UBA1 - ubiquitin like modifier activating enzyme 1 Gene

Also Known as A1S9; A1ST; GXP1; UBE1; A1S9T; AMCX1; POC20; SMAX2; UBA1A; UBE1X; VEXAS; CFAP124

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 7317

About UBA1

Cytogenetic location: Xp11.3 Genomic coordinates (GRCh38): X:47,190,847-47,215,128 (from NCBI)

Ubiquitous expression in thyroid (RPKM 27.6), brain (RPKM 26.8) and 25 other tissues.

Summary

The protein encoded by this gene catalyzes the first step in ubiquitin conjugation to MARK cellular proteins for degradation. This gene complements an X-linked mouse temperature-sensitive defect in DNA synthesis, and thus may function in DNA repair. It is part of a gene cluster on chromosome Xp11.23. Alternatively spliced transcript variants that encode the same protein have been described. [provided by RefSeq, Jul 2008]

UBA1 Products (2)

mRNA Protein Name
NM_003334.4 NP_003325.2 ubiquitin-like modifier-activating enzyme 1
NM_153280.3 NP_695012.1 ubiquitin-like modifier-activating enzyme 1

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Referencias Source
enables protein binding IPI
IPI: Inferred from physical interaction
16227972 GOA
enables ubiquitin activating enzyme activity IDA
IDA: Inferred from direct assay
12629039 GOA
enables ubiquitin activating enzyme activity IMP
IMP: Inferred from mutant phenotype
33108101 GOA
Biological Process GO Annotation Evidence Referencias Source
involved in DNA damage response IDA
IDA: Inferred from direct assay
22456334 GOA
Cellular Component GO Annotation Evidence Referencias Source
located in cytoplasm IDA
IDA: Inferred from direct assay
1376922 GOA
located in cytoplasm IMP
IMP: Inferred from mutant phenotype
33108101 GOA
colocalizes with desmosome IDA
IDA: Inferred from direct assay
1376922 GOA
colocalizes with endosome membrane IDA
IDA: Inferred from direct assay
1376922 GOA
colocalizes with heterochromatin IDA
IDA: Inferred from direct assay
1376922 GOA
colocalizes with lysosomal membrane IDA
IDA: Inferred from direct assay
1376922 GOA
located in mitochondrion IDA
IDA: Inferred from direct assay
1376922 GOA
located in nucleus IDA
IDA: Inferred from direct assay
1376922 GOA
located in nucleus IMP
IMP: Inferred from mutant phenotype
33108101 GOA
colocalizes with rough endoplasmic reticulum membrane IDA
IDA: Inferred from direct assay
1376922 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

UBA1 Protein Structure

ThiF

ThiF: ThiF family (72 - 198)

ThiF

ThiF: ThiF family (469 - 609)

UBA_e1_thiolCys

UBA_e1_thiolCys: Ubiquitin-activating enzyme active site (614 - 657)

(753 - 815)

(849 - 915)

E1_UFD

E1_UFD: Ubiquitin fold domain (922 - 1053)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1058 a.a.
Protein Preferred Names Protein Names

ubiquitin-like modifier-activating enzyme 1

  • A1S9T and BN75 temperature sensitivity complementing

UBA1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Referencias
Intra
UBA1 P22314 HTT Homo sapiens P42858
Validated Y2H
32814053
Intra
UBA1 P22314 HTT Homo sapiens P42858
Y2H Array
32814053
Intra
UBA1 P22314 HTT Homo sapiens P42858
Y2H Pooling
32814053
Intra
UBA1 P22314 GAN Homo sapiens Q9H2C0
Y2H
16227972
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant UBA1 Proteins

Referencia número Nombre del producto Accession Pureza
HY-P74485 UBA1 Protein, Human (sf9, His-GST) P22314 (S2-R1058) ≥ 90%, as determined by reducing SDS-PAGE.

UBA1 Antibodies

Referencia número Nombre del producto Aplicación Reactivity
HY-P80365 E1 Ubiquitin Activating Enzyme 1/UBA1 Antibody (YA020) WB, ICC/IF, IHC-P, FC Human, Mouse
HY-P82072 E1 Ubiquitin Activating Enzyme 1/UBA1 Antibody (YA1817) WB, IHC-P, ICC/IF, FC Human, Mouse, Rat

Related Diseases

Diseases Alias
Vexas Syndrome

  • VEXAS

  • Vexas Syndrome, Somatic

  • Vacuoles, E1 Enzyme, X-Linked, Autoinflammatory And Somatic Syndrome

  • Vacuoles, E1 Enzyme, X-Linked, Autoinflammatory, Somatic Syndrome

  • Vacuoles, E1 Enzyme, X-Linked, Autoinflammatory, Somatic
Spinal Muscular Atrophy, X-Linked 2

