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Aliases for PIGO Gene

Aliases for PIGO Gene

  • Phosphatidylinositol Glycan Anchor Biosynthesis Class O 2 3 5
  • Phosphatidylinositol-Glycan Biosynthesis Class O Protein 3 4
  • Phosphatidylinositol Glycan Anchor Biosynthesis, Class O 3
  • Phosphatidylinositol Glycan, Class O 2
  • EC 2.-.-.- 4
  • HPMRS2 3
  • PIG-O 4

External Ids for PIGO Gene

Previous GeneCards Identifiers for PIGO Gene

  • GC09M035400
  • GC09M035258
  • GC00U912968
  • GC09M035079
  • GC09M035080
  • GC09M035081

Summaries for PIGO Gene

Entrez Gene Summary for PIGO Gene

  • This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid which contains three mannose molecules in its core backbone. The GPI-anchor is found on many blood cells and serves to anchor proteins to the cell surface. This protein is involved in the transfer of ethanolaminephosphate (EtNP) to the third mannose in GPI. At least three alternatively spliced transcripts encoding two distinct isoforms have been found for this gene. [provided by RefSeq, Jan 2011]

GeneCards Summary for PIGO Gene

PIGO (Phosphatidylinositol Glycan Anchor Biosynthesis Class O) is a Protein Coding gene. Diseases associated with PIGO include Hyperphosphatasia With Mental Retardation Syndrome 2 and Hyperphosphatasia-Intellectual Disability Syndrome. Among its related pathways are Post-translational modification- synthesis of GPI-anchored proteins and Metabolism. GO annotations related to this gene include transferase activity and sulfuric ester hydrolase activity.

UniProtKB/Swiss-Prot for PIGO Gene

  • Ethanolamine phosphate transferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers ethanolamine phosphate to the GPI third mannose which links the GPI-anchor to the C-terminus of the proteins by an amide bond (By similarity).

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

Genomics for PIGO Gene

Regulatory Elements for PIGO Gene

Enhancers for PIGO Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PIGO on UCSC Golden Path with GeneCards custom track

Promoters for PIGO Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PIGO on UCSC Golden Path with GeneCards custom track

Genomic Location for PIGO Gene

Chromosome:
9
Start:
35,088,688 bp from pter
End:
35,096,601 bp from pter
Size:
7,914 bases
Orientation:
Minus strand

Genomic View for PIGO Gene

Genes around PIGO on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for PIGO Gene

Proteins for PIGO Gene

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

    Protein Symbol:
    Q8TEQ8-PIGO_HUMAN
    Recommended name:
    GPI ethanolamine phosphate transferase 3
    Protein Accession:
    Q8TEQ8
    Secondary Accessions:
    • B1AML3
    • Q6P154
    • Q6UX80
    • Q8TDS8
    • Q96CS9
    • Q9BVN9
    • Q9Y4B0

    Protein attributes for PIGO Gene

    Size:
    1089 amino acids
    Molecular mass:
    118699 Da
    Quaternary structure:
    • Forms a complex with PIGF. PIGF is required to stabilize PIGO (By similarity).
    SequenceCaution:
    • Sequence=AAC07985.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=AAH01030.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH13987.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB84890.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305}; Sequence=BAC03414.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305}; Sequence=CAD38806.1; Type=Frameshift; Positions=46; Evidence={ECO:0000305};

    Alternative splice isoforms for PIGO Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PIGO Gene

Proteomics data for PIGO Gene at MOPED

Post-translational modifications for PIGO Gene

  • Ubiquitination at Lys 103, Lys 136, and Lys 391
  • Glycosylation at Asn 268
  • Modification sites at PhosphoSitePlus

Other Protein References for PIGO Gene

Antibody Products

  • Abcam antibodies for PIGO

No data available for DME Specific Peptides for PIGO Gene

Domains & Families for PIGO Gene

Gene Families for PIGO Gene

Suggested Antigen Peptide Sequences for PIGO Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8TEQ8

UniProtKB/Swiss-Prot:

PIGO_HUMAN :
  • Belongs to the PIGG/PIGN/PIGO family. PIGO subfamily.
Family:
  • Belongs to the PIGG/PIGN/PIGO family. PIGO subfamily.
genes like me logo Genes that share domains with PIGO: view

Function for PIGO Gene

Molecular function for PIGO Gene

UniProtKB/Swiss-Prot Function:
Ethanolamine phosphate transferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers ethanolamine phosphate to the GPI third mannose which links the GPI-anchor to the C-terminus of the proteins by an amide bond (By similarity).

Enzyme Numbers (IUBMB) for PIGO Gene

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

Human Phenotype Ontology for PIGO Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for PIGO

miRNA for PIGO Gene

miRTarBase miRNAs that target PIGO

No data available for Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for PIGO Gene

Localization for PIGO Gene

Subcellular locations from UniProtKB/Swiss-Prot for PIGO Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PIGO Gene COMPARTMENTS Subcellular localization image for PIGO gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
nucleus 2
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for PIGO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with PIGO: view

Pathways & Interactions for PIGO Gene

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

UniProtKB/Swiss-Prot Q8TEQ8-PIGO_HUMAN

  • Pathway: Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.

Interacting Proteins for PIGO Gene

Selected Interacting proteins: Q8TEQ8-PIGO_HUMAN for PIGO Gene via I2D

Gene Ontology (GO) - Biological Process for PIGO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006506 GPI anchor biosynthetic process ISS --
GO:0016254 preassembly of GPI anchor in ER membrane TAS --
GO:0043687 post-translational protein modification TAS --
genes like me logo Genes that share ontologies with PIGO: view

No data available for SIGNOR curated interactions for PIGO Gene

Drugs & Compounds for PIGO Gene

(3) Drugs for PIGO Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Sphingosine Experimental Pharma 0
sphinganine Pharma 0
Sphingosine-1-phosphate Pharma Full agonist, Agonist Endogenous agonist at S1P1-5 0

(841) Additional Compounds for PIGO Gene - From: HMDB

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 PIGO: view

Transcripts for PIGO Gene

Unigene Clusters for PIGO Gene

Phosphatidylinositol glycan anchor biosynthesis, class O:
Representative Sequences:

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

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b · 14c
SP1: -
SP2: -
SP3:
SP4: - - -
SP5:
SP6:
SP7: -

Relevant External Links for PIGO Gene

GeneLoc Exon Structure for
PIGO
ECgene alternative splicing isoforms for
PIGO

Expression for PIGO Gene

mRNA expression in normal human tissues for PIGO Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PIGO Gene

This gene is overexpressed in Nasal epithelium (64.9).

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



SOURCE GeneReport for Unigene cluster for PIGO Gene Hs.522099

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

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for PIGO Gene

Orthologs for PIGO Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PIGO Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PIGO 35
  • 86.66 (n)
  • 82.43 (a)
PIGO 36
  • 78 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PIGO 35
  • 89.3 (n)
  • 89.24 (a)
PIGO 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pigo 35
  • 84.82 (n)
  • 86.23 (a)
Pigo 16
Pigo 36
  • 85 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PIGO 35
  • 99.45 (n)
  • 99.45 (a)
PIGO 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pigo 35
  • 85.03 (n)
  • 86.69 (a)
oppossum
(Monodelphis domestica)
Mammalia PIGO 36
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves PIGO 35
  • 63.41 (n)
  • 59.01 (a)
PIGO 36
  • 56 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PIGO 36
  • 50 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pigo 35
  • 57.81 (n)
  • 54.68 (a)
Str.5464 35
zebrafish
(Danio rerio)
Actinopterygii Dr.15174 35
pigo 35
  • 53.21 (n)
  • 46.64 (a)
pigo 36
  • 44 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006269 35
  • 45.72 (n)
  • 35.49 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG12263 35
  • 44.88 (n)
  • 34.44 (a)
CG12263 36
  • 30 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C27A12.9 35
  • 45.85 (n)
  • 39.17 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GPI13 36
  • 25 (a)
OneToMany
GPI13 38
rice
(Oryza sativa)
Liliopsida Os.7453 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 45 (a)
OneToOne
Species with no ortholog for PIGO:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)

Evolution for PIGO Gene

ENSEMBL:
Gene Tree for PIGO (if available)
TreeFam:
Gene Tree for PIGO (if available)

Paralogs for PIGO Gene

No data available for Paralogs for PIGO Gene

Variants for PIGO Gene

Sequence variations from dbSNP and Humsavar for PIGO Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
VAR_036332 A colorectal cancer sample
VAR_068809 Hyperphosphatasia with mental retardation syndrome 2 (HPMRS2)
VAR_071074 -
rs7851344 -- 35,098,558(+) AGGCT(C/G)AGGCG upstream-variant-2KB
rs113007517 -- 35,095,308(+) GAATG(C/T)TGGGG nc-transcript-variant, reference, synonymous-codon

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

Variant ID Type Subtype PubMed ID
nsv893043 CNV Gain 21882294
nsv893044 CNV Loss 21882294

Variation tolerance for PIGO Gene

Residual Variation Intolerance Score: 3.55% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.32; 41.37% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PIGO Gene

Human Gene Mutation Database (HGMD)
PIGO

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

Disorders for PIGO Gene

MalaCards: The human disease database

(3) MalaCards diseases for PIGO Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, and GeneCards

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

UniProtKB/Swiss-Prot

PIGO_HUMAN
  • Hyperphosphatasia with mental retardation syndrome 2 (HPMRS2) [MIM:614749]: An autosomal recessive form of intellectual disability characterized by facial dysmorphism, brachytelephalangy, and persistent elevated serum alkaline phosphatase (hyperphosphatasia). Some patients may have additional features, such as cardiac septal defects or seizures. {ECO:0000269 PubMed:22683086}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PIGO

Genetic Association Database (GAD)
PIGO
Human Genome Epidemiology (HuGE) Navigator
PIGO
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PIGO
genes like me logo Genes that share disorders with PIGO: view

No data available for Genatlas for PIGO Gene

Publications for PIGO Gene

  1. PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels. (PMID: 24417746) Nakamura K. … Saitsu H. (Epilepsia 2014) 3 4 67
  2. Requirement of PIG-F and PIG-O for transferring phosphoethanolamine to the third mannose in glycosylphosphatidylinositol. (PMID: 10781593) Hong Y. … Kinoshita T. (J. Biol. Chem. 2000) 2 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation. (PMID: 22683086) Krawitz P.M. … Horn D. (Am. J. Hum. Genet. 2012) 3
  5. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PMID: 21832049) OlA!h J. … OvA!di J. (J. Biol. Chem. 2011) 3

Products for PIGO Gene

Sources for PIGO Gene

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