• Gene id: 5081

Gene Summary

• Gene Symbol: PAX7   Gene   UCSC   Ensembl
• Aliases: HUP1, MYOSCO, PAX7B, RMS2
• Gene name: paired box 7
• Alternate names: paired box protein Pax-7, PAX7 transcriptional factor, paired box homeotic gene 7, paired domain gene 7,
• Gene location: 1p36.13 (114806038: 114784634)     Exons: 4     NC_000009.12
• Gene summary(Entrez): This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and c
• OMIM: 167410

Protein Summary

• Protein general information: P23759  
  • Name: Paired box protein Pax 7 (HuP1)
  • Length: 505  
  • Mass: 55119
• Sequence:

  MAALPGTVPRMMRPAPGQNYPRTGFPLEVSTPLGQGRVNQLGGVFINGRPLPNHIRHKIVEMAHHGIRPCVISRQ
  LRVSHGCVSKILCRYQETGSIRPGAIGGSKPRQVATPDVEKKIEEYKRENPGMFSWEIRDRLLKDGHCDRSTVPS
  GLVSSISRVLRIKFGKKEEEDEADKKEDDGEKKAKHSIDGILGDKGNRLDEGSDVESEPDLPLKRKQRRSRTTFT
  AEQLEELEKAFERTHYPDIYTREELAQRTKLTEARVQVWFSNRRARWRKQAGANQLAAFNHLLPGGFPPTGMPTL
  PPYQLPDSTYPTTTISQDGGSTVHRPQPLPPSTMHQGGLAAAAAAADTSSAYGARHSFSSYSDSFMNPAAPSNHM
  NPVSNGLSPQVMSILGNPSAVPPQPQADFSISPLHGGLDSATSISASCSQRADSIKPGDSLPTSQAYCPPTYSTT
  GYSVDPVAGYQYGQYGQTAVDYLAKNVSLSTQRRMKLGEHSAVLGLLPVETGQAY

• Structural information:
  • Interpro: IPR009057  IPR017970  IPR001356  IPR003654  IPR001523   IPR022106  IPR036388  
  • Prosite: PS00027 PS50071 PS50803 PS00034 PS51057
  • CDD: cd00086 cd00131
  • STRING: ENSP00000364524
• Other Databases: GeneCards:  PAX7  Malacards:  PAX7

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007517	muscle organ development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0007275	multicellular organism development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0003700	DNA-binding transcription factor activity	TAS	molecular function
GO:0009653	anatomical structure morphogenesis	TAS	biological process
GO:0043066	negative regulation of apoptotic process	TAS	biological process
GO:0014813	skeletal muscle satellite cell commitment	IEA	biological process
GO:0021527	spinal cord association neuron differentiation	IEA	biological process
GO:0021904	dorsal/ventral neural tube patterning	IEA	biological process
GO:0043403	skeletal muscle tissue regeneration	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0048706	embryonic skeletal system development	IEA	biological process
GO:0051101	regulation of DNA binding	IEA	biological process
GO:0051216	cartilage development	IEA	biological process
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006338	chromatin remodeling	IEA	biological process
GO:0007519	skeletal muscle tissue development	IEA	biological process
GO:0010453	regulation of cell fate commitment	IEA	biological process
GO:0010468	regulation of gene expression	IEA	biological process
GO:0031062	positive regulation of histone methylation	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0048663	neuron fate commitment	IEA	biological process
GO:0060415	muscle tissue morphogenesis	IEA	biological process
GO:2000288	positive regulation of myoblast proliferation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa05202	Transcriptional misregulation in cancer

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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq