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 ... See more...

Aliases for PROX1 Gene

Aliases for PROX1 Gene

  • Prospero Homeobox 1 2 3 5
  • Homeobox Prospero-Like Protein PROX1 3 4
  • Prospero Homeobox Protein 1 3 4
  • Prospero-Related Homeobox 1 2 3
  • PROX-1 4

External Ids for PROX1 Gene

Previous GeneCards Identifiers for PROX1 Gene

  • GC01P212818
  • GC01P209982
  • GC01P210777
  • GC01P211218
  • GC01P210550
  • GC01P212228
  • GC01P214156
  • GC01P184836

Summaries for PROX1 Gene

Entrez Gene Summary for PROX1 Gene

  • 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]

GeneCards Summary for PROX1 Gene

PROX1 (Prospero Homeobox 1) is a Protein Coding gene. Diseases associated with PROX1 include Lymphangioma and Inflammatory Breast Carcinoma. Among its related pathways are Circadian rythm related genes and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and transcription regulatory region DNA binding. An important paralog of this gene is PROX2.

UniProtKB/Swiss-Prot Summary for PROX1 Gene

  • Transcription factor involved in developmental processes such as cell fate determination, gene transcriptional regulation and progenitor cell regulation in a number of organs. Plays a critical role in embryonic development and functions as a key regulatory protein in neurogenesis and the development of the heart, eye lens, liver, pancreas and the lymphatic system. Involved in the regulation of the circadian rhythm. Represses: transcription of the retinoid-related orphan receptor RORG, transcriptional activator activity of RORA and RORG and the expression of RORA/G-target genes including core clock components: ARNTL/BMAL1, NPAS2 and CRY1 and metabolic genes: AVPR1A and ELOVL3.

Gene Wiki entry for PROX1 Gene

Additional gene information for PROX1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PROX1 Gene

Genomics for PROX1 Gene

GeneHancer (GH) Regulatory Elements for PROX1 Gene

Promoters and enhancers for PROX1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J213986 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 510.7 +5.5 5519 5.4 POLR2G CTCF ZNF639 ZNF10 ZIC2 ZBTB26 SAP30 KLF7 TGIF2 ZBTB7A PROX1 PROX1-AS1 ENSG00000274895 lnc-SMYD2-1
GH01J213982 Promoter/Enhancer 1.2 Ensembl dbSUPER 500.7 -0.4 -380 0.8 HNRNPK POLR2G ZIC2 ZNF423 ZBTB26 ZKSCAN8 HDAC2 ZNF341 EZH2 PCBP1 PROX1 PROX1-AS1 RF00004-010
GH01J213984 Enhancer 1 FANTOM5 dbSUPER 509.9 +1.4 1376 0.1 ZNF10 ZIC2 ZNF423 ZNF341 OSR2 MYNN WT1 FOXA2 TCF7L2 TCF12 PROX1 ENSG00000274895 PROX1-AS1
GH01J214026 Enhancer 1.6 UCNEbase Ensembl ENCODE dbSUPER 10.7 +46.0 46003 5.6 EP300 NCOR1 TEAD4 KDM6A TCF7 ZBTB25 TGIF2 SKI TEAD1 TBX3 ENSG00000272167 PROX1 lnc-SMYD2-1 LINC02775
GH01J214017 Enhancer 1 UCNEbase Ensembl dbSUPER 11.1 +34.2 34220 3.6 POLR2G TCF12 RBM22 BATF ELF1 PRDM1 HNF4A HLF BHLHE40 YY1 PROX1 ENSG00000272167 lnc-SMYD2-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PROX1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PROX1

Top Transcription factor binding sites by QIAGEN in the PROX1 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • HNF-4alpha1
  • HNF-4alpha2

Genomic Locations for PROX1 Gene

Genomic Locations for PROX1 Gene
chr1:213,983,181-214,041,510
(GRCh38/hg38)
Size:
58,330 bases
Orientation:
Plus strand
chr1:214,156,524-214,214,595
(GRCh37/hg19)
Size:
58,072 bases
Orientation:
Plus strand

Genomic View for PROX1 Gene

Genes around PROX1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PROX1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PROX1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PROX1 Gene

Proteins for PROX1 Gene

  • Protein details for PROX1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92786-PROX1_HUMAN
    Recommended name:
    Prospero homeobox protein 1
    Protein Accession:
    Q92786
    Secondary Accessions:
    • A6NK29
    • A8K2B1
    • Q5SW76
    • Q8TB91

    Protein attributes for PROX1 Gene

    Size:
    737 amino acids
    Molecular mass:
    83203 Da
    Quaternary structure:
    • Interacts with RORA and RORG (via AF-2 motif).

