POP1 (POP1 homolog, ribonuclease P/MRP subunit)

2011-04-01  

Identity

HGNC
POP1
LOCATION
8q22.2
LOCUSID
10940
ALIAS
ANXD2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 10940
MIM: 602486
HGNC: 30129
Ensembl: ENSG00000104356

Variants:

dbSNP: 10940
ClinVar: 10940
TCGA: ENSG00000104356
COSMIC: POP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000104356ENST00000349693Q99575
ENSG00000104356ENST00000401707Q99575
ENSG00000104356ENST00000522319E5RK39

Expression (GTEx)

0
5
10
15
20
25
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
RNA transportKEGGko03013
RNA transportKEGGhsa03013
Ribosome biogenesis in eukaryotesKEGGko03008
Ribosome biogenesis in eukaryotesKEGGhsa03008
Gene ExpressionREACTOMER-HSA-74160
tRNA processingREACTOMER-HSA-72306
tRNA processing in the nucleusREACTOMER-HSA-6784531

References

Pubmed IDYearTitleCitations
370104292023POP1 promotes the progression of breast cancer through maintaining telomere integrity.1
370104292023POP1 promotes the progression of breast cancer through maintaining telomere integrity.1
360849482022Clinical significance for diagnosis and prognosis of POP1 and its potential role in breast cancer: a comprehensive analysis based on multiple databases.4
362259292022POP1 inhibits MSU-induced inflammasome activation and ameliorates gout.7
360849482022Clinical significance for diagnosis and prognosis of POP1 and its potential role in breast cancer: a comprehensive analysis based on multiple databases.4
362259292022POP1 inhibits MSU-induced inflammasome activation and ameliorates gout.7
321341832020The novel R211Q POP1 homozygous mutation causes different pathogenesis and skeletal changes from those of previously reported POP1-associated anauxetic dysplasia.1
321341832020The novel R211Q POP1 homozygous mutation causes different pathogenesis and skeletal changes from those of previously reported POP1-associated anauxetic dysplasia.1
280674122017Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia.6
280674122017Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia.6
273807342016Further evidence of POP1 mutations as the cause of anauxetic dysplasia.7
273807342016Further evidence of POP1 mutations as the cause of anauxetic dysplasia.7
258396532015Crystal structure of human POP1 and its distinct structural feature for PYD domain.3
262759952015The PYRIN Domain-only Protein POP1 Inhibits Inflammasome Assembly and Ameliorates Inflammatory Disease.66
258396532015Crystal structure of human POP1 and its distinct structural feature for PYD domain.3

Citation

Dessen P

POP1 (POP1 homolog, ribonuclease P/MRP subunit)

Atlas Genet Cytogenet Oncol Haematol. 2011-04-01

Online version: http://atlasgeneticsoncology.org/gene/52184/favicon/gene-fusions-explorer/js/lib/zoomerang.js