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PROP1 Gene

protein-coding   GIFtS: 54
GCID: GC05M177419

PROP Paired-Like Homeobox 1

(Previous names: prophet of Pit1, paired-like homeodomain transcription factor)
  See PROP1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
PROP Paired-Like Homeobox 11 2
Prophet Of Pit1, Paired-Like Homeodomain Transcription Factor1 2
Pituitary-Specific Homeodomain Factor2 3
PROP-12 3
CPHD22 5
Homeobox Protein Prophet Of Pit-12

External Ids:    HGNC: 94551   Entrez Gene: 56262   Ensembl: ENSG000001753257   OMIM: 6015385   UniProtKB: O753603   

Export aliases for PROP1 gene to outside databases

Previous GC identifers: GC05M177574 GC05M178307 GC05M177487 GC05M177532 GC05M177351 GC05M172154


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PROP1 Gene:
This gene encodes a paired-like homeodomain transcription factor in the developing pituitary gland. Expression
occurs prior to and is required for expression of pou domain transcription factor 1, which is responsible for
pituitary development and hormone expression. Mutations in this gene have been associated with combined pituitary
hormone deficiency-2 as well as deficiencies in luteinizing hormone, follicle-stimulating hormone, growth
hormone, prolactin, and thyroid-stimulating hormone. (provided by RefSeq, Sep 2011)

GeneCards Summary for PROP1 Gene:
PROP1 (PROP paired-like homeobox 1) is a protein-coding gene. Diseases associated with PROP1 include prop1-related combined pituitary hormone deficiency, and hypopituitarism. GO annotations related to this gene include protein C-terminus binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is GSC.

UniProtKB/Swiss-Prot: PROP1_HUMAN, O75360
Function: Possibly involved in the ontogenesis of pituitary gonadotropes, as well as somatotropes, lactotropes and
caudomedial thyrotropes

Gene Wiki entry for PROP1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000005.9  NC_018916.2  NT_023133.14  NT_187546.1  NT_187652.1  
Regulatory elements:
   Regulatory transcription factor binding sites in the PROP1 gene promoter:
         Pax-5   Tal-1   p53   SREBP-1c   STAT5A   YY1   Gfi-1   SREBP-1b   E47   SREBP-1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPROP1 promoter sequence
   Search Chromatin IP Primers for PROP1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PROP1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q35.3   Ensembl cytogenetic band:  5q35.3   HGNC cytogenetic band: 5q35.3

PROP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PROP1 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M177419:  view genomic region     (about GC identifiers)

Start:
177,419,236 bp from pter      End:
177,423,243 bp from pter
Size:
4,008 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: PROP1_HUMAN, O75360 (See protein sequence)
Recommended Name: Homeobox protein prophet of Pit-1  
Size: 226 amino acids; 24984 Da

Explore the universe of human proteins at neXtProt for PROP1: NX_O75360

Explore proteomics data for PROP1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See PROP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_006252.3  
    ENSEMBL proteins: 
     ENSP00000311290  

    PROP1 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for PROP1

     
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    LSBio Antibodies in human, mouse, rat for PROP1

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    Search eBioscience for ELISAs for PROP1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PRD: Homeoboxes / PRD class

    4 InterPro protein domains:
     IPR000047 HTH_motif
     IPR017970 Homeobox_CS
     IPR001356 Homeobox_dom
     IPR009057 Homeodomain-like

    Graphical View of Domain Structure for InterPro Entry O75360

    ProtoNet protein and cluster: O75360

    1 Blocks protein domain: IPB000047 Lambda and other repressor helix-turn-helix signature

    UniProtKB/Swiss-Prot: PROP1_HUMAN, O75360
    Similarity: Belongs to the paired homeobox family
    Similarity: Contains 1 homeobox DNA-binding domain


    Find genes that share domains with PROP1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PROP1_HUMAN, O75360
    Function: Possibly involved in the ontogenesis of pituitary gonadotropes, as well as somatotropes, lactotropes and
    caudomedial thyrotropes

         Genatlas biochemistry entry for PROP1:
    prophet of PIT1,pituitary-specific,paired-like homeo domain,transcription factor,specifically expressed in
    embryonic pituitary and in pituitary tumors,necessary for PIT1 (POU1F1) expression,homolog to murine Ames dwarf
    (df),involved in the proper development of somatotrophs,lactotrophs,thyreotrophs and gonadotrophs

