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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, Class T 2
  • GPI Transamidase Component PIG-T 3
  • 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 Glycosylphosphatidylinositol (GPI)-anchor biosynthesis and Metabolism of proteins. 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

Enhancers for PIGT 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
GH20F045372 1.6 FANTOM5 Ensembl ENCODE 12 -42.7 -42661 2.4 HDGF ATF1 PKNOX1 CREB3L1 ARID4B SIN3A ZNF48 ZNF2 ZNF121 ZNF143 DBNDD2 TP53TG5 PIGT SYS1 KCNS1 WFDC11 SYS1-DBNDD2 NDUFB4P10
GH20F045334 1.8 FANTOM5 Ensembl ENCODE 10.6 -74.0 -73987 14.4 MLX ZFP64 DMAP1 YY1 ZNF143 SP3 NFYC SSRP1 GLIS1 RCOR2 NCOA5 PCIF1 ZNF335 CD40 ZSWIM1 ENSG00000271984 ENSG00000233352 LOC105372630 ENSG00000237464 RPL5P2
GH20F045318 1.2 Ensembl ENCODE 10.9 -95.6 -95622 3.3 HDGF FEZF1 ZNF766 GATA2 ZNF143 REST TBX21 MEF2D SMARCA4 MYNN PIGT ENSG00000237464 RNU6ATAC38P DNTTIP1 WFDC3 WFDC12 TRV-CAC14-1 PIR62059
GH20F045322 1.2 Ensembl ENCODE 10.9 -92.5 -92475 1.6 ATF1 PKNOX1 CREB3L1 ARID4B SIN3A ZNF48 YY1 ZNF143 SP5 NFYC SYS1 SYS1-DBNDD2 PIGT ENSG00000237464 RNU6ATAC38P DNTTIP1 WFDC3 PABPC1L TRV-CAC14-1 ENSG00000275894
GH20F045353 1.1 Ensembl ENCODE 11.3 -61.1 -61104 2.1 KLF17 RAD21 SCRT2 FOS ZNF654 CEBPB REST ZNF488 ZNF610 ZNF585B DBNDD2 TP53TG5 NCOA5 PIGT SYS1 MATN4 RBPJL SDC4
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PIGT on UCSC Golden Path with GeneCards custom track

Promoters for PIGT Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001837759 133 1601 CREB3L1 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF143 ZNF207

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

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

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.

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
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

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PIGT gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
lysosome 3
extracellular 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for PIGT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA,IDA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PIGT: view

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:0006506 GPI anchor biosynthetic process IEA --
GO:0016255 attachment of GPI anchor to protein IEA,TAS 11483512
GO:0030182 neuron differentiation IEA --
GO:0051402 neuron apoptotic process IEA --
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 second messenger and ligand for S1PR1, 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:

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 from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for PIGT Gene



Protein tissue co-expression partners for PIGT Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PIGT Gene:

PIGT

SOURCE GeneReport for Unigene cluster for PIGT Gene:

Hs.437388
genes like me logo Genes that share expression patterns with PIGT: view

Primer 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 34 35
  • 99.77 (n)
cow
(Bos Taurus)
Mammalia PIGT 34 35
  • 90.23 (n)
rat
(Rattus norvegicus)
Mammalia Pigt 34
  • 89.21 (n)
dog
(Canis familiaris)
Mammalia PIGT 34 35
  • 88.91 (n)
mouse
(Mus musculus)
Mammalia Pigt 34 16 35
  • 88.31 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PIGT 35
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PIGT 35
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves PIGT 34 35
  • 74.46 (n)
lizard
(Anolis carolinensis)
Reptilia PIGT 35
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pigt 34
  • 69 (n)
Str.4301 34
zebrafish
(Danio rerio)
Actinopterygii pigt 34 35
  • 67.82 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008540 34
  • 53.39 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG11190 34 35
  • 50.72 (n)
worm
(Caenorhabditis elegans)
Secernentea F17C11.7 35
  • 26 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR333C 34
  • 48.3 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GPI16 34 35 37
  • 46.78 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A09515g 34
  • 45.26 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G07140 34
  • 46.69 (n)
rice
(Oryza sativa)
Liliopsida Os11g0479232 34
  • 45.07 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU05644 34
  • 50.32 (n)
Species where no ortholog for PIGT was found in the sources mined by GeneCards:
  • 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
rs587777027 Multiple congenital anomalies-hypotonia-seizures syndrome 3 (MCAHS3) [MIM:615398], Pathogenic 45,419,348(+) TCTGC(A/C)CCGAA intron-variant, nc-transcript-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs527236031 Pathogenic 45,424,323(+) TTGAG(C/T)GGGCG nc-transcript-variant, upstream-variant-2KB, reference, missense
rs527236032 Pathogenic 45,420,578(+) AGGAC(-/T)GTCAT nc-transcript-variant, reference, frameshift-variant
rs756632799 Pathogenic 45,416,579(+) TACGG(G/T)AGCTG intron-variant, nc-transcript-variant, reference, stop-gained, utr-variant-5-prime
rs139366969 Uncertain significance 45,421,416(+) CCAGC(A/G)GTACG intron-variant, nc-transcript-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
nsv1056102 CNV loss 25217958
dgv4319n100 CNV gain 25217958

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

Human Gene Mutation Database (HGMD)
PIGT
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PIGT

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

Disorders for PIGT Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
multiple congenital anomalies-hypotonia-seizures syndrome 3
  • glycosylphosphatidylinositol biosynthesis defect 7
paroxysmal nocturnal hemoglobinuria 2
  • pnh2
paroxysmal nocturnal hemoglobinuria
  • marchiafava-micheli disease
multiple congenital anomalies-hypotonia-seizures syndrome
  • multiple congenital anomalies-hypotonia-seizures syndrome 1
hemoglobinuria
- elite association - COSMIC cancer census association via MalaCards
Search PIGT in MalaCards View complete list of genes associated with diseases

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 22 64
  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 64
  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 64
  4. The novel neurotrophin-regulated neuronal development-associated protein, NDAP, mediates apoptosis. (PMID: 16516892) Li H.L. … Yu A.C. (FEBS Lett. 2006) 3 22 64
  5. 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 64

Products for PIGT Gene

Sources for PIGT Gene

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