PPEF1 (protein phosphatase with EF-hand domain 1)

2003-11-01 Affiliation

Identity

HGNC

PPEF1

LOCATION

Xp22.13

LOCUSID

5475

ALIAS

PP7,PPEF,PPP7C,PPP7CA

FUSION GENES

Show Gene Fusions

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: 5475
MIM: 300109
HGNC: 9243
Ensembl: ENSG00000086717

Variants:

dbSNP: 5475
ClinVar: 5475
TCGA: ENSG00000086717
COSMIC: PPEF1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000086717	ENST00000349874	O14829
ENSG00000086717	ENST00000361511	O14829
ENSG00000086717	ENST00000361511	A0A024RBZ9
ENSG00000086717	ENST00000470157	H7C592
ENSG00000086717	ENST00000472826	C9JY08
ENSG00000086717	ENST00000496075	F8WC69

Expression (GTEx)

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

Pathway	Source	External ID
Signal Transduction	REACTOME	R-HSA-162582
Visual phototransduction	REACTOME	R-HSA-2187338
The phototransduction cascade	REACTOME	R-HSA-2514856
Inactivation, recovery and regulation of the phototransduction cascade	REACTOME	R-HSA-2514859

References

Pubmed ID	Year	Title	Citations
28051100	2017	Protein serine/threonine phosphatase PPEF-1 suppresses genotoxic stress response via dephosphorylation of PDCD5.	4
22292511	2012	Molecular cloning of a novel PPEF-1 gene variant from a T-cell lymphoblastic lymphoma cell line.	2

Citation

Dessen P

PPEF1 (protein phosphatase with EF-hand domain 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-11-01

Online version: http://atlasgeneticsoncology.org/gene/41796/ppef1