Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
93210
Gene name Gene Name - the full gene name approved by the HGNC.
Post-GPI attachment to proteins phospholipase 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PGAP3
Synonyms (NCBI Gene) Gene synonyms aliases
AGLA546, CAB2, PERLD1, PP1498, hCOS16
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q12
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0005515 Function Protein binding IPI 32814053
GO:0006505 Process GPI anchor metabolic process IMP 17021251
GO:0006506 Process GPI anchor biosynthetic process IBA 21873635
GO:0006506 Process GPI anchor biosynthetic process IMP 29374258
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
611801 23719 ENSG00000161395
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Autism Autistic behavior rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699
View all (8 more)
Congenital diaphragmatic hernia Congenital diaphragmatic hernia rs121908602, rs121908604, rs864309713, rs775394591
Developmental delay Global developmental delay, Profound global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Hirschsprung disease Hirschsprung Disease rs76262710, rs75996173, rs77316810, rs75076352, rs76534745, rs76764689, rs76449634, rs377767412, rs193922699, rs75030001, rs606231342, rs1553540620, rs759944122, rs1057519322, rs1057519323
View all (4 more)
Unknown
Disease term Disease name Evidence References Source
Asthma Asthma 20860503, 21804549 ClinVar, GWAS
Hyperphosphatasia With Mental Retardation hyperphosphatasia with intellectual disability syndrome 4, hyperphosphatasia-intellectual disability syndrome GenCC
Bipolar Disorder Bipolar Disorder GWAS
Crohn Disease Crohn Disease GWAS
Associations from Text Mining
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