POMP (proteasome maturation protein)

2014-07-01  

Identity

HGNC
LOCATION
13q12.3
LOCUSID
ALIAS
C13orf12,HSPC014,PNAS-110,PRAAS2,UMP1
FUSION GENES

Other Information

Locus ID:

NCBI: 51371
MIM: 613386
HGNC: 20330
Ensembl: ENSG00000132963

Variants:

dbSNP: 51371
ClinVar: 51371
TCGA: ENSG00000132963
COSMIC: POMP

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000132963ENST00000380842Q9Y244
ENSG00000132963ENST00000460403A0A1W2PS02

Expression (GTEx)

0
50
100
150
200
250
300

Pathways

PathwaySourceExternal ID
ProteasomeKEGGko03050
ProteasomeKEGGhsa03050

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
179480262007The proteasome maturation protein POMP facilitates major steps of 20S proteasome formation at the endoplasmic reticulum.33
261451752015MicroRNA-101 Suppresses Tumor Cell Proliferation by Acting as an Endogenous Proteasome Inhibitor via Targeting the Proteasome Assembly Factor POMP.29
264835482015The Nuclear Factor (Erythroid-derived 2)-like 2 and Proteasome Maturation Protein Axis Mediate Bortezomib Resistance in Multiple Myeloma.25
298050432018Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome.17
202264372010A single-nucleotide deletion in the POMP 5' UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosis.15
166244032006Possible tetramerisation of the proteasome maturation factor POMP/proteassemblin/hUmp1 and its subcellular localisation.9
240804462013Genetic modifiers of menopausal hormone replacement therapy and breast cancer risk: a genome-wide interaction study.9
222352972012siRNA silencing of proteasome maturation protein (POMP) activates the unfolded protein response and constitutes a model for KLICK genodermatosis.5
266159822016MCM3AP and POMP Mutations Cause a DNA-Repair and DNA-Damage-Signaling Defect in an Immunodeficient Child.3

Citation

Dessen P

POMP (proteasome maturation protein)

Atlas Genet Cytogenet Oncol Haematol. 2014-07-01

Online version: http://atlasgeneticsoncology.org/gene/54050/pomp