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PIGT Gene

protein-coding GIFtS: 57
GCID: GC20P044044

Phosphatidylinositol Glycan Anchor Biosynthesis, Class T

(Previous names: phosphatidylinositol glycan, class T)

See PIGT-related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Aliases
Phosphatidylinositol Glycan Anchor Biosynthesis, Class T¹ ²		PNH2² ⁵
GPI Transamidase Subunit¹ ²		Phosphatidylinositol Glycan, Class T¹
Phosphatidylinositol-Glycan Biosynthesis Class T Protein² ³		GPI Transamidase Component PIG-T²
MCAHS3² ⁵		Neurotrophin-Regulated Neuronal Development-Associated Protein²
NDAP² ⁵

External Ids:	HGNC: 14938¹	Entrez Gene: 51604²	Ensembl: ENSG00000124155⁷	OMIM: 610272⁵	UniProtKB: Q969N2³

Export aliases for PIGT gene to outside databases

Previous GC identifers: GC20P043773 GC20P044683 GC20P044730 GC20P043478 GC20P040786

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PIGT 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)

GeneCards Summary for PIGT Gene:

PIGT (phosphatidylinositol glycan anchor biosynthesis, class T) is a protein-coding gene. Diseases associated with PIGT include multiple congenital anomalies-hypotonia-seizures syndrome 3, and paroxysmal nocturnal hemoglobinuria 2. GO annotations related to this gene include GPI-anchor transamidase activity.

UniProtKB/Swiss-Prot: PIGT_HUMAN, Q969N2

Function: Component of the GPI transamidase complex. Essential for transfer of GPI to proteins, particularly for

formation of carbonyl intermediates

Gene Wiki entry for PIGT Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence at NCBI GenBank:

NC_000020.10 NT_011362.11 NC_018931.2

Regulatory elements:

Regulatory transcription factor binding sites in the PIGT gene promoter:
AML1a ATF-2 Lmo2 Nkx2-5 STAT5A GATA-1 CRE-BP1 MZF-1 HSF2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: PIGT promoter sequence

Search Chromatin IP Primers for PIGT

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PIGT

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20q12-q13.12 Ensembl cytogenetic band: 20q13.12 HGNC cytogenetic band: 20q12-q13.12

PIGT Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PIGT gene location

GeneLoc information about chromosome 20 GeneLoc Exon Structure

GeneLoc location for GC20P044044: view genomic region (about GC identifiers)

Start:	44,044,707 bp from pter	End:	44,054,884 bp from pter
Size:	10,178 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
About This Section

UniProtKB/Swiss-Prot: PIGT_HUMAN, Q969N2 (See protein sequence)

Recommended Name: GPI transamidase component PIG-T precursor

Size: 578 amino acids; 65700 Da

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

Sequence caution: Sequence=AAD27715.1; Type=Frameshift; Positions=5, 27; Sequence=AAQ88951.1; Type=Erroneous

initiation; Note=Translation N-terminally extended; Sequence=CAB57341.1; Type=Erroneous initiation;

Note=Translation N-terminally extended;

Secondary accessions: B2RND5 B7Z3N1 B7Z7I8 E1P622 G8JLF5 Q2NL69 Q7Z3N7 Q9BQY7 Q9BQY8 Q9UJG6

Q9Y2Z5

Alternative splicing: 6 isoforms: Q969N2-1 Q969N2-2 Q969N2-3 Q969N2-4 Q969N2-5 Q969N2-6 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PIGT: NX_Q969N2

Explore proteomics data for PIGT at MOPED

Post-translational modifications:

The disulfide bond between PIGK/GPI8 and PIGT is important for normal enzyme activity¹

Ubiquitination² at Lys337, Lys339, Lys365

Modification sites at PhosphoSitePlus

See PIGT Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (4 alternative transcripts):

NP_001171657.1 NP_001171658.1 NP_001171659.1 NP_057021.2

ENSEMBL proteins:

ENSP00000279036 ENSP00000279035 ENSP00000361774 ENSP00000407574 ENSP00000441577

ENSP00000408354 ENSP00000343783 ENSP00000440528 ENSP00000443963

Reactome Protein details: Q969N2

PIGT Human Recombinant Protein Products:

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	antibodies-online kits for PIGT (4 products)

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GenesLikeMe)
About This Section

HGNC Gene Families:

PIG: Phosphatidylinositol glycan anchor biosynthesis

1 InterPro protein domain:

IPR007245 PIG-T

Graphical View of Domain Structure for InterPro Entry Q969N2

ProtoNet protein and cluster: Q969N2

UniProtKB/Swiss-Prot: PIGT_HUMAN, Q969N2

Similarity: Belongs to the PIGT family

Find genes that share domains with PIGT About GenesLikeMe

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: PIGT_HUMAN, Q969N2

Function: Component of the GPI transamidase complex. Essential for transfer of GPI to proteins, particularly for

formation of carbonyl intermediates

Gene Ontology (GO): 2 molecular function terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003923	contributes to GPI-anchor transamidase activity	TAS	11483512
GO:0005515	protein binding	IPI	11483512

Find genes that share ontologies with PIGT About GenesLikeMe

Phenotypes:
1 GenomeRNAi human phenotype for PIGT:

Upregulation of Wnt/beta-caten

1 MGI phenotypic allele

for Pigt (no phenotypes)

Find genes that share phenotypes with PIGT About GenesLikeMe

Animal Models:
MGI mouse knock-out Pigt^tm1Lex for PIGT

genOway: Develop your customized and physiologically relevant rodent model for PIGT

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		hsa-miR-659
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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PIGT

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
About This Section

Subcellular locations from UniProtKB/Swiss-Prot

PIGT_HUMAN, Q969N2: Endoplasmic reticulum membrane; Single-pass type I membrane protein

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
endoplasmic reticulum	5
lysosome	3
extracellular	2
plasma membrane	2
peroxisome	1

About this image

Gene Ontology (GO): 5 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	--	--
GO:0005789	endoplasmic reticulum membrane	TAS	--
GO:0016023	cytoplasmic membrane-bounded vesicle	IEA	--
GO:0030176	integral component of endoplasmic reticulum membrane	NAS	12052837
GO:0042765	GPI-anchor transamidase complex	TAS	15713669

Find genes that share ontologies with PIGT About GenesLikeMe

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GenesLikeMe, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
About This Section

SuperPaths for PIGT About

See pathways by source

Powered
by

SuperPath

Contained pathways About

Post-translational modification- synthesis of GPI-anchored proteins

	Post-translational modification- synthesis of GPI-anchored proteins	0.76			Attachment of GPI anchor to uPAR	0.00
	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis	0.76

Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein

Post-translational protein modification

0.43

Metabolism of proteins

0.30

Metabolism

Metabolic pathways

0.38

Find genes that share SuperPaths with PIGT About GenesLikeMe

Pathways by source See SuperPaths
Show all pathways

1 Reactome Pathway for PIGT

Attachment of GPI anchor to uPAR

2 Kegg Pathways (Kegg details for PIGT):

	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis
	Metabolic pathways

UniProtKB/Swiss-Prot: PIGT_HUMAN, Q969N2

Pathway: Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis

Custom Pathway & Disease-focused RT² Profiler PCR Arrays for PIGT
Interactions:

GeneGlobe Interaction Network for PIGT

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for PIGT (Q969N2^{2, 3} ENSP00000279036⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 61)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
UPF3A	Q9H1J1²^,³, ENSP00000364448⁴	MINT-65103 I2D: score=4 STRING: ENSP00000364448
PIGK	Q92643³, ENSP00000359848⁴	I2D: score=6 STRING: ENSP00000359848
ARF1	P84077³, ENSP00000272102⁴	I2D: score=3 STRING: ENSP00000272102
GPAA1	O43292³, ENSP00000347206⁴	I2D: score=6 STRING: ENSP00000347206
UBC	P0CG48³, ENSP00000344818⁴	I2D: score=1 STRING: ENSP00000344818

About this table

Gene Ontology (GO): Selected biological process terms (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006501	C-terminal protein lipidation	TAS	--
GO:0016255	attachment of GPI anchor to protein	TAS	11483512
GO:0030182	neuron differentiation	IEA	--
GO:0043687	post-translational protein modification	TAS	--
GO:0044267	cellular protein metabolic process	TAS	--

Find genes that share ontologies with PIGT About GenesLikeMe

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, Sets of similar genes according to GenesLikeMe)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for PIGT

