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PGAP1 (post-GPI attachment to proteins 1)

Identity

Alias_symbol (synonym)FLJ12377
Bst1
SPG67
Other aliasISPD3024
MRT42
HGNC (Hugo) PGAP1
LocusID (NCBI) 80055
Atlas_Id 71856
Location 2q33.1  [Link to chromosome band 2q33]
Location_base_pair Starts at 196833004 and ends at 196926731 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
PGAP1 (2q33.1) / SPAG16 (2q34)PGAP1 (2q33.1) / VWC2L (2q34)PGAP1 VWC2L
PGAP1 SPAG16

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)PGAP1   25712
Cards
Entrez_Gene (NCBI)PGAP1  80055  post-GPI attachment to proteins 1
AliasesBst1; ISPD3024; MRT42; SPG67
GeneCards (Weizmann)PGAP1
Ensembl hg19 (Hinxton)ENSG00000197121 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000197121 [Gene_View]  chr2:196833004-196926731 [Contig_View]  PGAP1 [Vega]
ICGC DataPortalENSG00000197121
TCGA cBioPortalPGAP1
AceView (NCBI)PGAP1
Genatlas (Paris)PGAP1
WikiGenes80055
SOURCE (Princeton)PGAP1
Genetics Home Reference (NIH)PGAP1
Genomic and cartography
GoldenPath hg38 (UCSC)PGAP1  -     chr2:196833004-196926731 -  2q33.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PGAP1  -     2q33.1   [Description]    (hg19-Feb_2009)
EnsemblPGAP1 - 2q33.1 [CytoView hg19]  PGAP1 - 2q33.1 [CytoView hg38]
Mapping of homologs : NCBIPGAP1 [Mapview hg19]  PGAP1 [Mapview hg38]
OMIM611655   615802   
Gene and transcription
Genbank (Entrez)AB128038 AK001646 AK022439 AK124764 AK302663
RefSeq transcript (Entrez)NM_001321099 NM_001321100 NM_024989
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PGAP1
Cluster EST : UnigeneHs.229988 [ NCBI ]
CGAP (NCI)Hs.229988
Alternative Splicing GalleryENSG00000197121
Gene ExpressionPGAP1 [ NCBI-GEO ]   PGAP1 [ EBI - ARRAY_EXPRESS ]   PGAP1 [ SEEK ]   PGAP1 [ MEM ]
Gene Expression Viewer (FireBrowse)PGAP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)80055
GTEX Portal (Tissue expression)PGAP1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ75T13   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ75T13  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ75T13
Splice isoforms : SwissVarQ75T13
Catalytic activity : Enzyme3.1.-.- [ Enzyme-Expasy ]   3.1.-.-3.1.-.- [ IntEnz-EBI ]   3.1.-.- [ BRENDA ]   3.1.-.- [ KEGG ]   
PhosPhoSitePlusQ75T13
Domaine pattern : Prosite (Expaxy)LIPASE_SER (PS00120)   
Domains : Interpro (EBI)AB_hydrolase    PGAP1-like   
Domain families : Pfam (Sanger)PGAP1 (PF07819)   
Domain families : Pfam (NCBI)pfam07819   
Conserved Domain (NCBI)PGAP1
DMDM Disease mutations80055
Blocks (Seattle)PGAP1
SuperfamilyQ75T13
Human Protein AtlasENSG00000197121
Peptide AtlasQ75T13
HPRD10147
IPIIPI00178415   IPI00827590   IPI00828204   IPI00645792   IPI00983225   IPI00915894   IPI00917757   IPI00917505   
Protein Interaction databases
DIP (DOE-UCLA)Q75T13
IntAct (EBI)Q75T13
FunCoupENSG00000197121
BioGRIDPGAP1
STRING (EMBL)PGAP1
ZODIACPGAP1
Ontologies - Pathways
QuickGOQ75T13
Ontology : AmiGOnuclease activity  endoplasmic reticulum  endoplasmic reticulum membrane  sensory perception of sound  embryonic pattern specification  anterior/posterior axis specification  protein transport  myo-inositol transport  integral component of membrane  attachment of GPI anchor to protein  hydrolase activity, acting on ester bonds  forebrain regionalization  phosphoric ester hydrolase activity  nucleic acid phosphodiester bond hydrolysis  
Ontology : EGO-EBInuclease activity  endoplasmic reticulum  endoplasmic reticulum membrane  sensory perception of sound  embryonic pattern specification  anterior/posterior axis specification  protein transport  myo-inositol transport  integral component of membrane  attachment of GPI anchor to protein  hydrolase activity, acting on ester bonds  forebrain regionalization  phosphoric ester hydrolase activity  nucleic acid phosphodiester bond hydrolysis  
Pathways : KEGGGlycosylphosphatidylinositol(GPI)-anchor biosynthesis   
NDEx NetworkPGAP1
Atlas of Cancer Signalling NetworkPGAP1
Wikipedia pathwaysPGAP1
Orthology - Evolution
OrthoDB80055
GeneTree (enSembl)ENSG00000197121
Phylogenetic Trees/Animal Genes : TreeFamPGAP1
HOVERGENQ75T13
HOGENOMQ75T13
Homologs : HomoloGenePGAP1
Homology/Alignments : Family Browser (UCSC)PGAP1
Gene fusions - Rearrangements
Fusion: TCGAPGAP1 VWC2L
Fusion: TCGAPGAP1 SPAG16
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPGAP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PGAP1
dbVarPGAP1
ClinVarPGAP1
1000_GenomesPGAP1 
Exome Variant ServerPGAP1
ExAC (Exome Aggregation Consortium)PGAP1 (select the gene name)
Genetic variants : HAPMAP80055
Genomic Variants (DGV)PGAP1 [DGVbeta]
DECIPHERPGAP1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPGAP1 
Mutations
ICGC Data PortalPGAP1 
TCGA Data PortalPGAP1 
Broad Tumor PortalPGAP1
OASIS PortalPGAP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPGAP1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPGAP1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PGAP1
DgiDB (Drug Gene Interaction Database)PGAP1
DoCM (Curated mutations)PGAP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PGAP1 (select a term)
intoGenPGAP1
Cancer3DPGAP1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611655    615802   
Orphanet22835    11804   
MedgenPGAP1
Genetic Testing Registry PGAP1
NextProtQ75T13 [Medical]
TSGene80055
GENETestsPGAP1
Target ValidationPGAP1
Huge Navigator PGAP1 [HugePedia]
snp3D : Map Gene to Disease80055
BioCentury BCIQPGAP1
ClinGenPGAP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD80055
Chemical/Pharm GKB GenePA162399235
Clinical trialPGAP1
Miscellaneous
canSAR (ICR)PGAP1 (select the gene name)
Probes
Litterature
PubMed17 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePGAP1
EVEXPGAP1
GoPubMedPGAP1
iHOPPGAP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed May 31 15:36:08 CEST 2017

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