• Gene id: 23398

Gene Summary

• Gene Symbol: PPWD1   Gene   UCSC   Ensembl
• Gene name: peptidylprolyl isomerase domain and WD repeat containing 1
• Alternate names: peptidylprolyl isomerase domain and WD repeat-containing protein 1, epididymis secretory sperm binding protein, spliceosome-associated cyclophilin,
• Gene location: 5q12.3 (65563238: 65587548)     Exons: 13     NC_000005.10
• OMIM: 618274

Protein Summary

• Protein general information: Q96BP3  
  • Name: Peptidylprolyl isomerase domain and WD repeat containing protein 1 (EC 5.2.1.8) (Spliceosome associated cyclophilin)
  • Length: 646  
  • Mass: 73575
• Sequence:

  MAAESGSDFQQRRRRRRDPEEPEKTELSERELAVAVAVSQENDEENEERWVGPLPVEATLAKKRKVLEFERVYLD
  NLPSASMYERSYMHRDVITHVVCTKTDFIITASHDGHVKFWKKIEEGIEFVKHFRSHLGVIESIAVSSEGALFCS
  VGDDKAMKVFDVVNFDMINMLKLGYFPGQCEWIYCPGDAISSVAASEKSTGKIFIYDGRGDNQPLHIFDKLHTSP
  LTQIRLNPVYKAVVSSDKSGMIEYWTGPPHEYKFPKNVNWEYKTDTDLYEFAKCKAYPTSVCFSPDGKKIATIGS
  DRKVRIFRFVTGKLMRVFDESLSMFTELQQMRQQLPDMEFGRRMAVERELEKVDAVRLINIVFDETGHFVLYGTM
  LGIKVINVETNRCVRILGKQENIRVMQLALFQGIAKKHRAATTIEMKASENPVLQNIQADPTIVCTSFKKNRFYM
  FTKREPEDTKSADSDRDVFNEKPSKEEVMAATQAEGPKRVSDSAIIHTSMGDIHTKLFPVECPKTVENFCVHSRN
  GYYNGHTFHRIIKGFMIQTGDPTGTGMGGESIWGGEFEDEFHSTLRHDRPYTLSMANAGSNTNGSQFFITVVPTP
  WLDNKHTVFGRVTKGMEVVQRISNVKVNPKTDKPYEDVSIINITVK

• Structural information:
  • Protein Domains: (490..64-)
    (/note="PPIase-cyclophilin-type)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00156"-)
  • Interpro: IPR029000  IPR002130  IPR015943  IPR001680  IPR017986   IPR036322  
  • Prosite: PS50072 PS50082 PS50294
  • PDB: 2A2N 5YZG
  • PDBsum: 2A2N 5YZG
  • STRING: ENSP00000261308
• Other Databases: GeneCards:  PPWD1  Malacards:  PPWD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000413	protein peptidyl-prolyl isomerization	IBA	biological process
GO:0003755	peptidyl-prolyl cis-trans isomerase activity	IBA	molecular function
GO:0016018	cyclosporin A binding	IDA	molecular function
GO:0003755	peptidyl-prolyl cis-trans isomerase activity	IDA	molecular function
GO:0000413	protein peptidyl-prolyl isomerization	IDA	biological process
GO:0071013	catalytic step 2 spliceosome	IDA	cellular component
GO:0000398	mRNA splicing, via spliceosome	IC	biological process
GO:0000413	protein peptidyl-prolyl isomerization	IEA	biological process
GO:0003755	peptidyl-prolyl cis-trans isomerase activity	IEA	molecular function
GO:0003755	peptidyl-prolyl cis-trans isomerase activity	IEA	molecular function
GO:0005681	spliceosomal complex	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0008380	RNA splicing	IEA	biological process
GO:0006397	mRNA processing	IEA	biological process
GO:0016853	isomerase activity	IEA	molecular function
GO:0003755	peptidyl-prolyl cis-trans isomerase activity	IEA	molecular function
GO:0000398	mRNA splicing, via spliceosome	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016604	nuclear body	IDA	cellular component

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)