Selected HMDB Compounds for PIGT (see all 898) About this table

Compound	Synonyms	CAS #	PubMed Ids
3-Dehydrosphinganine	1-Hydroxy-2-amino-3-oxo-octadecane (see all 9)	16105-69-4	--
3-O-Sulfogalactosylceramide (d18:1/12:0)	Sulfatide (d18:1/12:0) (see all 13)	852100-88-0	--
3-O-Sulfogalactosylceramide (d18:1/14:0)	Sulfatide (d18:1/14:0) (see all 13)	--	--
3-O-Sulfogalactosylceramide (d18:1/16:0)	Sulfatide (d18:1/16:0) (see all 13)	862509-48-6	--
3-O-Sulfogalactosylceramide (d18:1/18:0)	Sulfatide (d18:1/18:0) (see all 13)	244215-65-4	--
3-O-Sulfogalactosylceramide (d18:1/18:1(9Z))	Sulfatide (d18:1/18:1(9Z)) (see all 13)	--	--
3-O-Sulfogalactosylceramide (d18:1/20:0)	Sulfatide (d18:1/20:0) (see all 13)	265096-81-9	--
3-O-Sulfogalactosylceramide (d18:1/22:0)	Sulfatide (d18:1/22:0) (see all 13)	265096-83-1	--
3-O-Sulfogalactosylceramide (d18:1/24:0)	Sulfatide (d18:1/24:0) (see all 16)	151122-71-3	--
3-O-Sulfogalactosylceramide (d18:1/24:1(15Z))	Sulfatide (d18:1/24:1(15Z)) (see all 13)	151057-28-2	--

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
About This Section

REFSEQ mRNAs for PIGT gene (6 alternative transcripts):

NM_001184728.2 NM_001184729.2 NM_001184730.2 NM_015937.5 XM_005260430.1 XM_005260432.1

Unigene Cluster for PIGT:

Phosphatidylinositol glycan anchor biosynthesis, class T

Hs.437388 [show with all ESTs]

Unigene Representative Sequence: NM_015937

9 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000279036(uc010ghd.2 uc010ghc.2 uc010ghe.2 uc010ghf.2 uc002xoh.2 uc010zwu.2 uc002xoi.2 uc010zwv.2 uc010zwx.2 uc010zxa.2)

ENST00000279035(uc010zwz.2 uc010zwy.2 uc010zxb.1) ENST00000372689(uc010ghb.2 uc010zwt.2 uc002xoj.2 uc002xol.1)

ENST00000455050 ENST00000543458(uc010zww.2) ENST00000432270 ENST00000341555

ENST00000535404 ENST00000545755

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Additional mRNA sequence:

AB057724.1 AF058295.1 AF132940.1 AK075469.1 AK225517.1 AK293294.1 AK293686.1 AK296063.1

AK296139.1 AK297830.1 AK299013.1 AK301815.1 AK302093.1 AK311100.1 AK311416.1 AK311492.1

AK311520.1 AK311522.1 AK316358.1 AL121742.1 AY358588.1 BC015022.1 BC110892.1 BC136827.1

BC136828.1 NR_047691.1 NR_047692.1 NR_047693.1 NR_047694.1 NR_047695.1

Selected DOTS entries (see all 29):

DT.453818 DT.95172646 DT.101985299 DT.100680828 DT.100845646 DT.86851993 DT.100682608 DT.120801350

DT.120801361 DT.91761261 DT.100845654 DT.437588 DT.120801311 DT.120801353 DT.95172643 DT.100845640

DT.120801316 DT.95172644 DT.100038793 DT.120801281 DT.91761257 DT.91761260 DT.100845643 DT.101985298

Selected AceView cDNA sequences (see all 600):

BQ691544 BE304395 BM837684 BC015022 CA418025 BU179558 AW510421 BM754691

CR604599 AI754894 CR605919 BP353526 BM127613 BI759752 BI909584 AI432547

BU856495 AI613194 CR602801 BE298820 BE781323 BQ706734 CA453971 CF131943

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for PIGT (see all 22) About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	·	1e	·	1f	^	2a	·	2b	·	2c	·	2d	^	3a	·	3b	·	3c	^	4a	·	4b	·	4c	·	4d	^	5a	·	5b	·	5c	^	6a	·	6b	·	6c	^	7a	·	7b	^	8a	·
SP1:																					-						-								-																-
SP2:																					-						-		-		-		-		-																-
SP3:																											-								-																-
SP4:													-		-		-		-		-		-		-		-								-																-
SP5:																					-		-		-		-								-

