Ankyrins are membrane adaptor molecules that play important roles in coupling integral membrane proteins to the spectrin-based cytoskeleton network. Mutations of ankyrin genes lead to severe genetic diseases, such as fatal cardiac arrhythmias and hereditary spherocytosis. ANKRD47 an 168 amino acid coiled-coil protein that contains five ANK repeats and exists as two alternatively spliced isoforms. Conserved in chimpanzee, dog, cow, mouse and rat, ANKRD47 is expressed in breast, liver, lung, skeletal muscle and kidney. ANKRD47 assists in the formation of actin stress fibers and is encoded by a gene that maps to human chromosome 19p13.2. Chromosome 19 makes up over 2% of the human genome and contains approximately 63 million bases, which encode over 1,400 genes. Recognized for having the greatest gene density of all human chromosomes, chromosome 19 is linked to Peutz-Jeghers syndrome, spinocerebellar ataxia type 6, the stroke disorder CADASIL, hypercholesterolemia and insulin-dependent diabetes
Function:
May be involved in the control of cytoskeleton formation by regulating actin polymerization.
Tissue Specificity:
Strongly expressed in breast, liver, lung, skeletal muscle and kidney.
Similarity:
Contains 5 ANK repeats.
SWISS:
Q6NY19
Gene ID:
256949
Database links:
Entrez Gene: 256949 Human
Entrez Gene: 80176 Mouse
Entrez Gene: 366848 Rat
Omim: 614611 Human
SwissProt: Q6NY19 Human
SwissProt: Q9Z1P7 Mouse
Unigene: 322473 Human
Unigene: 196330 Mouse
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