PIGT
GPI-anchor transamidase component PIGT
Also known as: PIGT_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q969N2
- Gene
- PIGT
- Ensembl
- ENSG00000124155
- Chromosome
- 20
- Canonical length
- 578 aa
- Protein class
- Disease related genes, Human disease related genes, Metabolic proteins, Plasma proteins, Predicted intracellular proteins, Predicted membrane proteins
- Secretome location
- Intracellular and membrane
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
578 residues, UniProt reviewed canonical sequence.
>Q969N2|PIGT
1 MAAAMPLALL VLLLLGPGGW CLAEPPRDSL REELVITPLP SGDVAATFQF RTRWDSELQR
61 EGVSHYRLFP KALGQLISKY SLRELHLSFT QGFWRTRYWG PPFLQAPSGA ELWVWFQDTV
121 TDVDKSWKEL SNVLSGIFCA SLNFIDSTNT VTPTASFKPL GLANDTDHYF LRYAVLPREV
181 VCTENLTPWK KLLPCSSKAG LSVLLKADRL FHTSYHSQAV HIRPVCRNAR CTSISWELRQ
241 TLSVVFDAFI TGQGKKDWSL FRMFSRTLTE PCPLASESRV YVDITTYNQD NETLEVHPPP
301 TTTYQDVILG TRKTYAIYDL LDTAMINNSR NLNIQLKWKR PPENEAPPVP FLHAQRYVSG
361 YGLQKGELST LLYNTHPYRA FPVLLLDTVP WYLRLYVHTL TITSKGKENK PSYIHYQPAQ
421 DRLQPHLLEM LIQLPANSVT KVSIQFERAL LKWTEYTPDP NHGFYVSPSV LSALVPSMVA
481 AKPVDWEESP LFNSLFPVSD GSNYFVRLYT EPLLVNLPTP DFSMPYNVIC LTCTVVAVCY
541 GSFYNLLTRT FHIEEPRTGG LAKRLANLIR RARGVPPLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against PIGT can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 1
- Mean surface accessibility (rSASA)
- 0.28
- Highest tissue expression
- 112 nTPM
Expression across tissuesHPA
Tissue
- blood vessel: 112 nTPM
- heart muscle: 105 nTPM
- parathyroid gland: 98 nTPM
- epididymis: 85 nTPM
- rectum: 72 nTPM
- colon: 70 nTPM
Single-cell type
- decidual stromal cells: 203 nCPM
- goblet cells: 142 nCPM
- late spermatids: 139 nCPM
- differentiating spermatogonia: 124 nCPM
- epididymal principal cells: 122 nCPM
- colonocytes: 108 nCPM
Immune cell
- myeloid DC: 91 nTPM
- intermediate monocyte: 82 nTPM
- total PBMC: 81 nTPM
- non-classical monocyte: 78 nTPM
- classical monocyte: 77 nTPM
- plasmacytoid DC: 70 nTPM
Brain region
- white matter: 62 nTPM
- choroid plexus: 57 nTPM
- medulla oblongata: 49 nTPM
- cerebellum: 49 nTPM
- thalamus: 44 nTPM
- pons: 43 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about PIGT.
Disease | AllUniProt
Conditions PIGT is implicated in, by any mechanism.
- Multiple congenital anomalies-hypotonia-seizures syndrome 3 (MCAHS3) MIM:615398
- Paroxysmal nocturnal hemoglobinuria 2 (PNH2) MIM:615399
Disease | GeneticClinVar
28 pathogenic / likely-pathogenic of 396 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Multiple congenital anomalies-hypotonia-seizures syndrome 3
- PIGT-related disorder
- Inborn genetic diseases
- Neurodevelopmental delay
- Seizure
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.95
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.28
- DepMap mean gene effect
- 0.01
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 12% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- attachment of GPI anchor to protein
- GPI anchor biosynthetic process
- GPI anchored protein biosynthesis
- neuron apoptotic process
- neuron differentiation
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- GPI transamidase component PIG-T
- Gpi16 subunit, GPI transamidase component
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of PIGT in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads PIGT as an antibody target. Whether an autoantibody or antibody against PIGT could matter depends on whether native PIGT is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
PIGT is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label PIGT as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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