ExUns:	8b	·	8c	·	8d	^	9a	·	9b	^	10a	·	10b	^	11a	·	11b	^	12a	·	12b	^	13
SP1:
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for PIGT

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GenesLikeMe, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

PIGT expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: CCCTACAACG

About this image

PIGT expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database


Eye (Sensory Organs)
Retina

PIGT Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

PIGT Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.437388

Custom PCR Arrays for PIGT

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for PIGT gene from Selected species (see all 22) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Pigt^{1 , 5}	phosphatidylinositol glycan anchor biosynthesis, class more^{1, 5}	88.31(n)¹ 95.14(a)¹		2 (85.17 cM)⁵ 78928¹ NM_133779.2¹ NP_598540.2¹ 164497520⁵
chicken (Gallus gallus)	Aves	PIGT¹	phosphatidylinositol glycan anchor biosynthesis, class more	74.46(n) 77.72(a)		419179 XM_004947019.1 XP_004947076.1
lizard (Anolis carolinensis)	Reptilia	PIGT⁶	phosphatidylinositol glycan anchor biosynthesis, c...	77(a)	1 ↔ 1	GL343291.1(1585901-1598304)
African clawed frog (Xenopus laevis)	Amphibia	CA980888.1²	--	75.41(n)		CA980888.1
zebrafish (Danio rerio)	Actinopterygii	pigt¹	phosphatidylinositol glycan anchor biosynthesis, class more	67.82(n) 69.64(a)		556667 XM_679516.5 XP_684608.1
fruit fly (Drosophila melanogaster)	Insecta	CG11190¹	CG11190	50.72(n) 40(a)		31772 NM_132247.4 NP_572475.1
worm (Caenorhabditis elegans)	Secernentea	F17C11.7⁶	Protein F17C11.7, isoform b (F17C11.7) mRNA, compl...	26(a)	1 ↔ 1	V(10956821-10958821) WBGene00008918
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	GPI16(YHR188C)⁴ GPI16¹	Transmembrane protein subunit of the glycosylphosphatidylinositol more⁴ GPI16¹	46.78(n)¹ 39.37(a)¹		8(483837-482005)⁴ 856595^{1, 4} NP_012058.1^{1, 4}
thale cress (Arabidopsis thaliana)	eudicotyledons	AT3G07140¹	AT3G07140	46.69(n) 38.75(a)		819900 NM_111594.3 NP_566299.1
rice (Oryza sativa)	Liliopsida	Os11g0479232¹	Os11g0479232	45.07(n) 36.31(a)		9271607 NM_001189609.1 NP_001176538.1

ENSEMBL Gene Tree for PIGT (if available)
TreeFam Gene Tree for PIGT (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68,Sets of similar genes according to GenesLikeMe)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
About This Section

SNP ID	Valid	Clinical significance	Chr 20 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
VAR_070448⁴		Multiple congenital anomalies-hypotonia-seizures syndrome 3 (MCAHS3)⁴	--	see VAR_070448	2	T P	mis⁴		0	--	--	--	--
rs138929507^1,2		--	44042740(+)	`TCTACA/GTTTAC`	9	--	us2k¹		0	--	--	--	--
rs7263477^1,2	C,F	--	44042802(+)	`ATTCCA/TTATCC`	9	--	us2k¹		1		WA	118
rs192791957^1,2	C	--	44042806(+)	`CATATC/TCTACA`	9	--	us2k¹		0	--	--	--	--
rs200192342^1,2	C	--	44042867(+)	`TTATA-/AAATGA`	9	--	us2k¹		0	--	--	--	--
rs142939844^1,2		--	44042953(+)	`GACATC/TTAAGC`	9	--	us2k¹		0	--	--	--	--
rs147007266^1,2		--	44043008(+)	`GAATGC/TAGGCA`	9	--	us2k¹		0	--	--	--	--
rs182551943^1,2		--	44043130(+)	`TAGAAC/GTGTGG`	9	--	us2k¹		0	--	--	--	--
rs138739463^1,2		--	44043133(+)	`AAGTGG/TGGTCA`	9	--	us2k¹		0	--	--	--	--
rs2251212^1,2	C,F,H	--	44043228(+)	`ACTTTG/AGAACT`	9	--	us2k¹		20		NS EA NA WA CSA	2346

