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PPWD1 (peptidylprolyl isomerase domain and WD repeat containing 1)

Identity

Alias (NCBI)-
HGNC (Hugo) PPWD1
HGNC Alias symbKIAA0073
LocusID (NCBI) 23398
Atlas_Id 72163
Location 5q12.3  [Link to chromosome band 5q12]
Location_base_pair Starts at 65563296 and ends at 65587549 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ERBIN (5q12.3) / PPWD1 (5q12.3)PPWD1 (5q12.3) / GABRE (Xq28)

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)PPWD1   28954
Cards
Entrez_Gene (NCBI)PPWD1    peptidylprolyl isomerase domain and WD repeat containing 1
Aliases
GeneCards (Weizmann)PPWD1
Ensembl hg19 (Hinxton)ENSG00000113593 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000113593 [Gene_View]  ENSG00000113593 [Sequence]  chr5:65563296-65587549 [Contig_View]  PPWD1 [Vega]
ICGC DataPortalENSG00000113593
TCGA cBioPortalPPWD1
AceView (NCBI)PPWD1
Genatlas (Paris)PPWD1
SOURCE (Princeton)PPWD1
Genetics Home Reference (NIH)PPWD1
Genomic and cartography
GoldenPath hg38 (UCSC)PPWD1  -     chr5:65563296-65587549 +  5q12.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PPWD1  -     5q12.3   [Description]    (hg19-Feb_2009)
GoldenPathPPWD1 - 5q12.3 [CytoView hg19]  PPWD1 - 5q12.3 [CytoView hg38]
ImmunoBaseENSG00000113593
Genome Data Viewer NCBIPPWD1 [Mapview hg19]  
OMIM618274   
Gene and transcription
Genbank (Entrez)AK025679 AK057718 AK093675 AK298175 AK300022
RefSeq transcript (Entrez)NM_001278926 NM_001278927 NM_001278929 NM_015342
Consensus coding sequences : CCDS (NCBI)PPWD1
Gene ExpressionPPWD1 [ NCBI-GEO ]   PPWD1 [ EBI - ARRAY_EXPRESS ]   PPWD1 [ SEEK ]   PPWD1 [ MEM ]
Gene Expression Viewer (FireBrowse)PPWD1 [ Firebrowse - Broad ]
GenevisibleExpression of PPWD1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23398
GTEX Portal (Tissue expression)PPWD1
Human Protein AtlasENSG00000113593-PPWD1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96BP3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96BP3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96BP3
PhosPhoSitePlusQ96BP3
Domaine pattern : Prosite (Expaxy)CSA_PPIASE_2 (PS50072)    WD_REPEATS_2 (PS50082)    WD_REPEATS_REGION (PS50294)   
Domains : Interpro (EBI)Cyclophilin-like_dom_sf    Cyclophilin-type_PPIase_dom    WD40/YVTN_repeat-like_dom_sf    WD40_repeat    WD40_repeat_dom    WD40_repeat_dom_sf   
Domain families : Pfam (Sanger)Pro_isomerase (PF00160)    WD40 (PF00400)   
Domain families : Pfam (NCBI)pfam00160    pfam00400   
Domain families : Smart (EMBL)WD40 (SM00320)  
Conserved Domain (NCBI)PPWD1
PDB (RSDB)2A2N    5YZG    7A5P   
PDB Europe2A2N    5YZG    7A5P   
PDB (PDBSum)2A2N    5YZG    7A5P   
PDB (IMB)2A2N    5YZG    7A5P   
Structural Biology KnowledgeBase2A2N    5YZG    7A5P   
SCOP (Structural Classification of Proteins)2A2N    5YZG    7A5P   
CATH (Classification of proteins structures)2A2N    5YZG    7A5P   
SuperfamilyQ96BP3
AlphaFold pdb e-kbQ96BP3   
Human Protein Atlas [tissue]ENSG00000113593-PPWD1 [tissue]
HPRD11063
Protein Interaction databases
DIP (DOE-UCLA)Q96BP3
IntAct (EBI)Q96BP3
BioGRIDPPWD1
STRING (EMBL)PPWD1
ZODIACPPWD1
Ontologies - Pathways
QuickGOQ96BP3
Ontology : AmiGOmRNA splicing, via spliceosome  mRNA splicing, via spliceosome  protein peptidyl-prolyl isomerization  protein peptidyl-prolyl isomerization  peptidyl-prolyl cis-trans isomerase activity  peptidyl-prolyl cis-trans isomerase activity  nucleoplasm  cyclosporin A binding  nuclear body  catalytic step 2 spliceosome  
Ontology : EGO-EBImRNA splicing, via spliceosome  mRNA splicing, via spliceosome  protein peptidyl-prolyl isomerization  protein peptidyl-prolyl isomerization  peptidyl-prolyl cis-trans isomerase activity  peptidyl-prolyl cis-trans isomerase activity  nucleoplasm  cyclosporin A binding  nuclear body  catalytic step 2 spliceosome  
NDEx NetworkPPWD1
Atlas of Cancer Signalling NetworkPPWD1
Wikipedia pathwaysPPWD1
Orthology - Evolution
OrthoDB23398
GeneTree (enSembl)ENSG00000113593
Phylogenetic Trees/Animal Genes : TreeFamPPWD1
Homologs : HomoloGenePPWD1
Homology/Alignments : Family Browser (UCSC)PPWD1
Gene fusions - Rearrangements
Fusion : QuiverPPWD1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPPWD1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PPWD1
dbVarPPWD1
ClinVarPPWD1
MonarchPPWD1
1000_GenomesPPWD1 
Exome Variant ServerPPWD1
GNOMAD BrowserENSG00000113593
Varsome BrowserPPWD1
ACMGPPWD1 variants
VarityQ96BP3
Genomic Variants (DGV)PPWD1 [DGVbeta]
DECIPHERPPWD1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPPWD1 
Mutations
ICGC Data PortalPPWD1 
TCGA Data PortalPPWD1 
Broad Tumor PortalPPWD1
OASIS PortalPPWD1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPPWD1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DPPWD1
Mutations and Diseases : HGMDPPWD1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaPPWD1
DgiDB (Drug Gene Interaction Database)PPWD1
DoCM (Curated mutations)PPWD1
CIViC (Clinical Interpretations of Variants in Cancer)PPWD1
Cancer3DPPWD1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM618274   
Orphanet
DisGeNETPPWD1
MedgenPPWD1
Genetic Testing Registry PPWD1
NextProtQ96BP3 [Medical]
GENETestsPPWD1
Target ValidationPPWD1
Huge Navigator PPWD1 [HugePedia]
ClinGenPPWD1
Clinical trials, drugs, therapy
MyCancerGenomePPWD1
Protein Interactions : CTDPPWD1
Pharm GKB GenePA142671149
PharosQ96BP3
Clinical trialPPWD1
Miscellaneous
canSAR (ICR)PPWD1
HarmonizomePPWD1
DataMed IndexPPWD1
Probes
Litterature
PubMed23 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXPPWD1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 16:17:02 CEST 2021

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