PIGQ (phosphatidylinositol glycan anchor biosynthesis class Q)

Gene

• Entrez ID: 9091
• Gene name: Phosphatidylinositol glycan anchor biosynthesis class Q
• Gene symbol: PIGQ
• Synonyms (NCBI Gene): DEE77, EIEE77, GPI1, GPIBD19, MCAHS4, c407A10.1
• 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

SNPs

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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 605754
• HGNC: 14135
• e!Ensembl: ENSG00000007541

Protein

• UniProt ID: 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

Pathways

KEGG:

Glycosylphosphatidylinositol (GPI)-anchor biosynthesis
Metabolic pathways

Reactome:

Synthesis of glycosylphosphatidylinositol (GPI)

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Developmental and epileptic encephalopathy	Likely pathogenic; Pathogenic	rs778325154	RCV005362930	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental and epileptic encephalopathy, 77	Likely pathogenic; Pathogenic	rs1361495767, rs2151044300, rs587777543, rs730882240, rs200661329, rs766667249, rs747661902, rs2035826930	RCV001733884 RCV001782630 RCV000128637 RCV000850139 RCV001290116 RCV000850141 RCV000850140 RCV001290115	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epilepsy	Pathogenic; Likely pathogenic	rs1341033162, rs2151044300, rs762696210, rs767373792, rs2151044127, rs200661329, rs2151047692, rs2151047073, rs1567174597, rs780581800, rs2151044473, rs730882240, rs750315914, rs778325154, rs2505931126, rs2505933639, rs759540917, rs1300851687, rs2505931024, rs777480754, rs776641714, rs2505931142, rs2505936870, rs766667249, rs747661902, rs1206309859, rs1229740428, rs1596385588	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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Global developmental delay	Pathogenic	rs730882240	RCV000162174	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intractable seizure	Pathogenic	rs730882240	RCV000162174	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Optic atrophy	Pathogenic	rs730882240	RCV000162174	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PIGQ-related disorder	Likely pathogenic; Pathogenic	rs2035766325, rs2505936870, rs200661329	RCV003412383 RCV003896979 RCV000787940	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY INFANTILE DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY WITH SUPPRESSION BURSTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES, INTRACTABLE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	25114068	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	30516351		★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Choreoathetosis	Choreoathetosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital malrotation of intestine	Congenital malrotation of intestine	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diverticulosis of the duodenum	Diverticulosis Of The Duodenum	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	10373468, 11418246, 22265715, 24463883, 24852103, 25558065, 25851949, 9463366, 9729469		★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Early infantile epileptic encephalopathy	Epileptic encephalopathy	Orphanet			★☆☆☆☆ Found in Text Mining only
Early infantile epileptic encephalopathy with suppression bursts	Epileptic Encephalopathy	BEFREE	24463883		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Early infantile epileptic encephalopathy with suppression bursts	Epileptic Encephalopathy	ORPHANET_DG	24463883		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	GENOMICS_ENGLAND_DG	31148362		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epileptic drop attack	Hypotonic seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Episodic Ataxia	Episodic Ataxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Exotropia	Exotropia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Focal seizures, afebril	Focal Seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Foramen Ovale, Patent	Patent foramen ovale	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Generalized clonic seizures	Clonic Seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	GENOMICS_ENGLAND_DG	31148362		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hydronephrosis	Hydronephrosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	30516351		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intestinal Volvulus	Intestinal Volvulus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	10373468, 11418246, 22265715, 24463883, 24852103, 25558065, 25851949, 9463366, 9729469		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	GWASDB_DG	21211798		★☆☆☆☆ Found in Text Mining only
Neonatal hypoglycemia	Hypoglycemia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	GENOMICS_ENGLAND_DG	31148362		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Optic Atrophy	Optic Atrophy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pachygyria	Pachygyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Plagiocephaly	Plagiocephaly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Precocious Puberty	Precocious puberty	HPO_DG			★☆☆☆☆ Found in Text Mining only
Profound global developmental delay	Developmental Delay	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Stenosis	Pulmonary Stenosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Renal Cell Dysplasia	Renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal dysplasia	Renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ureterocele	Ureterocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
X-linked infantile spasms	Spasms X-Linked	GENOMICS_ENGLAND_DG	31148362		★☆☆☆☆ Found in Text Mining only