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000976transcription regulatory region sequence-specific DNA binding IEA--
    GO:0003677DNA binding ----
    GO:0003682chromatin binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0005515protein binding IPI--
         
    Find genes that share ontologies with PROP1           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for PROP1:
     Decreased NANOG protein expres  Decreased OCT4 protein express  Decreased POU5F1-GFP protein e 

         9 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Prop1):
     behavior/neurological  cellular  endocrine/exocrine gland  growth/size/body  homeostasis/metabolism 
     mortality/aging  nervous system  reproductive system  respiratory system 

    Find genes that share phenotypes with PROP1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for PROP1: Prop1tm1Sac Prop1tm1Rsd

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PROP1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PROP1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PROP1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PROP1

    miRNA
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    Predesigned siRNA for gene silencing in human, mouse, rat PROP1

    Gene Editing
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    Browse Sino Biological Human cDNA Clones
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    Browse ESI BIO Cell Lines and PureStem Progenitors for PROP1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PROP1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PROP1_HUMAN, O75360: Nucleus (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005667transcription factor complex IEA--

    Find genes that share ontologies with PROP1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Pathway & Disease-focused RT2 Profiler PCR Arrays including PROP1: 
              Apoptosis 384HT in human mouse rat
              Homeobox (HOX) Genes in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for PROP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    Selected Interacting proteins for PROP1 (O753601, 3 ENSP000003112904) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PITX2Q996973, ENSP000003041694I2D: score=1 STRING: ENSP00000304169
    CTNNB1P352223, ENSP000003444564I2D: score=3 STRING: ENSP00000344456
    HESX1Q9UBX03, ENSP000002959344I2D: score=1 STRING: ENSP00000295934
    CBY1Q9Y3M23, ENSP000002160294I2D: score=1 STRING: ENSP00000216029
    CTNNBIP1Q9NSA33, ENSP000003664664I2D: score=1 STRING: ENSP00000366466
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0001568blood vessel development IEA--
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0007417central nervous system development TAS9462743
    GO:0009887organ morphogenesis ----

    Find genes that share ontologies with PROP1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PROP1

    5 Novoseek inferred chemical compound relationships for PROP1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    acth 62.5 5 10634415 (2), 12780757 (1), 16984240 (1), 12717343 (1)
    gnrh 30.4 2 12536356 (1), 11220702 (1)
    steroid 0 1 15472175 (1)
    testosterone 0 2 11592567 (1)
    serine 0 3 10946881 (2)



    Find genes that share compounds with PROP1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for PROP1 gene: 
    NM_006261.4  

    Unigene Cluster for PROP1:

    PROP paired-like homeobox 1
    Hs.158301
    Unigene Representative Sequence: NM_006261
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000308304(uc003mif.1)
    miRNA
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    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat PROP1
    Clone
    Products:
         
    OriGene clones in human, mouse for PROP1 (see all 6)
    OriGene ORF clones in mouse, rat for PROP1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for PROP1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PROP1
      QuantiTect SYBR Green Assays in human, mouse, rat PROP1
      QuantiFast Probe-based Assays in human, mouse, rat PROP1

    Additional mRNA sequence: 

    AF076215.1 BC069076.1 

    1 DOTS entry:

    DT.92030461 

    3 AceView cDNA sequences:

    AF076215 BC069076 NM_006261 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PROP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGAATTCTC
    PROP1 Expression
    About this image

    PROP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PROP1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.158301

    UniProtKB/Swiss-Prot: PROP1_HUMAN, O75360
    Tissue specificity: Expressed specifically in embryonic pituitary

        Pathway & Disease-focused RT2 Profiler PCR Arrays including PROP1: 
              Apoptosis 384HT in human mouse rat
              Homeobox (HOX) Genes in human mouse rat

    Primer
    Products:
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PROP1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for PROP1 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Prop11 , 5 paired like homeodomain factor 11, 5 79.07(n)1
    73.54(a)1
      11 (30.95 cM)5
    191271  NM_008936.11  NP_032962.11 
     509508065 
    lizard
    (Anolis carolinensis)
    Reptilia PROP16
    PROP paired-like homeobox 1
    40(a)
    1 ↔ 1
    GL343252.1(45411-52755)
    zebrafish
    (Danio rerio)
    Actinopterygii mxtx26
    mix-type homeobox gene 2
    17(a)
    many ↔ many
    12(30784435-30785976) ENSDARG00000015906
    fruit fly
    (Drosophila melanogaster)
    Insecta CG325326
    --
    9(a)
    1 ↔ 1
    X(19426045-19441515)
    worm
    (Caenorhabditis elegans)
    Secernentea unc-426
    Protein UNC-42, isoform b (unc-42) mRNA, complete ...
    22(a)
    1 ↔ 1
    V(9764645-9769361) WBGene00006778


    ENSEMBL Gene Tree for PROP1 (if available)
    TreeFam Gene Tree for PROP1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PROP1 gene
    GSC2  PITX12  OTX22  UNCX2  VSX12  HESX12  PITX22  VSX22  
    PITX32  DMBX12  GSC22  CRX2  MIXL12  OTX12  
    8 SIMAP similar genes for PROP1 using alignment to 1 protein entry:     PROP1_HUMAN:
    DUX1    PRRX1    NKX2-5    POU6F1    RAX2    SHOX2
    DUX2    HOXB1

    Find genes that share paralogs with PROP1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PROP1 (see all 180)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0037704
    Pituitary hormone deficiency, combined, 2 (CPHD2)4--see VAR_0037702 R C mis40--------
    VAR_0037694
    Pituitary hormone deficiency, combined, 2 (CPHD2)4--see VAR_0037692 F I mis40--------
    VAR_0037684
    Pituitary hormone deficiency, combined, 2 (CPHD2)4--see VAR_0037682 R C mis40--------
    VAR_0632364
    Pituitary hormone deficiency, combined, 2 (CPHD2)4--see VAR_0632362 R Q mis40--------
    VAR_0632354
    Pituitary hormone deficiency, combined, 2 (CPHD2)4--see VAR_0632352 F S mis40--------
    VAR_0127464
    Pituitary hormone deficiency, combined, 2 (CPHD2)4--see VAR_0127462 R H mis40--------
    VAR_0549734
    Pituitary hormone deficiency, combined, 2 (CPHD2)4--see VAR_0549732 R W mis40--------
    rs1219178451,2
    Cpathogenic1177643459(-) GACTGA/GTACCC 2 * W stg10--------
    rs1219178391,2
    Cpathogenic1177643683(-) AGAACC/TGCAGA 2 R C mis10--------
    rs1219178401,2
    Cpathogenic1177643692(-) TCTGGT/ATCCAG 2 /I /F mis11Minor allele frequency- A:0.00EU 1185

    HapMap Linkage Disequilibrium report for PROP1 (177419236 - 177423243 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for PROP1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv509105CNV Insertion20534489
    nsv883188CNV Gain21882294
    nsv883184CNV Gain21882294
    nsv883189CNV Gain21882294
    nsv883187CNV Gain21882294
    nsv883186CNV Gain21882294

    Human Gene Mutation Database (HGMD): PROP1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PROP1
    DNA2.0 Custom Variant and Variant Library Synthesis for PROP1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601538   
    OMIM disorders: 262600  
    UniProtKB/Swiss-Prot: PROP1_HUMAN, O75360
  • Pituitary hormone deficiency, combined, 2 (CPHD2) [MIM:262600]: Combined pituitary hormone deficiency is
    defined as the impaired production of growth hormone and one or more of the other five anterior pituitary
    hormones. CPHD2 is characterized by pleiotropic deficiencies of growth hormone, thyroid-stimulating hormone,
    follicle-stimulating hormone, luteinizing hormone, prolactin and adrenocorticotropic hormone. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • 13 diseases for PROP1:    
    About MalaCards
    prop1-related combined pituitary hormone deficiency    hypopituitarism    anosognosia    combined pituitary hormone deficiency
    hypothyroidism due to deficient transcription factors involved in pituitary development or function    pituitary hormone deficiency, combined 2    septo-optic dysplasia    panhypopituitarism
    craniopharyngioma    borjeson-forssman-lehmann syndrome    pituitary tumors    pituitary hypoplasia
    acth deficiency

    7 diseases from the University of Copenhagen DISEASES database for PROP1:
    Hypopituitarism     Pituitary hypoplasia     Hypogonadism     Holoprosencephaly
    Hypothyroidism     Klinefelter's syndrome     Anosognosia

