PIGH (phosphatidylinositol glycan anchor biosynthesis class H)

Gene

• Entrez ID: 5283
• Gene name: Phosphatidylinositol glycan anchor biosynthesis class H
• Gene symbol: PIGH
• Synonyms (NCBI Gene): GPI-H
• Chromosome: 14
• Chromosome location: 14q24.1
• Summary: This gene encodes an endoplasmic reticulum associated protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI anchor is a glycolipid found on many blood cells and which serves to anchor proteins to the cell surface. The

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs776038451	A>G	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT025861	hsa-miR-7-5p	Microarray	17612493
MIRT450755	hsa-miR-2682-3p	PAR-CLIP	22100165
MIRT450754	hsa-miR-6781-3p	PAR-CLIP	22100165
MIRT450755	hsa-miR-2682-3p	PAR-CLIP	22100165
MIRT450754	hsa-miR-6781-3p	PAR-CLIP	22100165
MIRT1233253	hsa-miR-1278	CLIP-seq
MIRT1233254	hsa-miR-135a	CLIP-seq
MIRT1233255	hsa-miR-135b	CLIP-seq
MIRT1233256	hsa-miR-145	CLIP-seq
MIRT1233257	hsa-miR-223	CLIP-seq
MIRT1233258	hsa-miR-2964a-5p	CLIP-seq
MIRT1233259	hsa-miR-3074-5p	CLIP-seq
MIRT1233260	hsa-miR-3148	CLIP-seq
MIRT1233261	hsa-miR-3160-5p	CLIP-seq
MIRT1233262	hsa-miR-3179	CLIP-seq
MIRT1233263	hsa-miR-3180-5p	CLIP-seq
MIRT1233264	hsa-miR-3617	CLIP-seq
MIRT1233265	hsa-miR-3622a-3p	CLIP-seq
MIRT1233266	hsa-miR-3622b-3p	CLIP-seq
MIRT1233267	hsa-miR-370	CLIP-seq
MIRT1233268	hsa-miR-3908	CLIP-seq
MIRT1233269	hsa-miR-3936	CLIP-seq
MIRT1233270	hsa-miR-3942-5p	CLIP-seq
MIRT1233271	hsa-miR-3978	CLIP-seq
MIRT1233272	hsa-miR-4328	CLIP-seq
MIRT1233273	hsa-miR-4424	CLIP-seq
MIRT1233274	hsa-miR-4426	CLIP-seq
MIRT1233275	hsa-miR-4457	CLIP-seq
MIRT1233276	hsa-miR-4502	CLIP-seq
MIRT1233277	hsa-miR-4647	CLIP-seq
MIRT1233278	hsa-miR-4662b	CLIP-seq
MIRT1233279	hsa-miR-4697-3p	CLIP-seq
MIRT1233280	hsa-miR-4703-5p	CLIP-seq
MIRT1233281	hsa-miR-4704-3p	CLIP-seq
MIRT1233282	hsa-miR-4712-5p	CLIP-seq
MIRT1233283	hsa-miR-4724-5p	CLIP-seq
MIRT1233284	hsa-miR-4760-5p	CLIP-seq
MIRT1233285	hsa-miR-4766-3p	CLIP-seq
MIRT1233286	hsa-miR-513c	CLIP-seq
MIRT1233287	hsa-miR-514b-5p	CLIP-seq
MIRT1233288	hsa-miR-641	CLIP-seq
MIRT1233289	hsa-miR-760	CLIP-seq
MIRT1233290	hsa-miR-770-5p	CLIP-seq
MIRT2068614	hsa-miR-1197	CLIP-seq
MIRT2068615	hsa-miR-1237	CLIP-seq
MIRT2068616	hsa-miR-1248	CLIP-seq
MIRT1233253	hsa-miR-1278	CLIP-seq
MIRT1233254	hsa-miR-135a	CLIP-seq
MIRT1233255	hsa-miR-135b	CLIP-seq
MIRT2068617	hsa-miR-182	CLIP-seq
MIRT2068618	hsa-miR-2052	CLIP-seq
MIRT1233257	hsa-miR-223	CLIP-seq
MIRT1233258	hsa-miR-2964a-5p	CLIP-seq
MIRT1233259	hsa-miR-3074-5p	CLIP-seq
MIRT2068619	hsa-miR-3136-5p	CLIP-seq
MIRT2068620	hsa-miR-3140-3p	CLIP-seq
MIRT2068621	hsa-miR-3156-5p	CLIP-seq
MIRT2068622	hsa-miR-3158-3p	CLIP-seq
MIRT1233261	hsa-miR-3160-5p	CLIP-seq
MIRT2068623	hsa-miR-3163	CLIP-seq
MIRT2068624	hsa-miR-3176	CLIP-seq
MIRT1233262	hsa-miR-3179	CLIP-seq
MIRT1233263	hsa-miR-3180-5p	CLIP-seq
MIRT2068625	hsa-miR-3545-3p	CLIP-seq
MIRT1233264	hsa-miR-3617	CLIP-seq
MIRT2068626	hsa-miR-3674	CLIP-seq
MIRT1233267	hsa-miR-370	CLIP-seq
MIRT2068627	hsa-miR-3922-3p	CLIP-seq
MIRT2068628	hsa-miR-3941	CLIP-seq
MIRT2068629	hsa-miR-3977	CLIP-seq
MIRT1233272	hsa-miR-4328	CLIP-seq
MIRT1233273	hsa-miR-4424	CLIP-seq
MIRT1233274	hsa-miR-4426	CLIP-seq
MIRT2068630	hsa-miR-4439	CLIP-seq
MIRT2068631	hsa-miR-4470	CLIP-seq
MIRT1233276	hsa-miR-4502	CLIP-seq
MIRT2068632	hsa-miR-4513	CLIP-seq
MIRT1233277	hsa-miR-4647	CLIP-seq
MIRT2068633	hsa-miR-4659a-3p	CLIP-seq
MIRT2068634	hsa-miR-4659b-3p	CLIP-seq
MIRT2068635	hsa-miR-466	CLIP-seq
MIRT1233278	hsa-miR-4662b	CLIP-seq
MIRT2068636	hsa-miR-4672	CLIP-seq
MIRT2068637	hsa-miR-4677-3p	CLIP-seq
MIRT2068638	hsa-miR-4679	CLIP-seq
MIRT2068639	hsa-miR-4682	CLIP-seq
MIRT1233279	hsa-miR-4697-3p	CLIP-seq
MIRT1233282	hsa-miR-4712-5p	CLIP-seq
MIRT2068640	hsa-miR-4719	CLIP-seq
MIRT1233283	hsa-miR-4724-5p	CLIP-seq
MIRT2068641	hsa-miR-4731-3p	CLIP-seq
MIRT1233284	hsa-miR-4760-5p	CLIP-seq
MIRT2068642	hsa-miR-4793-5p	CLIP-seq
MIRT2068643	hsa-miR-4801	CLIP-seq
MIRT2068644	hsa-miR-513b	CLIP-seq
MIRT1233286	hsa-miR-513c	CLIP-seq
MIRT1233287	hsa-miR-514b-5p	CLIP-seq
MIRT2068645	hsa-miR-548aa	CLIP-seq
MIRT2068646	hsa-miR-548n	CLIP-seq
MIRT2068647	hsa-miR-562	CLIP-seq
MIRT2068648	hsa-miR-563	CLIP-seq
MIRT2068649	hsa-miR-570	CLIP-seq
MIRT1233288	hsa-miR-641	CLIP-seq
MIRT2068650	hsa-miR-646	CLIP-seq
MIRT2068651	hsa-miR-7	CLIP-seq
MIRT1233290	hsa-miR-770-5p	CLIP-seq
MIRT2068652	hsa-miR-892a	CLIP-seq
MIRT2068615	hsa-miR-1237	CLIP-seq
MIRT2068619	hsa-miR-3136-5p	CLIP-seq
MIRT2068630	hsa-miR-4439	CLIP-seq
MIRT2068632	hsa-miR-4513	CLIP-seq
MIRT2068651	hsa-miR-7	CLIP-seq
MIRT2068652	hsa-miR-892a	CLIP-seq
MIRT2392504	hsa-miR-3121-5p	CLIP-seq
MIRT2392505	hsa-miR-4667-3p	CLIP-seq
MIRT2392506	hsa-miR-9	CLIP-seq
MIRT2068614	hsa-miR-1197	CLIP-seq
MIRT1233253	hsa-miR-1278	CLIP-seq
MIRT2593645	hsa-miR-132	CLIP-seq
MIRT2068618	hsa-miR-2052	CLIP-seq
MIRT2593646	hsa-miR-212	CLIP-seq
MIRT1233257	hsa-miR-223	CLIP-seq
MIRT1233258	hsa-miR-2964a-5p	CLIP-seq
MIRT1233259	hsa-miR-3074-5p	CLIP-seq
MIRT2068619	hsa-miR-3136-5p	CLIP-seq
MIRT1233260	hsa-miR-3148	CLIP-seq
MIRT2068621	hsa-miR-3156-5p	CLIP-seq
MIRT2068622	hsa-miR-3158-3p	CLIP-seq
MIRT1233261	hsa-miR-3160-5p	CLIP-seq
MIRT1233262	hsa-miR-3179	CLIP-seq
MIRT1233264	hsa-miR-3617	CLIP-seq
MIRT2068626	hsa-miR-3674	CLIP-seq
MIRT1233267	hsa-miR-370	CLIP-seq
MIRT1233269	hsa-miR-3936	CLIP-seq
MIRT2068628	hsa-miR-3941	CLIP-seq
MIRT1233271	hsa-miR-3978	CLIP-seq
MIRT2068630	hsa-miR-4439	CLIP-seq
MIRT1233275	hsa-miR-4457	CLIP-seq
MIRT2593647	hsa-miR-4477a	CLIP-seq
MIRT1233276	hsa-miR-4502	CLIP-seq
MIRT2068632	hsa-miR-4513	CLIP-seq
MIRT2068633	hsa-miR-4659a-3p	CLIP-seq
