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NUB1 - negative regulator of ubiquitin like proteins 1 Gene

Also Known as BS4; NUB1L; NYREN18

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 51667

About NUB1

Cytogenetic location: 7q36.1 Genomic coordinates (GRCh38): 7:151,341,812-151,378,449 (from NCBI)

This gene has 12 transcripts (splice variants) and 211 orthologues. Ubiquitous expression in lymph node (RPKM 24.3), testis (RPKM 24.2) and 25 other tissues.

Summary

This gene encodes a protein that functions as a negative regulator of NEDD8, a ubiquitin-like protein that conjugates with cullin family members in order to regulate vital biological events. The protein encoded by this gene regulates the NEDD8 conjugation system post-transcriptionally by recruiting NEDD8 and its conjugates to the Proteasome for degradation. This protein interacts with the product of the AIPL1 gene, which is associated with Leber congenital amaurosis, an inherited retinopathy, and mutations in that gene can abolish interaction with this protein, which may contribute to the pathogenesis. This protein is also known to accumulate in Lewy bodies in Parkinson's disease and dementia with Lewy bodies, and in glial cytoplasmic inclusions in multiple system atrophy, with this abnormal accumulation being specific to alpha-synucleinopathy lesions. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]

NUB1 Products (8)

mRNA	Protein	Name
NM_001243351.2	NP_001230280.2	NEDD8 ultimate buster 1 isoform 1
NM_001363529.2	NP_001350458.1	NEDD8 ultimate buster 1 isoform 1
NM_001385353.1	NP_001372282.1	NEDD8 ultimate buster 1 isoform 2
NM_001385354.1	NP_001372283.1	NEDD8 ultimate buster 1 isoform 4
NM_001385355.1	NP_001372284.1	NEDD8 ultimate buster 1 isoform 4
NM_001385356.1	NP_001372285.1	NEDD8 ultimate buster 1 isoform 5
NM_001385361.1	NP_001372290.1	NEDD8 ultimate buster 1 isoform 5
NM_016118.5	NP_057202.4	NEDD8 ultimate buster 1 isoform 2

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Références	Source
enables protein binding	IPI IPI: Inferred from physical interaction	12374762	GOA

Biological Process GO Annotation	Evidence	Références	Source
involved in positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IMP IMP: Inferred from mutant phenotype	16707496	GOA
involved in protein ubiquitination	IMP IMP: Inferred from mutant phenotype	16707496	GOA
involved in response to tumor necrosis factor	IEP IEP: Inferred from expression pattern	16707496	GOA
involved in response to type II interferon	IEP IEP: Inferred from expression pattern	16707496	GOA
involved in ubiquitin-dependent protein catabolic process	IMP IMP: Inferred from mutant phenotype	16707496	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

NUB1 Protein Structure

UBA

0
100
200
300
400
500
600
639 a.a.

Protein Preferred Names	Protein Names
NEDD8 ultimate buster 1	NEDD8 ultimate buster-1

NUB1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Intra	NUB1	Q9Y5A7	SF3B4	Homo sapiens	Q15427	Y2H Array	25416956
Intra	NUB1	Q9Y5A7	SF3B4	Homo sapiens	Q15427	Y2H Prey Pooling	25416956
Intra	NUB1	Q9Y5A7	SF3B4	Homo sapiens	Q15427	Validated Y2H	25416956
Intra	NUB1	Q9Y5A7	AIPL1	Homo sapiens	Q9NZN9	Y2H	12374762
Intra	NUB1	Q9Y5A7	TERF1	Homo sapiens	P54274	Pull Down	27214791
Intra	NUB1	Q9Y5A7	TERF1	Homo sapiens	P54274	IF	27214791

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Strabismic Amblyopia	Suppression Amblyopia Amblyopia Amblyopia, Suppression
Bartter Syndrome, Type 4a, Neonatal, With Sensorineural Deafness	Bsnd Sensorineural Deafness With Mild Renal Dysfunction Bartter Disease Type 4a BARTS4A Bartter Syndrome, Type 4a Bartter Syndrome Type 4 Bartter Syndrome, Neonatal, With Sensorineural Deafness Bartter Syndrome With Sensorineural Deafness Bartter Syndrome Type 4a Neonatal Bartter Syndrome With Sensorineural Deafness Bartter Syndrome Type Iv Bartter Syndrome With Sensorineural Hearing Loss Bartter Syndrome 4a, Neonatal, With Sensorineural Deafness Hyperprostanglandin E Syndrome 4 Hypokalemic Alkalosis With Hypercalciuria Antenatal 4 Infantile Bartter Syndrome With Sensorineural Deafness
Hordeolum	Stye Boil Of Eyelid Furuncle Of Eyelid Hordeolum Externum
Leber Plus Disease	Leber Congenital Amaurosis Lca Leber'S Amaurosis Leber'S Disease Amaurosis Congenita Of Leber Amaurosis Congenita Of Leber, Type 1 Lhon Plus Disease Congenital Absence Of The Rods And Cones Congenital Retinal Blindness Crb Congenital Amaurosis Of Retinal Origin Leber'S Congenital Amaurosis Leber Congenital Amaurosis 1 Leber'S Congenital Tapetoretinal Degeneration Leber'S Congenital Tapetoretinal Dysplasia Lca1 Leber Congenital Amaurosis Type 1 Retinal Blindness, Congenital Amaurosis, Leber Congenital Dysgenesis Neuroepithelialis Retinae Hereditary Epithelial Dysplasia Of Retina Hereditary Retinal Aplasia Heredoretinopathia Congenitalis Leber Abiotrophy Leber Congenital Tapetoretinal Degeneration Lebers Congenital Amaurosis Optic Atrophy, Hereditary, Leber
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2	Spinal Muscular Atrophy, Jerash Type DSMA2 Neuropathy, Distal Hereditary Motor, Jerash Type Hmnj Autosomal Recessive Distal Spinal Muscular Atrophy 2 Neuronopathy, Distal Hereditary Motor, Jerash Type Distal Spinal Muscular Atrophy 2 Dhmnj Hereditary Motor Neuropathy, Jerash Type Motor Neuropathy, Distal, Jerash Type Distal Hereditary Motor Neuropathy, Jerash Type Distal Hereditary Motor Neuropathy Jerash Type Spinal Muscular Atrophy Jerash Type Mndj Autosomal Recessive Distal Spinal Muscular Atrophy Type 2 Distal Spinal Muscular Atrophy, Autosomal Recessive, 2 Atrophy, Muscular, Spinal, Distal, Autosomal Recessive, Type 2

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 (1)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS09650	NUB1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	NUB1	MGD	MGI:1889001
Rattus norvegicus	NUB1	RGD	RGD:1359489
Felis catus	NUB1	VGNC	VGNC:63908
Macaca mulatta	NUB1	VGNC	VGNC:75421
Bos taurus	NUB1	VGNC	VGNC:32314
Canis familiaris	NUB1	VGNC	VGNC:44016
Others	NUB1	NCBI