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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 Glycosylphosphatidylinositol (GPI)-anchor biosynthesis and Metabolism of proteins. 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

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

Genomics for PIGH Gene

Regulatory Elements for PIGH Gene

Enhancers for PIGH Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14F067665 0.8 Ensembl ENCODE 17.8 -66.6 -66558 2.1 CTCF TFAP4 ZNF654 ARID4B TRIM22 REST RAD21 YY1 ZNF316 IKZF1 ARG2 PIGH ENSG00000201529 RDH11 RDH12 RN7SL369P VTI1B GC14M067658
GH14F067673 0.6 ENCODE 15.7 -74.3 -74293 2.5 PKNOX1 CREB3L1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 PIGH RDH11 RDH12 RN7SL369P RN7SL213P ARG2 EIF2S1 VTI1B GC14M067658
GH14F067599 0.4 ENCODE 12 +0.1 100 2.1 ATF1 PKNOX1 ARID4B SIN3A DMAP1 ZNF48 YY1 GLIS2 ELK1 ZNF143 PIGH HMGB1P34 ENSG00000259502 PIR48522
GH14F067668 0.4 ENCODE 11.7 -68.2 -68188 0.8 MTA2 JUNB EBF1 TBX21 RAD51 JUND IKZF1 TARDBP NBN MLLT1 ARG2 RDH11 ENSG00000201529 PIGH RDH12 RN7SL369P VTI1B GC14M067658
GH14F067703 1.2 Ensembl ENCODE 11.7 -104.1 -104101 1.2 ZSCAN5A CTCF SAP130 ZNF266 RAD21 RFX5 ZNF664 ZBTB48 SCRT2 ZNF143 ARG2 PIGH ENSG00000201529 PLEK2 RDH12 RN7SL369P
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around PIGH on UCSC Golden Path with GeneCards custom track

Promoters for PIGH Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001458260 300 2000 ATF1 PKNOX1 ARID4B SIN3A DMAP1 ZNF48 YY1 GLIS2 ELK1 ZNF143

Genomic Location for PIGH Gene

Chromosome:
14
Start:
67,581,955 bp from pter
End:
67,600,300 bp from pter
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 Lys 182
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PIGH Gene

Domains & Families for PIGH Gene

Gene Families for PIGH Gene

Protein Domains for PIGH Gene

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

GENATLAS Biochemistry:
glycosyl-phosphatidylinositol (GPI) anchor synthesis,class H
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.
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.

Enzyme Numbers (IUBMB) 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 tm1.1(KOMP)Vlcg

Animal Model Products

miRNA for PIGH Gene

miRTarBase miRNAs that target PIGH

Inhibitory RNA Products

Flow Cytometry 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
Jensen Localization Image for PIGH Gene 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

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

(4) Drugs for PIGH Gene - From: HMDB

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

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-Dehydrosphinganine
  • (2S)-2-amino-1-hydroxyoctadecan-3-one
  • 1-Hydroxy-2-amino-3-oxo-octadecane
  • 2-Amino-1-hydroxy-3-Octadecanone
  • 3-Dehydro-D-sphinganine
  • 3-Dehydrosphinganine
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:

Inhibitory RNA Products

Flow Cytometry 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 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, PaxDb, 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
genes like me logo Genes that share expression patterns with PIGH: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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 35
  • 100 (n)
dog
(Canis familiaris)
Mammalia PIGH 34 35
  • 93.97 (n)
cow
(Bos Taurus)
Mammalia PIGH 34 35
  • 91.84 (n)
oppossum
(Monodelphis domestica)
Mammalia PIGH 35
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pigh 34
  • 89.13 (n)
mouse
(Mus musculus)
Mammalia Pigh 34 16 35
  • 87.34 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PIGH 35
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves PIGH 34 35
  • 70.27 (n)
lizard
(Anolis carolinensis)
Reptilia PIGH 35
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pigh 34
  • 63.7 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.14210 34
zebrafish
(Danio rerio)
Actinopterygii pigh 34 35
  • 61.69 (n)
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)

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 Sequence Context AA Info Type
rs193920948 Uncertain significance 67,592,638(-) GTCTT(C/G)CAGGT intron-variant, reference, missense
rs10129995 -- 67,601,873(+) CTATA(C/T)TCATT intron-variant, upstream-variant-2KB
rs10131404 -- 67,599,127(+) AAAGC(A/G)AATGG intron-variant, upstream-variant-2KB
rs10133858 -- 67,599,535(+) GAACT(A/C)TAACA intron-variant, upstream-variant-2KB
rs10134513 -- 67,600,063(+) CACAC(A/C)GTGCA intron-variant, upstream-variant-2KB, reference, synonymous-codon

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)

Relevant External Links for PIGH Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PIGH

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

Disorders for PIGH Gene

Relevant External Links for PIGH

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

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 R.E. … Seldin M.F. (Blood 1994) 2 3 22 64
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  3. Initial enzyme for glycosylphosphatidylinositol biosynthesis requires PIG-P and is regulated by DPM2. (PMID: 10944123) Watanabe R. … Kinoshita T. (EMBO J. 2000) 3 22 64
  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. (EMBO J. 1998) 3 4 64
  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. (J. Biol. Chem. 1996) 3 22 64

Products for PIGH Gene

Sources for PIGH Gene

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