MIRT2068634	hsa-miR-4659b-3p	CLIP-seq
MIRT2068635	hsa-miR-466	CLIP-seq
MIRT2068636	hsa-miR-4672	CLIP-seq
MIRT2068637	hsa-miR-4677-3p	CLIP-seq
MIRT2068638	hsa-miR-4679	CLIP-seq
MIRT1233279	hsa-miR-4697-3p	CLIP-seq
MIRT1233282	hsa-miR-4712-5p	CLIP-seq
MIRT1233283	hsa-miR-4724-5p	CLIP-seq
MIRT2068641	hsa-miR-4731-3p	CLIP-seq
MIRT2068643	hsa-miR-4801	CLIP-seq
MIRT1233286	hsa-miR-513c	CLIP-seq
MIRT1233287	hsa-miR-514b-5p	CLIP-seq
MIRT1233288	hsa-miR-641	CLIP-seq
MIRT2068650	hsa-miR-646	CLIP-seq
MIRT2068651	hsa-miR-7	CLIP-seq
MIRT1233290	hsa-miR-770-5p	CLIP-seq
MIRT2068652	hsa-miR-892a	CLIP-seq
MIRT2068614	hsa-miR-1197	CLIP-seq
MIRT1233253	hsa-miR-1278	CLIP-seq
MIRT2593645	hsa-miR-132	CLIP-seq
MIRT2068618	hsa-miR-2052	CLIP-seq
MIRT2593646	hsa-miR-212	CLIP-seq
MIRT1233259	hsa-miR-3074-5p	CLIP-seq
MIRT2068619	hsa-miR-3136-5p	CLIP-seq
MIRT1233260	hsa-miR-3148	CLIP-seq
MIRT2068621	hsa-miR-3156-5p	CLIP-seq
MIRT2068622	hsa-miR-3158-3p	CLIP-seq
MIRT1233261	hsa-miR-3160-5p	CLIP-seq
MIRT1233262	hsa-miR-3179	CLIP-seq
MIRT1233264	hsa-miR-3617	CLIP-seq
MIRT2068626	hsa-miR-3674	CLIP-seq
MIRT1233267	hsa-miR-370	CLIP-seq
MIRT1233269	hsa-miR-3936	CLIP-seq
MIRT2068628	hsa-miR-3941	CLIP-seq
MIRT1233271	hsa-miR-3978	CLIP-seq
MIRT2068630	hsa-miR-4439	CLIP-seq
MIRT1233275	hsa-miR-4457	CLIP-seq
MIRT2593647	hsa-miR-4477a	CLIP-seq
MIRT2068632	hsa-miR-4513	CLIP-seq
MIRT2068633	hsa-miR-4659a-3p	CLIP-seq
MIRT2068634	hsa-miR-4659b-3p	CLIP-seq
MIRT2068635	hsa-miR-466	CLIP-seq
MIRT2068636	hsa-miR-4672	CLIP-seq
MIRT2068637	hsa-miR-4677-3p	CLIP-seq
MIRT2068638	hsa-miR-4679	CLIP-seq
MIRT1233282	hsa-miR-4712-5p	CLIP-seq
MIRT1233283	hsa-miR-4724-5p	CLIP-seq
MIRT2068641	hsa-miR-4731-3p	CLIP-seq
MIRT2068643	hsa-miR-4801	CLIP-seq
MIRT1233286	hsa-miR-513c	CLIP-seq
MIRT1233287	hsa-miR-514b-5p	CLIP-seq
MIRT1233288	hsa-miR-641	CLIP-seq
MIRT2068650	hsa-miR-646	CLIP-seq
MIRT2068651	hsa-miR-7	CLIP-seq
MIRT1233290	hsa-miR-770-5p	CLIP-seq
MIRT2068652	hsa-miR-892a	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000506	Component	Glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex	IBA
GO:0000506	Component	Glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex	IDA	10944123, 16162815
GO:0000506	Component	Glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex	IEA
GO:0000506	Component	Glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex	IPI	16162815
GO:0003824	Function	Catalytic activity	TAS	8900170
GO:0005515	Function	Protein binding	IPI	8900170, 9463366, 10944123, 16162815, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	TAS	8900170
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	16162815
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
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	TAS	8900170
GO:0036211	Process	Protein modification process	TAS	8900170

