PROP1: Difference between revisions

PROP1
Identifiers
Aliases	PROP1, CPHD2, PROP-1, PROP paired-like homeobox 1
External IDs	OMIM: 601538; MGI: 109330; HomoloGene: 4558; GeneCards: PROP1; OMA:PROP1 - orthologs
Gene location (Human)
Chr.	Chromosome 5 (human)
End	177,996,242 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	50,844,592 bp
RNA expression pattern
	Top expressed in
	Pituitary Gland; ; anterior pituitary;
	Top expressed in
	anterior pituitary; ; Rathke's pouch; ; embryo; ; pars distalis of adenohypophysis; ; blastocyst; ; lumbar spinal ganglion; ; digastric muscle; ; lumbar subsegment of spinal cord; ; carotid body; ; spleen;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	RNA polymerase II cis-regulatory region sequence-specific DNA binding; DNA binding; sequence-specific DNA binding; beta-catenin binding; chromatin binding; DNA-binding transcription repressor activity, RNA polymerase II-specific; protein C-terminus binding; DNA-binding transcription activator activity, RNA polymerase II-specific; protein binding; DNA-binding transcription factor activity, RNA polymerase II-specific;
Cellular component	transcription regulator complex; nucleus;
Biological process	regulation of transcription, DNA-templated; somatotropin secreting cell differentiation; hypothalamus cell differentiation; hypophysis morphogenesis; negative regulation of apoptotic process; negative regulation of transcription by RNA polymerase II; transcription by RNA polymerase II; adenohypophysis development; central nervous system development; blood vessel development; animal organ morphogenesis; canonical Wnt signaling pathway; dorsal/ventral pattern formation; cell migration; positive regulation of transcription by RNA polymerase II; gland development;
	Sources:Amigo / QuickGO
Orthologs
	5626
	19127
	ENSG00000280635; ENSG00000175325; ENSG00000274382
	ENSMUSG00000044542
	O75360
	P97458
	NM_006261
	NM_008936
	NP_006252
	NP_032962
	Wikidata
View/Edit Human	View/Edit Mouse

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Revision as of 15:54, 30 December 2020

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

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

^ ^a ^b ^c ENSG00000175325, ENSG00000274382 GRCh38: Ensembl release 89: ENSG00000280635, ENSG00000175325, ENSG00000274382 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000044542 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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. S2CID 6882625.
^ ^a ^b "Entrez Gene: PROP1 prophet of Pit1, paired-like homeodomain transcription factor".

Osorio MG, Kopp P, Marui S, et al. (2000). "Combined pituitary hormone deficiency caused by a novel mutation of a highly conserved residue (F88S) in the homeodomain of PROP-1". J. Clin. Endocrinol. Metab. 85 (8): 2779–85. doi:10.1210/jc.85.8.2779. PMID 10946881.
Dasen JS, Rosenfeld MG (2001). "Signaling and transcriptional mechanisms in pituitary development". Annu. Rev. Neurosci. 24 (1): 327–55. doi:10.1146/annurev.neuro.24.1.327. PMID 11283314. S2CID 19902876.
Mody S, Brown MR, Parks JS (2003). "The spectrum of hypopituitarism caused by PROP1 mutations". Best Pract. Res. Clin. Endocrinol. Metab. 16 (3): 421–31. doi:10.1053/beem.2002.0218. PMID 12464226.
Rodriguez R, Andersen B (2003). "Cellular determination in the anterior pituitary gland: PIT-1 and PROP-1 mutations as causes of human combined pituitary hormone deficiency". Minerva Endocrinol. 28 (2): 123–33. PMID 12717343.
Fofanova O, Takamura N, Kinoshita E, et al. (1998). "Compound heterozygous deletion of the PROP-1 gene in children with combined pituitary hormone deficiency". J. Clin. Endocrinol. Metab. 83 (7): 2601–4. doi:10.1210/jc.83.7.2601. PMID 9661653.
Amendt BA, Sutherland LB, Semina EV, Russo AF (1998). "The molecular basis of Rieger syndrome. Analysis of Pitx2 homeodomain protein activities". J. Biol. Chem. 273 (32): 20066–72. doi:10.1074/jbc.273.32.20066. PMID 9685346.
Cogan JD, Wu W, Phillips JA, et al. (1998). "The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency" (PDF). J. Clin. Endocrinol. Metab. 83 (9): 3346–9. doi:10.1210/jc.83.9.3346. hdl:10400.17/2282. PMID 9745452.
Flück C, Deladoey J, Rutishauser K, et al. (1998). "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)". J. Clin. Endocrinol. Metab. 83 (10): 3727–34. doi:10.1210/jc.83.10.3727. PMID 9768691.
Duquesnoy P, Roy A, Dastot F, et al. (1998). "Human Prop-1: cloning, mapping, genomic structure. Mutations in familial combined pituitary hormone deficiency". FEBS Lett. 437 (3): 216–20. doi:10.1016/S0014-5793(98)01234-4. PMID 9824293. S2CID 20169741.
Rosenbloom AL, Almonte AS, Brown MR, et al. (1999). "Clinical and biochemical phenotype of familial anterior hypopituitarism from mutation of the PROP1 gene". J. Clin. Endocrinol. Metab. 84 (1): 50–7. doi:10.1210/jc.84.1.50. PMID 9920061.
Mendonca BB, Osorio MG, Latronico AC, et al. (1999). "Longitudinal hormonal and pituitary imaging changes in two females with combined pituitary hormone deficiency due to deletion of A301,G302 in the PROP1 gene". J. Clin. Endocrinol. Metab. 84 (3): 942–5. doi:10.1210/jc.84.3.942. PMID 10084575.
Nakamura Y, Usui T, Mizuta H, et al. (1999). "Characterization of Prophet of Pit-1 gene expression in normal pituitary and pituitary adenomas in humans". J. Clin. Endocrinol. Metab. 84 (4): 1414–9. doi:10.1210/jc.84.4.1414. PMID 10199788.
Deladoëy J, Flück C, Büyükgebiz A, et al. (1999). ""Hot spot" in the PROP1 gene responsible for combined pituitary hormone deficiency". J. Clin. Endocrinol. Metab. 84 (5): 1645–50. doi:10.1210/jc.84.5.1645. PMID 10323394.
Agarwal G, Bhatia V, Cook S, Thomas PQ (2001). "Adrenocorticotropin deficiency in combined pituitary hormone deficiency patients homozygous for a novel PROP1 deletion". J. Clin. Endocrinol. Metab. 85 (12): 4556–61. doi:10.1210/jc.85.12.4556. PMID 11134108.
Vallette-Kasic S, Barlier A, Teinturier C, et al. (2001). "PROP1 gene screening in patients with multiple pituitary hormone deficiency reveals two sites of hypermutability and a high incidence of corticotroph deficiency". J. Clin. Endocrinol. Metab. 86 (9): 4529–35. doi:10.1210/jc.86.9.4529. PMID 11549703.
Teinturier C, Vallette S, Adamsbaum C, et al. (2002). "Pseudotumor of the pituitary due to PROP-1 deletion". J. Pediatr. Endocrinol. Metab. 15 (1): 95–101. doi:10.1515/jpem.2002.15.1.95. PMID 11822586. S2CID 9184549.
Crone J, Pfäffle R, Stobbe H, et al. (2002). "Familial combined pituitary hormone deficiency caused by PROP-1 gene mutation. Growth patterns and MRI studies in untreated subjects". Horm. Res. 57 (3–4): 120–6. doi:10.1159/000057962. PMID 12006708. S2CID 8619602.

