UBA2 - ubiquitin like modifier activating enzyme 2 Gene

Also Known as ARX; SAE2; ACCES; HRIHFB2115

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 10054

About UBA2

Cytogenetic location: 19q13.11 Genomic coordinates (GRCh38): 19:34,428,381-34,471,251 (from NCBI)

This gene has 10 transcripts (splice variants), 200 orthologues and 9 paralogues. Ubiquitous expression in testis (RPKM 52.1), fat (RPKM 42.8) and 25 other tissues.

Summary

Posttranslational modification of proteins by the addition of the small protein SUMO (see SUMO1; MIM 601912), or sumoylation, regulates protein structure and intracellular localization. SAE1 (MIM 613294) and UBA2 form a heterodimer that functions as a SUMO-activating enzyme for the sumoylation of proteins (Okuma et al., 1999 [PubMed 9920803]).[supplied by OMIM, Mar 2010]

UBA2 Products (2)

mRNA Protein Name
NM_001411139.1 NP_001398068.1 SUMO-activating enzyme subunit 2 isoform 2
NM_005499.3 NP_005490.1 SUMO-activating enzyme subunit 2 isoform 1
Molecular Function GO Annotation Evidence References Source
enables ATP binding IMP
IMP: Inferred from mutant phenotype
15660128 GOA
contributes to SUMO activating enzyme activity IDA
IDA: Inferred from direct assay
10187858 GOA
enables SUMO activating enzyme activity IDA
IDA: Inferred from direct assay
20164921 GOA
enables SUMO binding IPI
IPI: Inferred from physical interaction
15660128 GOA
enables magnesium ion binding IMP
IMP: Inferred from mutant phenotype
15660128 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
10187858 GOA
enables protein heterodimerization activity IPI
IPI: Inferred from physical interaction
20164921 GOA
enables small protein activating enzyme binding IPI
IPI: Inferred from physical interaction
15660128 GOA
enables ubiquitin-like protein conjugating enzyme binding IPI
IPI: Inferred from physical interaction
15660128 GOA
Biological Process GO Annotation Evidence References Source
involved in positive regulation of protein sumoylation IDA
IDA: Inferred from direct assay
10187858 GOA
involved in protein sumoylation IDA
IDA: Inferred from direct assay
20164921 GOA
involved in protein sumoylation IMP
IMP: Inferred from mutant phenotype
15660128 GOA
Cellular Component GO Annotation Evidence References Source
part of SUMO activating enzyme complex IDA
IDA: Inferred from direct assay
10187858 GOA
part of SUMO activating enzyme complex IPI
IPI: Inferred from physical interaction
15660128 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

UBA2 Protein Structure

ThiF

ThiF: ThiF family (19 - 150)

UBA_e1_thiolCys

UBA_e1_thiolCys: Ubiquitin-activating enzyme active site (154 - 198)

(344 - 408)

UAE_UbL

UAE_UbL: Ubiquitin/SUMO-activating enzyme ubiquitin-like domain (451 - 538)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 600
  • 640 a.a.
Protein Preferred Names Protein Names

SUMO-activating enzyme subunit 2

  • SUMO-1 activating enzyme subunit 2

UBA2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
UBA2 Q9UBT2 SUMO1P1 Homo sapiens G2XKQ0 25416956
Intra
UBA2 Q9UBT2 SUMO1P1 Homo sapiens G2XKQ0 25416956
Intra
UBA2 Q9UBT2 MEOX2 Homo sapiens Q6FHY5 32296183
Intra
UBA2 Q9UBT2 MEOX2 Homo sapiens Q6FHY5 32296183
Intra
UBA2 Q9UBT2 SAE1 Homo sapiens Q9UBE0 28514442
Intra
UBA2 Q9UBT2 SAE1 Homo sapiens Q9UBE0 15660128
Intra
UBA2 Q9UBT2 SAE1 Homo sapiens Q9UBE0 16189514
Intra
UBA2 Q9UBT2 SAE1 Homo sapiens Q9UBE0 33961781
Intra
UBA2 Q9UBT2 SUMO1 Homo sapiens P63165 32296183
Intra
UBA2 Q9UBT2 SUMO1 Homo sapiens P63165 20164921
Intra
UBA2 Q9UBT2 SUMO1 Homo sapiens P63165 20164921
Intra
UBA2 Q9UBT2 SUMO1 Homo sapiens P63165 32296183
Intra
UBA2 Q9UBT2 SUMO1 Homo sapiens P63165 25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

UBA2 Antibodies

Cat. No. Product Name Application Reactivity
HY-P82584 UBA2 Antibody (YA2329) WB, IHC-P, ICC/IF, IP Human, Mouse, Rat
HY-P82584A UBA2 Antibody (YA2329)(PBS only) WB, IHC-P, ICC/IF, IP Human, Mouse, Rat

Related Diseases

Diseases Alias
Aplasia Cutis Congenita, Nonsyndromic
  • ACC

  • Congenital Defect Of Skull And Scalp

  • Acces Syndrome

  • Nonsyndromic Aplasia Cutis Congenita

  • Scalp Defect, Congenital

  • ACCES

  • Aplasia Cutis Congenita With Ectrodactyly Skeletal Syndrome

  • Congenital Absence Of Skin On Scalp

  • Congenital Defect Of The Skull And Scalp

  • Congenital Ulcer Of The Newborn

  • Scalp Defect Congenital

  • Aplasia Cutis Congenita, Non-Syndromic

  • Congenital Scalp Defect

  • Aplasia Cutis Congenita

Chromosome 19q13.11 Deletion Syndrome, Distal
Chromosome 19q13.11 Deletion Syndrome
  • 19q13.11 Microdeletion Syndrome

  • Monosomy 19q13.11

  • Del(19)(Q13.11)

Prolidase Deficiency
  • Hyperimidodipeptiduria

  • Imidodipeptidase Deficiency

  • Peptidase Deficiency

  • PD

  • Deficiency Of Prolidase

  • Imidodipeptiduria

  • Proline Dipeptidase Deficiency

Xeroderma Pigmentosum, Complementation Group C
  • Xeroderma Pigmentosum, Group C

  • XPC

  • Xpcc

  • Xeroderma Pigmentosum Iii

  • Xp3

  • Xeroderma Pigmentosum Group C

  • Xp Group C

  • Xp, Group C

  • Xeroderma Pigmentosum, Type 3

  • Xeroderma Pigmentosum Complementation Group C

  • XP-C

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

Orthologs Information

Species Symbol Source ID
Rattus norvegicus UBA2 RGD RGD:1312023
Bos taurus UBA2 VGNC VGNC:36562
Felis catus UBA2 VGNC VGNC:66747
Mus musculus UBA2 MGD MGI:1858313
Canis familiaris UBA2 VGNC VGNC:48037
Macaca mulatta UBA2 VGNC VGNC:97838
Others UBA2 NCBI