Other IDs

• MIM: 600154
• HGNC: 8964
• e!Ensembl: ENSG00000100564

Protein

• UniProt ID: Q14442
• Protein name: Phosphatidylinositol N-acetylglucosaminyltransferase subunit H (Phosphatidylinositol-glycan biosynthesis class H protein) (PIG-H)
• 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
  PF10181	PIG-H	89 → 158	GPI-GlcNAc transferase complex, PIG-H component	Family

• Sequence:

  MEDERSFSDICGGRLALQRRYYSPSCREFCLSCPRLSLRSLTAVTCTVWLAAYGLFTLCE
  NSMILSAAIFITLLGLLGYLHFVKIDQETLLIIDSLGIQMTSSYASGKESTTFIEMGKVK
  DIVINEAIYMQKVIYYLCILLKDPVEPHGISQVVPVFQSAKPRLDCLIEVYRSCQEILAH
  QKATSTSP

• Sequence length: 188

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
Glycosylphosphatidylinositol biosynthesis defect 17	Pathogenic	rs761543313, rs776038451	RCV000656656 RCV000656657	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR POSITIVE BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PIGH-related disorder	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Autistic Disorder	Autism	BEFREE	29603516		★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital microcephaly	Congenital Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	33156547	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	29573052		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	GENOMICS_ENGLAND_DG	29573052		★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	GENOMICS_ENGLAND_DG	29573052		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	29573052, 29603516		★☆☆☆☆ Found in Text Mining only
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	Glycosylphosphatidylinositol deficiency	GENOMICS_ENGLAND_DG	29573052, 29603510		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	Glycosylphosphatidylinositol deficiency	UNIPROT_DG	29573052, 29603516		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	Glycosylphosphatidylinositol deficiency	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	33156547	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	31738019		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	29573052		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	31738019		★☆☆☆☆ Found in Text Mining only
Psychomotor Disorders	Psychiatric disorders	Pubtator	33156547	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis	Scoliosis	Pubtator	33156547	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizures	Seizures	Pubtator	33156547	Associate	★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only