2. Gene
  3. UBA52 - ubiquitin A-52 residue ribosomal protein fusion product 1 Gene

UBA52 - ubiquitin A-52 residue ribosomal protein fusion product 1 Gene

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

Also known as L40; CEP52; RPL40; HUBCEP52

Gene ID: 7311 | Gene type: protein coding

About UBA52

Cytogenetic location: 19p13.11 Genomic coordinates (GRCh38): 19:18,563,766-18,577,550 (from NCBI)

This gene has 14 transcripts (splice variants), 210 orthologues and 10 paralogues. Ubiquitous expression in ovary (RPKM 89.0), bone marrow (RPKM 83.5) and 25 other tissues.

Summary

Ubiquitin is a highly conserved nuclear and cytoplasmic protein that has a major role in targeting cellular proteins for degradation by the 26S proteosome. It is also involved in the maintenance of chromatin structure, the regulation of gene expression, and the stress response. Ubiquitin is synthesized as a precursor protein consisting of either polyubiquitin chains or a single ubiquitin moiety fused to an unrelated protein. This gene encodes a fusion protein consisting of ubiquitin at the N terminus and ribosomal protein L40 at the C terminus, a C-terminal extension protein (CEP). Multiple processed pseudogenes derived from this gene are present in the genome. [provided by RefSeq, Jul 2008]

UBA52 Products(8)

mRNA Protein Name
NM_001033930.3 NP_001029102.1 ubiquitin-60S ribosomal protein L40 isoform 1 precursor
NM_001321017.2 NP_001307946.1 ubiquitin-60S ribosomal protein L40 isoform 1 precursor
NM_001321018.2 NP_001307947.1 ubiquitin-60S ribosomal protein L40 isoform 1 precursor
NM_001321019.2 NP_001307948.1 ubiquitin-60S ribosomal protein L40 isoform 1 precursor
NM_001321020.2 NP_001307949.1 ubiquitin-60S ribosomal protein L40 isoform 1 precursor
NM_001321021.1 NP_001307950.1 ubiquitin-60S ribosomal protein L40 isoform 2
NM_001321022.2 NP_001307951.1 ubiquitin-60S ribosomal protein L40 isoform 3
NM_003333.5 NP_003324.1 ubiquitin-60S ribosomal protein L40 isoform 1 precursor
Gene Ontology
  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
15147878 GOA
enables structural constituent of ribosome IDA
IDA: Inferred from direct assay
23636399 GOA
Cellular Component GO Annotation Evidence Reference Source
part of cytosolic large ribosomal subunit IDA
IDA: Inferred from direct assay
32669547 GOA
part of cytosolic large ribosomal subunit IPI
IPI: Inferred from physical interaction
25901680 GOA
located in cytosolic ribosome IDA
IDA: Inferred from direct assay
23636399 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

UBA52 Protein Structure

ubiquitin

ubiquitin: Ubiquitin family (6 - 74)

Ribosomal_L40e

Ribosomal_L40e: Ribosomal L40e family (78 - 128)

  • 0
  • 100
  • 128 a.a.
Protein Preferred Names Protein Names

ubiquitin-60S ribosomal protein L40

ubiquitin carboxyl extension protein 52

Related Diseases

Diseases Alias
Atrial Septal Defect 3

ASD3

Atrial Heart Septal Defect 3

Septal Defect, Atrial, Type 3
Stomatitis
Myoclonic Epilepsy Of Lafora

Lafora Disease

Epilepsy, Progressive Myoclonic 2b

EPM2

Melf

Epilepsy, Progressive Myoclonic 2a

Epm2a

Lafora'S Disease

Lafora Body Disease

Lbd

Epilepsy, Progressive Myoclonic, 2a

Lafora Progressive Myoclonic Epilepsy

Epilepsy Progressive Myoclonic 2

Lafora Body Disorder

Pme Type 2

Progressive Myoclonic Epilepsy Type 2

Progressive Myoclonus Epilepsy Type 2

Epilepsy, Progressive Myoclonic 2

Epm2b

Ld

Progressive Myoclonic Epilepsy 2

Progressive Myoclonic Epilepsy 2a

Progressive Myoclonic Epilepsy 2b

Progressive Myoclonic Epilepsy Lafora Type

Epilepsy, Myoclonic, Of Lafora
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-RS15323 UBA52 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris UBA52 VGNC VGNC:59398
Felis catus UBA52 VGNC VGNC:97676
Bos taurus UBA52 VGNC VGNC:49988
Mus musculus UBA52 MGD MGI:98887
Rattus norvegicus UBA52 RGD RGD:68344