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FLASH GENE

Symbol

PIGK

contributors: - updated : 25-08-2020

HGNC name	phosphatidylinositol glycan, class K
HGNC id	8965

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	NEDHCAS neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures
Location	1p31.1      Physical location : 77.554.668 - 77.685.132
Synonym symbol(s)	GPI8, HGPI8, MGC22559

DNA

TYPE	functioning gene
STRUCTURE	130.44 kb     11 Exon(s)

Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study

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_005482 11 - 4601 NP_005473 - 395 - 2020 32220290

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic erythroid Blood/Hematopoietic granulocyte Lymphoid/Immune lymphocyte

cell lineage	hematopoietic stem cell
cell lines
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal caspase-like domain forms a disulfide-linked dimer, which is strengthened by N-glycosylation
	a signal peptide a peptidase C13 domain,a transmembrane segment

HOMOLOGY

interspecies

homolog to yeast GPI8

Homologene

FAMILY

peptidase family C13

CATEGORY

enzyme

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

basic FUNCTION	glycosylphosphatidyl inositol transamidase,final step in GPI donnors anchoring in which preassembled GPI are subtituted for C terminal signal sequences in nascent polypeptides
	is responsible for the protein-GPI anchoring reaction
	component of the GPI transamidase complex, which attaches the GPI anchor to proteins

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

complexing with PIGS and PIGT and GPAA1

INTERACTION

DNA

RNA

small molecule

protein	associated with GPAA1 for GPI anchor attachment
	GPI8 functions dually to perform the proteolytic cleavage of the C-terminal signal sequence of the precursor protein, followed by the formation of an amide bond between the protein and the ethanolamine phosphate of the GPI
	inadequate protein-GPI anchoring caused by suppression of PIGK might affect the expression or function of some GPI-APs associated with tyrosinase activity
	PIGT, PIGU, and GPAA1 may form a core complex associated by PIGS, and these four subunits may stabilize PIGK, triggering GPI anchoring reactions

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

NEDHCAS

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS