• Gene id: 56979

Gene Summary

• Gene Symbol: PRDM9   Gene   UCSC   Ensembl
• Aliases: KMT8B, MEISETZ, MSBP3, PFM6, ZNF899
• Gene name: PR/SET domain 9
• Alternate names: histone-lysine N-methyltransferase PRDM9, PR domain 9, PR domain containing 9, PR domain zinc finger protein 9, histone methyl transferase, minisatellite binding protein 3 (115kD),
• Gene location: 5p14.2 (23507608: 23528596)     Exons: 11     NC_000005.10
• Gene summary(Entrez): The protein encoded by this gene is a zinc finger protein with histone methyltransferase activity that catalyzes histone H3 lysine 4 trimethylation (H3K4me3) during meiotic prophase. This protein contains multiple domains, including a Kruppel-associated b
• OMIM: 609760

Protein Summary

• Protein general information: Q9NQV7  
  • Name: Histone lysine N methyltransferase PRDM9 (EC 2.1.1.43) (PR domain zinc finger protein 9) (PR domain containing protein 9)
  • Length: 894  
  • Mass: 103,376
• Sequence:

  MSPEKSQEESPEEDTERTERKPMVKDAFKDISIYFTKEEWAEMGDWEKTRYRNVKRNYNALITIGLRATRPAFMC
  HRRQAIKLQVDDTEDSDEEWTPRQQVKPPWMALRVEQRKHQKGMPKASFSNESSLKELSRTANLLNASGSEQAQK
  PVSPSGEASTSGQHSRLKLELRKKETERKMYSLRERKGHAYKEVSEPQDDDYLYCEMCQNFFIDSCAAHGPPTFV
  KDSAVDKGHPNRSALSLPPGLRIGPSGIPQAGLGVWNEASDLPLGLHFGPYEGRITEDEEAANNGYSWLITKGRN
  CYEYVDGKDKSWANWMRYVNCARDDEEQNLVAFQYHRQIFYRTCRVIRPGCELLVWYGDEYGQELGIKWGSKWKK
  ELMAGREPKPEIHPCPSCCLAFSSQKFLSQHVERNHSSQNFPGPSARKLLQPENPCPGDQNQEQQYPDPHSRNDK
  TKGQEIKERSKLLNKRTWQREISRAFSSPPKGQMGSCRVGKRIMEEESRTGQKVNPGNTGKLFVGVGISRIAKVK
  YGECGQGFSVKSDVITHQRTHTGEKLYVCRECGRGFSWKSHLLIHQRIHTGEKPYVCRECGRGFSWQSVLLTHQR
  THTGEKPYVCRECGRGFSRQSVLLTHQRRHTGEKPYVCRECGRGFSRQSVLLTHQRRHTGEKPYVCRECGRGFSW
  QSVLLTHQRTHTGEKPYVCRECGRGFSWQSVLLTHQRTHTGEKPYVCRECGRGFSNKSHLLRHQRTHTGEKPYVC
  RECGRGFRDKSHLLRHQRTHTGEKPYVCRECGRGFRDKSNLLSHQRTHTGEKPYVCRECGRGFSNKSHLLRHQRT
  HTGEKPYVCRECGRGFRNKSHLLRHQRTHTGEKPYVCRECGRGFSDRSSLCYHQRTHTGEKPYVCREDE

• Structural information:
  • Protein Domains: KRAB-related. (23-86)
    SET. (244-358)
  • Interpro: IPR001909  IPR036051  IPR003655  IPR001214  IPR019041   IPR036236  IPR013087  
  • Prosite: PS50806 PS50280 PS00028 PS50157
  • CDD: cd07765
  • PDB: 4IJD 5EGB 5EH2 5EI9
  • PDBsum: 4IJD 5EGB 5EH2 5EI9
  • STRING: ENSP00000296682
• Other Databases: GeneCards:  PRDM9  Malacards:  PRDM9

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0006311	meiotic gene conversion	IDA	biological process
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0010845	positive regulation of reciprocal meiotic recombination	IMP	biological process
GO:0018024	histone-lysine N-methyltransferase activity	TAS	molecular function
GO:0034968	histone lysine methylation	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0005622	intracellular	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0006311	meiotic gene conversion	IDA	biological process
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0010845	positive regulation of reciprocal meiotic recombination	IMP	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0018024	histone-lysine N-methyltransferase activity	IEA	molecular function
GO:0018024	histone-lysine N-methyltransferase activity	TAS	molecular function
GO:0032259	methylation	IEA	biological process
GO:0034968	histone lysine methylation	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0051321	meiotic cell cycle	IEA	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006311	meiotic gene conversion	IDA	biological process
GO:0010845	positive regulation of reciprocal meiotic recombination	IMP	biological process
GO:0018024	histone-lysine N-methyltransferase activity	TAS	molecular function

Diseases

Associated diseases	References
Carotid artery diseases	GAD: 17903303
Carotid artery diseases	GAD: 17903303
Azoospermia	MIK: 19168450
Azoospermia by meiotic arrest	MIK: 18941885
Non obstructive azoospermia	MIK: 19168450
Ocular physiological phenomena	GAD: 17903297
Azoospermia by meiotic arrest	MIK: 18941885
Hypospermatogenesis	MIK: 28361989
Nonobstructive azoospermia	MIK: 19168450

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
19168450	Nonobstructive azoospermia	17353G>T (Gly433Val) and 18109C>G (Thr685Arg)		379 (217 sterile male patients, 162 proven fertile male volunteers)	Male infertility
18941885	Azoospermia by meiotic arrest	PRDM9 (Exon2 C(224)T, Exon6 C(614)T, Exon9T(1086)C)	Japanes e	18 patients	Male infertility	PRDM9 (MEISETZ)
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray