PROP1

Homeobox protein prophet of PIT-1 is a protein that in humans is encoded by the PROP1 gene.[5][6]

PROP1
Identifiers
AliasesPROP1, CPHD2, PROP-1, PROP paired-like homeobox 1
External IDsOMIM: 601538 MGI: 109330 HomoloGene: 4558 GeneCards: PROP1
Gene location (Human)
Chr.Chromosome 5 (human)[1]
Band5q35.3Start177,992,235 bp[1]
End177,996,242 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

5626

19127

Ensembl

ENSG00000280635
ENSG00000175325
ENSG00000274382

ENSMUSG00000044542

UniProt

O75360

P97458

RefSeq (mRNA)

NM_006261

NM_008936

RefSeq (protein)

NP_006252

NP_032962

Location (UCSC)Chr 5: 177.99 – 178 MbChr 11: 50.95 – 50.95 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

PROP1 has both DNA-binding and transcriptional activation ability. Its expression leads to ontogenesis of pituitary gonadotropes, as well as somatotropes, lactotropes, and caudomedial thyrotropes. Inactivating mutations in PROP1 result in deficiencies of luteinizing hormone (LH; MIM 152780), follicle-stimulating hormone (FSH; MIM 136530), growth hormone (GH; MIM 139250), prolactin (PRL; MIM 176760), and thyroid-stimulating hormone (TSH; MIM 188540). See combined pituitary hormone deficiency (CPHD; MIM 262600).[supplied by OMIM][6]

References

  1. ENSG00000175325, ENSG00000274382 GRCh38: Ensembl release 89: ENSG00000280635, ENSG00000175325, ENSG00000274382 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000044542 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Wu W, Cogan JD, Pfaffle RW, Dasen JS, Frisch H, O'Connell SM, Flynn SE, Brown MR, Mullis PE, Parks JS, Phillips JA III, Rosenfeld MG (Feb 1998). "Mutations in PROP1 cause familial combined pituitary hormone deficiency". Nat Genet. 18 (2): 147–9. doi:10.1038/ng0298-147. PMID 9462743.
  6. "Entrez Gene: PROP1 prophet of Pit1, paired-like homeodomain transcription factor".

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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