    Find genes that share disorders with PROP1           About GenesLikeMe

    Selected Novoseek inferred disease relationships for PROP1 gene (see all 23)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    panhypopituitarism 97.1 71 11549674 (4), 12006708 (2), 12812307 (2), 10084575 (2) (see all 46)
    septo-optic dysplasia 92.2 4 18291347 (1), 10727999 (1), 15670191 (1), 17315526 (1)
    tsh deficiency 92 5 15941866 (1), 20381582 (1), 16735499 (1), 18174732 (1)
    hormone deficiency 90.7 18 11549703 (3), 17526936 (2), 9920061 (1), 10946868 (1) (see all 14)
    hypopituitarism 89.3 15 12717343 (2), 15963055 (2), 9920061 (1), 15472232 (1) (see all 13)
    acth deficiency 82.8 3 12780757 (1), 17162714 (1), 12717343 (1)
    growth hormone deficiency 75.1 4 17526936 (2), 17642419 (1), 12414875 (1)
    kallmann syndrome 73.1 2 10714361 (1), 12536356 (1)
    short stature 69.5 3 16909451 (1), 20181723 (1), 12519826 (1)
    dwarfism 66.9 7 15531542 (1), 10773688 (1), 19524124 (1), 16909451 (1) (see all 5)

    GeneTests: PROP1
    GeneReviews: PROP1
    Genetic Association Database (GAD): PROP1
    Human Genome Epidemiology (HuGE) Navigator: PROP1 (10 documents)

    Export disorders for PROP1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for PROP1 gene, integrated from 10 sources (see all 161):
    (articles sorted by number of sources associating them with PROP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in PROP1 cause familial combined pituitary hormone deficiency. (PubMed id 9462743)1, 2, 3, 9 Wu W.... Rosenfeld M.G. (Nat. Genet. 1998)
    2. Molecular analysis of novel PROP1 mutations associated with combined pituitary hormone deficiency (CPHD). (PubMed id 19128366)1, 2, 9 Kelberman D.... Dattani M.T. (Clin. Endocrinol. (Oxf.) 2009)
    3. High prevalence of PROP1 gene mutations in Hungarian patients with childhood-onset combined anterior pituitary hormone deficiency. (PubMed id 17526936)1, 4, 9 HalA!sz Z....RA!cz K. (Endocrine 2006)
    4. Combined pituitary hormone deficiency caused by a novel mutation of a highly conserved residue (F88S) in the homeodomain of PROP-1. (PubMed id 10946881)1, 2, 9 Osorio M.G....Arnhold I.J. (J. Clin. Endocrinol. Metab. 2000)
    5. Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD). (PubMed id 15963055)1, 4, 9 Turton J.P....Dattani M.T. (Clin. Endocrinol. (Oxf) 2005)
    6. Familial combined pituitary hormone deficiency due to a novel mutation R99Q in the hot spot region of Prophet of Pit-1 presenting as constitutional growth delay. (PubMed id 12519826)1, 2, 9 Vieira T.C.... Abucham J. (J. Clin. Endocrinol. Metab. 2003)
    7. PROP1 gene screening in patients with multiple pituitary hormone deficiency reveals two sites of hypermutability and a high incidence of corticotroph deficiency. (PubMed id 11549703)1, 2, 9 Vallette-Kasic S.... Brue T. (J. Clin. Endocrinol. Metab. 2001)
    8. Phenotypic variability in familial combined pituitary hormone deficiency caused by a PROP1 gene mutation resulting in the substitution of Arg-->Cys at codon 120 (R120C). (PubMed id 9768691)1, 2, 9 Fluck C....Mullis P.E. (J. Clin. Endocrinol. Metab. 1998)
    9. A familial form of congenital hypopituitarism due to a PROP1 mutation in a large kindred: phenotypic and in vitro functional studies. (PubMed id 15531542)1, 2, 9 Reynaud R.... Brue T. (J. Clin. Endocrinol. Metab. 2004)
    10. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Aliases
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 5626 HGNC: 9455 AceView: PROP1 Ensembl:ENSG00000175325 euGenes: HUgn5626
    ECgene: PROP1 H-InvDB: PROP1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PROP1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PROP1 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=PROP1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PROP1 gene:
    Search GeneIP for patents involving PROP1

    GeneCards and IP:
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