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PIGT phosphatidylinositol glycan anchor biosynthesis class T [ Homo sapiens (human) ]

Gene ID: 51604, updated on 1-Jun-2020

Summary

Official Symbol
PIGTprovided by HGNC
Official Full Name
phosphatidylinositol glycan anchor biosynthesis class Tprovided by HGNC
Primary source
HGNC:HGNC:14938
See related
Ensembl:ENSG00000124155 MIM:610272
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NDAP; PNH2; CGI-06; MCAHS3
Summary
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]
Expression
Ubiquitous expression in heart (RPKM 45.9), colon (RPKM 41.3) and 25 other tissues See more
Orthologs

Genomic context

See PIGT in Genome Data Viewer
Location:
20q13.12
Exon count:
12
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (45416141..45426241)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (44044707..44054885)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene SYS1-DBNDD2 readthrough (NMD candidate) Neighboring gene uncharacterized LOC107985404 Neighboring gene NADH:ubiquinone oxidoreductase subunit B4 pseudogene 10 Neighboring gene uncharacterized LOC107985405 Neighboring gene dysbindin domain containing 2 Neighboring gene uncharacterized LOC105372631 Neighboring gene microRNA 6812 Neighboring gene WAP four-disulfide core domain 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC8909, FLJ41596

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to GPI-anchor transamidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
contributes_to GPI-anchor transamidase activity TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
attachment of GPI anchor to protein IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
attachment of GPI anchor to protein TAS
Traceable Author Statement
more info
PubMed 
neuron apoptotic process IEA
Inferred from Electronic Annotation
more info
 
neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
GPI-anchor transamidase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GPI-anchor transamidase complex IDA
Inferred from Direct Assay
more info
PubMed 
GPI-anchor transamidase complex TAS
Traceable Author Statement
more info
PubMed 
cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of endoplasmic reticulum membrane NAS
Non-traceable Author Statement
more info
PubMed 
membrane HDA PubMed 

General protein information

Preferred Names
GPI transamidase component PIG-T
Names
GPI transamidase subunit
neurotrophin-regulated neuronal development-associated protein
phosphatidylinositol-glycan biosynthesis class T protein

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_047154.1 RefSeqGene

    Range
    5075..15175
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001184728.3NP_001171657.1  GPI transamidase component PIG-T isoform 2 precursor

    See identical proteins and their annotated locations for NP_001171657.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an exon in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AK296139, AL121742, DC399420
    Consensus CDS
    CCDS54464.1
    UniProtKB/Swiss-Prot
    Q969N2
    Related
    ENSP00000441577.1, ENST00000543458.7
    Conserved Domains (1) summary
    pfam04113
    Location:32509
    Gpi16; Gpi16 subunit, GPI transamidase component
  2. NM_001184729.3NP_001171658.1  GPI transamidase component PIG-T isoform 3 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an exon in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
    Source sequence(s)
    AK225517, AL121742
    Consensus CDS
    CCDS54465.1
    UniProtKB/Swiss-Prot
    Q969N2
    Related
    ENSP00000361774.4, ENST00000372689.9
    Conserved Domains (1) summary
    pfam04113
    Location:32498
    Gpi16; Gpi16 subunit, GPI transamidase component
  3. NM_001184730.3NP_001171659.1  GPI transamidase component PIG-T isoform 4 precursor

    See identical proteins and their annotated locations for NP_001171659.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks two consecutive exons in the 5' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (4) is shorter than isoform 1.
    Source sequence(s)
    AK302093, AL121742
    Consensus CDS
    CCDS54466.1
    UniProtKB/Swiss-Prot
    Q969N2
    Related
    ENSP00000279035.8, ENST00000279035.14
    Conserved Domains (1) summary
    pfam04113
    Location:68463
    Gpi16; Gpi16 subunit, GPI transamidase component
  4. NM_015937.6NP_057021.2  GPI transamidase component PIG-T isoform 1 precursor

    See identical proteins and their annotated locations for NP_057021.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AL121742, BC136827
    Consensus CDS
    CCDS13353.1
    UniProtKB/Swiss-Prot
    Q969N2
    Related
    ENSP00000279036.6, ENST00000279036.12
    Conserved Domains (1) summary
    pfam04113
    Location:32565
    Gpi16; Gpi16 subunit, GPI transamidase component

RNA

  1. NR_047691.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses an alternate splice site in the 5' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK316358, AL121742, DC399420
    Related
    ENST00000638445.1
  2. NR_047692.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK296063, AL121742
    Related
    ENST00000455050.2
  3. NR_047693.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK293294, AL121742, DC384944
    Related
    ENST00000639783.1
  4. NR_047694.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK293686, AL121742, DC399420
    Related
    ENST00000638671.1
  5. NR_047695.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) lacks three consecutive internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK299013, AL121742
    Related
    ENST00000640175.1

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    45416141..45426241
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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