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	9091
Gene name	Phosphatidylinositol glycan anchor biosynthesis class Q
Gene symbol	PIGQ
Synonyms (NCBI Gene)	DEE77EIEE77GPI1GPIBD19MCAHS4c407A10.1
Chromosome	16
Chromosome location	16p13.3
Summary	This gene is involved in the first step in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a N-acetylglucosaminyl transfe

Show/Hide all (5)

SNP ID	Visualize variation	Clinical significance	Consequence
rs200661329	G>A,C	Likely-pathogenic, uncertain-significance, pathogenic	Splice donor variant
rs587777543	A>G	Pathogenic	Splice acceptor variant
rs730882240	C>T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs747661902	TG>-	Uncertain-significance, pathogenic	Frameshift variant, coding sequence variant
rs766667249	ACT>-	Pathogenic, likely-pathogenic	Inframe deletion, coding sequence variant

Show/Hide all (68)

miRTarBase ID	miRNA	Experiments	Reference
MIRT046809	hsa-miR-222-3p	CLASH	23622248
MIRT718554	hsa-miR-6510-5p	HITS-CLIP	19536157
MIRT718553	hsa-miR-3158-3p	HITS-CLIP	19536157
MIRT718552	hsa-miR-214-3p	HITS-CLIP	19536157
MIRT718551	hsa-miR-3619-5p	HITS-CLIP	19536157
MIRT718550	hsa-miR-761	HITS-CLIP	19536157
MIRT718549	hsa-miR-4308	HITS-CLIP	19536157
MIRT718548	hsa-miR-4292	HITS-CLIP	19536157
MIRT718547	hsa-miR-6791-5p	HITS-CLIP	19536157
MIRT718546	hsa-miR-5193	HITS-CLIP	19536157
MIRT718545	hsa-miR-660-3p	HITS-CLIP	19536157
MIRT718544	hsa-miR-6734-3p	HITS-CLIP	19536157
MIRT718543	hsa-miR-3667-3p	HITS-CLIP	19536157
MIRT718542	hsa-miR-6132	HITS-CLIP	19536157
MIRT718541	hsa-miR-6836-5p	HITS-CLIP	19536157
MIRT718540	hsa-miR-516a-3p	HITS-CLIP	19536157
MIRT718539	hsa-miR-516b-3p	HITS-CLIP	19536157
MIRT718538	hsa-miR-7162-5p	HITS-CLIP	19536157
MIRT718537	hsa-miR-670-5p	HITS-CLIP	19536157
MIRT718536	hsa-miR-4691-5p	HITS-CLIP	19536157
MIRT718535	hsa-miR-6792-3p	HITS-CLIP	19536157
MIRT718534	hsa-miR-6749-3p	HITS-CLIP	19536157
MIRT718533	hsa-miR-4526	HITS-CLIP	19536157
MIRT718554	hsa-miR-6510-5p	HITS-CLIP	19536157
MIRT718553	hsa-miR-3158-3p	HITS-CLIP	19536157
MIRT718552	hsa-miR-214-3p	HITS-CLIP	19536157
MIRT718551	hsa-miR-3619-5p	HITS-CLIP	19536157
MIRT718550	hsa-miR-761	HITS-CLIP	19536157
MIRT718549	hsa-miR-4308	HITS-CLIP	19536157
MIRT718548	hsa-miR-4292	HITS-CLIP	19536157
MIRT718547	hsa-miR-6791-5p	HITS-CLIP	19536157
MIRT718546	hsa-miR-5193	HITS-CLIP	19536157
MIRT718545	hsa-miR-660-3p	HITS-CLIP	19536157
MIRT718544	hsa-miR-6734-3p	HITS-CLIP	19536157
MIRT718543	hsa-miR-3667-3p	HITS-CLIP	19536157
MIRT718542	hsa-miR-6132	HITS-CLIP	19536157
MIRT718541	hsa-miR-6836-5p	HITS-CLIP	19536157
MIRT718540	hsa-miR-516a-3p	HITS-CLIP	19536157
MIRT718539	hsa-miR-516b-3p	HITS-CLIP	19536157
MIRT718538	hsa-miR-7162-5p	HITS-CLIP	19536157
MIRT718537	hsa-miR-670-5p	HITS-CLIP	19536157
MIRT718536	hsa-miR-4691-5p	HITS-CLIP	19536157
MIRT718535	hsa-miR-6792-3p	HITS-CLIP	19536157
MIRT718534	hsa-miR-6749-3p	HITS-CLIP	19536157
MIRT718533	hsa-miR-4526	HITS-CLIP	19536157
MIRT1233460	hsa-miR-1207-5p	CLIP-seq
MIRT1233461	hsa-miR-1234	CLIP-seq
MIRT1233462	hsa-miR-148a	CLIP-seq
MIRT1233463	hsa-miR-148b	CLIP-seq
MIRT1233464	hsa-miR-152	CLIP-seq
MIRT1233465	hsa-miR-4269	CLIP-seq
MIRT1233466	hsa-miR-4665-3p	CLIP-seq
MIRT1233467	hsa-miR-4736	CLIP-seq
MIRT1233468	hsa-miR-4763-3p	CLIP-seq
MIRT2068684	hsa-miR-1178	CLIP-seq
MIRT1233462	hsa-miR-148a	CLIP-seq
MIRT1233463	hsa-miR-148b	CLIP-seq
MIRT1233464	hsa-miR-152	CLIP-seq
MIRT2068685	hsa-miR-2355-5p	CLIP-seq
MIRT2068686	hsa-miR-2467-5p	CLIP-seq
MIRT2068687	hsa-miR-3188	CLIP-seq
MIRT2068688	hsa-miR-370	CLIP-seq
MIRT2068689	hsa-miR-3975	CLIP-seq
MIRT2068690	hsa-miR-4258	CLIP-seq
MIRT2068691	hsa-miR-4313	CLIP-seq
MIRT2068692	hsa-miR-4649-3p	CLIP-seq
MIRT2068693	hsa-miR-485-5p	CLIP-seq
MIRT2068694	hsa-miR-596	CLIP-seq

Show/Hide all (14)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000506	Component	Glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex	IDA	16162815
GO:0000506	Component	Glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex	IEA
GO:0000506	Component	Glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex	IPI	16162815
GO:0005515	Function	Protein binding	IPI	9463366, 10944123, 16162815, 33961781
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	16162815
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005975	Process	Carbohydrate metabolic process	TAS	9729469
GO:0006506	Process	GPI anchor biosynthetic process	IBA
GO:0006506	Process	GPI anchor biosynthetic process	IDA	16162815
GO:0006506	Process	GPI anchor biosynthetic process	IEA
GO:0006506	Process	GPI anchor biosynthetic process	IEA
GO:0016020	Component	Membrane	IEA
GO:0017176	Function	Phosphatidylinositol N-acetylglucosaminyltransferase activity	IEA

MIM	HGNC	e!Ensembl
605754	14135	ENSG00000007541

Q9BRB3

Protein name

Phosphatidylinositol N-acetylglucosaminyltransferase subunit Q (N-acetylglucosamyl transferase component GPI1) (Phosphatidylinositol-glycan biosynthesis class Q protein) (PIG-Q)

Protein function

Part of the glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex that catalyzes the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol and participates in the first step of GPI biosynth

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF05024	Gpi1	276 → 463	N-acetylglucosaminyl transferase component (Gpi1)	Family

