• Gene id: 5629

Gene Summary

• Gene Symbol: PROX1   Gene   UCSC   Ensembl
• Gene name: prospero homeobox 1
• Alternate names: prospero homeobox protein 1, homeobox prospero-like protein PROX1, prospero-related homeobox 1,
• Gene location: 1q32.3 (213983238: 214041509)     Exons: 9     NC_000001.11
• Gene summary(Entrez): The protein encoded by this gene is a member of the homeobox transcription factor family. Members of this family contain a homeobox domain that consists of a 60-amino acid helix-turn-helix structure that binds DNA and RNA. The protein encoded by this gene
• OMIM: 172860

Protein Summary

• Protein general information: Q92786  
  • Name: Prospero homeobox protein 1 (Homeobox prospero like protein PROX1) (PROX 1)
  • Length: 737  
  • Mass: 83203
  • Tissue specificity: Most actively expressed in the developing lens. Detected also in embryonic brain, lung, liver and kidney. In adult, it is more abundant in heart and liver than in brain, skeletal muscle, kidney and pancreas. {ECO
• Sequence:

  MPDHDSTALLSRQTKRRRVDIGVKRTVGTASAFFAKARATFFSAMNPQGSEQDVEYSVVQHADGEKSNVLRKLLK
  RANSYEDAMMPFPGATIISQLLKNNMNKNGGTEPSFQASGLSSTGSEVHQEDICSNSSRDSPPECLSPFGRPTMS
  QFDMDRLCDEHLRAKRARVENIIRGMSHSPSVALRGNENEREMAPQSVSPRESYRENKRKQKLPQQQQQSFQQLV
  SARKEQKREERRQLKQQLEDMQKQLRQLQEKFYQIYDSTDSENDEDGNLSEDSMRSEILDARAQDSVGRSDNEMC
  ELDPGQFIDRARALIREQEMAENKPKREGNNKERDHGPNSLQPEGKHLAETLKQELNTAMSQVVDTVVKVFSAKP
  SRQVPQVFPPLQIPQARFAVNGENHNFHTANQRLQCFGDVIIPNPLDTFGNVQMASSTDQTEALPLVVRKNSSDQ
  SASGPAAGGHHQPLHQSPLSATTGFTTSTFRHPFPLPLMAYPFQSPLGAPSGSFSGKDRASPESLDLTRDTTSLR
  TKMSSHHLSHHPCSPAHPPSTAEGLSLSLIKSECGDLQDMSEISPYSGSAMQEGLSPNHLKKAKLMFFYTRYPSS
  NMLKTYFSDVKFNRCITSQLIKWFSNFREFYYIQMEKYARQAINDGVTSTEELSITRDCELYRALNMHYNKANDF
  EVPERFLEVAQITLREFFNAIIAGKDVDPSWKKAIYKVICKLDSEVPEIFKSPNCLQELLHE

• Structural information:
  • Protein Domains: (577..63-)
    (/note="Prospero-type-homeo)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01162-)
    (636..73-)
    (/note="Prospero-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01162"-)
  • Interpro: IPR023082  IPR037131  IPR009057  IPR039350  IPR007738  
  • Prosite: PS51818
  • PDB: 2LMD
  • PDBsum: 2LMD
  • STRING: ENSP00000355925
• Other Databases: GeneCards:  PROX1  Malacards:  PROX1

