Description: Homo sapiens POU class 1 homeobox 1 (POU1F1), transcript variant beta, mRNA. RefSeq Summary (NM_001122757): This gene encodes a member of the POU family of transcription factors that regulate mammalian development. The protein regulates expression of several genes involved in pituitary development and hormone expression. Mutations in this genes result in combined pituitary hormone deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. Transcript (Including UTRs) Position: hg19 chr3:87,308,783-87,325,737 Size: 16,955 Total Exon Count: 6 Strand: - Coding Region Position: hg19 chr3:87,309,044-87,325,612 Size: 16,569 Coding Exon Count: 6
combined pituitary hormone deficiency Turton, J. P. et al. 2005, Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency., The Journal of clinical endocrinology and metabolism. 2005 Aug;90(8):4762-70.
[PubMed 15928241]
Our data suggest that the phenotype associated with POU1F1 mutations may be more variable, with the occasional preservation of TSH secretion. Additionally, our data revealed POU1F1 mutations in three patients who were diagnosed as having ACTH deficiency but who, on further evaluation, were found to have normal cortisol secretion. Hence, elucidation of the genotype led to further evaluation of the phenotype, with the cessation of cortisol replacement that had been commenced unnecessarily. These data reflect the importance of mutational analysis in patients with CPHD.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Protein Domain and Structure Information
Pfam Domains: PF00046 - Homeobox domain PF00157 - Pou domain - N-terminal to homeobox domain
ModBase Predicted Comparative 3D Structure on P28069-2
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.