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
229914642012Mitochondrial ribonuclease P structure provides insight into the evolution of catalytic strategies for precursor-tRNA 5' processing.44
262759952015The PYRIN Domain-only Protein POP1 Inhibits Inflammasome Assembly and Ameliorates Inflammatory Disease.27
204530002010A Large-scale genetic association study of esophageal adenocarcinoma risk.23
167236592006Differential association of protein subunits with the human RNase MRP and RNase P complexes.21
210530452011Viperin mRNA is a novel target for the human RNase MRP/RNase P endoribonuclease.15
215095942011Differential expression of a set of genes in follicular and classic variants of papillary thyroid carcinoma.6
273807342016Further evidence of POP1 mutations as the cause of anauxetic dysplasia.2
280674122017Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia.2
258396532015Crystal structure of human POP1 and its distinct structural feature for PYD domain.1

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/pop1