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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

PIGL Gene

protein-coding GIFtS: 56
GCID: GC17P016120

phosphatidylinositol glycan anchor biosynthesis, class L

(Previous names: phosphatidylinositol glycan, class L )

Explore 6 diseases affiliated with
PIGL via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Phosphatidylinositol Glycan Anchor Biosynthesis, Class L¹ ²		CHIME²
Phosphatidylinositol Glycan, Class L¹ ²		N-Acetylglucosaminyl-Phosphatidylinositol De-N-Acetylase²
Phosphatidylinositol-Glycan Biosynthesis Class L Protein² ³		N-Acetylglucosaminylphosphatidylinositol Deacetylase²
PIG-L² ³		EC 3.5.1.89³

External Ids:	HGNC: 8966¹	Entrez Gene: 9487²	Ensembl: ENSG00000108474⁷	OMIM: 605947⁵	UniProtKB: Q9Y2B2³

Export aliases for PIGL gene to outside databases

Previous GC identifers: GC17P016482 GC17P017232 GC17P016063 GC17P016321 GC17P016061 GC17P015989

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

Entrez Gene summary for PIGL:

This gene encodes an enzyme that catalyzes the second step of glycosylphosphatidylinositol (GPI) biosynthesis, which is

the de-N-acetylation of N-acetylglucosaminylphosphatidylinositol (GlcNAc-PI). Study of a similar rat enzyme suggests

that this protein localizes to the endoplasmic reticulum. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: PIGL_HUMAN, Q9Y2B2

Function: Involved in the second step of GPI biosynthesis. De-N-acetylation of

N-acetylglucosaminyl-phosphatidylinositol

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000017.10 NC_018928.1 NT_010718.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the PIGL gene promoter:
TBP Pax-5 AML1a AP-1 AP-2gamma FOXL1 Evi-1 Cart-1 Hlf ATF6
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: PIGL promoter sequence

Search SABiosciences Chromatin IP Primers for PIGL

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PIGL

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

Entrez Gene cytogenetic band: 17p12-p11.2 Ensembl cytogenetic band: 17p11.2 HGNC cytogenetic band: 17p12-p11.2

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

GeneLoc information about chromosome 17 GeneLoc Exon Structure

GeneLoc location for GC17P016120: view genomic region (about GC identifiers)

Start:	16,120,509 bp from pter	End:	16,252,115 bp from pter
Size:	131,607 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: PIGL_HUMAN, Q9Y2B2 (See protein sequence)

Recommended Name: N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase

Size: 252 amino acids; 28531 Da

Subcellular location: Endoplasmic reticulum membrane; Single-pass membrane protein (By similarity)

Secondary accessions: A8KA67

Explore the universe of human proteins at neXtProt for PIGL: NX_Q9Y2B2

PIGL Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_004269.1

ENSEMBL proteins:

ENSP00000462432 ENSP00000463540 ENSP00000463820 ENSP00000379185 ENSP00000225609

ENSP00000463754 ENSP00000464424 ENSP00000462131

Reactome Protein details: Q9Y2B2
Human Recombinant Protein Products for PIGL:

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	Uscn Proteins for PIGL

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005783	endoplasmic reticulum	NAS	--
GO:0005789	endoplasmic reticulum membrane	TAS	--
GO:0016021	integral to membrane	IEA	--

PIGL for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for PIGL

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

PIGL for domains About GeneDecksing

2 InterPro domains/families:

IPR003737 GlcNAc_PIno_de-acetylase

IPR024078 LmbE-like_dom

Graphical View of Domain Structure for InterPro Entry Q9Y2B2

ProtoNet protein and cluster: Q9Y2B2

1 Blocks protein family: IPB003737 LmbE-like protein

UniProtKB/Swiss-Prot: PIGL_HUMAN, Q9Y2B2

Similarity: Belongs to the PIGL family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: PIGL_HUMAN, Q9Y2B2

