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P16157 Proteins with ANK Repeats
Uniprot ID: P16157
Protein name : Ankyrin-1
Gene : ANK1 ANK
Protein Families :
Squence Length : 1881
Sequence
>P16157 1882 MPYSVGFREADAATSFLRAARSGNLDKALDHLRNGVDINTCNQNGLNGLHLASKEGHVKMVVELLHKEIILETTTKKGNTALHIAALAGQDEVVRELVNYGANVNAQSQKGFTPLYMAAQENHLEVVKFLLENGANQNVATEDGFTPLAVALQQGHENVVAHLINYGTKGKVRLPALHIAARNDDTRTAAVLLQNDPNPDVLSKTGFTPLHIAAHYENLNVAQLLLNRGASVNFTPQNGITPLHIASRRGNVIMVRLLLDRGAQIETKTKDELTPLHCAARNGHVRISEILLDHGAPIQAKTKNGLSPIHMAAQGDHLDCVRLLLQYDAEIDDITLDHLTPLHVAAHCGHHRVAKVLLDKGAKPNSRALNGFTPLHIACKKNHVRVMELLLKTGASIDAVTESGLTPLHVASFMGHLPIVKNLLQRGASPNVSNVKVETPLHMAARAGHTEVAKYLLQNKAKVNAKAKDDQTPLHCAARIGHTNMVKLLLENNANPNLATTAGHTPLHIAAREGHVETVLALLEKEASQACMTKKGFTPLHVAAKYGKVRVAELLLERDAHPNAAGKNGLTPLHVAVHHNNLDIVKLLLPRGGSPHSPAWNGYTPLHIAAKQNQVEVARSLLQYGGSANAESVQGVTPLHLAAQEGHAEMVALLLSKQANGNLGNKSGLTPLHLVAQEGHVPVADVLIKHGVMVDATTRMGYTPLHVASHYGNIKLVKFLLQHQADVNAKTKLGYSPLHQAAQQGHTDIVTLLLKNGASPNEVSSDGTTPLAIAKRLGYISVTDVLKVVTDETSFVLVSDKHRMSFPETVDEILDVSEDEGEELISFKAERRDSRDVDEEKELLDFVPKLDQVVESPAIPRIPCAMPETVVIRSEEQEQASKEYDEDSLIPSSPATETSDNISPVASPVHTGFLVSFMVDARGGSMRGSRHNGLRVVIPPRTCAAPTRITCRLVKPQKLSTPPPLAEEEGLASRIIALGPTGAQFLSPVIVEIPHFASHGRGDRELVVLRSENGSVWKEHRSRYGESYLDQILNGMDEELGSLEELEKKRVCRIITTDFPLYFVIMSRLCQDYDTIGPEGGSLKSKLVPLVQATFPENAVTKRVKLALQAQPVPDELVTKLLGNQATFSPIVTVEPRRRKFHRPIGLRIPLPPSWTDNPRDSGEGDTTSLRLLCSVIGGTDQAQWEDITGTTKLVYANECANFTTNVSARFWLSDCPRTAEAVNFATLLYKELTAVPYMAKFVIFAKMNDPREGRLRCYCMTDDKVDKTLEQHENFVEVARSRDIEVLEGMSLFAELSGNLVPVKKAAQQRSFHFQSFRENRLAMPVKVRDSSREPGGSLSFLRKAMKYEDTQHILCHLNITMPPCAKGSGAEDRRRTPTPLALRYSILSESTPGSLSGTEQAEMKMAVISEHLGLSWAELARELQFSVEDINRIRVENPNSLLEQSVALLNLWVIREGQNANMENLYTALQSIDRGEIVNMLEGSGRQSRNLKPDRRHTDRDYSLSPSQMNGYSSLQDELLSPASLGCALSSPLRADQYWNEVAVLDAIPLAATEHDTMLEMSDMQVWSAGLTPSLVTAEDSSLECSKAEDSDATGHEWKLEGALSEEPRGPELGSLELVEDDTVDSDATNGLIDLLEQEEGQRSEEKLPGSKRQDDATGAGQDSENEVSLVSGHQRGQARITHSPTVSQVTERSQDRLQDWDADGSIVSYLQDAAQGSWQEEVTQGPHSFQGTSTMTEGLEPGGSQEYEKVLVSVSEHTWTEQPEAESSQADRDRRQQGQEEQVQEAKNTFTQVVQGNEFQNIPGEQVTEEQFTDEQGNIVTKKIIRKVVRQIDLSSADAAQEHEEVTVEGPLEDPSELEVDIDYFMKHSKDHTSTPNP
Repeat regions
REPEAT 44 73 ANK 1 REPEAT 77 106 ANK 2 REPEAT 110 139 ANK 3 REPEAT 143 172 ANK 4 REPEAT 174 201 ANK 5 REPEAT 205 234 ANK 6 REPEAT 238 267 ANK 7 REPEAT 271 300 ANK 8 REPEAT 304 333 ANK 9 REPEAT 337 366 ANK 10 REPEAT 370 399 ANK 11 REPEAT 403 432 ANK 12 REPEAT 436 465 ANK 13 REPEAT 469 498 ANK 14 REPEAT 502 531 ANK 15 REPEAT 535 564 ANK 16 REPEAT 568 597 ANK 17 REPEAT 601 630 ANK 18 REPEAT 634 663 ANK 19 REPEAT 667 696 ANK 20 REPEAT 700 729 ANK 21 REPEAT 733 762 ANK 22 REPEAT 766 795 ANK 23
