Gene Gene information from NCBI Gene database.
Entrez ID 93210
Gene name Post-GPI attachment to proteins phospholipase 3
Gene symbol PGAP3
Synonyms (NCBI Gene)
AGLA546CAB2PERLD1PP1498hCOS16
Chromosome 17
Chromosome location 17q12
Summary This gene encodes a glycosylphosphatidylinositol (GPI)-specific phospholipase that primarily localizes to the Golgi apparatus. This ubiquitously expressed gene is predicted to encode a seven-transmembrane protein that removes unsaturated fatty acids from
SNPs SNP information provided by dbSNP.
21
SNP ID Visualize variation Clinical significance Consequence
rs144574243 C>A,T Pathogenic Splice donor variant, intron variant
rs183208638 G>A Conflicting-interpretations-of-pathogenicity 3 prime UTR variant, non coding transcript variant, genic downstream transcript variant
rs200598755 C>T Likely-pathogenic, pathogenic Non coding transcript variant, intron variant
rs202146344 G>A Pathogenic, uncertain-significance Intron variant, coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant
rs371549948 G>A,C Pathogenic Intron variant, coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
366
miRTarBase ID miRNA Experiments Reference
MIRT712655 hsa-miR-4311 HITS-CLIP 19536157
MIRT712654 hsa-miR-513c-5p HITS-CLIP 19536157
MIRT712653 hsa-miR-514b-5p HITS-CLIP 19536157
MIRT712655 hsa-miR-4311 HITS-CLIP 19536157
MIRT712654 hsa-miR-513c-5p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0005515 Function Protein binding IPI 32814053, 33961781
GO:0005789 Component Endoplasmic reticulum membrane IBA
GO:0005789 Component Endoplasmic reticulum membrane IDA 12460457
GO:0005794 Component Golgi apparatus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611801 23719 ENSG00000161395
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96FM1
Protein name GPI-specific phospholipase A2-like PGAP3 (EC 3.1.1.-) (COS16 homolog) (hCOS16) (Gene coamplified with ERBB2 protein) (PER1-like domain-containing protein 1) (Post-GPI attachment to proteins factor 3)
Protein function Involved in the fatty acid remodeling steps of GPI-anchor maturation where the unsaturated acyl chain at sn-2 of inositol phosphate is replaced by a saturated stearoyl chain (PubMed:17021251, PubMed:24439110). May catalyze the first step of the
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04080 Per1 54 306 Per1-like family Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed, with highest levels in thyroid and placenta. {ECO:0000269|PubMed:12460457}.
Sequence
Sequence length 320
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Glycosylphosphatidylinositol (GPI)-anchor biosynthesis
Metabolic pathways
 
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
53
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hyperphosphatasia with intellectual disability syndrome 4 Pathogenic; Likely pathogenic rs587777251, rs587777252, rs371549948, rs2057353041, rs2145169684, rs2057353122, rs2543759733, rs869312813, rs869312814, rs869312817, rs200598755, rs869312816, rs869312815, rs869312812, rs202146344
View all (10 more)
RCV000111462
RCV000111464
RCV000111465
RCV001784824
RCV002244257
RCV002250912
RCV002283732
RCV002465973
RCV000210266
RCV000210267
RCV000210284
RCV000210276
RCV000210271
RCV000210253
RCV000210252
RCV000210258
RCV003890763
RCV003137996
RCV002509410
RCV000590911
RCV001783116
RCV000709689
RCV000626176
RCV001194673
RCV000985140
RCV001261977
Hyperphosphatasia-intellectual disability syndrome Likely pathogenic rs765928877 RCV003994630
PGAP3-related disorder Likely pathogenic; Pathogenic rs750093817 RCV003403130
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Gastric cancer Likely benign rs112105873 RCV005932087
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abnormalities Multiple Associate 30813920
Adenocarcinoma Of Esophagus Associate 16849520
Asthma Associate 22188591, 31959860, 32078577
Capillary Malformation Arteriovenous Malformation Associate 29310717
Carcinogenesis Associate 20187983
Congenital Abnormalities Associate 36849876
Corpus Callosum Agenesis of with Facial Anomalies and Robin Sequence Associate 29620724
Crohn Disease Inhibit 26484354
Developmental Disabilities Associate 36849876
Hernias Diaphragmatic Congenital Associate 29310717