| Tbio | Ankyrin-1 |
Isoform Mu17 together with obscurin in skeletal muscle may provide a molecular link between the sarcoplasmic reticulum and myofibrils.
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]
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]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Bone Diseases, Developmental | 27 | 0.0 | 0.0 |
| Spherocytosis, Type 1 | 1 | 0.0 | 0.0 |
| Disease | Target Count | P-value |
|---|---|---|
| ependymoma | 4679 | 5.1e-12 |
| glioblastoma | 5792 | 8.5e-08 |
| osteosarcoma | 7950 | 1.4e-07 |
| acute quadriplegic myopathy | 1158 | 5.3e-06 |
| Astrocytoma, Pilocytic | 3081 | 1.3e-04 |
| atypical teratoid / rhabdoid tumor | 5112 | 1.9e-04 |
| cystic fibrosis | 1696 | 2.6e-04 |
| adult high grade glioma | 3801 | 4.7e-03 |
| subependymal giant cell astrocytoma | 2287 | 7.3e-03 |
| group 4 medulloblastoma | 1855 | 9.7e-03 |
| primitive neuroectodermal tumor | 3035 | 1.6e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Hereditary elliptocytosis | 22 | 4.299 | 2.1 |
| Congenital hemolytic anemia | 32 | 0.0 | 4.0 |
| Disease | Target Count |
|---|---|
| 8p11.2 deletion syndrome | 1 |
| Hereditary spherocytosis | 16 |
| Disease | log2 FC | p |
|---|---|---|
| acute quadriplegic myopathy | -1.134 | 5.3e-06 |
| adult high grade glioma | -1.600 | 4.7e-03 |
| Astrocytoma, Pilocytic | -1.600 | 1.3e-04 |
| atypical teratoid / rhabdoid tumor | -1.300 | 1.9e-04 |
| cystic fibrosis | -1.590 | 2.6e-04 |
| ependymoma | -2.100 | 5.1e-12 |
| glioblastoma | -1.800 | 8.5e-08 |
| group 4 medulloblastoma | -1.100 | 9.7e-03 |
| osteosarcoma | -5.166 | 1.4e-07 |
| primitive neuroectodermal tumor | -1.200 | 1.6e-02 |
| subependymal giant cell astrocytoma | -2.142 | 7.3e-03 |
MPYSVGFREADAATSFLRAARSGNLDKALDHLRNGVDINTCNQNGLNGLHLASKEGHVKMVVELLHKEII 1 - 70 LETTTKKGNTALHIAALAGQDEVVRELVNYGANVNAQSQKGFTPLYMAAQENHLEVVKFLLENGANQNVA 71 - 140 TEDGFTPLAVALQQGHENVVAHLINYGTKGKVRLPALHIAARNDDTRTAAVLLQNDPNPDVLSKTGFTPL 141 - 210 HIAAHYENLNVAQLLLNRGASVNFTPQNGITPLHIASRRGNVIMVRLLLDRGAQIETKTKDELTPLHCAA 211 - 280 RNGHVRISEILLDHGAPIQAKTKNGLSPIHMAAQGDHLDCVRLLLQYDAEIDDITLDHLTPLHVAAHCGH 281 - 350 HRVAKVLLDKGAKPNSRALNGFTPLHIACKKNHVRVMELLLKTGASIDAVTESGLTPLHVASFMGHLPIV 351 - 420 KNLLQRGASPNVSNVKVETPLHMAARAGHTEVAKYLLQNKAKVNAKAKDDQTPLHCAARIGHTNMVKLLL 421 - 490 ENNANPNLATTAGHTPLHIAAREGHVETVLALLEKEASQACMTKKGFTPLHVAAKYGKVRVAELLLERDA 491 - 560 HPNAAGKNGLTPLHVAVHHNNLDIVKLLLPRGGSPHSPAWNGYTPLHIAAKQNQVEVARSLLQYGGSANA 561 - 630 ESVQGVTPLHLAAQEGHAEMVALLLSKQANGNLGNKSGLTPLHLVAQEGHVPVADVLIKHGVMVDATTRM 631 - 700 GYTPLHVASHYGNIKLVKFLLQHQADVNAKTKLGYSPLHQAAQQGHTDIVTLLLKNGASPNEVSSDGTTP 701 - 770 LAIAKRLGYISVTDVLKVVTDETSFVLVSDKHRMSFPETVDEILDVSEDEGEELISFKAERRDSRDVDEE 771 - 840 KELLDFVPKLDQVVESPAIPRIPCAMPETVVIRSEEQEQASKEYDEDSLIPSSPATETSDNISPVASPVH 841 - 910 TGFLVSFMVDARGGSMRGSRHNGLRVVIPPRTCAAPTRITCRLVKPQKLSTPPPLAEEEGLASRIIALGP 911 - 980 TGAQFLSPVIVEIPHFASHGRGDRELVVLRSENGSVWKEHRSRYGESYLDQILNGMDEELGSLEELEKKR 981 - 1050 VCRIITTDFPLYFVIMSRLCQDYDTIGPEGGSLKSKLVPLVQATFPENAVTKRVKLALQAQPVPDELVTK 1051 - 1120 LLGNQATFSPIVTVEPRRRKFHRPIGLRIPLPPSWTDNPRDSGEGDTTSLRLLCSVIGGTDQAQWEDITG 1121 - 1190 TTKLVYANECANFTTNVSARFWLSDCPRTAEAVNFATLLYKELTAVPYMAKFVIFAKMNDPREGRLRCYC 1191 - 1260 MTDDKVDKTLEQHENFVEVARSRDIEVLEGMSLFAELSGNLVPVKKAAQQRSFHFQSFRENRLAMPVKVR 1261 - 1330 DSSREPGGSLSFLRKAMKYEDTQHILCHLNITMPPCAKGSGAEDRRRTPTPLALRYSILSESTPGSLSGT 1331 - 1400 EQAEMKMAVISEHLGLSWAELARELQFSVEDINRIRVENPNSLLEQSVALLNLWVIREGQNANMENLYTA 1401 - 1470 LQSIDRGEIVNMLEGSGRQSRNLKPDRRHTDRDYSLSPSQMNGYSSLQDELLSPASLGCALSSPLRADQY 1471 - 1540 WNEVAVLDAIPLAATEHDTMLEMSDMQVWSAGLTPSLVTAEDSSLECSKAEDSDATGHEWKLEGALSEEP 1541 - 1610 RGPELGSLELVEDDTVDSDATNGLIDLLEQEEGQRSEEKLPGSKRQDDATGAGQDSENEVSLVSGHQRGQ 1611 - 1680 ARITHSPTVSQVTERSQDRLQDWDADGSIVSYLQDAAQGSWQEEVTQGPHSFQGTSTMTEGLEPGGSQEY 1681 - 1750 EKVLVSVSEHTWTEQPEAESSQADRDRRQQGQEEQVQEAKNTFTQVVQGNEFQNIPGEQVTEEQFTDEQG 1751 - 1820 NIVTKKIIRKVVRQIDLSSADAAQEHEEVTVEGPLEDPSELEVDIDYFMKHSKDHTSTPNP 1821 - 1881 //
