Human Gene PROX1 (uc001hkg.2)
  Description: Homo sapiens prospero homeobox 1 (PROX1), transcript variant 1, mRNA.
RefSeq Summary (NM_001270616): 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 is conserved across vertebrates and may play an essential role during development. Altered levels of this protein have been reported in cancers of different organs, such as colon, brain, blood, breast, pancreas, liver and esophagus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012].
Transcript (Including UTRs)
   Position: hg19 chr1:214,161,278-214,214,847 Size: 53,570 Total Exon Count: 5 Strand: +
Coding Region
   Position: hg19 chr1:214,169,879-214,209,177 Size: 39,299 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:214,161,278-214,214,847)mRNA (may differ from genome)Protein (737 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
H-INVHGNCHPRDLynxMalacardsMGI
neXtProtOMIMPubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PROX1_HUMAN
DESCRIPTION: RecName: Full=Prospero homeobox protein 1; AltName: Full=Homeobox prospero-like protein PROX1; Short=PROX-1;
FUNCTION: May play a fundamental role in early development of CNS. May regulate gene expression and development of postmitotic undifferentiated young neurons (By similarity).
INTERACTION: P56545:CTBP2; NbExp=2; IntAct=EBI-3912635, EBI-741533;
SUBCELLULAR LOCATION: Nucleus (Probable).
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.
SIMILARITY: Belongs to the Prospero homeobox family.
SIMILARITY: Contains 1 Prospero-type homeobox DNA-binding domain.
SEQUENCE CAUTION: Sequence=CAI15309.1; Type=Erroneous gene model prediction;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): PROX1
CDC HuGE Published Literature: PROX1
Positive Disease Associations: Creatinine , fasting glucose-related traits , Hemoglobin A, Glycosylated , Stroke
Related Studies:
  1. Creatinine
    , , . [PubMed 0]
  2. fasting glucose-related traits
    Dupuis ,et al. Nat Genet 2010, New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk , Nature genetics 2010 42- 2 : 105-16. [PubMed 20081858]
  3. fasting glucose-related traits
    Dupuis ,et al. Nat Genet 2010, New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk , Nature genetics 2010 42- 2 : 105-16. [PubMed 20081858]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: PROX1
Diseases sorted by gene-association score: angiokeratoma of fordyce (16), acquired hemangioma (15), capillary lymphangioma (15), lymphangioma (14), kaposiform hemangioendothelioma (13), inflammatory breast carcinoma (12), lymphangiosarcoma (12), lymphedema (11), interstitial emphysema (11), lymphatic malformations (10), spindle cell hemangioma (9), hemangioma (9), hennekam syndrome (8), angiosarcoma (7), gorham's disease (6), skin hemangioma (6), lymphatic system cancer (4)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 18.84 RPKM in Liver
Total median expression: 95.30 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -177.57616-0.288 Picture PostScript Text
3' UTR -1393.625670-0.246 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR023082 - Homeo_prospero_dom
IPR009057 - Homeodomain-like
IPR007738 - Prox1

Pfam Domains:
PF05044 - Homeo-prospero domain

SCOP Domains:
46689 - Homeodomain-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2LMD - NMR MuPIT


ModBase Predicted Comparative 3D Structure on Q92786
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
      
      
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001046 core promoter sequence-specific DNA binding
GO:0001078 transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding
GO:0003677 DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0003705 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding
GO:0003714 transcription corepressor activity
GO:0005515 protein binding
GO:0016922 ligand-dependent nuclear receptor binding
GO:0043565 sequence-specific DNA binding
GO:0044212 transcription regulatory region DNA binding
GO:0050692 DBD domain binding
GO:0050693 LBD domain binding

