Human Gene PROP1 (ENST00000308304.2_7) from GENCODE V47lift37
  Description: PROP paired-like homeobox 1 (from RefSeq NM_006261.5)
Gencode Transcript: ENST00000308304.2_7
Gencode Gene: ENSG00000175325.2_8
Transcript (Including UTRs)
   Position: hg19 chr5:177,419,236-177,423,243 Size: 4,008 Total Exon Count: 3 Strand: -
Coding Region
   Position: hg19 chr5:177,419,710-177,422,934 Size: 3,225 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:177,419,236-177,423,243)mRNA (may differ from genome)Protein (226 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PROP1_HUMAN
DESCRIPTION: RecName: Full=Homeobox protein prophet of Pit-1; Short=PROP-1; AltName: Full=Pituitary-specific homeodomain factor;
FUNCTION: Possibly involved in the ontogenesis of pituitary gonadotropes, as well as somatotropes, lactotropes and caudomedial thyrotropes.
SUBCELLULAR LOCATION: Nucleus (By similarity).
TISSUE SPECIFICITY: Expressed specifically in embryonic pituitary.
DISEASE: Defects in PROP1 are the cause of pituitary hormone deficiency combined type 2 (CPHD2) [MIM:262600]; also known as pituitary dwarfism III. It is characterized by impaired production of growth hormone (GH) and one or more of the other five anterior pituitary hormones.
SIMILARITY: Belongs to the paired homeobox family.
SIMILARITY: Contains 1 homeobox DNA-binding domain.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PROP1";

-  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


-  MalaCards Disease Associations
  MalaCards Gene Search: PROP1
Diseases sorted by gene-association score: pituitary hormone deficiency, combined, 2* (1599), combined pituitary hormone deficiencies, genetic forms* (750), combined pituitary hormone deficiency* (441), hypothyroidism due to deficient transcription factors involved in pituitary development or function* (350), prop1-related combined pituitary hormone deficiency* (100), hypopituitarism (39), pituitary tumors (23), septooptic dysplasia (21), hypothyroidism, congenital, nongoitrous 4 (15), pituitary gland disease (13), acth deficiency (9), isolated growth hormone deficiency (9), growth hormone deficiency (8), neonatal thyrotoxicosis (8), anosognosia (7), borjeson-forssman-lehmann syndrome (7), craniopharyngioma (7), central nervous system organ benign neoplasm (4), alternating hemiplegia of childhood (4), kallmann syndrome (3)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  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: 1.12 RPKM in Pituitary
Total median expression: 1.49 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 -77.10309-0.250 Picture PostScript Text
3' UTR -139.20474-0.294 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
IPR017970 - Homeobox_CS
IPR001356 - Homeodomain
IPR009057 - Homeodomain-like
IPR000047 - HTH_motif

Pfam Domains:
PF00046 - Homeodomain

SCOP Domains:
46689 - Homeodomain-like

ModBase Predicted Comparative 3D Structure on O75360
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 DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001205 transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific binding
GO:0001206 transcriptional repressor activity, RNA polymerase II distal enhancer sequence-specific binding
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0005515 protein binding
GO:0008013 beta-catenin binding
GO:0008022 protein C-terminus binding
GO:0043565 sequence-specific DNA binding

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001568 blood vessel development
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0007417 central nervous system development
GO:0009887 animal organ morphogenesis
GO:0009953 dorsal/ventral pattern formation
GO:0016477 cell migration
GO:0021979 hypothalamus cell differentiation
GO:0021984 adenohypophysis development
GO:0043066 negative regulation of apoptotic process
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048732 gland development
GO:0048850 hypophysis morphogenesis
GO:0060070 canonical Wnt signaling pathway
GO:0060126 somatotropin secreting cell differentiation

Cellular Component:
GO:0005634 nucleus
GO:0005667 transcription factor complex


-  Descriptions from all associated GenBank mRNAs
  AF076215 - Homo sapiens prophet of Pit1 (PROP1) mRNA, complete cds.
BC069076 - Homo sapiens PROP paired-like homeobox 1, mRNA (cDNA clone MGC:95351 IMAGE:7216890), complete cds.
KJ897386 - Synthetic construct Homo sapiens clone ccsbBroadEn_06780 PROP1 gene, encodes complete protein.
AB528592 - Synthetic construct DNA, clone: pF1KB7591, Homo sapiens PROP1 gene for PROP paired-like homeobox protein 1, without stop codon, in Flexi system.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000308304.1, NM_006261, O75360, PROP1_HUMAN, uc317ogy.1, uc317ogy.2
UCSC ID: ENST00000308304.2_7
RefSeq Accession: NM_006261.5
Protein: O75360 (aka PROP1_HUMAN or PRH1_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene PROP1:
prop1 (PROP1-Related Combined Pituitary Hormone Deficiency)

-  Gene Model Information
  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.