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Aliases for PIGH Gene

Aliases for PIGH Gene

  • Phosphatidylinositol Glycan Anchor Biosynthesis, Class H 2 3
  • Phosphatidylinositol-Glycan Biosynthesis Class H Protein 3 4
  • Phosphatidylinositol Glycan, Class H 2 3
  • PIG-H 3 4
  • Phosphatidylinositol N-Acetylglucosaminyltransferase Subunit 2
  • Phosphatidylinositol-Glycan Biosynthesis, Class H Protein 3
  • 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 Transport to the Golgi and subsequent modification and Metabolism. 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for PIGH Gene at MOPED

Post-translational modifications for PIGH Gene

  • Ubiquitination at Lys 182
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for PIGH

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

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

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:0017176 phosphatidylinositol N-acetylglucosaminyltransferase activity IEA --
genes like me logo Genes that share ontologies with PIGH: view

Phenotypes for PIGH Gene

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

Animal Model Products

miRNA for PIGH Gene

miRTarBase miRNAs that target PIGH

No data available for Animal Models , 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

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:0005783 endoplasmic reticulum TAS 8900170
GO:0005789 endoplasmic reticulum membrane TAS --
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:0006501 C-terminal protein lipidation TAS --
GO:0006506 GPI anchor biosynthetic process TAS 8900170
GO:0008152 metabolic process --
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 Agonist 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:

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 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, MOPED, and MaxQB for PIGH Gene



SOURCE GeneReport for Unigene cluster for PIGH Gene Hs.553497

genes like me logo Genes that share expression patterns with PIGH: view

Protein tissue co-expression partners for PIGH Gene

- Elite partner

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia PIGH 35
  • 91.84 (n)
  • 95.74 (a)
PIGH 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PIGH 35
  • 93.97 (n)
  • 97.34 (a)
PIGH 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pigh 35
  • 87.34 (n)
  • 88.77 (a)
Pigh 16
Pigh 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PIGH 35
  • 100 (n)
  • 100 (a)
PIGH 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pigh 35
  • 89.13 (n)
  • 91.98 (a)
oppossum
(Monodelphis domestica)
Mammalia PIGH 36
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PIGH 36
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves PIGH 35
  • 70.27 (n)
  • 71.35 (a)
PIGH 36
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PIGH 36
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pigh 35
  • 63.7 (n)
  • 63.89 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.14210 35
zebrafish
(Danio rerio)
Actinopterygii pigh 35
  • 61.69 (n)
  • 59.12 (a)
pigh 36
  • 59 (a)
OneToOne
Species with no ortholog for PIGH:
  • 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 MAF
rs2038490 -- 67,593,658(-) AAACC(A/G)TAAAA intron-variant
rs2038491 -- 67,591,159(-) TCTTA(C/T)TTTAA intron-variant
rs2145468 -- 67,595,913(-) CTTTT(A/C)TATTA intron-variant
rs2319844 -- 67,598,317(+) AGAGA(C/T)AAGTA intron-variant
rs4899210 -- 67,590,855(+) CTCCA(C/T)CTCTA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv456331 CNV Gain 19166990
nsv470651 CNV Gain 18288195
nsv902066 CNV Gain 21882294
dgv138n21 CNV Loss 19592680

Variation tolerance for PIGH Gene

Residual Variation Intolerance Score: 59.94% 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

HapMap Linkage Disequilibrium report
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
genes like me logo Genes that share disorders with PIGH: view

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 23 67
  2. The GPI1 homologue from Plasmodium falciparum complements a Saccharomyces cerevisiae GPI1 anchoring mutant. (PMID: 11849707) Shams-Eldin H. … Schwarz R.T. (Mol. Biochem. Parasitol. 2002) 23 67
  3. Characterisation of the enzymatic complex for the first step in glycosylphosphatidylinositol biosynthesis. (PMID: 10716631) Tiede A. … Schmidt R.E. (Int. J. Biochem. Cell Biol. 2000) 23 67
  4. Initial enzyme for glycosylphosphatidylinositol biosynthesis requires PIG-P and is regulated by DPM2. (PMID: 10944123) Watanabe R. … Kinoshita T. (EMBO J. 2000) 23 67
  5. Human and mouse Gpi1p homologues restore glycosylphosphatidylinositol membrane anchor biosynthesis in yeast mutants. (PMID: 9729469) Tiede A. … Schmidt R.E. (Biochem. J. 1998) 23 67

Products for PIGH Gene

Sources for PIGH Gene

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