External links

GeneReviews/NCBI/NIH/UW entry on PROP1- Related Combined Pituitary Hormone Deficiency (CPHD)
PROP1+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

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

This article on a gene on human chromosome 5 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] ENSG00000175325, ENSG00000274382 GRCh38: Ensembl release 89: ENSG00000280635, ENSG00000175325, ENSG00000274382 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid9462743-5] 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. S2CID 6882625.

[entrez-6] "Entrez Gene: PROP1 prophet of Pit1, paired-like homeodomain transcription factor".

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@@ Line 17: / Line 17: @@
 *{{cite journal   |vauthors=Cogan JD, Wu W, Phillips JA, etal |title=The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency. |journal=J. Clin. Endocrinol. Metab. |volume=83 |issue= 9 |pages= 3346–9 |year= 1998 |pmid= 9745452 |doi=10.1210/jc.83.9.3346  |hdl=10400.17/2282 |url=http://repositorio.chlc.min-saude.pt/bitstream/10400.17/2282/1/J%20Clin%20Endocr%20Metabol%201998_83_3346.pdf }}
 *{{cite journal   |vauthors=Flück C, Deladoey J, Rutishauser K, etal |title=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). |journal=J. Clin. Endocrinol. Metab. |volume=83 |issue= 10 |pages= 3727–34 |year= 1998 |pmid= 9768691 |doi=10.1210/jc.83.10.3727  }}
-*{{cite journal   |vauthors=Duquesnoy P, Roy A, Dastot F, etal |title=Human Prop-1: cloning, mapping, genomic structure. Mutations in familial combined pituitary hormone deficiency. |journal=FEBS Lett. |volume=437 |issue= 3 |pages= 216–20 |year= 1998 |pmid= 9824293 |doi=10.1016/S0014-5793(98)01234-4  |s2cid=20169741 }}
+*{{cite journal   |vauthors=Duquesnoy P, Roy A, Dastot F, etal |title=Human Prop-1: cloning, mapping, genomic structure. Mutations in familial combined pituitary hormone deficiency. |journal=FEBS Lett. |volume=437 |issue= 3 |pages= 216–20 |year= 1998 |pmid= 9824293 |doi=10.1016/S0014-5793(98)01234-4  |s2cid=20169741 |doi-access=free }}
 *{{cite journal   |vauthors=Rosenbloom AL, Almonte AS, Brown MR, etal |title=Clinical and biochemical phenotype of familial anterior hypopituitarism from mutation of the PROP1 gene. |journal=J. Clin. Endocrinol. Metab. |volume=84 |issue= 1 |pages= 50–7 |year= 1999 |pmid= 9920061 |doi=10.1210/jc.84.1.50  }}
 *{{cite journal   |vauthors=Mendonca BB, Osorio MG, Latronico AC, etal |title=Longitudinal hormonal and pituitary imaging changes in two females with combined pituitary hormone deficiency due to deletion of A301,G302 in the PROP1 gene. |journal=J. Clin. Endocrinol. Metab. |volume=84 |issue= 3 |pages= 942–5 |year= 1999 |pmid= 10084575 |doi=10.1210/jc.84.3.942  }}

Revision as of 15:54, 30 December 2020

References

Further reading

External links