Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	128869
Gene name	Phosphatidylinositol glycan anchor biosynthesis class U
Gene symbol	PIGU
Synonyms (NCBI Gene)	CDC91L1GAB1GPIBD21NEDBSSPIG-U
Chromosome	20
Chromosome location	20q11.22
Summary	The protein encoded by this gene shares similarity with Saccharomyces cerevisiae Cdc91, a predicted integral membrane protein that may function in cell division control. The protein encoded by this gene is the fifth subunit of GPI transamidase that attach

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs756912205	G>T	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs1600656141	A>T	Pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, missense variant

Show/Hide all (28)

miRTarBase ID	miRNA	Experiments	Reference
MIRT032423	hsa-let-7b-5p	Proteomics	18668040
MIRT1233593	hsa-miR-1231	CLIP-seq
MIRT1233594	hsa-miR-3120-5p	CLIP-seq
MIRT1233595	hsa-miR-3192	CLIP-seq
MIRT1233596	hsa-miR-3667-3p	CLIP-seq
MIRT1233597	hsa-miR-3689a-3p	CLIP-seq
MIRT1233598	hsa-miR-3689c	CLIP-seq
MIRT1233599	hsa-miR-4279	CLIP-seq
MIRT1233600	hsa-miR-4314	CLIP-seq
MIRT1233601	hsa-miR-4421	CLIP-seq
MIRT1233602	hsa-miR-4646-5p	CLIP-seq
MIRT1233603	hsa-miR-4728-5p	CLIP-seq
MIRT1233604	hsa-miR-942	CLIP-seq
MIRT2295825	hsa-miR-1178	CLIP-seq
MIRT1233593	hsa-miR-1231	CLIP-seq
MIRT1233594	hsa-miR-3120-5p	CLIP-seq
MIRT1233595	hsa-miR-3192	CLIP-seq
MIRT2295826	hsa-miR-3622a-3p	CLIP-seq
MIRT2295827	hsa-miR-3622b-3p	CLIP-seq
MIRT1233596	hsa-miR-3667-3p	CLIP-seq
MIRT1233597	hsa-miR-3689a-3p	CLIP-seq
MIRT1233598	hsa-miR-3689c	CLIP-seq
MIRT1233599	hsa-miR-4279	CLIP-seq
MIRT1233600	hsa-miR-4314	CLIP-seq
MIRT1233601	hsa-miR-4421	CLIP-seq
MIRT1233602	hsa-miR-4646-5p	CLIP-seq
MIRT1233603	hsa-miR-4728-5p	CLIP-seq
MIRT1233604	hsa-miR-942	CLIP-seq

Show/Hide all (26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003923	Function	GPI-anchor transamidase activity	IDA	35165458
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	NAS	12802054
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005886	Component	Plasma membrane	IDA	15034568
GO:0006506	Process	GPI anchor biosynthetic process	IDA	15034568
GO:0006506	Process	GPI anchor biosynthetic process	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016255	Process	Attachment of GPI anchor to protein	IBA
GO:0016255	Process	Attachment of GPI anchor to protein	IDA	12802054, 31353022, 34576938, 35165458, 35551457, 37684232
GO:0016255	Process	Attachment of GPI anchor to protein	IEA
GO:0016255	Process	Attachment of GPI anchor to protein	IMP	12802054
GO:0016255	Process	Attachment of GPI anchor to protein	NAS	12802054
GO:0016255	Process	Attachment of GPI anchor to protein	TAS	11483512
GO:0034235	Function	GPI anchor binding	IDA	37684232
GO:0034235	Function	GPI anchor binding	IMP	12802054
GO:0042765	Component	GPI-anchor transamidase complex	IBA
GO:0042765	Component	GPI-anchor transamidase complex	IDA	12802054, 34576938, 35165458, 35551457, 37684232
GO:0042765	Component	GPI-anchor transamidase complex	IEA
GO:0042765	Component	GPI-anchor transamidase complex	IPI	12802054
GO:0046425	Process	Regulation of receptor signaling pathway via JAK-STAT	IDA	15034568
GO:0180046	Process	GPI anchored protein biosynthesis	IDA	31353022, 35165458, 35551457
GO:0180046	Process	GPI anchored protein biosynthesis	IEA

MIM	HGNC	e!Ensembl
608528	15791	ENSG00000101464

Q9H490

Protein name

GPI-anchor transamidase component PIGU (Cell division cycle protein 91-like 1) (Protein CDC91-like 1) (GPI transamidase component PIG-U) (Phosphatidylinositol glycan anchor biosynthesis class U protein)

Protein function

Component of the glycosylphosphatidylinositol-anchor (GPI-anchor) transamidase (GPI-T) complex that catalyzes the formation of the linkage between a proprotein and a GPI-anchor and participates in GPI anchored protein biosynthesis (PubMed:128020

PDB

7W72 , 7WLD , 8IMX , 8IMY

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF06728	PIG-U	10 → 394		Family

Sequence

MAAPLVLVLVVAVTVRAALFRSSLAEFISERVEVVSPLSSWKRVVEGLSLLDLGVSPYSG
AVFHETPLIIYLFHFLIDYAELVFMITDALTAIALYFAIQDFNKVVFKKQKLLLELDQYA
PDVAELIRTPMEMRYIPLKVALFYLLNPYTILSCVAKSTCAINNTLIAFFILTTIKGSAF
LSAIFLALATYQSLYPLTLFVPGLLYLLQRQYIPVKMKSKAFWIFSWEYAMMYVGSLVVI
ICLSFFLLSSWDFIPAVYGFILSVPDLTPNIGLFWYFFAEMFEHFSLFFVCVFQINVFFY
TIPLAIKLKEHPIFFMFIQIAVIAIFKSYPTVGDVALYMAFFPVWNHLYRFLRNIFVLTC
IIIVCSLLFPVLWHLWIYAGSANSNFFYAITLTFNVGQILLISDYFYAFLRREYYLTHGL
YLTAKDGTEAMLVLK

Sequence length

435

Interactions

View interactions

	KEGG		Reactome
	Glycosylphosphatidylinositol (GPI)-anchor biosynthesis Metabolic pathways		Attachment of GPI anchor to uPAR

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Glycosylphosphatidylinositol biosynthesis defect 21	Likely pathogenic; Pathogenic	rs2146684649, rs1600656141, rs756912205	RCV002266611 RCV000850491 RCV000850492

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
PIGU-related disorder	Benign; Likely benign; Uncertain significance	rs41290896, rs115569429, rs547805488, rs2516184414, rs189959388, rs562683306	RCV003970973 RCV003971170 RCV003936442 RCV003399784 RCV003946661 RCV003974483 RCV003979599 RCV003917131 RCV003931935

Show/Hide Text Mining Associations (14)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Brain Diseases	Associate	31353022
Breast Neoplasms	Associate	18028549
Carcinoma Hepatocellular	Associate	31277598
Developmental Disabilities	Associate	31353022
Epilepsy	Associate	31353022
Facial Dysmorphism with Multiple Malformations	Associate	31353022
Intellectual Disability	Associate	31353022
Lymphoma	Associate	18487995
Melanoma	Associate	18488026, 23393597
Neoplasms	Associate	21036922
Seizures	Associate	31353022
Skin Neoplasms	Associate	21221757
Squamous Cell Carcinoma of Head and Neck	Associate	18028549
Urinary Bladder Neoplasms	Stimulate	18487995

PIGU (phosphatidylinositol glycan anchor biosynthesis class U)