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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	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	Reference	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	Reference	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

UBA_e1_thiolCys

UAE_UbL

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15320	UBA2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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

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