Human Gene PIGT (ENST00000279036.12) from GENCODE V44
  Description: Homo sapiens phosphatidylinositol glycan anchor biosynthesis class T (PIGT), transcript variant 1, mRNA. (from RefSeq NM_015937)
RefSeq Summary (NM_015937): 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].
Gencode Transcript: ENST00000279036.12
Gencode Gene: ENSG00000124155.19
Transcript (Including UTRs)
   Position: hg38 chr20:45,416,141-45,426,241 Size: 10,101 Total Exon Count: 12 Strand: +
Coding Region
   Position: hg38 chr20:45,416,157-45,425,826 Size: 9,670 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr20:45,416,141-45,426,241)mRNA (may differ from genome)Protein (578 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGImyGene2
neXtProtOMIMPubMedReactomeUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PIGT_HUMAN
DESCRIPTION: RecName: Full=GPI transamidase component PIG-T; AltName: Full=Phosphatidylinositol-glycan biosynthesis class T protein; Flags: Precursor;
FUNCTION: Component of the GPI transamidase complex. Essential for transfer of GPI to proteins, particularly for formation of carbonyl intermediates.
PATHWAY: Glycolipid biosynthesis; glycosylphosphatidylinositol- anchor biosynthesis.
SUBUNIT: 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.
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Single-pass type I membrane protein.
PTM: The disulfide bond between PIGK/GPI8 and PIGT is important for normal enzyme activity.
SIMILARITY: Belongs to the PIGT family.
SEQUENCE CAUTION: Sequence=AAD27715.1; Type=Frameshift; Positions=5, 27; Sequence=AAQ88951.1; Type=Erroneous initiation; Sequence=CAB57341.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

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To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: PIGT
Diseases sorted by gene-association score: multiple congenital anomalies-hypotonia-seizures syndrome 3* (1688), paroxysmal nocturnal hemoglobinuria 2* (594), paroxysmal nocturnal hemoglobinuria (17), multiple congenital anomalies-hypotonia-seizures syndrome (17), hemoglobinuria (17), retinal degeneration, late-onset, autosomal dominant (5), intellectual disability (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 84.12 RPKM in Artery - Aorta
Total median expression: 2124.10 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -1.5016-0.094 Picture PostScript Text
3' UTR -172.30415-0.415 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007245 - Gpi16

Pfam Domains:
PF04113 - Gpi16 subunit, GPI transamidase component

ModBase Predicted Comparative 3D Structure on Q969N2
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserGenome BrowserNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsemblEnsembl  
Protein SequenceProtein SequenceProtein SequenceProtein Sequence  
AlignmentAlignmentAlignmentAlignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003923 GPI-anchor transamidase activity
GO:0005515 protein binding

Biological Process:
GO:0006506 GPI anchor biosynthetic process
GO:0016255 attachment of GPI anchor to protein
GO:0030182 neuron differentiation
GO:0051402 neuron apoptotic process

Cellular Component:
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030176 integral component of endoplasmic reticulum membrane
GO:0031410 cytoplasmic vesicle
GO:0042765 GPI-anchor transamidase complex


