Identity
HGNC
LOCATION
13q12.3
LOCUSID
ALIAS
C13orf12,HSPC014,PNAS-110,PRAAS2,UMP1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 51371
MIM: 613386
HGNC: 20330
Ensembl: ENSG00000132963
Variants:
dbSNP: 51371
ClinVar: 51371
TCGA: ENSG00000132963
COSMIC: POMP
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000132963 | ENST00000380842 | Q9Y244 |
| ENSG00000132963 | ENST00000460403 | A0A1W2PS02 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Proteasome | KEGG | ko03050 |
| Proteasome | KEGG | hsa03050 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 32123008 | 2020 | NRF3-POMP-20S Proteasome Assembly Axis Promotes Cancer Development via Ubiquitin-Independent Proteolysis of p53 and Retinoblastoma Protein. | 20 |
| 32425927 | 2020 | KLICK Syndrome Linked to a POMP Mutation Has Features Suggestive of an Autoinflammatory Keratinization Disease. | 5 |
| 32123008 | 2020 | NRF3-POMP-20S Proteasome Assembly Axis Promotes Cancer Development via Ubiquitin-Independent Proteolysis of p53 and Retinoblastoma Protein. | 20 |
| 32425927 | 2020 | KLICK Syndrome Linked to a POMP Mutation Has Features Suggestive of an Autoinflammatory Keratinization Disease. | 5 |
| 31687947 | 2019 | NEW GENETIC MARKERS ASSOCIATED WITH SUSCEPTIBILITY TO EXFOLIATION SYNDROME AMONG GEORGIAN POPULATION. | 0 |
| 31687947 | 2019 | NEW GENETIC MARKERS ASSOCIATED WITH SUSCEPTIBILITY TO EXFOLIATION SYNDROME AMONG GEORGIAN POPULATION. | 0 |
| 29805043 | 2018 | Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome. | 70 |
| 29805043 | 2018 | Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome. | 70 |
| 28728908 | 2017 | The proteasome maturation protein POMP increases proteasome assembly and activity in psoriatic lesional skin. | 8 |
| 28728908 | 2017 | The proteasome maturation protein POMP increases proteasome assembly and activity in psoriatic lesional skin. | 8 |
| 26615982 | 2016 | MCM3AP and POMP Mutations Cause a DNA-Repair and DNA-Damage-Signaling Defect in an Immunodeficient Child. | 9 |
| 26615982 | 2016 | MCM3AP and POMP Mutations Cause a DNA-Repair and DNA-Damage-Signaling Defect in an Immunodeficient Child. | 9 |
| 26145175 | 2015 | MicroRNA-101 Suppresses Tumor Cell Proliferation by Acting as an Endogenous Proteasome Inhibitor via Targeting the Proteasome Assembly Factor POMP. | 44 |
| 26483548 | 2015 | The Nuclear Factor (Erythroid-derived 2)-like 2 and Proteasome Maturation Protein Axis Mediate Bortezomib Resistance in Multiple Myeloma. | 40 |
| 26145175 | 2015 | MicroRNA-101 Suppresses Tumor Cell Proliferation by Acting as an Endogenous Proteasome Inhibitor via Targeting the Proteasome Assembly Factor POMP. | 44 |
Citation
Dessen P
POMP (proteasome maturation protein)
Atlas Genet Cytogenet Oncol Haematol. 2014-07-01
Online version: http://atlasgeneticsoncology.org/gene/54050/pomp-(proteasome-maturation-protein)
