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

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; 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

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_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
ER-localized because of information in its transmembrane span
Title: Endoplasmic reticulum localization of Gaa1 and PIG-T, subunits of the glycosylphosphatidylinositol transamidase complex.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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	Compare labs
Paroxysmal nocturnal hemoglobinuria 2 MedGen: C3809369 OMIM: 615399 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

WI-12135 (e-PCR)
- UniSTS:81429

RH80364 (e-PCR)
- UniSTS:89391

D10S16 (e-PCR)
- UniSTS:155756

STS-AA032233 (e-PCR)
- UniSTS:33902

D5S1597E (e-PCR)
- UniSTS:151019

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 more info	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

NG_047154.1 RefSeqGene

Range

5075..15175

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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

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
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
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
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
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