PPWD1 (peptidylprolyl isomerase domain and WD repeat containing 1)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 23398
Gene name Peptidylprolyl isomerase domain and WD repeat containing 1
Gene symbol PPWD1
Synonyms (NCBI Gene)
-
Chromosome 5
Chromosome location 5q12.3
miRNA miRNA information provided by mirtarbase database.
298
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (298)
miRTarBase ID miRNA Experiments Reference
MIRT038269 hsa-miR-361-3p CLASH 23622248
MIRT719649 hsa-miR-4999-5p HITS-CLIP 19536157
MIRT719648 hsa-miR-630 HITS-CLIP 19536157
MIRT719647 hsa-miR-6883-3p HITS-CLIP 19536157
MIRT719646 hsa-miR-6875-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (13)
GO ID Ontology Definition Evidence Reference
GO:0000398 Process MRNA splicing, via spliceosome IC 11991638
GO:0003755 Function Peptidyl-prolyl cis-trans isomerase activity IBA
GO:0003755 Function Peptidyl-prolyl cis-trans isomerase activity IDA 20676357
GO:0003755 Function Peptidyl-prolyl cis-trans isomerase activity IEA
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
618274 28954 ENSG00000113593
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96BP3
Protein name Peptidylprolyl isomerase domain and WD repeat-containing protein 1 (EC 5.2.1.8) (Spliceosome-associated cyclophilin)
Protein function PPIase that catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and may therefore assist protein folding (PubMed:20676357). May be involved in pre-mRNA splicing (PubMed:11991638). {ECO:0000269|PubMed:11991638,
PDB 2A2N , 5YZG , 7A5P , 8I0W , 9FMD
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00400 WD40 123 → 161 WD domain, G-beta repeat Repeat
PF00400 WD40 276 → 308 WD domain, G-beta repeat Repeat
PF00160 Pro_isomerase 493 → 645 Cyclophilin type peptidyl-prolyl cis-trans isomerase/CLD Domain
Sequence 
MAAESGSDFQQRRRRRRDPEEPEKTELSERELAVAVAVSQENDEENEERWVGPLPVEATL
AKKRKVLEFERVYLDNLPSASMYERSYMHRDVITHVVCTKTDFIITASHDGHVKFWKKIE
EGIEFVKHFRSHLGVIESIAVSSEGALFCSVGDDKAMKVFDVVNFDMINMLKLGYFPGQC
EWIYCPGDAISSVAASEKSTGKIFIYDGRGDNQPLHIFDKLHTSPLTQIRLNPVYKAVVS
SDKSGMIEYWTGPPHEYKFPKNVNWEYKTDTDLYEFAKCKAYPTSVCFSPDGKKIATIGS
DRKVRIFRFVTGKLMRVFDESLSMFTELQQMRQQLPDMEFGRRMAVERELEKVDAVRLIN
IVFDETGHFVLYGTMLGIKVINVETNRCVRILGKQENIRVMQLALFQGIAKKHRAATTIE
MKASENPVLQNIQADPTIVCTSFKKNRFYMFTKREPEDTKSADSDRDVFNEKPSKEEVMA
ATQAEGPKRVSDSAIIHTSMGDIHTKLFPVECPKTVENFCVHSRNGYYNGHTFHRIIKGF
MIQTGDPTGTGMGGESIWGGEFEDEFHSTLRHDRPYTLSMANAGSNTNGSQFFITVVPTP
WLDNKHTVFGRVTKGMEVVQRISNVKVNPKTDKPYEDVSIINITVK
Sequence length 646
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    mRNA Splicing - Major Pathway
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (1)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
GILLES DE LA TOURETTE SYNDROME — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (4)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Carcinoma Renal Cell Renal cell carcinoma Pubtator 24479813 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Neuroendocrine Tumors Neuroendocrine Tumors BEFREE 25098566
★★★★★
★☆☆☆☆
Found in Text Mining only
Osteoporosis Osteoporosis Pubtator 31432133 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Osteoporosis, Postmenopausal Osteoporosis BEFREE 31432133
★★★★★
★☆☆☆☆
Found in Text Mining only