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Aliases for PROP1 Gene

Aliases for PROP1 Gene

  • PROP Paired-Like Homeobox 1 2 3 5
  • Prophet Of Pit1, Paired-Like Homeodomain Transcription Factor 2 3
  • Pituitary-Specific Homeodomain Factor 3 4
  • PROP-1 3 4
  • CPHD2 3

External Ids for PROP1 Gene

Previous GeneCards Identifiers for PROP1 Gene

  • GC05M177574
  • GC05M178307
  • GC05M177487
  • GC05M177532
  • GC05M177351
  • GC05M172154
  • GC05M177419

Summaries for PROP1 Gene

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 pituitary hormone deficiency, combined, 2 and combined pituitary hormone deficiencies, genetic forms. GO annotations related to this gene include sequence-specific DNA binding and protein C-terminus binding. An important paralog of this gene is PITX3.

UniProtKB/Swiss-Prot for PROP1 Gene

  • Possibly involved in the ontogenesis of pituitary gonadotropes, as well as somatotropes, lactotropes and caudomedial thyrotropes.

Gene Wiki entry for PROP1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PROP1 Gene

Genomics for PROP1 Gene

Regulatory Elements for PROP1 Gene

Genomic Location for PROP1 Gene

Chromosome:
5
Start:
177,992,235 bp from pter
End:
177,996,242 bp from pter
Size:
4,008 bases
Orientation:
Minus strand

Genomic View for PROP1 Gene

Genes around PROP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PROP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PROP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PROP1 Gene

Proteins for PROP1 Gene

  • Protein details for PROP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75360-PROP1_HUMAN
    Recommended name:
    Homeobox protein prophet of Pit-1
    Protein Accession:
    O75360

    Protein attributes for PROP1 Gene

    Size:
    226 amino acids
    Molecular mass:
    24984 Da
    Quaternary structure:
    No Data Available

neXtProt entry for PROP1 Gene

Proteomics data for PROP1 Gene at MOPED

Post-translational modifications for PROP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PROP1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PROP1 Gene

Domains & Families for PROP1 Gene

Gene Families for PROP1 Gene

Suggested Antigen Peptide Sequences for PROP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O75360

UniProtKB/Swiss-Prot:

PROP1_HUMAN :
  • Contains 1 homeobox DNA-binding domain.
  • Belongs to the paired homeobox family.
Domain:
  • Contains 1 homeobox DNA-binding domain.
Family:
  • Belongs to the paired homeobox family.
genes like me logo Genes that share domains with PROP1: view

Function for PROP1 Gene

Molecular function for PROP1 Gene

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

Gene Ontology (GO) - Molecular Function for PROP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003682 chromatin binding IEA --
GO:0008022 protein C-terminus binding IEA --
GO:0043565 sequence-specific DNA binding IEA --
genes like me logo Genes that share ontologies with PROP1: view
genes like me logo Genes that share phenotypes with PROP1: view

Human Phenotype Ontology for PROP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PROP1 Gene

MGI Knock Outs for PROP1:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for PROP1 Gene

Localization for PROP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PROP1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PROP1 Gene COMPARTMENTS Subcellular localization image for PROP1 gene
Compartment Confidence
nucleus 5

No data available for Gene Ontology (GO) - Cellular Components for PROP1 Gene

Pathways & Interactions for PROP1 Gene

SuperPathways for PROP1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PROP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0001568 blood vessel development IEA --
GO:0007417 central nervous system development TAS 9462743
GO:0021984 adenohypophysis development IEA --
GO:0045944 positive regulation of transcription from RNA polymerase II promoter IEA --
genes like me logo Genes that share ontologies with PROP1: view

No data available for Pathways by source and SIGNOR curated interactions for PROP1 Gene

Drugs & Compounds for PROP1 Gene

(3) Drugs for PROP1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for PROP1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PROP1: view

Transcripts for PROP1 Gene

mRNA/cDNA for PROP1 Gene

(1) REFSEQ mRNAs :
(3) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for PROP1 Gene

No ASD Table

Relevant External Links for PROP1 Gene

GeneLoc Exon Structure for
PROP1
ECgene alternative splicing isoforms for
PROP1

Expression for PROP1 Gene

mRNA expression in normal human tissues for PROP1 Gene

mRNA differential expression in normal tissues according to GTEx for PROP1 Gene

This gene is overexpressed in Pituitary (x33.1) and Brain - Cerebellum (x5.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PROP1 Gene



