PIGL (phosphatidylinositol glycan anchor biosynthesis class L)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9487
Gene name Gene Name - the full gene name approved by the HGNC.
Phosphatidylinositol glycan anchor biosynthesis class L
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PIGL
Synonyms (NCBI Gene) Gene synonyms aliases
CHIME
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CHIME
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17p11.2
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(7)
SNP ID Visualize variation Clinical significance Consequence
rs139004722 C>A,G,T Pathogenic, uncertain-significance 3 prime UTR variant, stop gained, coding sequence variant, downstream transcript variant, genic downstream transcript variant, missense variant
rs145303331 T>C Pathogenic, pathogenic-likely-pathogenic, uncertain-significance Missense variant, coding sequence variant, intron variant, genic downstream transcript variant
rs758633805 C>- Pathogenic Coding sequence variant, frameshift variant
rs768198327 G>A,T Likely-pathogenic Genic downstream transcript variant, splice donor variant, downstream transcript variant
rs770084126 G>A Pathogenic Splice acceptor variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(9)
miRTarBase ID miRNA Experiments Reference
MIRT2295753 hsa-miR-2467-3p CLIP-seq
MIRT2295754 hsa-miR-3678-3p CLIP-seq
MIRT2295755 hsa-miR-450b-5p CLIP-seq
MIRT2295756 hsa-miR-4738-5p CLIP-seq
MIRT2295757 hsa-miR-4781-5p CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(10)
GO ID Ontology Definition Evidence Reference
GO:0000225 Function N-acetylglucosaminylphosphatidylinositol deacetylase activity IBA 21873635
GO:0000225 Function N-acetylglucosaminylphosphatidylinositol deacetylase activity NAS 10085243
GO:0000225 Function N-acetylglucosaminylphosphatidylinositol deacetylase activity TAS
GO:0005783 Component Endoplasmic reticulum IBA 21873635
GO:0005789 Component Endoplasmic reticulum membrane TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
605947 8966 ENSG00000108474
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9Y2B2
Protein name N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase (EC 3.5.1.89) (Phosphatidylinositol-glycan biosynthesis class L protein) (PIG-L)
Protein function Catalyzes the second step of glycosylphosphatidylinositol (GPI) biosynthesis, which is the de-N-acetylation of N-acetylglucosaminyl-phosphatidylinositol.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02585 PIG-L 44 → 168 GlcNAc-PI de-N-acetylase Family
Sequence 
MEAMWLLCVALAVLAWGFLWVWDSSERMKSREQGGRLGAESRTLLVIAHPDDEAMFFAPT
VLGLARLRHWVYLLCFSAGNYYNQGETRKKELLQSCDVLGIPLSSVMIIDNRDFPDDPGM
QWDTEHVARVLLQHIEVNGINLVVTFDAGGVSGHSNHIALYAAVRALHSEGKLPKGCSVL
TLQSVNVLRKYISLLDLPLSLLHTQDVLFVLNSKEVAQAKKAMSCHRSQLLWFRRLYIIF
SRYMRINSLSFL
Sequence length 252
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Glycosylphosphatidylinositol (GPI)-anchor biosynthesis
Metabolic pathways 		  Synthesis of glycosylphosphatidylinositol (GPI)
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (16)
Causal
Disease term Disease name dbSNP ID References
Amyotrophic lateral sclerosis Amyotrophic Lateral Sclerosis rs267607084, rs312262720, rs312262752, rs121908287, rs121908288, rs29001584, rs28941475, rs121434378, rs386134173, rs386134174, rs80356730, rs80356727, rs4884357, rs80356717, rs80356733
View all (171 more)		 22959728, 24931836
Autism Autistic Disorder, Autistic behavior rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699
View all (8 more)
Chime syndrome Zunich neuroectodermal syndrome, CHIME syndrome rs145303331, rs758633805, rs139004722, rs770084126 22444671, 28371479, 27604308
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Show/Hide Unknown Diseases (3)
Unknown
Disease term Disease name Evidence References Source
Ptosis Blepharoptosis, Ptosis ClinVar
Hyperphosphatasia With Mental Retardation hyperphosphatasia-intellectual disability syndrome GenCC
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis GWAS
Show/Hide Text Mining Associations (13)
Associations from Text Mining
Disease Name Relationship Type References
Burkitt Lymphoma Associate 19302917
Carcinoma Hepatocellular Associate 37280393
Coloboma Associate 35258128
Developmental Disabilities Associate 28327575
Glycosylphosphatidylinositol deficiency Associate 19302917
Hyperostosis corticalis deformans juvenilis Associate 30813920
Hyperphosphatasia with Mental Retardation Associate 30813920
Intellectual Disability Associate 22444671, 23561847, 30813920, 35258128
Muscle Hypotonia Associate 23561847
Neoplasms Associate 37280393