Function: Involved in the second step of GPI biosynthesis. De-N-acetylation of

N-acetylglucosaminyl-phosphatidylinositol

Catalytic activity: 6-(N-acetyl-alpha-D-glucosaminyl)-1-phosphatidyl-1D-myo-inositol + H(2)O =

6-(alpha-D-glucosaminyl)-1-phosphatidyl-1D-myo-inositol + acetate

Genatlas biochemistry entry for PIGL:

phosphatidylinositol glycan,class L,S cerevisiae homolog,N-acetylglucosaminylphosphatidylinositol-N-acetylase,essential

in glycosylphosphatidylinositol biosynthesis

Enzyme Number (IUBMB): EC 3.5.1.89¹

Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000225	N-acetylglucosaminylphosphatidylinositol deacetylase activity	NAS	10085243

PIGL for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for PIGL:

Increased HPV18 LCR reporter a

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for PIGL

miRNA Products:		OriGene 3'-UTR Clone: PIGL Browse MicroRNA Expression Plasmids
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		1 QIAGEN miScript miRNA Assays for microRNA that regulate PIGL:
		hsa-miR-513b
		SwitchGear 3'UTR luciferase reporter plasmid: PIGL 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PIGL

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Post-translational modification: synthesis of GPI-anchored proteins

	Post-translational modification: synthesis of GPI-anchored proteins	1.00			Synthesis of glycosylphosphatidylinositol (GPI)	0.64
	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis	0.79

Asparagine N-linked glycosylation

Post-translational protein modification

0.44

Metabolism of proteins

0.15

Metabolism

Metabolic pathways

0.38

Pathway sources
See GeneCards unified pathways
Show all pathways

4 Reactome Pathways for PIGL

	Metabolism of proteins
	Post-translational modification: synthesis of GPI-anchored proteins
	Post-translational protein modification
	Synthesis of glycosylphosphatidylinositol (GPI)

2 Kegg Pathways (Kegg details for PIGL):

	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis
	Metabolic pathways

UniProtKB/Swiss-Prot: PIGL_HUMAN, Q9Y2B2

Pathway: Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis

PIGL for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for PIGL

STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

5/8 Interacting proteins for PIGL (ENSP00000225609⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 8)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
DPM2	ENSP00000322181⁴	STRING: ENSP00000322181
GPLD1	ENSP00000230036⁴	STRING: ENSP00000230036
PIGA	ENSP00000369820⁴	STRING: ENSP00000369820
PIGC	ENSP00000258324⁴	STRING: ENSP00000258324
PIGH	ENSP00000216452⁴	STRING: ENSP00000216452

About this table

Gene Ontology (GO): 5 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006501	C-terminal protein lipidation	TAS	--
GO:0006506	GPI anchor biosynthetic process	NAS	10085243
GO:0016254	preassembly of GPI anchor in ER membrane	TAS	--
GO:0043687	post-translational protein modification	TAS	--
GO:0044267	cellular protein metabolic process	TAS	--

PIGL for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for PIGL

10/900 HMDB Compounds for PIGL (see all 900) 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	--

Search CenterWatch for drugs/clinical trials and news about PIGL

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 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,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for PIGL gene:

NM_004278.3

Unigene Cluster for PIGL:

Phosphatidylinositol glycan anchor biosynthesis, class L

Hs.499793 [show with all ESTs]

Unigene Representative Sequence: AK023469

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

ENST00000581006 ENST00000584797 ENST00000498772 ENST00000395844 ENST00000225609(uc002gpv.3)

ENST00000470116 ENST00000585034(uc010vwd.2) ENST00000477745 ENST00000489009

ENST00000463810 ENST00000580201 ENST00000488375

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PIGL
		1 QIAGEN miScript miRNA Assays for microRNA that regulate PIGL:
		hsa-miR-513b
		SwitchGear 3'UTR luciferase reporter plasmid: PIGL 3' UTR sequence

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PIGL

Additional cDNA sequence:

AB017165.1 AK023469.1 AK292932.1 AK296120.1 AK302523.1 BC068197.1

7 DOTS entries:

DT.107247 DT.92419515 DT.95258985 DT.102829196 DT.91924079 DT.95268488 DT.100745603

24/86 AceView cDNA sequences (see all 86):

AI089509 BQ013049 AU098701 AI637838 Z38346 BI753538 BF593304 BP380329

AA515381 AI091675 BF108861 BX280602 BI833840 BM836750 NM_004278 AB017165

BP372744 AI383617 BU634086 CF595829 AI318083 AI092264 N31968 CA453198

GeneLoc Exon Structure

5/8 Alternative Splicing Database (ASD) splice patterns (SP) for PIGL (see all 8) About this scheme

ExUns:	1	^	2a	·	2b	^	3	^	4a	·	4b	·	4c	^	5	^	6	^	7a	·	7b	·	7c	^	8	^	9
SP1:					-		-		-		-		-								-		-
SP2:					-		-		-
SP3:					-		-		-		-		-
SP4:					-		-		-		-		-						-		-		-
SP5:					-				-

ECgene alternative splicing isoforms for PIGL

(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 GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

PIGL expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TAGGCCAGGG

About this image
See PIGL Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for PIGL

SOURCE GeneReport for Unigene cluster: Hs.499793
SABiosciences Custom PCR Arrays for PIGL

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PIGL Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PIGL

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PIGL

(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 PIGL gene from 8/31 species (see all 31) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Pigl^{1 , 5}	phosphatidylinositol glycan anchor biosynthesis, class L less^{1, 5}	83.07(n)¹ 79.37(a)¹		11 (38.34 cM)⁵ 327942¹ NM_001039536.2¹ NP_001034625.1¹ 62458285⁵
chicken (Gallus gallus)	Aves	PIGL¹	phosphatidylinositol glycan anchor biosynthesis, class L less	66.11(n) 61.67(a)		417600 XM_415845.3 XP_415845.3
zebrafish (Danio rerio)	Actinopterygii	pigl¹	phosphatidylinositol glycan anchor biosynthesis, class L less	59.17(n) 55.98(a)		561471 XM_684869.3 XP_689961.2
fruit fly (Drosophila melanogaster)	Insecta	CG4433^{1 , 3}	CG4433¹	41(a)³ 51.05(n)¹ 46.38(a)¹		92C1³ 42388¹ NM_142600.2¹ NP_650857.2¹
worm (Caenorhabditis elegans)	Secernentea	Y52B11C.1⁶	--	33(a)	1 ↔ 1	I(11163803-11168728)
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	GPI12(YMR281W)⁴ GPI12¹	ER membrane protein involved in the second step of glycosylphosphatidylinositol (GPI) anchor assembly, the de-N-acetylation of the N-acetylglucosaminylphosphatidylinositol intermediate; functional homolog of human PIG-Lp less⁴ Gpi12p¹	43.23(n)¹ 38.12(a)¹		13(832339-833253)⁴ 855324^{1, 4} NP_014008.1^{1, 4}
thale cress (Arabidopsis thaliana)	eudicotyledons	AT3G58130¹	N-acetylglucosaminylphosphatidylinositol de-N-acetylase family protein less	44.6(n) 35.21(a)		824982 NM_001035805.1 NP_001030882.1
rice (Oryza sativa)	Liliopsida	Os04g0678800¹	hypothetical protein	45.04(n) 38.02(a)		4337416 NM_001060810.1 NP_001054275.1

