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

    Gene ID: 51604, updated on 14-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:14938
    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; PIG-T; 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
    mouse all
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    Genomic context

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    See PIGT in Genome Data Viewer
    Location:
    20q13.12
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (45416141..45426241)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (47152004..47162091)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (44044781..44054881)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene SYS1-DBNDD2 readthrough (NMD candidate) Neighboring gene NADH:ubiquinone oxidoreductase subunit B4 pseudogene 10 Neighboring gene uncharacterized LOC107985404 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:44035517-44036066 Neighboring gene uncharacterized LOC107985405 Neighboring gene dysbindin domain containing 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17951 Neighboring gene uncharacterized LOC105372631 Neighboring gene microRNA 6812 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12958 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12959 Neighboring gene WAP four-disulfide core domain 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Bilateral anterior segment dysgenesis and peripheral avascular retina with tractional retinal detachment in an infant with multiple congenital anomalies-hypotony-seizures syndrome 3.
      Title: Bilateral anterior segment dysgenesis and peripheral avascular retina with tractional retinal detachment in an infant with multiple congenital anomalies-hypotony-seizures syndrome 3.
    2. Evidence of the milder phenotypic spectrum of c.1582G>A PIGT variant: Delineation based on seven novel Polish patients.
      Title: Evidence of the milder phenotypic spectrum of c.1582G>A PIGT variant: Delineation based on seven novel Polish patients.
    3. Whole-exome sequencing revealed compound heterozygous mutations (c.250G > T, p.Glu84X and c.1096G > T, p.Gly366Trp) in PIGT (NM_015937.5), which were confirmed using Sanger sequencing. Thus inherited GPI anchor deficiency associated with these PIGT mutations was diagnosed
      Title: Epileptic apnea in a patient with inherited glycosylphosphatidylinositol anchor deficiency and PIGT mutations.
    4. PIGT-knockout HEK293 cells showed that p.(E237Q) results in a small reduction in the amount of CD59 anchored to the cell membrane.
      Title: Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders.
    5. mutations in PIGT as the cause of a novel autosomal recessive intellectual disability syndrome
      Title: A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT.
    6. Germline mutation and a somatic mutation in PIGT is associated with paroxysmal nocturnal hemoglobinuria.
      Title: A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT.
    7. GPI8 and PIG-T form a functionally important intermolecular disulfide bridge
      Title: Two subunits of glycosylphosphatidylinositol transamidase, GPI8 and PIG-T, form a functionally important intermolecular disulfide bridge.
    8. ER-localized because of information in its transmembrane span
      Title: Endoplasmic reticulum localization of Gaa1 and PIG-T, subunits of the glycosylphosphatidylinositol transamidase complex.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Multiple congenital anomalies-hypotonia-seizures syndrome 3
    MedGen: C3809356 OMIM: 615398 GeneReviews: Not available
    		not available
    Paroxysmal nocturnal hemoglobinuria 2
    MedGen: C3809369 OMIM: 615399 GeneReviews: Not available
    		not available

    Variation

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    See Variation Viewer (GRCh37.p13)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC8909, FLJ41596

    Gene Ontology Provided by GOA

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

    General protein information

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    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)

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    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_001184728.3 → NP_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/TrEMBL
      A0A1W2PNP0
      Related
      ENSP00000441577.1, ENST00000543458.7
      Conserved Domains (1) summary
      pfam04113
      Location:32 → 509
      Gpi16; Gpi16 subunit, GPI transamidase component

    2. NM_001184729.3 → NP_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/TrEMBL
      A0A1W2PPR6
      Related
      ENSP00000361774.4, ENST00000372689.9
      Conserved Domains (1) summary
      pfam04113
      Location:32 → 498
      Gpi16; Gpi16 subunit, GPI transamidase component

    3. NM_001184730.3 → NP_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/TrEMBL
      A0A1W2PP53
      Related
      ENSP00000279035.8, ENST00000279035.14
      Conserved Domains (1) summary
      pfam04113
      Location:68 → 463
      Gpi16; Gpi16 subunit, GPI transamidase component

    4. NM_015937.6 → NP_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
      B2RND5, B7Z3N1, B7Z7I8, E1P622, G8JLF5, Q2NL69, Q7Z3N7, Q969N2, Q9BQY7, Q9BQY8, Q9UJG6, Q9Y2Z5
      UniProtKB/TrEMBL
      A0A1W2PPR6
      Related
      ENSP00000279036.6, ENST00000279036.12
      Conserved Domains (1) summary
      pfam04113
      Location:32 → 565
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      47152004..47162091
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q969N2.1 GenPept UniProtKB/Swiss-Prot:Q969N2

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