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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PROP1 Gene

protein-coding   GIFtS: 56
GCID: GC05M177419

PROP paired-like homeobox 1

(Previous names: prophet of Pit1, paired-like homeodomain transcription...)
 Explore 26 diseases affiliated with
PROP1 via our new
 Human Malady Compendium 
Biological research products
for PROP1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PROP1:
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)

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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.1  NT_023133.13  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for PROP1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: PROP1_HUMAN, O75360 (See protein sequence)
Recommended Name: Homeobox protein prophet of Pit-1  
Size: 226 amino acids; 24984 Da
Subcellular location: Nucleus (By similarity)

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O75360

  • PROP1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_006252.3  
    ENSEMBL proteins: 
     ENSP00000311290  

    Human Recombinant Protein Products: 
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    Uscn Proteins for PROP1

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

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


    PROP1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for PROP1


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    PROP1 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR000047 HTH_motif
     IPR017970 Homeobox_CS
     IPR001356 Homeodomain
     IPR009057 Homeodomain-like

    Graphical View of Domain Structure for InterPro Entry O75360

    ProtoNet protein and cluster: O75360

    1 Blocks protein family: 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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: 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

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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PROP1
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    SwitchGear 3'UTR luciferase reporter plasmidPROP1 3' UTR sequence
    Inhib. RNA
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    OriGene shRNA RFP: PROP1
    OriGene siRNA: PROP1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PROP1

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PROP1

    Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000976transcription regulatory region sequence-specific DNA binding IEA--
    GO:0003682chromatin binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0005515protein binding ----
    GO:0008013beta-catenin binding IEA--


    PROP1 for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-outs for PROP1: Prop1tm1Sac Prop1tm1Rsd
         9 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Prop1):
     behavior/neurological  cellular  endocrine/exocrine gland  growth/size  homeostasis/metabolism 
     mortality/aging  nervous system  reproductive system  respiratory system 

    PROP1 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PROP1

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    5/6 Interacting proteins for PROP1 (O753603 ENSP000003112904) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PITX2Q996973, ENSP000003041694I2D: score=1 STRING: ENSP00000304169
    CTNNB1P352223, ENSP000003444564I2D: score=3 STRING: ENSP00000344456
    HESX1Q9UBX03, ENSP000002959344I2D: score=1 STRING: ENSP00000295934
    CBY1Q9Y3M23I2D: score=1 
    CTNNBIP1Q9NSA33I2D: score=1 
    About this table

    Gene Ontology (GO): 5/14 biological process terms (GO ID links to tree view) (see all 14):    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:0007417central nervous system development TAS9462743
    GO:0009887organ morphogenesis ----
    GO:0009953dorsal/ventral pattern formation IEA--


    PROP1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PROP1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PROP1
    5 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about PROP1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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)

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    Inhib. RNA
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    OriGene shRNA RFP: PROP1
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    Clone
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    Primer
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    Browse OriGene validated miRNA SYBR primer pairs
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PROP1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PROP1

    Additional cDNA sequence: 

    AF076215.1 BC069076.1 

    1 DOTS entry:

    DT.92030461 

    3 AceView cDNA sequences:

    NM_006261 BC069076 AF076215 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PROP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GTGAATTCTC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See PROP1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PROP1

    SOURCE GeneReport for Unigene cluster: Hs.158301

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

        SABiosciences Expression via Pathway-Focused PCR Arrays including PROP1: 
              Apoptosis 384HT in human mouse rat
              Homeobox (HOX) Genes in human mouse rat

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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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for PROP1 gene from 5/14 species (see all 14)    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
    --
    33(a)
    1 ↔ 1
    GL343252.1(46072-49074)
    zebrafish
    (Danio rerio)
    Actinopterygii prop11 PROP paired-like homeobox 1 51.16(n)
    49.2(a)
      100001377  NM_001177461.2  NP_001170932.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG325326
    --
    7(a)
    1 ↔ 1
    X(19426045-19441515)
    worm
    (Caenorhabditis elegans)
    Secernentea ceh-536
    unc-426
    UNCoordinated family member (unc-42)
    21(a)
    16(a)
    possible ortholog
    1 ↔ 1
    IV(3502136-3503909)
    V(9764621-9769337)