    Three dimensional structures from OCA and Proteopedia for PROX1 Gene

neXtProt entry for PROX1 Gene

Post-translational modifications for PROX1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for PROX1
  • Biorbyt antibodies for PROX1
  • Santa Cruz Biotechnology (SCBT) Antibodies for PROX1

No data available for DME Specific Peptides for PROX1 Gene

Domains & Families for PROX1 Gene

Gene Families for PROX1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for PROX1 Gene

Blocks:
  • Homeobox prospero-like
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PROX1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ51261, highly similar to Homeobox prospero-like protein PROX1 (B4DP41_HUMAN)
  • Homeobox prospero-like protein PROX1 (PROX1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q92786

UniProtKB/Swiss-Prot:

PROX1_HUMAN :
  • The Prospero-type homeodomain and the adjacent Prospero domain act as a single structural unit, the Homeo-Prospero domain. The Prospero-type homeodomain is essential for repression of RORG transcriptional activator activity.
Domain:
  • The Prospero-type homeodomain and the adjacent Prospero domain act as a single structural unit, the Homeo-Prospero domain. The Prospero-type homeodomain is essential for repression of RORG transcriptional activator activity.
  • Belongs to the Prospero homeodomain family.
genes like me logo Genes that share domains with PROX1: view

Function for PROX1 Gene

Molecular function for PROX1 Gene

UniProtKB/Swiss-Prot Function:
Transcription factor involved in developmental processes such as cell fate determination, gene transcriptional regulation and progenitor cell regulation in a number of organs. Plays a critical role in embryonic development and functions as a key regulatory protein in neurogenesis and the development of the heart, eye lens, liver, pancreas and the lymphatic system. Involved in the regulation of the circadian rhythm. Represses: transcription of the retinoid-related orphan receptor RORG, transcriptional activator activity of RORA and RORG and the expression of RORA/G-target genes including core clock components: ARNTL/BMAL1, NPAS2 and CRY1 and metabolic genes: AVPR1A and ELOVL3.
GENATLAS Biochemistry:
prospero-related homeo box 1,chicken homeo domain protein PROX1 homolog,highly expressed in lens,retina,pancreas

Phenotypes From GWAS Catalog for PROX1 Gene

Gene Ontology (GO) - Molecular Function for PROX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding ISS --
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISS,NAS 19274049
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific IDA 15143342
GO:0003677 DNA binding IMP 18815287
GO:0003700 DNA-binding transcription factor activity IC 19210544
genes like me logo Genes that share ontologies with PROX1: view
genes like me logo Genes that share phenotypes with PROX1: view

Animal Models for PROX1 Gene

MGI Knock Outs for PROX1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PROX1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PROX1 Gene

Localization for PROX1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PROX1 Gene

Nucleus. Note=RORG promotes its nuclear localization. {ECO:0000250 UniProtKB:P48437}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PROX1 gene
Compartment Confidence
nucleus 5
cytosol 3
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Cytosol (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PROX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IBA,ISS --
GO:0005737 cytoplasm IDA 11850194
genes like me logo Genes that share ontologies with PROX1: view

Pathways & Interactions for PROX1 Gene

genes like me logo Genes that share pathways with PROX1: view

Pathways by source for PROX1 Gene

1 Cell Signaling Technology pathway for PROX1 Gene

SIGNOR curated interactions for PROX1 Gene

Activates:
Inactivates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for PROX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IDA 15205472
GO:0001709 cell fate determination IEA --
GO:0001822 kidney development IEP 8812486
GO:0001889 liver development IEP 11789987
GO:0001938 positive regulation of endothelial cell proliferation IDA 19210544
genes like me logo Genes that share ontologies with PROX1: view

Drugs & Compounds for PROX1 Gene

(1) Drugs for PROX1 Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Atenolol Approved Pharma Antagonist 112

(1) Additional Compounds for PROX1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PROX1: view

Transcripts for PROX1 Gene

mRNA/cDNA for PROX1 Gene

2 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PROX1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PROX1 Gene

No ASD Table

Relevant External Links for PROX1 Gene

GeneLoc Exon Structure for
PROX1

Expression for PROX1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PROX1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PROX1 Gene

This gene is overexpressed in Liver (x13.2).

