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 protein encoded by this gene is a subunit of the GPI N-acetylglucosaminyl (GlcNAc) transferase that transfers GlcNAc to phos... See more...

Aliases for PIGH Gene

Aliases for PIGH Gene

  • Phosphatidylinositol Glycan Anchor Biosynthesis Class H 2 3 5
  • Phosphatidylinositol N-Acetylglucosaminyltransferase Subunit H 3 4
  • GPI-H 2 3
  • Phosphatidylinositol N-Acetylglucosaminyltransferase Subunit 2
  • Phosphatidylinositol-Glycan Biosynthesis, Class H Protein 3
  • Phosphatidylinositol-Glycan Biosynthesis Class H Protein 4
  • Phosphatidylinositol Glycan, Class H 2
  • PIG-H 4
  • PIGH 5

External Ids for PIGH Gene

Previous GeneCards Identifiers for PIGH Gene

  • GC14M065561
  • GC14M061849
  • GC14M066046
  • GC14M067125
  • GC14M068056
  • GC14M048225

Summaries for PIGH Gene

Entrez Gene Summary for PIGH Gene

  • 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 protein encoded by this gene is a subunit of the GPI N-acetylglucosaminyl (GlcNAc) transferase that transfers GlcNAc to phosphatidylinositol (PI) on the cytoplasmic side of the endoplasmic reticulum. [provided by RefSeq, Jul 2008]

GeneCards Summary for PIGH Gene

PIGH (Phosphatidylinositol Glycan Anchor Biosynthesis Class H) is a Protein Coding gene. Diseases associated with PIGH include Glycosylphosphatidylinositol Biosynthesis Defect 17 and Hemoglobinuria. Among its related pathways are Glycosylphosphatidylinositol (GPI)-anchor biosynthesis and Post-translational modification- synthesis of GPI-anchored proteins. Gene Ontology (GO) annotations related to this gene include phosphatidylinositol N-acetylglucosaminyltransferase activity.

UniProtKB/Swiss-Prot Summary for PIGH Gene

  • 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 biosynthesis.

Gene Wiki entry for PIGH Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PIGH Gene

Genomics for PIGH Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PIGH Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PIGH on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PIGH

Top Transcription factor binding sites by QIAGEN in the PIGH gene promoter:
  • En-1
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1a
  • NCX
  • Pax-2
  • Pax-2a
  • Pax-2b
  • STAT3

Genomic Locations for PIGH Gene

Latest Assembly
chr14:67,581,955-67,600,302
(GRCh38/hg38)
Size:
18,348 bases
Orientation:
Minus strand

Previous Assembly
chr14:68,056,023-68,067,018
(GRCh37/hg19 by Entrez Gene)
Size:
10,996 bases
Orientation:
Minus strand

chr14:68,048,672-68,067,004
(GRCh37/hg19 by Ensembl)
Size:
18,333 bases
Orientation:
Minus strand

Genomic View for PIGH Gene

Genes around PIGH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PIGH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PIGH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PIGH Gene

Proteins for PIGH Gene

  • Protein details for PIGH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14442-PIGH_HUMAN
    Recommended name:
    Phosphatidylinositol N-acetylglucosaminyltransferase subunit H
    Protein Accession:
    Q14442
    Secondary Accessions:
    • B2RAA4

    Protein attributes for PIGH Gene

    Size:
    188 amino acids
    Molecular mass:
    21081 Da
    Quaternary structure:
    • Component of the glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex composed at least by PIGA, PIGC, PIGH, PIGP, PIGQ, PIGY and DPM2 (PubMed:16162815, PubMed:9463366). Interacts with PIGQ (PubMed:9463366).

neXtProt entry for PIGH Gene

Post-translational modifications for PIGH Gene

  • Ubiquitination at Lys182
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PIGH Gene

Domains & Families for PIGH Gene

Gene Families for PIGH Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for PIGH Gene

Suggested Antigen Peptide Sequences for PIGH Gene

GenScript: Design optimal peptide antigens:
  • Phosphatidylinositol-glycan biosynthesis class H protein (PIGH_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q14442

UniProtKB/Swiss-Prot:

PIGH_HUMAN :
  • Belongs to the PIGH family.
Family:
  • Belongs to the PIGH family.
genes like me logo Genes that share domains with PIGH: view

Function for PIGH Gene

Molecular function for PIGH Gene

UniProtKB/Swiss-Prot 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 biosynthesis.
GENATLAS Biochemistry:
glycosyl-phosphatidylinositol (GPI) anchor synthesis,class H

Phenotypes From GWAS Catalog for PIGH Gene

Gene Ontology (GO) - Molecular Function for PIGH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity TAS 8900170
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
GO:0017176 phosphatidylinositol N-acetylglucosaminyltransferase activity IEA --
genes like me logo Genes that share ontologies with PIGH: view
genes like me logo Genes that share phenotypes with PIGH: view

Human Phenotype Ontology for PIGH Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PIGH Gene

MGI Knock Outs for PIGH:
  • Pigh Pigh<tm1.1(KOMP)Vlcg>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PIGH

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PIGH Gene

Localization for PIGH Gene

Subcellular locations from UniProtKB/Swiss-Prot for PIGH Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PIGH gene
Compartment Confidence
endoplasmic reticulum 4
plasma membrane 3
extracellular 1
mitochondrion 1
nucleus 1
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for PIGH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000506 glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex IBA,IDA 10944123
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum TAS 8900170
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with PIGH: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PIGH Gene

Pathways & Interactions for PIGH Gene

genes like me logo Genes that share pathways with PIGH: view

UniProtKB/Swiss-Prot Q14442-PIGH_HUMAN

  • Pathway: Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.

Gene Ontology (GO) - Biological Process for PIGH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006464 cellular protein modification process TAS 8900170
GO:0006506 GPI anchor biosynthetic process IEA,IDA 16162815
GO:0016254 preassembly of GPI anchor in ER membrane TAS --
genes like me logo Genes that share ontologies with PIGH: view

No data available for SIGNOR curated interactions for PIGH Gene

Drugs & Compounds for PIGH Gene

(7) Drugs for PIGH Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ceramide NG Experimental Pharma 0
Phytosphingosine Experimental Pharma 0
Sphingosine Experimental Pharma 0
Uridine 5'-diphosphate Experimental Pharma 0
sphinganine Pharma 0

(891) Additional Compounds for PIGH Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-Dehydrosphinganine
  • 3-Dehydro-D-sphinganine
  • 3-Ketodihydrosphingosine
  • 3-Ketosphinganine
  • (2S)-2-Amino-1-hydroxyoctadecan-3-one
  • 1-Hydroxy-2-amino-3-oxo-octadecane
16105-69-4
3-O-Sulfogalactosylceramide (d18:1/12:0)
  • 3-O-Sulphogalactosylceramide (D18:1/12:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
852100-88-0
3-O-Sulfogalactosylceramide (d18:1/14:0)
  • 3-O-Sulphogalactosylceramide (D18:1/14:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
3-O-Sulfogalactosylceramide (d18:1/16:0)
  • 3-O-Sulphogalactosylceramide (D18:1/16:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
862509-48-6
3-O-Sulfogalactosylceramide (d18:1/18:0)
  • 3-O-Sulphogalactosylceramide (D18:1/18:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
244215-65-4
genes like me logo Genes that share compounds with PIGH: view

Transcripts for PIGH Gene

mRNA/cDNA for PIGH Gene

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PIGH

Alternative Splicing Database (ASD) splice patterns (SP) for PIGH Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4
SP1:
SP2:

Relevant External Links for PIGH Gene

GeneLoc Exon Structure for
PIGH

Expression for PIGH Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PIGH Gene

Protein differential expression in normal tissues from HIPED for PIGH Gene

This gene is overexpressed in Placenta (63.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PIGH Gene



Protein tissue co-expression partners for PIGH Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PIGH

SOURCE GeneReport for Unigene cluster for PIGH Gene:

Hs.553497

Evidence on tissue expression from TISSUES for PIGH Gene

  • Nervous system(4.5)
  • Blood(4.2)
  • Lung(4.2)
  • Kidney(3.3)
genes like me logo Genes that share expression patterns with PIGH: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PIGH Gene

Orthologs for PIGH Gene

This gene was present in the common ancestor of chordates.

Orthologs for PIGH Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PIGH 29 30
  • 100 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PIGH 29 30
  • 93.97 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PIGH 29 30
  • 91.84 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PIGH 30
  • 91 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pigh 29
  • 89.13 (n)
Mouse
(Mus musculus)
Mammalia Pigh 29 16 30
  • 87.34 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PIGH 30
  • 80 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PIGH 29 30
  • 70.27 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PIGH 30
  • 71 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pigh 29
  • 63.7 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.14210 29
Zebrafish
(Danio rerio)
Actinopterygii pigh 29 30
  • 61.69 (n)
OneToOne
Species where no ortholog for PIGH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for PIGH Gene

ENSEMBL:
Gene Tree for PIGH (if available)
TreeFam:
Gene Tree for PIGH (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PIGH: view image
Alliance of Genome Resources:
Additional Orthologs for PIGH

Paralogs for PIGH Gene

Pseudogenes.org Pseudogenes for PIGH Gene

genes like me logo Genes that share paralogs with PIGH: view

No data available for Paralogs for PIGH Gene

Variants for PIGH Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PIGH Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
rs193920948 Uncertain Significance: Malignant tumor of prostate 67,592,638(-) G/C
NM_004569.5(PIGH):c.471C>G (p.Phe157Leu)
MISSENSE
rs761543313 Pathogenic: Glycosylphosphatidylinositol biosynthesis defect 17 67,600,203(-) T/A
NM_004569.5(PIGH):c.1A>T (p.Met1Leu)
INITIATIOR_CODON_VARIANT,MISSENSE
rs776038451 Pathogenic: Glycosylphosphatidylinositol biosynthesis defect 17. Glycosylphosphatidylinositol biosynthesis defect 17 (GPIBD17) [MIM:618010] 67,593,826(-) A/Gp.Ser103Pro
NM_004569.5(PIGH):c.307T>C (p.Ser103Pro)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PIGH Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for PIGH Gene

Variant ID Type Subtype PubMed ID
dgv138n21 CNV loss 19592680
esv3892557 CNV gain 25118596
nsv456331 CNV gain 19166990
nsv470651 CNV gain 18288195
nsv564961 CNV gain 21841781

Variation tolerance for PIGH Gene

Residual Variation Intolerance Score: 59.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.37; 8.16% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PIGH Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PIGH
Leiden Open Variation Database (LOVD)
PIGH

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PIGH Gene

Disorders for PIGH Gene

MalaCards: The human disease database

(6) MalaCards diseases for PIGH Gene - From: OMI, CVR, GTR, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search PIGH in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PIGH_HUMAN
  • Glycosylphosphatidylinositol biosynthesis defect 17 (GPIBD17) [MIM:618010]: An autosomal recessive disorder characterized by variable neurologic deficits that become apparent in infancy or early childhood. Clinical features include learning disabilities, mild-to-moderate developmental delay, seizures of variable severity, aggressive or over-friendly behavior, and autistic features. {ECO:0000269 PubMed:29573052, ECO:0000269 PubMed:29603516}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for PIGH

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with PIGH: view

No data available for Genatlas for PIGH Gene

Publications for PIGH Gene

  1. A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephaly. (PMID: 29573052) Pagnamenta AT … Taylor JC (Human mutation 2018) 3 4 72
  2. Chromosomal assignment of genes involved in glycosylphosphatidylinositol anchor biosynthesis: implications for the pathogenesis of paroxysmal nocturnal hemoglobinuria. (PMID: 8204896) Ware RE … Seldin MF (Blood 1994) 2 3 22
  3. A PIGH mutation leading to GPI deficiency is associated with developmental delay and autism. (PMID: 29603516) Nguyen TTM … Campeau PM (Human mutation 2018) 3 4
  4. The initial enzyme for glycosylphosphatidylinositol biosynthesis requires PIG-Y, a seventh component. (PMID: 16162815) Murakami Y … Kinoshita T (Molecular biology of the cell 2005) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for PIGH Gene

Sources for PIGH Gene