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001709 cell fate determination
GO:0001822 kidney development
GO:0001889 liver development
GO:0001938 positive regulation of endothelial cell proliferation
GO:0001945 lymph vessel development
GO:0001946 lymphangiogenesis
GO:0002088 lens development in camera-type eye
GO:0002089 lens morphogenesis in camera-type eye
GO:0002194 hepatocyte cell migration
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0007275 multicellular organism development
GO:0007420 brain development
GO:0007623 circadian rhythm
GO:0008284 positive regulation of cell proliferation
GO:0008285 negative regulation of cell proliferation
GO:0010468 regulation of gene expression
GO:0010595 positive regulation of endothelial cell migration
GO:0021516 dorsal spinal cord development
GO:0021542 dentate gyrus development
GO:0021707 cerebellar granule cell differentiation
GO:0021915 neural tube development
GO:0030182 neuron differentiation
GO:0030240 skeletal muscle thin filament assembly
GO:0030324 lung development
GO:0030910 olfactory placode formation
GO:0031016 pancreas development
GO:0031667 response to nutrient levels
GO:0042752 regulation of circadian rhythm
GO:0043049 otic placode formation
GO:0043433 negative regulation of sequence-specific DNA binding transcription factor activity
GO:0045071 negative regulation of viral genome replication
GO:0045446 endothelial cell differentiation
GO:0045737 positive regulation of cyclin-dependent protein serine/threonine kinase activity
GO:0045787 positive regulation of cell cycle
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0046619 optic placode formation involved in camera-type eye formation
GO:0048511 rhythmic process
GO:0048839 inner ear development
GO:0048845 venous blood vessel morphogenesis
GO:0055005 ventricular cardiac myofibril assembly
GO:0055007 cardiac muscle cell differentiation
GO:0055009 atrial cardiac muscle tissue morphogenesis
GO:0055010 ventricular cardiac muscle tissue morphogenesis
GO:0060042 retina morphogenesis in camera-type eye
GO:0060059 embryonic retina morphogenesis in camera-type eye
GO:0060214 endocardium formation
GO:0060298 positive regulation of sarcomere organization
GO:0060412 ventricular septum morphogenesis
GO:0060414 aorta smooth muscle tissue morphogenesis
GO:0060421 positive regulation of heart growth
GO:0060836 lymphatic endothelial cell differentiation
GO:0060849 regulation of transcription involved in lymphatic endothelial cell fate commitment
GO:0061114 branching involved in pancreas morphogenesis
GO:0070309 lens fiber cell morphogenesis
GO:0070365 hepatocyte differentiation
GO:0070858 negative regulation of bile acid biosynthetic process
GO:0072574 hepatocyte proliferation
GO:0090425 acinar cell differentiation
GO:0097150 neuronal stem cell population maintenance
GO:1901978 positive regulation of cell cycle checkpoint
GO:2000179 positive regulation of neural precursor cell proliferation
GO:2000979 positive regulation of forebrain neuron differentiation

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm


-  Descriptions from all associated GenBank mRNAs
  AK298182 - Homo sapiens cDNA FLJ51261 complete cds, highly similar to Homeobox prospero-like protein PROX1.
U44060 - Human homeodomain protein (Prox 1) mRNA, complete cds.
BC024201 - Homo sapiens prospero homeobox 1, mRNA (cDNA clone MGC:3668 IMAGE:3532312), complete cds.
AK290176 - Homo sapiens cDNA FLJ75014 complete cds, highly similar to Homo sapiens prospero-related homeobox 1 (PROX1), mRNA.
EU446861 - Synthetic construct Homo sapiens clone IMAGE:100070349; IMAGE:100012070; FLH257266.01L prospero homeobox 1 (PROX1) gene, encodes complete protein.
AB384794 - Synthetic construct DNA, clone: pF1KB3347, Homo sapiens PROX1 gene for homeobox prospero-like protein PROX1, complete cds, without stop codon, in Flexi system.
JD073294 - Sequence 54318 from Patent EP1572962.
CS024260 - Sequence 4 from Patent WO2005014854.
JD534032 - Sequence 515056 from Patent EP1572962.
JD081934 - Sequence 62958 from Patent EP1572962.
JD041489 - Sequence 22513 from Patent EP1572962.
JD087799 - Sequence 68823 from Patent EP1572962.
JD228884 - Sequence 209908 from Patent EP1572962.
AK025453 - Homo sapiens cDNA: FLJ21800 fis, clone HEP00618.
JD284807 - Sequence 265831 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A6NK29, A8K2B1, NM_001270616, NP_002754, PROX1_HUMAN, Q5SW76, Q8TB91, Q92786, uc001hkg.1
UCSC ID: uc001hkg.2
RefSeq Accession: NM_001270616
Protein: Q92786 (aka PROX1_HUMAN)
CCDS: CCDS31021.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001270616.1
exon count: 5CDS single in 3' UTR: no RNA size: 8505
ORF size: 2214CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 4616.00frame shift in genome: no % Coverage: 99.93
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 1
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.