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Aliases for PPWD1 Gene

Aliases for PPWD1 Gene

  • Peptidylprolyl Isomerase Domain And WD Repeat Containing 1 2 3 5
  • EC 5.2.1.8 4 61
  • Spliceosome-Associated Cyclophilin 4
  • KIAA0073 4

External Ids for PPWD1 Gene

Previous GeneCards Identifiers for PPWD1 Gene

  • GC05P064895
  • GC05P061815
  • GC05P064859

Summaries for PPWD1 Gene

GeneCards Summary for PPWD1 Gene

PPWD1 (Peptidylprolyl Isomerase Domain And WD Repeat Containing 1) is a Protein Coding gene. Among its related pathways are Gene Expression and mRNA Splicing - Major Pathway. GO annotations related to this gene include peptidyl-prolyl cis-trans isomerase activity. An important paralog of this gene is PPIL2.

UniProtKB/Swiss-Prot for PPWD1 Gene

  • Putative peptidylprolyl isomerase (PPIase). PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides. May be involved in pre-mRNA splicing.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PPWD1 Gene

Genomics for PPWD1 Gene

Regulatory Elements for PPWD1 Gene

Enhancers for PPWD1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05G065478 1.9 FANTOM5 Ensembl ENCODE dbSUPER 31 -82.2 -82224 6.0 PKNOX1 FOXA2 SIN3A FEZF1 DMAP1 ZNF2 YY1 FOS ZNF263 SP3 PPWD1 CENPK TRAPPC13 ENSG00000250081 SREK1IP1 ADAMTS6 RPS2P23
GH05G065623 1.1 ENCODE 40.7 +61.6 61578 3.2 HDGF PKNOX1 FOXA2 CREB3L1 ARNT WRNIP1 ARID4B SIN3A DMAP1 YY1 PPWD1 CENPK RNU6-540P SGTB NLN TRAPPC13 ENSG00000253251 TRIM23
GH05G065562 1.1 ENCODE 40.1 +0.2 189 2.8 PKNOX1 ARNT WRNIP1 ARID4B SIN3A ZNF2 YY1 SLC30A9 ZNF143 ZNF207 PPWD1 CENPK RNU6-540P TRAPPC13 GC05M065605
GH05G065845 1.2 Ensembl ENCODE 35.9 +282.7 282693 1.9 PKNOX1 ZFP64 FEZF1 ZNF121 ZNF202 REST ZNF623 ZNF518A ZNF292 SMARCA4 PPWD1 ERBIN CENPK NLN TRAPPC13 ENSG00000269961 GC05P065768
GH05G065610 0.6 ENCODE 41 +48.7 48729 3.3 SCRT1 ZNF146 ZNF280D SAP130 SCRT2 CEBPB CEBPG PRDM1 ZNF507 TEAD3 PPWD1 CENPK ADAMTS6 GC05M065605 RNU6-540P TRAPPC13
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PPWD1 on UCSC Golden Path with GeneCards custom track

Promoters for PPWD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000181595 64 2201 PKNOX1 ARNT WRNIP1 ARID4B SIN3A ZNF2 YY1 SLC30A9 ZNF143 ZNF207

Genomic Location for PPWD1 Gene

Chromosome:
5
Start:
65,563,236 bp from pter
End:
65,587,549 bp from pter
Size:
24,314 bases
Orientation:
Plus strand

Genomic View for PPWD1 Gene

Genes around PPWD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PPWD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PPWD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PPWD1 Gene

Proteins for PPWD1 Gene

  • Protein details for PPWD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96BP3-PPWD1_HUMAN
    Recommended name:
    Peptidylprolyl isomerase domain and WD repeat-containing protein 1
    Protein Accession:
    Q96BP3
    Secondary Accessions:
    • B4DWR9
    • Q15002
    • Q7KZ89

    Protein attributes for PPWD1 Gene

    Size:
    646 amino acids
    Molecular mass:
    73575 Da
    Quaternary structure:
    • Identified in the spliceosome C complex.

