Free for academic non-profit institutions. Other users need a Commercial license

Aliases for PIGT Gene

Aliases for PIGT Gene

  • Phosphatidylinositol Glycan Anchor Biosynthesis, Class T 2 3
  • Phosphatidylinositol-Glycan Biosynthesis Class T Protein 3 4
  • GPI Transamidase Subunit 2 3
  • MCAHS3 3 6
  • NDAP 3 6
  • PNH2 3 6
  • Neurotrophin-Regulated Neuronal Development-Associated Protein 3
  • Phosphatidylinositol Glycan, Class T 2
  • GPI Transamidase Component PIG-T 3
  • CGI-06 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 paroxysmal nocturnal hemoglobinuria 2 and multiple congenital anomalies-hypotonia-seizures syndrome 3. Among its related pathways are Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein and Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein. 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

Epigenetics Products

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

Genomic Location for PIGT Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 Lys337, Lys339, and Lys365
  • Modification sites at PhosphoSitePlus

Other Protein References for PIGT Gene

No data available for DME Specific Peptides for PIGT Gene

Domains for PIGT Gene

Gene Families for PIGT Gene

HGNC:
  • PIG :Phosphatidylinositol glycan anchor biosynthesis

Protein Domains for PIGT Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q969N2

UniProtKB/Swiss-Prot:

PIGT_HUMAN :
  • Q969N2
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.

Gene Ontology (GO) - Molecular Function for PIGT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003923 contributes_to GPI-anchor transamidase activity TAS 11483512
GO:0005515 protein binding IPI 11483512
genes like me logo Genes that share ontologies with PIGT: view

Phenotypes for PIGT Gene

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

Animal Model Products

CRISPR Products

miRNA for PIGT Gene

miRTarBase miRNAs that target PIGT

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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
extracellular 2
plasma membrane 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for PIGT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IDA 19946888
GO:0016023 cytoplasmic membrane-bounded vesicle IEA --
GO:0030176 integral component of endoplasmic reticulum membrane NAS 12052837
genes like me logo Genes that share ontologies with PIGT: view

Pathways 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:0006501 C-terminal protein lipidation TAS --
GO:0016255 attachment of GPI anchor to protein TAS 11483512
GO:0030182 neuron differentiation IEA --
GO:0043687 post-translational protein modification TAS --
GO:0044267 cellular protein metabolic process TAS --
genes like me logo Genes that share ontologies with PIGT: view

Compounds for PIGT Gene

(898) HMDB Compounds for PIGT Gene

Compound Synonyms Cas Number PubMed IDs
3-Dehydrosphinganine
  • 1-Hydroxy-2-amino-3-oxo-octadecane
16105-69-4
3-O-Sulfogalactosylceramide (d18:1/12:0)
  • Sulfatide (d18:1/12:0)
852100-88-0
3-O-Sulfogalactosylceramide (d18:1/14:0)
  • Sulfatide (d18:1/14:0)
Not Available
3-O-Sulfogalactosylceramide (d18:1/16:0)
  • Sulfatide (d18:1/16:0)
862509-48-6
3-O-Sulfogalactosylceramide (d18:1/18:0)
  • Sulfatide (d18:1/18:0)
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:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PIGT

Primer Products

Flow Cytometry Products

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

Integrated Proteomics: protein expression 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 expressions with PIGT: view

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 35
  • 99.77 (n)
  • 100 (a)
PIGT 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PIGT 35
  • 90.23 (n)
  • 93.88 (a)
PIGT 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PIGT 35
  • 88.91 (n)
  • 93.07 (a)
PIGT 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pigt 35
  • 88.31 (n)
  • 95.14 (a)
Pigt 16
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 35
  • 50.72 (n)
  • 40 (a)
CG11190 36
  • 34 (a)
OneToOne
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 MAF
rs1028306 -- 45,417,240(-) TCATT(C/T)CTTAC intron-variant
rs1028307 -- 45,416,930(-) AGCAT(G/T)AATTG intron-variant
rs1051307 -- 45,426,149(+) gcagc(A/C)ctgGC utr-variant-3-prime, nc-transcript-variant
rs1051310 -- 45,426,176(+) GCTAC(A/C)CAGTG utr-variant-3-prime, nc-transcript-variant
rs1051313 -- 45,426,188(+) ATGTC(A/C)CTGTG utr-variant-3-prime, nc-transcript-variant

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

Variant ID Type Subtype PubMed ID
nsv912892 CNV Loss 21882294

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

(2) OMIM Diseases for PIGT Gene (610272)

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.
genes like me logo Genes that share disorders with PIGT: view

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
  2. A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT. (PMID: 23636107) Kvarnung M. … Nordgren A. (J. Med. Genet. 2013) 3 4
  3. A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT. (PMID: 23733340) Krawitz P.M. … Schrezenmeier H. (Blood 2013) 3 4
  4. Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PMID: 16303743) Otsuki T. … Isogai T. (DNA Res. 2005) 3 4
  5. The novel neurotrophin-regulated neuronal development-associated protein, NDAP, mediates apoptosis. (PMID: 16516892) Li H.L. … Yu A.C. (FEBS Lett. 2006) 3 23

Products for PIGT Gene

Sources for PIGT Gene

Back to Top

Content