• Gene id: 29943

Gene Summary

• Gene Symbol: PADI1   Gene   UCSC   Ensembl
• Aliases: HPAD10, PAD1, PDI, PDI1
• Gene name: peptidyl arginine deiminase 1
• Alternate names: protein-arginine deiminase type-1, hPAD-colony 10, peptidyl arginine deiminase, type I, peptidylarginine deiminase I, protein-arginine deiminase type I,
• Gene location: 1p36.13 (148644750: 148788490)     Exons: 15     NC_000002.12
• Gene summary(Entrez): This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distin
• OMIM: 607934

Protein Summary

• Protein general information: Q9ULC6  
  • Name: Protein arginine deiminase type 1 (EC 3.5.3.15) (Peptidylarginine deiminase I) (Protein arginine deiminase type I)
  • Length: 663  
  • Mass: 74666
  • Tissue specificity: Detected in epidermal keratinocytes (at protein level). Epidermis, prostate, testis, placenta, spleen and thymus. {ECO
• Sequence:

  MAPKRVVQLSLKMPTHAVCVVGVEAHVDIHSDVPKGANSFRVSGSSGVEVFMVYNRTRVKEPIGKARWPLDTDAD
  MVVSVGTASKELKDFKVRVSYFGEQEDQALGRSVLYLTGVDISLEVDTGRTGKVKRSQGDKKTWRWGPEGYGAIL
  LVNCDRDNHRSAEPDLTHSWLMSLADLQDMSPMLLSCNGPDKLFDSHKLVLNVPFSDSKRVRVFCARGGNSLSDY
  KQVLGPQCLSYEVERQPGEQEIKFYVEGLTFPDADFLGLVSLSVSLVDPGTLPEVTLFTDTVGFRMAPWIMTPNT
  QPPEELYVCRVMDTHGSNEKFLEDMSYLTLKANCKLTICPQVENRNDRWIQDEMEFGYIEAPHKSFPVVFDSPRN
  RGLKDFPYKRILGPDFGYVTREIPLPGPSSLDSFGNLDVSPPVTVGGTEYPLGRILIGSSFPKSGGRQMARAVRN
  FLKAQQVQAPVELYSDWLSVGHVDEFLTFVPTSDQKGFRLLLASPSACLKLFQEKKEEGYGEAAQFDGLKHQAKR
  SINEMLADRHLQRDNLHAQKCIDWNRNVLKRELGLAESDIVDIPQLFFLKNFYAEAFFPDMVNMVVLGKYLGIPK
  PYGPIINGRCCLEEKVQSLLEPLGLHCIFIDDYLSYHELQGEIHCGTNVRRKPFPFKWWNMVP

• Structural information:
  • Interpro: IPR008972  IPR004303  IPR013530  IPR036556  IPR013732   IPR038685  IPR013733  
  • PDB: 5HP5
  • PDBsum: 5HP5
  • STRING: ENSP00000364620
• Other Databases: GeneCards:  PADI1  Malacards:  PADI1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004668	protein-arginine deiminase activity	IBA	molecular function
GO:0036414	histone citrullination	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0018101	protein citrullination	IDA	biological process
GO:0004668	protein-arginine deiminase activity	IDA	molecular function
GO:0005509	calcium ion binding	IDA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0004668	protein-arginine deiminase activity	IEA	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0018101	protein citrullination	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0004668	protein-arginine deiminase activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0006325	chromatin organization	TAS	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq