Gene Gene information from NCBI Gene database.
Entrez ID 5629
Gene name Prospero homeobox 1
Gene symbol PROX1
Synonyms (NCBI Gene)
-
Chromosome 1
Chromosome location 1q32.3
Summary 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
miRNA miRNA information provided by mirtarbase database.
75
miRTarBase ID miRNA Experiments Reference
MIRT003630 hsa-miR-181a-5p Luciferase reporter assayqRT-PCRWestern blot 20558617
MIRT003630 hsa-miR-181a-5p Luciferase reporter assayqRT-PCRWestern blot 20558617
MIRT018128 hsa-miR-335-5p Microarray 18185580
MIRT019318 hsa-miR-148b-3p Microarray 17612493
MIRT037355 hsa-miR-877-5p CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
4
Transcription factor Regulation Reference
HEY1 Repression 22719258
NFKB1 Activation 19901262
PAX6 Activation 11554737
RELA Activation 19901262
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
127
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 15205472
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000785 Component Chromatin ISA
GO:0000976 Function Transcription cis-regulatory region binding IDA 19210544
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601546 9459 ENSG00000117707
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q92786
Protein name Prospero homeobox protein 1 (Homeobox prospero-like protein PROX1) (PROX-1)
Protein 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
PDB 2LMD
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05044 HPD 579 732 Homeo-prospero domain Domain
Tissue specificity 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:0000269|PubMed:8812486
Sequence
MPDHDSTALLSRQTKRRRVDIGVKRTVGTASAFFAKARATFFSAMNPQGSEQDVEYSVVQ
HADGEKSNVLRKLLKRANSYEDAMMPFPGATIISQLLKNNMNKNGGTEPSFQASGLSSTG
SEVHQEDICSNSSRDSPPECLSPFGRPTMSQFDMDRLCDEHLRAKRARVENIIRGMSHSP
SVALRGNENEREMAPQSVSPRESYRENKRKQKLPQQQQQSFQQLVSARKEQKREERRQLK
QQLEDMQKQLRQLQEKFYQIYDSTDSENDEDGNLSEDSMRSEILDARAQDSVGRSDNEMC
ELDPGQFIDRARALIREQEMAENKPKREGNNKERDHGPNSLQPEGKHLAETLKQELNTAM
SQVVDTVVKVFSAKPSRQVPQVFPPLQIPQARFAVNGENHNFHTANQRLQCFGDVIIPNP
LDTFGNVQMASSTDQTEALPLVVRKNSSDQSASGPAAGGHHQPLHQSPLSATTGFTTSTF
RHPFPLPLMAYPFQSPLGAPSGSFSGKDRASPESLDLTRDTTSLRTKMSSHHLSHHPCSP
AHPPSTAEGLSLSLIKSECGDLQDMSEISPYSGSAMQEGLSPNHLKKAKLMFFYTRYPSS
NMLKTYFSDVKFNRCITSQLIKWFSNFREFYYIQMEKYARQAINDGVTSTEELSITRDCE
LYRALNMHYNKANDFEVPERFLEVAQITLREFFNAIIAGKDVDPSWKKAIYKVICKLDSE
VPEIFKSPNCLQ
ELLHE
Sequence length 737
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CONGENITAL HEART DISEASE ClinGen, Disgenet
ClinGen, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 2 CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Acquired Immunodeficiency Syndrome Associate 20064070
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Associate 22067331, 22143938
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Follicular Associate 31060342
★☆☆☆☆
Found in Text Mining only
Albuminuria Associate 28060188
★☆☆☆☆
Found in Text Mining only
Astrocytoma Associate 27626492
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Associate 27626492
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Associate 29059430, 38206773
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Associate 18455124, 25526434, 27411302, 31060342
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Associate 18400094, 22023334
★☆☆☆☆
Found in Text Mining only
Carcinoma Non Small Cell Lung Associate 37925421
★☆☆☆☆
Found in Text Mining only