Sequence

MVLKAFFPTCCVSTDSGLLVGRWVPEQSSAVVLAVLHFPFIPIQVKQLLAQVRQASQVGV
AVLGTWCHCRQEPEESLGRFLESLGAVFPHEPWLRLCRERGGTFWSCEATHRQAPTAPGA
PGEDQVMLIFYDQRQVLLSQLHLPTVLPDRQAGATTASTGGLAAVFDTVARSEVLFRSDR
FDEGPVRLSHWQSEGVEASILAELARRASGPICLLLASLLSLVSAVSACRVFKLWPLSFL
GSKLSTCEQLRHRLEHLTLIFSTRKAENPAQLMRKANTVASVLLDVALGLMLLSWLHGRS
RIGHLADALVPVADHVAEELQHLLQWLMGAPAGLKMNRALDQVLGRFFLYHIHLWISYIH
LMSPFVEHILWHVGLSACLGLTVALSLLSDIIALLTFHIYCFYVYGARLYCLKIHGLSSL
WRLFRGKKWNVLRQRVDSCSYDLDQLFIGTLLFTILLFLLPTTALYYLVFTLLRLLVVAV
QGLIHLLVDLINSLPLYSLGLRLCRPYRLADKPTALQPRGAHLPPPQLWLPPQALLGRPV
PQAVPWGAHLPLEAERGQAGLRELLARLAPPHGHSQPSALPGWHQLSWRMSCALWTLLCA
PEHGRPCYHTLGLEVIGSEQMWGWPARLAALHHWHCLPWDPLPTCCGHHGGEHSNPRCPE
HCPMPTLCTQVQRVRPPQQPQVEGWSPWGLPSGSALAVGVEGPCQDEPPSPRHPLAPSAE
QHPASGGLKQSLTPVPSGPGPSLPEPHGVYLRMFPGEVAL

Sequence length

760

Interactions

View interactions

	KEGG		Reactome
	Glycosylphosphatidylinositol (GPI)-anchor biosynthesis Metabolic pathways		Synthesis of glycosylphosphatidylinositol (GPI)

707

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Developmental and epileptic encephalopathy	Likely pathogenic; Pathogenic	rs778325154	RCV005362930
Developmental and epileptic encephalopathy, 77	Likely pathogenic; Pathogenic	rs1361495767, rs2151044300, rs587777543, rs730882240, rs200661329, rs766667249, rs747661902, rs2035826930	RCV001733884 RCV001782630 RCV000128637 RCV000850139 RCV001290116 RCV000850141 RCV000850140 RCV001290115
Epilepsy	Pathogenic; Likely pathogenic	rs1341033162, rs2151044300, rs762696210, rs767373792, rs2151044127, rs200661329, rs2151047692, rs2151047073, rs1567174597, rs780581800, rs2151044473, rs730882240, rs750315914, rs778325154, rs2505931126 View all (13 more)	RCV001382377 RCV003107851 RCV001994558 RCV001884226 RCV001935593 RCV001949293 RCV001966595 RCV001942790 RCV001874706 RCV002037933 RCV001953542 RCV002516438 RCV002791062 RCV002948386 RCV002943760 RCV003055493 RCV003046658 RCV003531030 RCV003646427 RCV003647022 RCV003838695 RCV003867035 RCV005064742 RCV000537621 RCV001240418 RCV000816707 RCV000700963 RCV000798268 RCV000795788
Global developmental delay	Pathogenic	rs730882240	RCV000162174
Intractable seizure	Pathogenic	rs730882240	RCV000162174
Optic atrophy	Pathogenic	rs730882240	RCV000162174
PIGQ-related disorder	Likely pathogenic; Pathogenic	rs2035766325, rs2505936870, rs200661329	RCV003412383 RCV003896979 RCV000787940

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs57125048	RCV005921171
Cervical cancer	Uncertain significance	rs199992680	RCV005913528
Familial cancer of breast	Likely benign	rs145602990	RCV005901235
Familial prostate cancer	Uncertain significance	rs752541286	RCV005923989
Ovarian serous cystadenocarcinoma	Benign	rs57125048	RCV005921173
Sarcoma	Benign	rs57125048	RCV005921172
Uterine corpus endometrial carcinoma	Benign	rs57125048	RCV005921174

Show/Hide Text Mining Associations (1)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alzheimer Disease	Associate	25114068

PIGQ (phosphatidylinositol glycan anchor biosynthesis class Q)