    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)
    About This Section
    Paralogs for PROP1 gene
    GSC2  OTX22  HESX12  ARGFX2  DMBX12  GSC22  SEBOX2  MIXL12  
    OTX12  CRX2  
    8 SIMAP similar genes for PROP1 using alignment to 1 protein entry:     PROP1_HUMAN:
    DUX1    PRRX1    NKX2-5    POU6F1    SHOX2    DUX2
    HOXB1    RAX2

    PROP1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/124 NCBI SNPs in PROP1 are shown (see all 124    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219178451,2
    Cpathogenic172154886(-) GACTGA/GTACCC 2 * W stg10--------
    rs1219178391,2
    Cpathogenic172155110(-) AGAACC/TGCAGA 2 R C mis10--------
    rs1219178441,2
    Cpathogenic172156231(-) GGGCCC/TGAGAG 2 R * stg10--------
    rs1219178411,2
    Cpathogenic172156263(-) AGCCTC/TTGGGA 2 S F mis10--------
    rs1219178421,2
    Cpathogenic172156308(-) CCACCA/GCACCA 2 H R mis10--------
    rs1219178431,2
    Cpathogenic172156309(-) GCCACC/TGCACC 2 R C mis10--------
    rs22337841,2
    C,F,probable-non-pathogenic172156352(-) TCCCCG/ACAAGG 2 /P syn1 ese32Minor allele frequency- A:0.04WA NA 4240
    rs1400161781,2
    C,probable-pathogenic172157966(+) GACTCA/C/GCCCCT 3 R G * mis1 stg11NA 4548
    rs22337881,2
    C,F,A,H,--172154664(-) AGCGAT/CTAGAA 1 -- ut31 ese315Minor allele frequency- C:0.06NS EA NA 1870
    rs776268991,2
    F,--172154667(+) TAATCG/ACTGAG 1 -- ut311Minor allele frequency- A:0.03WA 118

    HapMap Linkage Disequilibrium report for PROP1 (177419236 - 177423243 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for PROP1
         2 CNVs: 93380 81145
    Human Gene Mutation Database (HGMD): PROP1

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    (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.)
    About This Section

    PROP1 for disorders           About GeneDecksing

    OMIM gene information: 601538   
    OMIM disorders: 262600  
    UniProtKB/Swiss-Prot: PROP1_HUMAN, O75360
  • 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

    20/26 diseases for PROP1 (see all 26):    About MalaCards
    combined pituitary hormone deficiency    pituitary hormone deficiency    borjeson-forssman-lehmann syndrome    pituitary hormone deficiency, combined 2
    growth hormone deficiency    acth deficiency    short stature    thyroiditis
    neonatal thyrotoxicosis    delayed puberty    kallmann syndrome    panhypopituitarism
    pituitary adenoma    hypopituitarism    pituitary hypoplasia    craniopharyngioma
    dwarfism    pituitary tumor    klinefelter's syndrome    hypogonadism

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

    10/23 Novoseek 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
    PROP1-Related Combined Pituitary Hormone Deficiency

    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 9 sources (see all 155):
    (articles sorted by number of sources associating them with PROP1)
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    1. Mutations in PROP1 cause familial combined pituitary hormone deficiency. (PubMed id 9462743)1, 2, 3, 9 Wu W.... Rosenfeld M.G. (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. (2009)
    3. 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. (2000)
    4. 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. (2005)
    5. 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. (2003)
    6. 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. (2001)
    7. 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. (1998)
    8. 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. (2004)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    10. Human Prop-1: cloning, mapping, genomic structure. Mutations in familial combined pituitary hormone deficiency. (PubMed id 9824293)1, 2 Duquesnoy P.... Amselem S. (1998)

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

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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/sites/GeneTests/lab/gene/PROP1

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    Patent Information for PROP1 gene:
    Search GeneIP for patents involving PROP1

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