Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
80055
Gene name Gene Name - the full gene name approved by the HGNC.
Post-GPI attachment to proteins inositol deacylase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PGAP1
Synonyms (NCBI Gene) Gene synonyms aliases
Bst1, ISPD3024, MRT42, NEDDSBA, SPG67
Disease Acronyms (UniProt) Disease acronyms from UniProt database
NEDDSBA
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q33.1
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene functions early in the glycosylphosphatidylinositol (GPI) biosynthetic pathway, catalyzing the inositol deacylation of GPI. The encoded protein is required for the production of GPI that can attach to proteins, and this ma
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs143038880 G>A Pathogenic Non coding transcript variant, coding sequence variant, stop gained
rs143960563 C>T Likely-benign, likely-pathogenic Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs587777202 C>A,G,T Pathogenic Splice donor variant, genic downstream transcript variant
rs587777378 AGA>- Pathogenic 5 prime UTR variant, inframe deletion, non coding transcript variant, coding sequence variant
rs750079325 C>T Pathogenic Splice donor variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT016203 hsa-miR-590-3p Sequencing 20371350
MIRT529347 hsa-miR-6128 PAR-CLIP 22012620
MIRT726971 hsa-miR-181a-5p HITS-CLIP 22473208
MIRT726970 hsa-miR-181b-5p HITS-CLIP 22473208
MIRT726969 hsa-miR-181c-5p HITS-CLIP 22473208
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005783 Component Endoplasmic reticulum IBA 21873635
GO:0005783 Component Endoplasmic reticulum ISS
GO:0005789 Component Endoplasmic reticulum membrane TAS
GO:0006505 Process GPI anchor metabolic process IBA 21873635
GO:0006888 Process Endoplasmic reticulum to Golgi vesicle-mediated transport IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
611655 25712 ENSG00000197121
Protein
UniProt ID Q75T13
Protein name GPI inositol-deacylase (EC 3.1.-.-) (Post-GPI attachment to proteins factor 1) (hPGAP1)
Protein function GPI inositol-deacylase that catalyzes the remove of the acyl chain linked to the 2-OH position of inositol ring from the GPI-anchored protein (GPI-AP) in the endoplasmic reticulum (PubMed:24784135, PubMed:38167496). Initiates the post-attachment
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07819 PGAP1 82 302 PGAP1-like protein Family
Sequence
MFLHSVNLWNLAFYVFMVFLATLGLWDVFFGFEENKCSMSYMFEYPEYQKIELPKKLAKR
YPAYELYLYGEGSYAEEHKILPLTGIPVLFLPGNAGSYKQVRSIGSIALRKAEDIDFKYH
FDFFSVNFNEELVALYGGSLQKQTKFVHECIKTILKLYKGQEFAPKSVAIIGHSMGGLVA
RALLTLKNFKHDLINLLITQATPHVAPVMPLDRFITDFYTTVNNYWILNARHINLTTLSV
AGGFRDYQVRSGLTFLPKLSHHTSALSVVSSAVPKTWVSTDHLSIVWCKQLQLTTVRAFF
DL
IDADTKQITQNSKKKLSVLYHHFIRHPSKHFEENPAIISDLTGTSMWVLVKVSKWTYV
AYNESEKIYFTFPLENHRKIYTHVYCQSTMLDTNSWIFACINSTSMCLQGVDLSWKAELL
PTIKYLTLRLQDYPSLSHLVVYVPSVRGSKFVVDCEFFKKEKRYIQLPVTHLFSFGLSSR
KVVLNTNGLYYNLELLNFGQIYQAFKINVVSKCSAVKEEITSIYRLHIPWSYEDSLTIAQ
APSSTEISLKLHIAQPENNTHVALFKMYTSSDCRYEVTVKTSFSQILGQVVRFHGGALPA
YVVSNILLAYRGQLYSLFSTGCCLEYATMLDKEAKPYKVDPFVIIIKFLLGYKWFKELWD
VLLLPELDAVILTCQSMCFPLISLILFLFGTCTAYWSGLLSSASVRLLSSLWLALKRPSE
LPKDIKMISPDLPFLTIVLIIVSWTTCGALAILLSYLYYVFKVVHLQASLTTFKNSQPVN
PKHSRRSEKKSNHHKDSSIHHLRLSANDAEDSLRMHSTVINLLTWIVLLSMPSLIYWLKN
LRYYFKLNPDPCKPLAFILIPTMAILGNTYTVSIKSSKLLKTTSQFPLPLAVGVIAFGSA
HLYRLPCFVFIPLLLHALCNFM
Sequence length 922
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Glycosylphosphatidylinositol (GPI)-anchor biosynthesis
Metabolic pathways
  Attachment of GPI anchor to uPAR
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Agenesis of corpus callosum Agenesis of corpus callosum rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Autism Autistic behavior rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699
View all (8 more)
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Mental retardation Severe intellectual disability, Mild Mental Retardation, Moderate intellectual disability, Intellectual Disability, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
26050939, 17711852
Unknown
Disease term Disease name Evidence References Source
Mental depression Depressive disorder ClinVar
Non-Syndromic Intellectual Disability autosomal recessive non-syndromic intellectual disability GenCC
Spastic Paraplegia autosomal recessive spastic paraplegia type 67 GenCC
Associations from Text Mining
Disease Name Relationship Type References
Brain Diseases Associate 24784135
Inflammation Associate 35686740
Intellectual Disability Associate 24784135
Nasopharyngeal Carcinoma Associate 34261404
Osteoarthritis Associate 35686740
Paget Disease Extramammary Associate 34895219
Vision Disorders Associate 26350515