• Gene id: 5316

Gene Summary

• Gene Symbol: PKNOX1   Gene   UCSC   Ensembl
• Aliases: PREP1, pkonx1c
• Gene name: PBX/knotted 1 homeobox 1
• Alternate names: homeobox protein PKNOX1, PBX/knotted homeobox 1, Pbx regulating protein-1, homeobox protein PREP-1, human homeobox-containing protein,
• Gene location: 21q22.3 (42974509: 43033930)     Exons: 11     NC_000021.9
• OMIM: 603191

Protein Summary

• Protein general information: P55347  
  • Name: Homeobox protein PKNOX1 (Homeobox protein PREP 1) (PBX/knotted homeobox 1)
  • Length: 436  
  • Mass: 47607
  • Tissue specificity: Ubiquitous. Isoform 2 is expressed in all examined tissues except in bone marrow. {ECO
• Sequence:

  MMATQTLSIDSYQDGQQMQVVTELKTEQDPNCSEPDAEGVSPPPVESQTPMDVDKQAIYRHPLFPLLALLFEKCE
  QSTQGSEGTTSASFDVDIENFVRKQEKEGKPFFCEDPETDNLMVKAIQVLRIHLLELEKVNELCKDFCSRYIACL
  KTKMNSETLLSGEPGSPYSPVQSQQIQSAITGTISPQGIVVPASALQQGNVAMATVAGGTVYQPVTVVTPQGQVV
  TQTLSPGTIRIQNSQLQLQLNQDLSILHQDDGSSKNKRGVLPKHATNVMRSWLFQHIGHPYPTEDEKKQIAAQTN
  LTLLQVNNWFINARRRILQPMLDSSCSETPKTKKKTAQNRPVQRFWPDSIASGVAQPPPSELTMSEGAVVTITTP
  VNMNVDSLQSLSSDGATLAVQQVMMAGQSEDESVDSTEEDAGALAPAHISGLVLENSDSLQ

• Structural information:
  • Interpro: IPR009057  IPR001356  IPR008422  IPR032453  
  • Prosite: PS50071
  • CDD: cd00086
  • PDB: 1X2N
  • PDBsum: 1X2N
  • STRING: ENSP00000291547
• Other Databases: GeneCards:  PKNOX1  Malacards:  PKNOX1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0001525	angiogenesis	IBA	biological process
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003700	DNA-binding transcription factor activity	TAS	molecular function
GO:0006366	transcription by RNA polymerase II	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0001525	angiogenesis	IEA	biological process
GO:0003682	chromatin binding	IEA	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0030218	erythrocyte differentiation	IEA	biological process
GO:0043010	camera-type eye development	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005667	transcription regulator complex	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0030097	hemopoiesis	IEA	biological process
GO:0030217	T cell differentiation	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0001525	angiogenesis	IBA	biological process
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003700	DNA-binding transcription factor activity	TAS	molecular function
GO:0006366	transcription by RNA polymerase II	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0001525	angiogenesis	IEA	biological process
GO:0003682	chromatin binding	IEA	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0030218	erythrocyte differentiation	IEA	biological process
GO:0043010	camera-type eye development	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005667	transcription regulator complex	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0030097	hemopoiesis	IEA	biological process
GO:0030217	T cell differentiation	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospermatogenesis	MIK: 28361989

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray