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Aliases for PIGH Gene

Aliases for PIGH Gene

  • Phosphatidylinositol Glycan Anchor Biosynthesis Class H 2 3 5
  • PIG-H 3 4
  • Phosphatidylinositol N-Acetylglucosaminyltransferase Subunit H 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
  • EC 2.4.1.198 4
  • GPI-H 3

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. Among its related pathways are Metabolism of proteins 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 for PIGH Gene

  • Part of the complex catalyzing the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol, the first step of GPI biosynthesis.

Gene Wiki entry for PIGH Gene

Additional gene information for PIGH Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PIGH Gene

Genomics for PIGH Gene

GeneHancer (GH) Regulatory Elements for PIGH Gene

Promoters and enhancers for PIGH Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J067599 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 662 +0.1 100 2.1 PKNOX1 ARID4B SIN3A DMAP1 YY1 ZNF207 ZNF143 SP3 MXD4 REST PIGH LOC105370543 ZFYVE26 HMGB1P34 ENSG00000259502 PIR48522
GH14J067673 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 15.7 -74.3 -74292 2.5 ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 ZNF766 ZNF207 VTI1B PIGH RDH11 RDH12 RN7SL369P ZFYVE26 ARG2 EIF2S1 GC14M067658 ENSG00000258466
GH14J067692 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE 10.7 -94.3 -94330 3.5 HDGF PKNOX1 FOXA2 ARID4B SIN3A DMAP1 YY1 SLC30A9 POLR2B ZNF207 RDH11 PIGH ARG2 RDH12 ENSG00000259502 PLEK2 ENSG00000258466
GH14J067721 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 10.5 -122.1 -122052 0.9 IRF2 AFF1 SUZ12 SAP130 HCFC1 MAFG SIX5 ETS1 MAFF ZNF316 RDH12 ENSG00000201529 ARG2 PIGH VTI1B RPL21P9 ENSG00000271697
GH14J067729 Enhancer 1.1 Ensembl ENCODE 11.3 -129.2 -129214 1 ELF3 SIN3A DMAP1 RAD21 THRB ZNF48 RARA YY1 EGR1 ZNF143 PIGH RDH11 ENSG00000271697 RPL21P9 RDH12 ZFYVE26
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for PIGH Gene

Genomic Locations for PIGH Gene
chr14:67,581,955-67,600,300
(GRCh38/hg38)
Size:
18,346 bases
Orientation:
Minus strand
chr14:68,048,672-68,067,017
(GRCh37/hg19)
Size:
18,346 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:
    • Associates with PIGA, PIGC, PIGP, PIGQ and DPM2. The latter is not essential for activity.

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

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PIGH Gene

GenScript: Design optimal peptide antigens:

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 complex catalyzing the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol, the first step of GPI biosynthesis.
UniProtKB/Swiss-Prot CatalyticActivity:
UDP-N-acetyl-D-glucosamine + 1-phosphatidyl-1D-myo-inositol = UDP + 6-(N-acetyl-alpha-D-glucosaminyl)-1-phosphatidyl-1D-myo-inositol.
GENATLAS Biochemistry:
glycosyl-phosphatidylinositol (GPI) anchor synthesis,class H

Enzyme Numbers (IUBMB) for PIGH Gene

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

Animal Models for PIGH Gene

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

Animal Model Products

miRNA for PIGH Gene

miRTarBase miRNAs that target PIGH

Clone Products

No data available for Human Phenotype Ontology , 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 5
plasma membrane 3

Gene Ontology (GO) - Cellular Components for PIGH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000506 glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex 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 TAS 8900170
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Sphingosine Experimental Pharma 0
Uridine 5'-diphosphate Experimental Pharma 0
sphinganine Pharma 0
Sphingosine-1-phosphate Pharma Full agonist, Agonist endogenous second messenger and ligand for S1PR1, Endogenous agonist at S1P1-5 0

(897) 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
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
852100-88-0
3-O-Sulfogalactosylceramide (d18:1/14:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
3-O-Sulfogalactosylceramide (d18:1/16:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
862509-48-6
3-O-Sulfogalactosylceramide (d18:1/18:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
244215-65-4
genes like me logo Genes that share compounds with PIGH: view

Transcripts for PIGH Gene

Unigene Clusters for PIGH Gene

Phosphatidylinositol glycan anchor biosynthesis, class H:
Representative Sequences:

Clone Products

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
ECgene alternative splicing isoforms for
PIGH

Expression for PIGH Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of PIGH Gene:

PIGH

SOURCE GeneReport for Unigene cluster for PIGH Gene:

Hs.553497

Evidence on tissue expression from TISSUES for PIGH Gene

  • Nervous system(4.4)
  • Lung(4.2)
  • Blood(4)
  • Kidney(3.1)
genes like me logo Genes that share expression patterns with PIGH: view

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 34 33
  • 100 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PIGH 34 33
  • 93.97 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PIGH 34 33
  • 91.84 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PIGH 34
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pigh 33
  • 89.13 (n)
mouse
(Mus musculus)
Mammalia Pigh 16 34 33
  • 87.34 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PIGH 34
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves PIGH 34 33
  • 70.27 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PIGH 34
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pigh 33
  • 63.7 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.14210 33
zebrafish
(Danio rerio)
Actinopterygii pigh 34 33
  • 61.69 (n)
OneToOne
Species where no ortholog for PIGH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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

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 from dbSNP and Humsavar for PIGH Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs193920948 uncertain-significance, Malignant tumor of prostate 67,592,638(-) G/C coding_sequence_variant, missense_variant
rs1000295949 -- 67,594,210(-) G/A intron_variant
rs1001050544 -- 67,599,980(-) G/T intron_variant
rs1001375467 -- 67,596,130(-) G/C intron_variant
rs1001594273 -- 67,595,709(-) T/C intron_variant

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for PIGH Gene

Additional Disease Information for PIGH

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for PIGH Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PIGH Gene

Publications for PIGH Gene

  1. 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 58
  2. 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 58
  3. Initial enzyme for glycosylphosphatidylinositol biosynthesis requires PIG-P and is regulated by DPM2. (PMID: 10944123) Watanabe R … Kinoshita T (The EMBO journal 2000) 3 22 58
  4. The first step of glycosylphosphatidylinositol biosynthesis is mediated by a complex of PIG-A, PIG-H, PIG-C and GPI1. (PMID: 9463366) Watanabe R … Kinoshita T (The EMBO journal 1998) 3 4 58
  5. PIG-A and PIG-H, which participate in glycosylphosphatidylinositol anchor biosynthesis, form a protein complex in the endoplasmic reticulum. (PMID: 8900170) Watanabe R … Inoue N (The Journal of biological chemistry 1996) 3 22 58

Products for PIGH Gene

Sources for PIGH Gene

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