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FLASH GENE

Symbol

PGAP3

contributors: mct - updated : 11-03-2014

HGNC name	post-GPI attachment to proteins 3
HGNC id	23719

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	HPMRS4 hyperphosphatasia with mental retardation syndrome 4
Location	17q12      Physical location : 37.827.375 - 37.844.310
Synonym name	CAB2 protein
	per1-like domain containing 1
	COS16 homolog
	gene coamplified with ERBB2 protein
Synonym symbol(s)	CAB2, PP1498, AGLA546, MGC9753, PERLD1, UNQ546/PRO1100

DNA

TYPE	functioning gene
SPECIAL FEATURE	component of a cluster
text	clustered with PPP1R1B, STARD3, TCAP, PNMT, ERBB2 and GRB7 genes within the 120-kb region
STRUCTURE	16.94 kb     8 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_033419 8 - 2708 NP_219487 - 320 - 2002 1246045

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 Lymphoid/Immune thymus         Nervous brain basal nuclei caudate nucleus     Reproductive male system prostate       Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone

cells

System Cell Pubmed Species Stage Rna symbol Reproductive epithelial cell

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal six-cysteine domain
	an N-glycosylation site

HOMOLOGY

interspecies

homolog to yeast Cos16

intraspecies

homolog to CABP2

Homologene

FAMILY

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,organelle,Golgi

basic FUNCTION	is required for GPI-phospholipase A2 activity and involved in lipid remodeling of GPI-anchored proteins
	PGAP3-dependent fatty acid remodeling of GPI-APs has a significant role in the control of autoimmunity, possibly by the regulation of apoptotic cell clearance and Th1/Th2 balance
	required for the repair of DNA double-strand breaks
	involved in GPI-anchor maturation
	responsible for the modification of the fatty acid residues on the GPI anchor in a maturation process that occurs in the ER and Golgi

CELLULAR PROCESS

nucleotide, repair

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

HPMRS4

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral   amplification     breast and gastric cancer

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS