Human Gene ANK1 (uc003xoh.3) Description and Page Index
Description: Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 3, mRNA. RefSeq Summary (NM_020477): Ankyrins are a family of proteins that link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact and the maintenance of specialized membrane domains. Multiple isoforms of ankyrin with different affinities for various target proteins are expressed in a tissue-specific, developmentally regulated manner. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. Ankyrin 1, the prototype of this family, was first discovered in the erythrocytes, but since has also been found in brain and muscles. Mutations in erythrocytic ankyrin 1 have been associated in approximately half of all patients with hereditary spherocytosis. Complex patterns of alternative splicing in the regulatory domain, giving rise to different isoforms of ankyrin 1 have been described. Truncated muscle-specific isoforms of ankyrin 1 resulting from usage of an alternate promoter have also been identified. [provided by RefSeq, Dec 2008]. Transcript (Including UTRs) Position: hg19 chr8:41,510,744-41,563,759 Size: 53,016 Total Exon Count: 27 Strand: - Coding Region Position: hg19 chr8:41,518,984-41,563,681 Size: 44,698 Coding Exon Count: 26
Asthma Medea Imboden et al. The Journal of allergy and clinical immunology 2012, Genome-wide association study of lung function decline in adults with and without asthma., The Journal of allergy and clinical immunology.
Genetic heterogeneity of lung function might be extensive. Our results suggest that genetic determinants of longitudinal and cross-sectional lung function differ and vary by asthma status.
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.
SCOP Domains: 47986 - DEATH domain 48403 - Ankyrin repeat
ModBase Predicted Comparative 3D Structure on B3KX39
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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.