SOURCE GeneReport for Unigene cluster for PROP1 Gene Hs.158301

mRNA Expression by UniProt/SwissProt for PROP1 Gene

O75360-PROP1_HUMAN
Tissue specificity: Expressed specifically in embryonic pituitary.
genes like me logo Genes that share expression patterns with PROP1: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues and Protein tissue co-expression partners for PROP1 Gene

Orthologs for PROP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PROP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PROP1 35
  • 98.53 (n)
  • 98.67 (a)
PROP1 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PROP1 36
  • 75 (a)
OneToOne
PROP1 35
  • 81.86 (n)
  • 74.78 (a)
dog
(Canis familiaris)
Mammalia PROP1 35
  • 84.07 (n)
  • 79.2 (a)
PROP1 36
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Prop1 16
Prop1 36
  • 74 (a)
OneToOne
Prop1 35
  • 79.07 (n)
  • 73.54 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 25 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 42 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Prop1 35
  • 78.18 (n)
  • 71.3 (a)
lizard
(Anolis carolinensis)
Reptilia PROP1 36
  • 40 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii mxtx2 36
  • 17 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG32532 36
  • 9 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea unc-42 36
  • 22 (a)
OneToOne
Species with no ortholog for PROP1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for PROP1 Gene

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

Paralogs for PROP1 Gene

Paralogs for PROP1 Gene

(8) SIMAP similar genes for PROP1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with PROP1: view

Variants for PROP1 Gene

Sequence variations from dbSNP and Humsavar for PROP1 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
VAR_003768 Pituitary hormone deficiency, combined, 2 (CPHD2)
VAR_003769 Pituitary hormone deficiency, combined, 2 (CPHD2)
VAR_003770 Pituitary hormone deficiency, combined, 2 (CPHD2)
VAR_012746 Pituitary hormone deficiency, combined, 2 (CPHD2)
rs1800197 - 177,992,966(-) CTGCC(A/G)CCTTT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for PROP1 Gene

Variant ID Type Subtype PubMed ID
nsv883184 CNV Gain 21882294
nsv509105 CNV Insertion 20534489
nsv883186 CNV Gain 21882294
nsv883187 CNV Gain 21882294
nsv883188 CNV Gain 21882294
nsv883189 CNV Gain 21882294

Variation tolerance for PROP1 Gene

Residual Variation Intolerance Score: 86% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.52; 11.36% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PROP1 Gene

HapMap Linkage Disequilibrium report
PROP1
Human Gene Mutation Database (HGMD)
PROP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PROP1 Gene

Disorders for PROP1 Gene

MalaCards: The human disease database

(16) MalaCards diseases for PROP1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

UniProtKB/Swiss-Prot

PROP1_HUMAN
  • 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. {ECO:0000269 PubMed:10946881, ECO:0000269 PubMed:11549703, ECO:0000269 PubMed:12519826, ECO:0000269 PubMed:15531542, ECO:0000269 PubMed:19128366, ECO:0000269 PubMed:9462743, ECO:0000269 PubMed:9768691}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PROP1

Genetic Association Database (GAD)
PROP1
Human Genome Epidemiology (HuGE) Navigator
PROP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PROP1
genes like me logo Genes that share disorders with PROP1: view

No data available for Genatlas for PROP1 Gene

Publications for PROP1 Gene

  1. Mutations in PROP1 cause familial combined pituitary hormone deficiency. (PMID: 9462743) Wu W. … Rosenfeld M.G. (Nat. Genet. 1998) 2 3 4 23 67
  2. W194XProp1 and S156insTProp1, both of which have intact DNA-binding domain, show a different DNA-binding activity to the Prop1-binding element in human Pit-1 gene. (PMID: 20381582) Shibahara H. … Okimura Y. (Mol. Cell. Endocrinol. 2010) 3 23
  3. Corepressors TLE1 and TLE3 interact with HESX1 and PROP1. (PMID: 20181723) Carvalho L.R. … Camper S.A. (Mol. Endocrinol. 2010) 3 23
  4. Molecular analysis of novel PROP1 mutations associated with combined pituitary hormone deficiency (CPHD). (PMID: 19128366) Kelberman D. … Dattani M.T. (Clin. Endocrinol. (Oxf.) 2009) 3 23
  5. Identification and analysis of prophet of Pit-1-binding sites in human Pit-1 gene. (PMID: 18653712) Ikeshita N. … Okimura Y. (Endocrinology 2008) 3 23

Products for PROP1 Gene

Sources for PROP1 Gene

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