  • SMAX2

  • Arthrogryposis Multiplex Congenita, Distal, X-Linked

  • Infantile-Onset X-Linked Spinal Muscular Atrophy

  • Xlsma

  • Amcx1

  • Spinal Muscular Atrophy, X-Linked Lethal Infantile

  • Spinal Muscular Atrophy, Infantile X-Linked

  • Amc, Distal, X-Linked

  • Spinal Muscular Atrophy, X-Linked 2, Infantile

  • X-Linked Spinal Muscular Atrophy 2

  • Spinal Muscular Atrophy With Arthrogryposis

  • X-Linked Distal Arthrogryposis Multiplex Congenita

  • X-Linked Spinal Muscular Atrophy Type 2

  • Xl-Sma

  • Arthrogryposis, X-Linked, Type I

  • Spinal Muscular Atrophy, X-Linked Infantile

  • X-Linked Infantile Spinal Muscular Atrophy

  • Arthrogryposis, X-Lined, Type I

  • Distal X-Linked Amc

  • Infantile X-Linked Sma

  • X-Linked Arthrogryposis Multiplex Congenita

  • X-Linked Arthrogryposis Type I

  • X-Linked Lethal Infantile Sma

  • Arthrogryposis Spinal Muscular Atrophy

  • Spinal Muscular Atrophy X-Linked 2

  • Amc Distal X-Linked

  • Arthrogryposis Multiplex Congenita Distal X-Linked

  • Arthrogryposis X-Linked Type I

  • Spinal Muscular Atrophy Infantile X-Linked

  • Spinal Muscular Atrophy X-Linked Lethal Infantile

  • Atrophy, Muscular, Spinal, X-Linked, Type 2, Infantile
Chondromalacia

  • Chondromalacia, Unspecified Site

  • Chondromalacia Nos
Vasculitis

  • Angiitis

  • Autoimmune Vasculitis

  • Systemic Vasculitis

  • Vasculitis, Autoimmune
Spinal Muscular Atrophy

  • Sma

  • 5q Sma

  • Proximal Sma

  • Sma-Associated Sma

  • Spinal Amyotrophies

  • Spinal Amyotrophy

  • Spinal Muscle Degeneration

  • Spinal Muscle Wasting

  • Muscular Atrophy Spinal

  • Atrophy, Muscular, Spinal

  • Hereditary Motor Neuronopathy

  • Progressive Muscular Atrophy

  • Sma - [Spinal Muscular Atrophy]
Muscular Atrophy

  • Muscle Wasting

  • Amyotrophia

  • Wasting - Muscle

  • Skeletal Muscle Atrophy
Relapsing Polychondritis

  • Polychondropathia

  • Polychondritis, Relapsing

  • Chondromalacia, Systemic

  • Chronic Atrophic Polychondritis

  • Recurrent Polychondritis

  • Polychondritis Relapsing
Wallerian Degeneration

  • Wallerian Degeneration Of The Pyramidal Tract
Neutrophilic Dermatosis, Acute Febrile

  • Sweet Syndrome

  • Acute Febrile Neutrophilic Dermatosis

  • Ss

  • AFND

  • Pyrin-Associated Autoinflammatory Disease

  • PAAND

  • Gomm-Button Disease

  • Sweet'S Syndrome

  • Gomm Button Disease

  • Sweets Syndrome

  • Acromelic Frontonasal Dysostosis

  • Sweet Disease
Congenital Contractures

  • Congenital Contracture
Cartilage Disease

  • Cartilage Diseases

  • Cartilage

  • Cartilage Disorder

  • Chondropathy

  • Cartilage Disorders
Spinal Muscular Atrophy, Type I

  • Werdnig-Hoffmann Disease

  • SMA1

  • Spinal Muscular Atrophy 1

  • Sma I

  • Sma, Infantile Acute Form

  • Muscular Atrophy, Infantile

  • Spinal Muscular Atrophy-1

  • Hmn Proximal Type I

  • Infantile Muscular Atrophy

  • Proximal Spinal Muscular Atrophy Type 1

  • Sma Type 1

  • Sma Type I

  • Sma-I

  • Hereditary Motor Neuropathy Proximal Type I

  • Progressive Muscular Atrophy Of Infancy

  • Proximal Spinal Muscular Atrophy, Type 1

  • Werdnig Hoffmann Disease

  • Infantile Spinal Muscular Atrophy

  • Infantile-Onset Spinal Muscular Atrophy

  • Proximal Hereditary Motor Neuropathy Type I

  • Sma Infantile Acute Form

  • Spinal Muscular Atrophy Type I

  • Werdnig-Hoffman Disease

  • Atrophy, Muscular, Spinal, Type 1
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

  • Clinical Phase
  • Pre-clinical Phase

Clinical Phase

Bioactive Molecules (1)
Referencia número Nombre del producto Efecto
Pureza Phase
HY-100487 TAK-243 99.86% Phase 1

Pre-clinical Phase

Bioactive Molecules (6)
Referencia número Nombre del producto
Efecto
Pureza
Rare Diseases
HY-13297 PYZD-4409 Inhibitor 98.0% Unkown
HY-103436 NSC624206 Inhibitor 99.0% Unkown
HY-RS24221 Uba1 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS15319 UBA1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS17754 Uba1 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS19646 Uba2 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus UBA1 RGD RGD:1359327
Macaca mulatta UBA1 VGNC VGNC:78688
Felis catus UBA1 VGNC VGNC:66746
Mus musculus UBA1 MGD MGI:98890
Bos taurus UBA1 VGNC VGNC:36561
Canis familiaris UBA1 VGNC VGNC:48036
Others UBA1 NCBI