    Three dimensional structures from OCA and Proteopedia for PPWD1 Gene

    Alternative splice isoforms for PPWD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PPWD1 Gene

Selected DME Specific Peptides for PPWD1 Gene

Q96BP3:
  • LSMANAG
  • SYMHRDV
  • KGMEVVQRI
  • TNGSQFF
  • PKTVENF
  • GDPTGTG
  • QTGDPTG
  • ADSDRDVFNEKPSKEEVMAATQAEGPKRVSDSAI
  • RHDRPYT
  • TLRHDRP
  • NIVFDETGHFVLYGTMLGIKVINVE
  • NRCVRILGKQENIRVMQLALFQGIAKKHRAA
  • NFDMINM

Post-translational modifications for PPWD1 Gene

  • Ubiquitination at Lys127
  • Modification sites at PhosphoSitePlus

Domains & Families for PPWD1 Gene

Graphical View of Domain Structure for InterPro Entry

Q96BP3

UniProtKB/Swiss-Prot:

PPWD1_HUMAN :
  • Belongs to the cyclophilin-type PPIase family. PPIL1 subfamily.
Family:
  • Belongs to the cyclophilin-type PPIase family. PPIL1 subfamily.
genes like me logo Genes that share domains with PPWD1: view

Function for PPWD1 Gene

Molecular function for PPWD1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Peptidylproline (omega=180) = peptidylproline (omega=0).
UniProtKB/Swiss-Prot Function:
Putative peptidylprolyl isomerase (PPIase). PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides. May be involved in pre-mRNA splicing.

Enzyme Numbers (IUBMB) for PPWD1 Gene

Gene Ontology (GO) - Molecular Function for PPWD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003755 peptidyl-prolyl cis-trans isomerase activity IEA --
GO:0016853 isomerase activity IEA --
genes like me logo Genes that share ontologies with PPWD1: view
genes like me logo Genes that share phenotypes with PPWD1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for PPWD1

CRISPR Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PPWD1 Gene

Localization for PPWD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PPWD1 Gene

Nucleus. Note=Associated with spliceosomal complexes.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PPWD1 gene
Compartment Confidence
nucleus 5
cytosol 3
plasma membrane 1

Gene Ontology (GO) - Cellular Components for PPWD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005681 spliceosomal complex IEA --
GO:0016604 nuclear body IDA --
GO:0071013 catalytic step 2 spliceosome IDA 11991638
genes like me logo Genes that share ontologies with PPWD1: view

Pathways & Interactions for PPWD1 Gene

genes like me logo Genes that share pathways with PPWD1: view

Pathways by source for PPWD1 Gene

Gene Ontology (GO) - Biological Process for PPWD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000398 mRNA splicing, via spliceosome TAS --
GO:0000413 protein peptidyl-prolyl isomerization IEA --
GO:0006397 mRNA processing IEA --
GO:0006457 protein folding IEA --
GO:0008380 RNA splicing IEA --
genes like me logo Genes that share ontologies with PPWD1: view

No data available for SIGNOR curated interactions for PPWD1 Gene

Transcripts for PPWD1 Gene

Unigene Clusters for PPWD1 Gene

Peptidylprolyl isomerase domain and WD repeat containing 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PPWD1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11a · 11b · 11c ^ 12a · 12b · 12c ^ 13a · 13b ^ 14a · 14b ^ 15
SP1: - - - - - - - -
SP2: - -
SP3:
SP4: - -
SP5: - -
SP6: - -
SP7: -
SP8: - - - -
SP9: - - -
SP10: - -

Relevant External Links for PPWD1 Gene

GeneLoc Exon Structure for
PPWD1
ECgene alternative splicing isoforms for
PPWD1

Expression for PPWD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PPWD1 Gene

Protein differential expression in normal tissues from HIPED for PPWD1 Gene

This gene is overexpressed in Lymph node (22.6), Peripheral blood mononuclear cells (10.8), and CD8 Tcells (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PPWD1 Gene



Protein tissue co-expression partners for PPWD1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PPWD1 Gene:

PPWD1

SOURCE GeneReport for Unigene cluster for PPWD1 Gene:

Hs.121432

Evidence on tissue expression from TISSUES for PPWD1 Gene

  • Nervous system(4.5)
  • Bone marrow(4.3)
  • Bone(4)
  • Kidney(2.5)
  • Intestine(2.4)
  • Blood(2.2)
  • Adrenal gland(2)
  • Gall bladder(2)
  • Stomach(2)
  • Thyroid gland(2)
genes like me logo Genes that share expression patterns with PPWD1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PPWD1 Gene

Orthologs for PPWD1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PPWD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PPWD1 34 35
  • 99.64 (n)
dog
(Canis familiaris)
Mammalia PPWD1 34 35
  • 94.17 (n)
cow
(Bos Taurus)
Mammalia PPWD1 34 35
  • 93.74 (n)
oppossum
(Monodelphis domestica)
Mammalia PPWD1 35
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ppwd1 34 16 35
  • 90.51 (n)
rat
(Rattus norvegicus)
Mammalia Ppwd1 34
  • 90.51 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PPWD1 35
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves PPWD1 34 35
  • 82.77 (n)
lizard
(Anolis carolinensis)
Reptilia PPWD1 35
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ppwd1 34
  • 76.63 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.12731 34
zebrafish
(Danio rerio)
Actinopterygii ppwd1 34 35
  • 74.61 (n)
Dr.14630 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008660 34
  • 60.7 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG3511 34 35
  • 59.34 (n)
worm
(Caenorhabditis elegans)
Secernentea cyn-15 34
  • 55.46 (n)
cyn-16 35
  • 14 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons CYP71 34
  • 57.28 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.5002 34
rice
(Oryza sativa)
Liliopsida Os.13002 34
wheat
(Triticum aestivum)
Liliopsida Ta.4166 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1069 35
  • 57 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes cyp9 34
  • 51.74 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU09819 34
  • 51.28 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6715 34
Species where no ortholog for PPWD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for PPWD1 Gene

ENSEMBL:
Gene Tree for PPWD1 (if available)
TreeFam:
Gene Tree for PPWD1 (if available)

Paralogs for PPWD1 Gene

Paralogs for PPWD1 Gene

genes like me logo Genes that share paralogs with PPWD1: view

Variants for PPWD1 Gene

Sequence variations from dbSNP and Humsavar for PPWD1 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs1000106206 -- 65,572,405(+) TCTTA(C/G)CACAT intron-variant
rs1000228751 -- 65,566,280(+) GCTCC(A/C)GAAGT intron-variant
rs1000524675 -- 65,581,110(+) TAAAT(G/T)TATGA intron-variant
rs1000529473 -- 65,585,792(+) GAAGA(C/T)GACCT intron-variant
rs1000742355 -- 65,574,156(+) CACGT(A/G)GTAAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PPWD1 Gene

Variant ID Type Subtype PubMed ID
esv3894204 CNV loss 25118596

Variation tolerance for PPWD1 Gene

Residual Variation Intolerance Score: 25.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.52; 29.57% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PPWD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PPWD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PPWD1 Gene

Disorders for PPWD1 Gene

Relevant External Links for PPWD1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PPWD1

No disorders were found for PPWD1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PPWD1 Gene

Publications for PPWD1 Gene

  1. Prediction of the coding sequences of unidentified human genes. II. The coding sequences of 40 new genes (KIAA0041-KIAA0080) deduced by analysis of cDNA clones from human cell line KG-1. (PMID: 7584044) Nomura N. … Tabata S. (DNA Res. 1994) 2 3 4 64
  2. The crystal structure of human WD40 repeat-containing peptidylprolyl isomerase (PPWD1). (PMID: 18397323) Davis T.L. … Dhe-Paganon S. (FEBS J. 2008) 3 4 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. Purification and characterization of native spliceosomes suitable for three-dimensional structural analysis. (PMID: 11991638) Jurica M.S. … Moore M.J. (RNA 2002) 3 4 64

Products for PPWD1 Gene

Sources for PPWD1 Gene

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