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Aliases for PIGT Gene

Aliases for PIGT Gene

  • Phosphatidylinositol Glycan Anchor Biosynthesis Class T 2 3 5
  • Phosphatidylinositol-Glycan Biosynthesis Class T Protein 3 4
  • GPI Transamidase Subunit 2 3
  • Neurotrophin-Regulated Neuronal Development-Associated Protein 3
  • Phosphatidylinositol Glycan Anchor Biosynthesis, Class T 3
  • Phosphatidylinositol Glycan, Class T 2
  • CGI-06 3
  • MCAHS3 3
  • NDAP 3
  • PNH2 3

External Ids for PIGT Gene

Previous GeneCards Identifiers for PIGT Gene

  • GC20P043773
  • GC20P044683
  • GC20P044730
  • GC20P043478
  • GC20P044044
  • GC20P040786

Summaries for PIGT Gene

Entrez Gene Summary for PIGT Gene

  • This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is an essential component of the multisubunit enzyme, GPI transamidase. GPI transamidase mediates GPI anchoring in the endoplasmic reticulum, by catalyzing the transfer of fully assembled GPI units to proteins. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]

GeneCards Summary for PIGT Gene

PIGT (Phosphatidylinositol Glycan Anchor Biosynthesis Class T) is a Protein Coding gene. Diseases associated with PIGT include multiple congenital anomalies-hypotonia-seizures syndrome 3 and paroxysmal nocturnal hemoglobinuria 2. Among its related pathways are Metabolism and Transport to the Golgi and subsequent modification. GO annotations related to this gene include GPI-anchor transamidase activity.

UniProtKB/Swiss-Prot for PIGT Gene

  • Component of the GPI transamidase complex. Essential for transfer of GPI to proteins, particularly for formation of carbonyl intermediates.

Gene Wiki entry for PIGT Gene

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

Genomics for PIGT Gene

Regulatory Elements for PIGT Gene

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

ENSRs around PIGT on UCSC Golden Path with GeneCards custom track

Genomic Location for PIGT Gene

Chromosome:
20
Start:
45,416,067 bp from pter
End:
45,426,245 bp from pter
Size:
10,179 bases
Orientation:
Plus strand

Genomic View for PIGT Gene

Genes around PIGT on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for PIGT Gene

Proteins for PIGT Gene

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

    Protein Symbol:
    Q969N2-PIGT_HUMAN
    Recommended name:
    GPI transamidase component PIG-T
    Protein Accession:
    Q969N2
    Secondary Accessions:
    • B2RND5
    • B7Z3N1
    • B7Z7I8
    • E1P622
    • G8JLF5
    • Q2NL69
    • Q7Z3N7
    • Q9BQY7
    • Q9BQY8
    • Q9UJG6
    • Q9Y2Z5

    Protein attributes for PIGT Gene

    Size:
    578 amino acids
    Molecular mass:
    65700 Da
    Quaternary structure:
    • Forms a complex with PIGK/GPI8, PIGS, PIGU and GPAA1/GAA1. Has a critical role in maintaining the complex by stabilizing the expression of GPAA1 and GPI8 and linking them to PIGS.
    SequenceCaution:
    • Sequence=AAD27715.1; Type=Frameshift; Positions=5, 27; Evidence={ECO:0000305}; Sequence=AAQ88951.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAB57341.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for PIGT Gene

neXtProt entry for PIGT Gene

Proteomics data for PIGT Gene at MOPED

Post-translational modifications for PIGT Gene

  • The disulfide bond between PIGK/GPI8 and PIGT is important for normal enzyme activity.
  • Ubiquitination at Lys 337, Lys 339, and Lys 365
  • Glycosylation at Asn 164, Asn 291, and Asn 327
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for PIGT Gene

Domains & Families for PIGT Gene

Gene Families for PIGT Gene

Protein Domains for PIGT Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q969N2

UniProtKB/Swiss-Prot:

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

Function for PIGT Gene

Molecular function for PIGT Gene

UniProtKB/Swiss-Prot Function:
Component of the GPI transamidase complex. Essential for transfer of GPI to proteins, particularly for formation of carbonyl intermediates.
genes like me logo Genes that share phenotypes with PIGT: view

Human Phenotype Ontology for PIGT Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for PIGT

miRNA for PIGT Gene

miRTarBase miRNAs that target PIGT

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

Localization for PIGT Gene

Subcellular locations from UniProtKB/Swiss-Prot for PIGT Gene

Endoplasmic reticulum membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PIGT Gene COMPARTMENTS Subcellular localization image for PIGT gene
Compartment Confidence
endoplasmic reticulum 5
lysosome 3
vacuole 3
extracellular 2
plasma membrane 2
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for PIGT Gene

Pathways & Interactions for PIGT Gene

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

UniProtKB/Swiss-Prot Q969N2-PIGT_HUMAN

  • Pathway: Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.

Gene Ontology (GO) - Biological Process for PIGT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016255 attachment of GPI anchor to protein IEA,TAS 11483512
GO:0044267 cellular protein metabolic process TAS --
genes like me logo Genes that share ontologies with PIGT: view

No data available for SIGNOR curated interactions for PIGT Gene

Drugs & Compounds for PIGT Gene

(3) Drugs for PIGT 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 PIGT 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 PIGT: view

Transcripts for PIGT Gene

Unigene Clusters for PIGT Gene

Phosphatidylinositol glycan anchor biosynthesis, class T:
Representative Sequences:

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

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2a · 2b · 2c · 2d ^ 3a · 3b · 3c ^ 4a · 4b · 4c · 4d ^ 5a · 5b · 5c ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a ·
SP1: - - - -
SP2: - - - - - - -
SP3: - - -
SP4: - - - - - - - - - -
SP5: - - - - -
SP6: - - - - - - - - -
SP7: - - - - - - - -
SP8: - - - -
SP9: - -
SP10: - - - - - - - - -
SP11: - - - - - - -
SP12: - - - - - - - - - -
SP13: - - - - -
SP14: - - - -
SP15: - - - - - - - -
SP16: - - - -
SP17:
SP18: - - -
SP19:
SP20:
SP21: - - - - -
SP22:

ExUns: 8b · 8c · 8d ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b ^ 13
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17: - -
SP18:
SP19: -
SP20: - - -
SP21:
SP22:

Relevant External Links for PIGT Gene

GeneLoc Exon Structure for
PIGT
ECgene alternative splicing isoforms for
PIGT

Expression for PIGT Gene

mRNA expression in normal human tissues for PIGT Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PIGT Gene

This gene is overexpressed in Bone (8.3).

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



SOURCE GeneReport for Unigene cluster for PIGT Gene Hs.437388

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

Protein tissue co-expression partners for PIGT Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PIGT Gene

Orthologs for PIGT Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PIGT Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PIGT 36
  • 100 (a)
OneToOne
PIGT 35
  • 99.77 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia PIGT 36
  • 93 (a)
OneToOne
PIGT 35
  • 90.23 (n)
  • 93.88 (a)
dog
(Canis familiaris)
Mammalia PIGT 35
  • 88.91 (n)
  • 93.07 (a)
PIGT 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pigt 16
Pigt 35
  • 88.31 (n)
  • 95.14 (a)
Pigt 36
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PIGT 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PIGT 36
  • 85 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pigt 35
  • 89.21 (n)
  • 95.68 (a)
chicken
(Gallus gallus)
Aves PIGT 35
  • 74.46 (n)
  • 77.72 (a)
PIGT 36
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PIGT 36
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pigt 35
  • 69 (n)
  • 73.02 (a)
Str.4301 35
zebrafish
(Danio rerio)
Actinopterygii pigt 35
  • 67.82 (n)
  • 69.64 (a)
pigt 36
  • 61 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008540 35
  • 53.39 (n)
  • 43 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG11190 36
  • 34 (a)
OneToOne
CG11190 35
  • 50.72 (n)
  • 40 (a)
worm
(Caenorhabditis elegans)
Secernentea F17C11.7 36
  • 26 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR333C 35
  • 48.3 (n)
  • 35.67 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GPI16 35
  • 46.78 (n)
  • 39.37 (a)
GPI16 36
  • 28 (a)
OneToOne
GPI16 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A09515g 35
  • 45.26 (n)
  • 36.61 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G07140 35
  • 46.69 (n)
  • 38.75 (a)
rice
(Oryza sativa)
Liliopsida Os11g0479232 35
  • 45.07 (n)
  • 36.31 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU05644 35
  • 50.32 (n)
  • 37.64 (a)
Species with no ortholog for PIGT:
  • 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)
  • 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)
  • 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 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PIGT Gene

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

Paralogs for PIGT Gene

No data available for Paralogs for PIGT Gene

Variants for PIGT Gene

Sequence variations from dbSNP and Humsavar for PIGT Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
VAR_053583 -
VAR_070448 Multiple congenital anomalies-hypotonia-seizures syndrome 3 (MCAHS3)
rs2741569 -- 45,422,577(-) ctgta(G/T)tccta intron-variant
rs2741570 -- 45,420,493(-) AAGCA(A/G)AGAGG intron-variant
rs2741571 -- 45,420,489(-) AAAGA(A/G)GGTAG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv912892 CNV Loss 21882294

Variation tolerance for PIGT Gene

Residual Variation Intolerance Score: 34.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.52; 64.67% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PIGT Gene

HapMap Linkage Disequilibrium report
PIGT
Human Gene Mutation Database (HGMD)
PIGT

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

Disorders for PIGT Gene

MalaCards: The human disease database

(7) MalaCards diseases for PIGT Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

UniProtKB/Swiss-Prot

PIGT_HUMAN
  • Multiple congenital anomalies-hypotonia-seizures syndrome 3 (MCAHS3) [MIM:615398]: An autosomal recessive syndrome characterized by distinct facial features, intellectual disability, hypotonia and seizures, in combination with abnormal skeletal, endocrine, and ophthalmologic findings including impaired vision, as well as abnormal motility of the eyes. {ECO:0000269 PubMed:23636107}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Paroxysmal nocturnal hemoglobinuria 2 (PNH2) [MIM:615399]: A disorder characterized by hemolytic anemia with hemoglobinuria, thromboses in large vessels, and a deficiency in hematopoiesis. Red blood cell breakdown with release of hemoglobin into the urine is manifested most prominently by dark-colored urine in the morning. {ECO:0000269 PubMed:23733340}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Relevant External Links for PIGT

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PIGT
genes like me logo Genes that share disorders with PIGT: view

No data available for Genatlas for PIGT Gene

Publications for PIGT Gene

  1. Two subunits of glycosylphosphatidylinositol transamidase, GPI8 and PIG-T, form a functionally important intermolecular disulfide bridge. (PMID: 12582175) Ohishi K. … Kinoshita T. (J. Biol. Chem. 2003) 3 4 23 67
  2. The novel neurotrophin-regulated neuronal development-associated protein, NDAP, mediates apoptosis. (PMID: 16516892) Li H.L. … Yu A.C. (FEBS Lett. 2006) 3 23
  3. Endoplasmic reticulum localization of Gaa1 and PIG-T, subunits of the glycosylphosphatidylinositol transamidase complex. (PMID: 15713669) Vainauskas S. … Menon A.K. (J. Biol. Chem. 2005) 2 3
  4. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for PIGT Gene

Sources for PIGT Gene

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