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FLASH GENE

Symbol

PPEF1

contributors: mct - updated : 16-04-2019

HGNC name	protein phosphatase, EF hand calcium-binding domain 1
HGNC id	9243

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	Xp22.13      Physical location : 18.709.044 - 18.846.032
Synonym symbol(s)	PPEF, PP7, PPP7C, PPP7CA
EC.number	3.1.3.16

DNA

TYPE	functioning gene
STRUCTURE	152.01 kb     19 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_006240 19 - 2873 NP_006231 - 653 - 2017 28051100 variant 1a - - 2712 136 501 - 2017 28051100 a shorter N terminus compared to isoform 1 NM_152224 19 - 2789 NP_689410 136 625 - 2017 28051100 variant 1b lacks an internal segment variant 2 - - 2544 136 376 - 2017 28051100 has a shorter and distinct C terminus NM_152226 18 - 2687 NP_689412 136 591 - 2017 28051100 PPEF-1V - - 2135 57.8 501 - 2012 22292511 is a 350bp deletion in the nucleotide sequence of PPEF1 from 128-477bp and a 152-amino-acid N-terminal deletion in the amino acid sequence of PPEF1 could be a potential target for diagnosis or treatment of T-cell lymphoblastic lymphoma

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Nervous brain         Reproductive female system uterus cervix       male system testis

cell lineage	sensory neurons of neural crest origin
cell lines
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	protein phosphatase with helix- loop- helix
	EF calcium binding domains
	one IQ domain

HOMOLOGY

interspecies	homolog to Drosophila retinal degeneration C (rdgc)
	homolog to murine Ppef1

Homologene

FAMILY

PPP phosphatase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus

basic FUNCTION	serine-threonine phosphatase activity
	playing a role in specific sensory neuron function and/or development
	PPEF1 plays a pivotal role in tumorigenesis of lung cancer cells by reducing PDCD5-mediated genotoxic stress responses

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule	metal binding,
	Mg2+
	Mn2+

protein	PPEF1 interacts with and dephosphorylates PDCD5 at Ser-119, which leads to PDCD5 destabilization
	PPEF1 suppressed TP53-mediated genotoxic stress response via negative regulation of PDCD5

cell & other

REGULATION

Phosphorylated by

CSNK2A1 at Ser119, which is required for nuclear translocation in response to genotoxic stress

Other

regulated by calcium

ASSOCIATED DISORDERS

ANIMAL & CELL MODELS