Protein differential expression in normal tissues from HIPED for PROX1 Gene

This gene is overexpressed in Liver (25.0), Fetal testis (15.2), Fetal ovary (7.7), and Fetal Liver (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PROX1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PROX1

SOURCE GeneReport for Unigene cluster for PROX1 Gene:

Hs.744931

mRNA Expression by UniProt/SwissProt for PROX1 Gene:

Q92786-PROX1_HUMAN
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.

Evidence on tissue expression from TISSUES for PROX1 Gene

  • Liver(4.6)
  • Nervous system(4.6)
  • Muscle(4.3)
  • Heart(2.9)
  • Eye(2.2)
genes like me logo Genes that share expression patterns with PROX1: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for PROX1 Gene

Orthologs for PROX1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PROX1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PROX1 31 30
  • 100 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PROX1 31 30
  • 96.79 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PROX1 31 30
  • 94.93 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Prox1 30
  • 92.26 (n)
mouse
(Mus musculus)
Mammalia Prox1 17 31 30
  • 92.04 (n)
oppossum
(Monodelphis domestica)
Mammalia PROX1 31
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PROX1 31
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves PROX1 31 30
  • 88.86 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PROX1 31
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia prox1 30
  • 83.61 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.1033 30
zebrafish
(Danio rerio)
Actinopterygii prox1a 31 30
  • 75.94 (n)
OneToOne
prox1 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3509 30
fruit fly
(Drosophila melanogaster)
Insecta pros 31 32
  • 11 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ceh-26 32
  • 58 (a)
pros-1 31
  • 27 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 35 (a)
OneToMany
Species where no ortholog for PROX1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PROX1 Gene

ENSEMBL:
Gene Tree for PROX1 (if available)
TreeFam:
Gene Tree for PROX1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PROX1: view image

Paralogs for PROX1 Gene

Paralogs for PROX1 Gene

(1) SIMAP similar genes for PROX1 Gene using alignment to 3 proteins:

  • PROX1_HUMAN
  • C9JU29_HUMAN
  • U3KPY6_HUMAN
genes like me logo Genes that share paralogs with PROX1: view

Variants for PROX1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PROX1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
734444 Likely Benign: not provided 213,996,634(+) T/C SYNONYMOUS_VARIANT
745885 Likely Benign: not provided 213,996,718(+) T/C SYNONYMOUS_VARIANT
749798 Likely Benign: not provided 213,997,840(+) G/A SYNONYMOUS_VARIANT
rs12121210 - p.His584Arg

Additional dbSNP identifiers (rs#s) for PROX1 Gene

Structural Variations from Database of Genomic Variants (DGV) for PROX1 Gene

Variant ID Type Subtype PubMed ID
nsv4498 CNV insertion 18451855
nsv952088 CNV deletion 24416366

Variation tolerance for PROX1 Gene

Residual Variation Intolerance Score: 4.63% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.60; 12.81% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PROX1 Gene

Human Gene Mutation Database (HGMD)
PROX1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PROX1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PROX1 Gene

Disorders for PROX1 Gene

MalaCards: The human disease database

(20) MalaCards diseases for PROX1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
lymphangioma
  • benign lymphangioma
inflammatory breast carcinoma
  • inflammatory carcinoma of breast
acquired hemangioma
kaposiform hemangioendothelioma
  • congenital cutaneous multifocal kaposiform hemangioendothelioma
hemangioma
  • hemangiomas
- elite association - COSMIC cancer census association via MalaCards
Search PROX1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PROX1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PROX1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PROX1 Gene

Publications for PROX1 Gene

  1. Structure and chromosomal localization of the human homeobox gene Prox 1. (PMID: 8812486) Zinovieva RD … Tomarev SI (Genomics 1996) 2 3 4 54
  2. Prospero-related homeobox 1 (Prox1) functions as a novel modulator of retinoic acid-related orphan receptors α- and γ-mediated transactivation. (PMID: 23723244) Takeda Y … Jetten AM (Nucleic acids research 2013) 3 4 54
  3. Transcription factor PROX1: its role in development and cancer. (PMID: 22733308) Elsir T … Nistér M (Cancer metastasis reviews 2012) 3 4 54
  4. Evaluating the discriminative power of multi-trait genetic risk scores for type 2 diabetes in a northern Swedish population. (PMID: 20571754) Fontaine-Bisson B … Franks PW (Diabetologia 2010) 3 41 54
  5. Type 2 diabetes risk alleles near ADCY5, CDKAL1 and HHEX-IDE are associated with reduced birthweight. (PMID: 20490451) Andersson EA … Pedersen O (Diabetologia 2010) 3 41 54

Products for PROX1 Gene

  • Biorbyt antibodies for PROX1

Sources for PROX1 Gene