1. Gene
  2. UBA2 - ubiquitin like modifier activating enzyme 2 Gene

UBA2 - ubiquitin like modifier activating enzyme 2 Gene

Homo sapiens

Also known as ARX; SAE2; ACCES; HRIHFB2115

Gene ID: 10054 | Gene type: protein coding

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

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

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