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:0000122	negative regulation of transcription by RNA polymerase II	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0003700	DNA-binding transcription factor activity	IBA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISS	molecular function
GO:0045892	negative regulation of transcription, DNA-templated	IMP	biological process
GO:0042752	regulation of circadian rhythm	IMP	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0048511	rhythmic process	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0007275	multicellular organism development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	ISS	cellular component
GO:0005634	nucleus	ISS	cellular component
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:0001889	liver development	IEA	biological process
GO:0031667	response to nutrient levels	IEA	biological process
GO:0007420	brain development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0097150	neuronal stem cell population maintenance	IEA	biological process
GO:0072574	hepatocyte proliferation	IEA	biological process
GO:0070365	hepatocyte differentiation	IEA	biological process
GO:0060836	lymphatic endothelial cell differentiation	IEA	biological process
GO:0060421	positive regulation of heart growth	IEA	biological process
GO:0060414	aorta smooth muscle tissue morphogenesis	IEA	biological process
GO:0060412	ventricular septum morphogenesis	IEA	biological process
GO:0060298	positive regulation of sarcomere organization	IEA	biological process
GO:0048839	inner ear development	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0045446	endothelial cell differentiation	IEA	biological process
GO:0021707	cerebellar granule cell differentiation	IEA	biological process
GO:0010468	regulation of gene expression	IEA	biological process
GO:0007623	circadian rhythm	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0002089	lens morphogenesis in camera-type eye	IEA	biological process
GO:0001945	lymph vessel development	IEA	biological process
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:2000979	positive regulation of forebrain neuron differentiation	IEA	biological process
GO:2000179	positive regulation of neural precursor cell proliferation	IEA	biological process
GO:1901978	positive regulation of cell cycle checkpoint	IEA	biological process
GO:0090425	acinar cell differentiation	IEA	biological process
GO:0070309	lens fiber cell morphogenesis	IEA	biological process
GO:0061114	branching involved in pancreas morphogenesis	IEA	biological process
GO:0060214	endocardium formation	IEA	biological process
GO:0060059	embryonic retina morphogenesis in camera-type eye	IEA	biological process
GO:0055010	ventricular cardiac muscle tissue morphogenesis	IEA	biological process
GO:0055009	atrial cardiac muscle tissue morphogenesis	IEA	biological process
GO:0055005	ventricular cardiac myofibril assembly	IEA	biological process
GO:0048845	venous blood vessel morphogenesis	IEA	biological process
GO:0046619	optic placode formation involved in camera-type eye formation	IEA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0045787	positive regulation of cell cycle	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0030240	skeletal muscle thin filament assembly	IEA	biological process
GO:0021542	dentate gyrus development	IEA	biological process
GO:0008285	negative regulation of cell population proliferation	IEA	biological process
GO:0008284	positive regulation of cell population proliferation	IEA	biological process
GO:0002194	hepatocyte cell migration	IEA	biological process
GO:0001709	cell fate determination	IEA	biological process
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0003700	DNA-binding transcription factor activity	IC	molecular function
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0050693	LBD domain binding	IPI	molecular function
GO:0050693	LBD domain binding	IPI	molecular function
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	molecular function
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	molecular function
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	molecular function
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	molecular function
GO:0003677	DNA binding	IMP	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISS	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:0016922	nuclear receptor binding	IPI	molecular function
GO:0016922	nuclear receptor binding	IPI	molecular function
GO:0016922	nuclear receptor binding	IPI	molecular function
GO:0050692	DNA binding domain binding	IPI	molecular function
GO:0001946	lymphangiogenesis	IDA	biological process
GO:0008284	positive regulation of cell population proliferation	IDA	biological process
GO:0010595	positive regulation of endothelial cell migration	IDA	biological process
GO:0043433	negative regulation of DNA-binding transcription factor activity	IDA	biological process
GO:0043433	negative regulation of DNA-binding transcription factor activity	IDA	biological process
GO:0045071	negative regulation of viral genome replication	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0001938	positive regulation of endothelial cell proliferation	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0010468	regulation of gene expression	IDA	biological process
GO:0045737	positive regulation of cyclin-dependent protein serine/threonine kinase activity	IDA	biological process
GO:0060836	lymphatic endothelial cell differentiation	IDA	biological process
GO:0001822	kidney development	IEP	biological process
GO:0002088	lens development in camera-type eye	IEP	biological process
GO:0008285	negative regulation of cell population proliferation	IMP	biological process
GO:0021516	dorsal spinal cord development	ISS	biological process
GO:0021542	dentate gyrus development	ISS	biological process
GO:0021915	neural tube development	ISS	biological process
GO:0030240	skeletal muscle thin filament assembly	ISS	biological process
GO:0043049	otic placode formation	ISS	biological process
GO:0045787	positive regulation of cell cycle	ISS	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IMP	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IMP	biological process
GO:0046619	optic placode formation involved in camera-type eye formation	ISS	biological process
GO:0048845	venous blood vessel morphogenesis	ISS	biological process
GO:0055005	ventricular cardiac myofibril assembly	ISS	biological process
GO:0055009	atrial cardiac muscle tissue morphogenesis	ISS	biological process
GO:0055010	ventricular cardiac muscle tissue morphogenesis	ISS	biological process
GO:0060059	embryonic retina morphogenesis in camera-type eye	IEP	biological process
GO:0060214	endocardium formation	ISS	biological process
GO:0070309	lens fiber cell morphogenesis	IEP	biological process
GO:2000179	positive regulation of neural precursor cell proliferation	ISS	biological process
GO:2000979	positive regulation of forebrain neuron differentiation	ISS	biological process
GO:0001889	liver development	IEP	biological process
GO:0007420	brain development	IEP	biological process
GO:0021707	cerebellar granule cell differentiation	ISS	biological process
GO:0030324	lung development	IEP	biological process
GO:0030910	olfactory placode formation	ISS	biological process
GO:0031016	pancreas development	IEP	biological process
GO:0060042	retina morphogenesis in camera-type eye	ISS	biological process
GO:0060298	positive regulation of sarcomere organization	ISS	biological process
GO:0060412	ventricular septum morphogenesis	ISS	biological process
GO:0060414	aorta smooth muscle tissue morphogenesis	ISS	biological process
GO:0060421	positive regulation of heart growth	ISS	biological process
GO:0060849	regulation of transcription involved in lymphatic endothelial cell fate commitment	IMP	biological process
GO:0070365	hepatocyte differentiation	IEP	biological process
GO:0070858	negative regulation of bile acid biosynthetic process	IMP	biological process
GO:0097150	neuronal stem cell population maintenance	ISS	biological process
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R