-  Descriptions from all associated GenBank mRNAs
  AK302093 - Homo sapiens cDNA FLJ51140 complete cds, highly similar to GPI transamidase component PIG-T precursor.
LF206013 - JP 2014500723-A/13516: Polycomb-Associated Non-Coding RNAs.
MA441590 - JP 2018138019-A/13516: Polycomb-Associated Non-Coding RNAs.
BC136827 - Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class T, mRNA (cDNA clone MGC:168441 IMAGE:9020818), complete cds.
BC136828 - Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class T, mRNA (cDNA clone MGC:168442 IMAGE:9020819), complete cds.
AK225517 - Homo sapiens mRNA for phosphatidylinositol glycan, class T variant, clone: KAT05133.
BC015022 - Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class T, mRNA (cDNA clone MGC:8909 IMAGE:3921680), complete cds.
AK299013 - Homo sapiens cDNA FLJ51050 complete cds, highly similar to GPI transamidase component PIG-T precursor.
AK296063 - Homo sapiens cDNA FLJ57311 complete cds, highly similar to GPI transamidase component PIG-T precursor.
AK123590 - Homo sapiens cDNA FLJ41596 fis, clone CTONG2023512, highly similar to Homo sapiens PIG-T mRNA for phosphatidyl inositol glycan class T.
AK301815 - Homo sapiens cDNA FLJ51130 complete cds, highly similar to GPI transamidase component PIG-T precursor.
AK311492 - Homo sapiens cDNA, FLJ18534.
AK311520 - Homo sapiens cDNA, FLJ18562.
AK316358 - Homo sapiens cDNA, FLJ79257 complete cds, highly similar to GPI transamidase component PIG-T precursor.
AK293294 - Homo sapiens cDNA FLJ53822 complete cds, highly similar to GPI transamidase component PIG-T precursor.
AK075469 - Homo sapiens cDNA PSEC0163 fis, clone PLACE1010330, highly similar to Phosphatidylinositol glycan, class T.
BX537612 - Homo sapiens mRNA; cDNA DKFZp686O1650 (from clone DKFZp686O1650).
AK311416 - Homo sapiens cDNA, FLJ18458.
AK311100 - Homo sapiens cDNA, FLJ18142.
AK293686 - Homo sapiens cDNA FLJ61680 complete cds, highly similar to GPI transamidase component PIG-T precursor.
AK296139 - Homo sapiens cDNA FLJ50975 complete cds, highly similar to GPI transamidase component PIG-T precursor.
AK311522 - Homo sapiens cDNA, FLJ18564.
KJ898932 - Synthetic construct Homo sapiens clone ccsbBroadEn_08326 PIGT gene, encodes complete protein.
AB057724 - Homo sapiens PIG-T mRNA for phosphatidyl inositol glycan class T, complete cds.
BC110892 - Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class T, mRNA (cDNA clone IMAGE:5755895), partial cds.
AY358588 - Homo sapiens clone DNA59828 PIGT (UNQ716) mRNA, complete cds.
AF132940 - Homo sapiens CGI-06 protein mRNA, complete cds.
AL121742 - Novel gene on chromosome 20.
LF350548 - JP 2014500723-A/158051: Polycomb-Associated Non-Coding RNAs.
MA586125 - JP 2018138019-A/158051: Polycomb-Associated Non-Coding RNAs.
AK297830 - Homo sapiens cDNA FLJ58370 complete cds, highly similar to GPI transamidase component PIG-T precursor.
LF350550 - JP 2014500723-A/158053: Polycomb-Associated Non-Coding RNAs.
MA586127 - JP 2018138019-A/158053: Polycomb-Associated Non-Coding RNAs.
LF350551 - JP 2014500723-A/158054: Polycomb-Associated Non-Coding RNAs.
MA586128 - JP 2018138019-A/158054: Polycomb-Associated Non-Coding RNAs.
LF350552 - JP 2014500723-A/158055: Polycomb-Associated Non-Coding RNAs.
MA586129 - JP 2018138019-A/158055: Polycomb-Associated Non-Coding RNAs.
LF350554 - JP 2014500723-A/158057: Polycomb-Associated Non-Coding RNAs.
MA586131 - JP 2018138019-A/158057: Polycomb-Associated Non-Coding RNAs.
LF350555 - JP 2014500723-A/158058: Polycomb-Associated Non-Coding RNAs.
MA586132 - JP 2018138019-A/158058: Polycomb-Associated Non-Coding RNAs.
LF350556 - JP 2014500723-A/158059: Polycomb-Associated Non-Coding RNAs.
MA586133 - JP 2018138019-A/158059: Polycomb-Associated Non-Coding RNAs.
JD403742 - Sequence 384766 from Patent EP1572962.
JD077133 - Sequence 58157 from Patent EP1572962.
JD335108 - Sequence 316132 from Patent EP1572962.
JD456496 - Sequence 437520 from Patent EP1572962.
JD156890 - Sequence 137914 from Patent EP1572962.
JD311572 - Sequence 292596 from Patent EP1572962.
JD320005 - Sequence 301029 from Patent EP1572962.
JD061589 - Sequence 42613 from Patent EP1572962.
JD369933 - Sequence 350957 from Patent EP1572962.
JD038277 - Sequence 19301 from Patent EP1572962.
JD078737 - Sequence 59761 from Patent EP1572962.
JD233085 - Sequence 214109 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00563 - Glycosylphosphatidylinositol(GPI)-anchor biosynthesis
hsa01100 - Metabolic pathways

Reactome (by CSHL, EBI, and GO)

Protein Q969N2 (Reactome details) participates in the following event(s):

R-HSA-162836 uPAR precursor + acyl-GPI -> uPAR-acyl-GPI + uPAR propeptide
R-HSA-162791 Attachment of GPI anchor to uPAR
R-HSA-163125 Post-translational modification: synthesis of GPI-anchored proteins
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: B2RND5, B7Z3N1, B7Z7I8, CGI-06, E1P622, ENST00000279036.1, ENST00000279036.10, ENST00000279036.11, ENST00000279036.2, ENST00000279036.3, ENST00000279036.4, ENST00000279036.5, ENST00000279036.6, ENST00000279036.7, ENST00000279036.8, ENST00000279036.9, NM_015937, PIGT_HUMAN, PSEC0163, Q2NL69, Q7Z3N7, Q969N2, Q9BQY7, Q9BQY8, Q9UJG6, Q9Y2Z5, uc002xoh.1, uc002xoh.2, uc002xoh.3, uc002xoh.4, uc002xoh.5, uc002xoh.6, UNQ716/PRO1379
UCSC ID: ENST00000279036.12
RefSeq Accession: NM_015937
Protein: Q969N2 (aka PIGT_HUMAN)
CCDS: CCDS13353.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.