Human Gene NKX2-1 (uc001wtu.3) Description and Page Index
Description: Homo sapiens NK2 homeobox 1 (NKX2-1), transcript variant 1, mRNA. RefSeq Summary (NM_001079668): This gene encodes a protein initially identified as a thyroid-specific transcription factor. The encoded protein binds to the thyroglobulin promoter and regulates the expression of thyroid-specific genes but has also been shown to regulate the expression of genes involved in morphogenesis. Mutations and deletions in this gene are associated with benign hereditary chorea, choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress, and may be associated with thyroid cancer. Multiple transcript variants encoding different isoforms have been found for this gene. This gene shares the symbol/alias 'TTF1' with another gene, transcription termination factor 1, which plays a role in ribosomal gene transcription. [provided by RefSeq, Feb 2014]. Transcript (Including UTRs) Position: hg19 chr14:36,985,604-36,989,430 Size: 3,827 Total Exon Count: 3 Strand: - Coding Region Position: hg19 chr14:36,986,483-36,989,334 Size: 2,852 Coding Exon Count: 3
Body Height Guillaume Lettre et al. Nature genetics 2008, Identification of ten loci associated with height highlights new biological pathways in human growth., Nature genetics.
height Lettre ,et al. 2008, Identification of ten loci associated with height highlights new biological pathways in human growth, Nature genetics 2008 40- 5 : 584-91.
Menarch|Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious He C et al. 2010, A large-scale candidate gene association study of age at menarche and age at natural menopause., Human genetics 128(5) : 515-27 2010.
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.
ModBase Predicted Comparative 3D Structure on P43699-3
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
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.