2. Gene
  3. NUB1 - negative regulator of ubiquitin like proteins 1 Gene

NUB1 - negative regulator of ubiquitin like proteins 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as BS4; NUB1L; NYREN18

Gene ID: 51667 | Gene type: protein coding

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

NUB1 Protein Structure

UBA

UBA: UBA/TS-N domain (399 - 434)

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  • 500
  • 600
  • 639 a.a.
Protein Preferred Names Protein Names

NEDD8 ultimate buster 1

NEDD8 ultimate buster-1

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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS09650 NUB1 Human Pre-designed siRNA Set A Pre-designed Sets / 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