Sequence region of repeats
44- 73 LNGLHLASKEGHVKMVVELLHKEIILETTT 77- 106 NTALHIAALAGQDEVVRELVNYGANVNAQS 110- 139 FTPLYMAAQENHLEVVKFLLENGANQNVAT 143- 172 FTPLAVALQQGHENVVAHLINYGTKGKVRL 174- 201 ALHIAARNDDTRTAAVLLQNDPNPDVLS 205- 234 FTPLHIAAHYENLNVAQLLLNRGASVNFTP 238- 267 ITPLHIASRRGNVIMVRLLLDRGAQIETKT 271- 300 LTPLHCAARNGHVRISEILLDHGAPIQAKT 304- 333 LSPIHMAAQGDHLDCVRLLLQYDAEIDDIT 337- 366 LTPLHVAAHCGHHRVAKVLLDKGAKPNSRA 370- 399 FTPLHIACKKNHVRVMELLLKTGASIDAVT 403- 432 LTPLHVASFMGHLPIVKNLLQRGASPNVSN 436- 465 ETPLHMAARAGHTEVAKYLLQNKAKVNAKA 469- 498 QTPLHCAARIGHTNMVKLLLENNANPNLAT 502- 531 HTPLHIAAREGHVETVLALLEKEASQACMT 535- 564 FTPLHVAAKYGKVRVAELLLERDAHPNAAG 568- 597 LTPLHVAVHHNNLDIVKLLLPRGGSPHSPA 601- 630 YTPLHIAAKQNQVEVARSLLQYGGSANAES 634- 663 VTPLHLAAQEGHAEMVALLLSKQANGNLGN 667- 696 LTPLHLVAQEGHVPVADVLIKHGVMVDATT 700- 729 YTPLHVASHYGNIKLVKFLLQHQADVNAKT 733- 762 YSPLHQAAQQGHTDIVTLLLKNGASPNEVS 766- 795 TTPLAIAKRLGYISVTDVLKVVTDETSFVL
Domains
DOMAIN 913 1068 ZU5 1. DOMAIN 1070 1216 ZU5 2. DOMAIN 1403 1487 Death
Function
"Attaches integral membrane proteins to cytoskeletal elements; binds to the erythrocyte membrane protein band 4.2, to Na-K ATPase, to the lymphocyte membrane protein GP85, and to the cytoskeletal proteins fodrin, tubulin, vimentin and desmin. Erythrocyte ankyrins also link spectrin (beta chain) to the cytoplasmic domain of the erythrocytes anion exchange protein; they retain most or all of these binding functions.; Isoform Mu17 together with obscurin in skeletal muscle may provide a molecular link between the sarcoplasmic reticulum and myofibrils"
Mutation
1824 1824 T->P: Abolishes interaction with OBSCN (in isoform Mu17) 1826 1826 K->E: Abolishes interaction with OBSCN (in isoform Mu17) 1829 1829 R->G: Abolishes interaction with OBSCN (in isoform Mu17) 1830 1830 K->E: Abolishes interaction with OBSCN (in isoform Mu17)
Disease
"DISEASE: Spherocytosis 1 (SPH1) [MIM:182900]: A form of spherocytosis, a hematologic disorder leading to chronic hemolytic anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal SPH1 is characterized by severe hemolytic anemia Inheritance can be autosomal dominant or autosomal recessive Patients with homozygous mutations have a more severe disorder Note=The disease is caused by mutations affecting the gene represented in this entry"