taurus	UBB	VGNC	VGNC:107281
Others	UBB	NCBI

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