HapMap Linkage Disequilibrium report for PIGT (44044707 - 44054884 bp)

Structural Variations
Database of Genomic Variants (DGV) 1 variation for PIGT: About this table

Variant ID	Type	Subtype	PubMed ID
nsv912892	CNV	Loss	21882294

Human Gene Mutation Database (HGMD): PIGT

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing PIGT

DNA2.0 Custom Variant and Variant Library Synthesis for PIGT

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB, Sets of similar genes according to GenesLikeMe)
About This Section

OMIM gene information: 610272
OMIM disorders: 615399 615398
UniProtKB/Swiss-Prot: PIGT_HUMAN, Q969N2

Multiple congenital anomalies-hypotonia-seizures syndrome 3 (MCAHS3) [MIM:615398]: An autosomal recessive

syndrome characterized by distinct facial features, intellectual disability, hypotonia and seizures, in

combination with abnormal skeletal, endocrine, and ophthalmologic findings including impaired vision, as well as

abnormal motility of the eyes. Note=The disease is caused by mutations affecting the gene represented in this

entry

Paroxysmal nocturnal hemoglobinuria 2 (PNH2) [MIM:615399]: A disorder characterized by hemolytic anemia

with hemoglobinuria, thromboses in large vessels, and a deficiency in hematopoiesis. Red blood cell breakdown

with release of hemoglobin into the urine is manifested most prominently by dark-colored urine in the morning.

Note=Disease susceptibility is associated with variations affecting the gene represented in this entry

3 diseases for PIGT:
About MalaCards

multiple congenital anomalies-hypotonia-seizures syndrome 3 paroxysmal nocturnal hemoglobinuria 2 paroxysmal nocturnal hemoglobinuria

Find genes that share disorders with PIGT About GenesLikeMe

Export disorders for PIGT gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for PIGT gene, integrated from 10 sources (see all 33):
(articles sorted by number of sources associating them with PIGT)

Two subunits of glycosylphosphatidylinositol transamidase, GPI8 and PIG-T, form a functionally important intermolecular disulfide bridge. (PubMed id 12582175)^{1, 2, 9} Ohishi K.... Kinoshita T. (J. Biol. Chem. 2003)
A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT. (PubMed id 23636107)^{1, 2} Kvarnung M....Nordgren A. (J. Med. Genet. 2013)
A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT. (PubMed id 23733340)^{1, 2} Krawitz P.M....Schrezenmeier H. (Blood 2013)
Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PubMed id 16303743)^{1, 2} Otsuki T....Isogai T. (DNA Res. 2005)
Endoplasmic reticulum localization of Gaa1 and PIG-T, subunits of the glycosylphosphatidylinositol transamidase complex. (PubMed id 15713669)^{1, 3} Vainauskas S. and Menon A.K. (J. Biol. Chem. 2005)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S.... Malek J. (Genome Res. 2004)
The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)^{1, 2} Clark H.F.... Gray A.M. (Genome Res. 2003)
The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)^{1, 2} Deloukas P....Rogers J. (Nature 2001)
PIG-S and PIG-T, essential for GPI anchor attachment to proteins, form a complex with GAA1 and GPI8. (PubMed id 11483512)^{1, 2} Ohishi K.... Kinoshita T. (EMBO J. 2001)
Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PubMed id 10810093)^{1, 2} Lai C.-H.... Lin W.-C. (Genome Res. 2000)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 51604	HGNC: 14938	AceView: PIGT	Ensembl:ENSG00000124155	euGenes: HUgn51604
ECgene: PIGT	Kegg: 51604	H-InvDB: PIGT

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for PIGT	Pharmacogenomics, SNPs, Pathways

Intellectual Property for PIGT gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for PIGT gene:
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GeneCards and IP:
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PIGT Gene

Phosphatidylinositol Glycan Anchor Biosynthesis, Class T

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PIGT Gene

Phosphatidylinositol Glycan Anchor Biosynthesis, Class T

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