2. Gene
  3. UBA1 - ubiquitin like modifier activating enzyme 1 Gene

UBA1 - ubiquitin like modifier activating enzyme 1 Gene

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

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

Gene ID: 7317 | Gene type: protein coding

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

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)

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  • 1058 a.a.
Protein Preferred Names Protein Names

ubiquitin-like modifier-activating enzyme 1

A1S9T and BN75 temperature sensitivity complementing

Recombinant UBA1 Proteins

Cat. No. Product Name Accession Purity
HY-P74485 UBA1 Protein, Human (sf9, His-GST) P22314 (S2-R1058) ≥95%

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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Phase
HY-100487 TAK-243 98.38% Phase 1
Pre-clinical Phase
Bioactive Molecules (4)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-13297 PYZD-4409 Inhibitor ≥98.0% Unkown
HY-152266 Ubiquitination-IN-2 Inhibitor / Unkown
HY-RS15319 UBA1 Human Pre-designed siRNA Set A / Unkown
HY-103436 NSC624206 Inhibitor / 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