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

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

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 17 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs116639184^1,2	F	--	16118544(+)	`CCCGAC/TCTGCC`	2	--	us2k¹ int¹		1		WA	118
rs76607790^1,2	F	--	16118651(+)	`CCGGGG/ATTGCA`	2	--	int¹ us2k¹		1		WA	118
rs192906143^1,2		--	16118682(+)	`GGGAGC/TTGGCT`	2	--	us2k¹ ut5¹		0	--	--	--	--
rs184786566^1,2		--	16118793(+)	`CACTCC/TAGCCG`	2	--	ut5¹ us2k¹		0	--	--	--	--
rs2272775^1,2	C,F,H	--	16118951(-)	`GCCCGG/ACCAGC`	2	--	us2k¹		8		EA MN NS	3252
rs187239616^1,2		--	16119013(+)	`CATGTC/GTCCTC`	2	--	us2k¹		0	--	--	--	--
rs178797^1,2	C,F,O,A,H	--	16119054(-)	`GGCCCC/TGTATC`	2	--	us2k¹		23		NS EA NA MN WA	3416
rs28372801^1,2	F	--	16119156(-)	`CGCCTG/AAGGAA`	2	--	us2k¹		2		MN EA	1252
rs150054981^1,2		--	16119206(+)	`CAAACC/TCCTCC`	2	--	us2k¹		0	--	--	--	--
rs191898969^1,2		--	16119222(+)	`GTGGTA/GGGGCG`	2	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for PIGL (16120509 - 16252115 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for PIGL: --
Human Gene Mutation Database (HGMD): PIGL

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(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.)
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PIGL for disorders About GeneDecksing

OMIM gene information: 605947 OMIM disorders: --

UniProtKB/Swiss-Prot: PIGL_HUMAN, Q9Y2B2

Defects in PIGL are the cause of coloboma, congenital heart disease, ichthyosiform dermatosis, mental

retardation and ear anomalies syndrome (CHIME) [MIM:280000]. An extremely rare autosomal recessive multisystem

disorder clinically characterized by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, mental

retardation, and ear anomalies including conductive hearing loss. Other clinical features include distinctive facial

features, abnormal growth, genitourinary abnormalities, seizures, and feeding difficulties

6 diseases for PIGL: About MalaCards

sleeping sickness babesiosis malaria coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome

coloboma congenital heart defect

1 disease from the University of Copenhagen DISEASES database for PIGL:

Babesiosis

Export disorders for PIGL 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)
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PubMed articles for PIGL gene, integrated from 9 sources (see all 12):
(articles sorted by number of sources associating them with PIGL)

Utopia: connect your pdf to the dynamic
world of online information

Mammalian PIG-L and its yeast homologue Gpi12p are N- acetylglucosaminylphosphatidylinositol de-N-acetylases essential in glycosylphosphatidylinositol biosynthesis. (PubMed id 10085243)^{1, 2, 3} Watanabe R.... Kinoshita T. (1999)
Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome. (PubMed id 22444671)^{1, 2} Ng B.G.... Freeze H.H. (2012)
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. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Subcellular localization and targeting of N-acetylglucosaminyl phosphatidylinositol de-N-acetylase, the second enzyme in the glycosylphosphatidylinositol biosynthetic pathway. (PubMed id 14742432)^{1, 9} Pottekat A. and Menon A.K. (2004)
hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)¹ Lamesch P.... Vidal M. (2007)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)¹ Strausberg R.L....Marra M.A. (2002)
Dissecting and manipulating the pathway for glycosylphos-phatidylinositol-anchor biosynthesis. (PubMed id 11102867)¹ Kinoshita T. and Inoue N. (2000)
Expression cloning of PIG-L, a candidate N-acetylglucosaminyl-phosphatidylinositol deacetylase. (PubMed id 9188481)¹ Nakamura N....Kinoshita T. (1997)
Substrate specificity of the N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase of glycosylphosphatidylinositol membrane anchor biosynthesis in African trypanosomes and human cells. (PubMed id 9359849)⁹ Sharma D.K....Ferguson M.A. (1997)

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

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

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

Entrez Gene: 9487	HGNC: 8966	AceView: PIGL	Ensembl:ENSG00000108474	euGenes: HUgn9487
ECgene: PIGL	Kegg: 9487	H-InvDB: PIGL

(According to HUGE)
About This Section

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

Name	Description
PharmGKB entry for PIGL	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for PIGL	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for PIGL 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 PIGL gene:
Search GeneIP for patents involving PIGL

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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phosphatidylinositol glycan anchor biosynthesis, class L

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PIGL Gene

phosphatidylinositol glycan anchor biosynthesis, class L

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