• Gene id: 5396

Gene Summary

• Gene Symbol: PRRX1   Gene   UCSC   Ensembl
• Aliases: AGOTC, PHOX1, PMX1, PRX-1, PRX1
• Gene name: paired related homeobox 1
• Alternate names: paired mesoderm homeobox protein 1, homeobox protein PHOX1, paired mesoderm homeobox 1 isoform pmx-1b,
• Gene location: 1q24.2 (170662727: 170739420)     Exons: 12     NC_000001.11
• Gene summary(Entrez): The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins localized to the nucleus. The protein functions as a transcription co-activator, enhancing the DNA-binding activity of serum response factor, a protein r
• OMIM: 167420

Protein Summary

• Protein general information: P54821  
  • Name: Paired mesoderm homeobox protein 1 (Homeobox protein PHOX1) (Paired related homeobox protein 1) (PRX 1)
  • Length: 245  
  • Mass: 27296
• Sequence:

  MTSSYGHVLERQPALGGRLDSPGNLDTLQAKKNFSVSHLLDLEEAGDMVAAQADENVGEAGRSLLESPGLTSGSD
  TPQQDNDQLNSEEKKKRKQRRNRTTFNSSQLQALERVFERTHYPDAFVREDLARRVNLTEARVQVWFQNRRAKFR
  RNERAMLANKNASLLKSYSGDVTAVEQPIVPRPAPRPTDYLSWGTASPYSAMATYSATCANNSPAQGINMANSIA
  NLRLKAKEYSLQRNQVPTVN

• Structural information:
  • Interpro: IPR009057  IPR017970  IPR001356  IPR003654  
  • Prosite: PS00027 PS50071 PS50803
  • CDD: cd00086
  • STRING: ENSP00000239461
• Other Databases: GeneCards:  PRRX1  Malacards:  PRRX1

Gene ontology

GO accession	Term name	Evidence code	Go category
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
GO:0007275	multicellular organism development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	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:0030326	embryonic limb morphogenesis	IEA	biological process
GO:0042472	inner ear morphogenesis	IEA	biological process
GO:0048701	embryonic cranial skeleton morphogenesis	IEA	biological process
GO:0051216	cartilage development	IEA	biological process
GO:0070570	regulation of neuron projection regeneration	IEA	biological process
GO:0071837	HMG box domain binding	IEA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA	molecular function
GO:0002053	positive regulation of mesenchymal cell proliferation	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0003713	transcription coactivator activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0042474	middle ear morphogenesis	IEA	biological process
GO:0045880	positive regulation of smoothened signaling pathway	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0048664	neuron fate determination	IEA	biological process
GO:0048704	embryonic skeletal system morphogenesis	IEA	biological process
GO:0048844	artery morphogenesis	IEA	biological process
GO:0060021	roof of mouth development	IEA	biological process
GO:0097150	neuronal stem cell population maintenance	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function

Diseases

Associated diseases	References
Agnathia-otocephaly complex	KEGG:H02118
Agnathia-otocephaly complex	KEGG:H02118
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881