ANK1
entrez
286
canonical
uniprot
P16157
canonical
ensembl
ENSG00000029534
resolver
ensp
ENSP00000265709
resolver
ensp
ENSP00000289734
resolver
ensp
ENSP00000297744
resolver
ensp
ENSP00000319123
resolver
ensp
ENSP00000339620
resolver
ensp
ENSP00000430368
resolver
genesymbol
ANK1
resolver
genesymbol_syn
ANK
resolver
hgnc
HGNC:492
resolver
uniprot
A0PJN8
resolver
uniprot
A6NJ23
resolver
uniprot
B3KX39
resolver
uniprot
E5RFL7
resolver
uniprot
O43400
resolver
uniprot
Q13768
resolver
uniprot
Q53ER1
resolver
uniprot
Q59FP2
resolver
uniprot
Q8N604
resolver
uniprot
Q99407
resolver
uniprot_entry
ANK1_HUMAN
resolver
uniprot_entry
B3KX39_HUMAN
resolver
uniprot_sec
A0PJN8
resolver
uniprot_sec
A6NJ23
resolver
uniprot_sec
E5RFL7
resolver
uniprot_sec
O43400
resolver
uniprot_sec
Q13768
resolver
uniprot_sec
Q53ER1
resolver
uniprot_sec
Q59FP2
resolver
uniprot_sec
Q8N604
resolver
uniprot_sec
Q99407
resolver
amino_acid_sequence
MPYSVGFREADAATSFLRAARSGNLDKALDHLRNGVDINTCNQNGLNGLHLASKEGHVKMVVELLHKEIILETTTKKGNTALHIAALAGQDEVVRELVNYGANVNAQSQKGFTPLYMAAQENHLEVVKFLLENGANQNVATEDGFTPLAVALQQGHENVVAHLINYGTKGKVRLPALHIAARNDDTRTAAVLLQNDPNPDVLSKTGFTPLHIAAHYENLNVAQLLLNRGASVNFTPQNGITPLHIASRRGNVIMVRLLLDRGAQIETKTKDELTPLHCAARNGHVRISEILLDHGAPIQAKTKNGLSPIHMAAQGDHLDCVRLLLQYDAEIDDITLDHLTPLHVAAHCGHHRVAKVLLDKGAKPNSRALNGFTPLHIACKKNHVRVMELLLKTGASIDAVTESGLTPLHVASFMGHLPIVKNLLQRGASPNVSNVKVETPLHMAARAGHTEVAKYLLQNKAKVNAKAKDDQTPLHCAARIGHTNMVKLLLENNANPNLATTAGHTPLHIAAREGHVETVLALLEKEASQACMTKKGFTPLHVAAKYGKVRVAELLLERDAHPNAAGKNGLTPLHVAVHHNNLDIVKLLLPRGGSPHSPAWNGYTPLHIAAKQNQVEVARSLLQYGGSANAESVQGVTPLHLAAQEGHAEMVALLLSKQANGNLGNKSGLTPLHLVAQEGHVPVADVLIKHGVMVDATTRMGYTPLHVASHYGNIKLVKFLLQHQADVNAKTKLGYSPLHQAAQQGHTDIVTLLLKNGASPNEVSSDGTTPLAIAKRLGYISVTDVLKVVTDETSFVLVSDKHRMSFPETVDEILDVSEDEGEELISFKAERRDSRDVDEEKELLDFVPKLDQVVESPAIPRIPCAMPETVVIRSEEQEQASKEYDEDSLIPSSPATETSDNISPVASPVHTGFLVSFMVDARGGSMRGSRHNGLRVVIPPRTCAAPTRITCRLVKPQKLSTPPPLAEEEGLASRIIALGPTGAQFLSPVIVEIPHFASHGRGDRELVVLRSENGSVWKEHRSRYGESYLDQILNGMDEELGSLEELEKKRVCRIITTDFPLYFVIMSRLCQDYDTIGPEGGSLKSKLVPLVQATFPENAVTKRVKLALQAQPVPDELVTKLLGNQATFSPIVTVEPRRRKFHRPIGLRIPLPPSWTDNPRDSGEGDTTSLRLLCSVIGGTDQAQWEDITGTTKLVYANECANFTTNVSARFWLSDCPRTAEAVNFATLLYKELTAVPYMAKFVIFAKMNDPREGRLRCYCMTDDKVDKTLEQHENFVEVARSRDIEVLEGMSLFAELSGNLVPVKKAAQQRSFHFQSFRENRLAMPVKVRDSSREPGGSLSFLRKAMKYEDTQHILCHLNITMPPCAKGSGAEDRRRTPTPLALRYSILSESTPGSLSGTEQAEMKMAVISEHLGLSWAELARELQFSVEDINRIRVENPNSLLEQSVALLNLWVIREGQNANMENLYTALQSIDRGEIVNMLEGSGRQSRNLKPDRRHTDRDYSLSPSQMNGYSSLQDELLSPASLGCALSSPLRADQYWNEVAVLDAIPLAATEHDTMLEMSDMQVWSAGLTPSLVTAEDSSLECSKAEDSDATGHEWKLEGALSEEPRGPELGSLELVEDDTVDSDATNGLIDLLEQEEGQRSEEKLPGSKRQDDATGAGQDSENEVSLVSGHQRGQARITHSPTVSQVTERSQDRLQDWDADGSIVSYLQDAAQGSWQEEVTQGPHSFQGTSTMTEGLEPGGSQEYEKVLVSVSEHTWTEQPEAESSQADRDRRQQGQEEQVQEAKNTFTQVVQGNEFQNIPGEQVTEEQFTDEQGNIVTKKIIRKVVRQIDLSSADAAQEHEEVTVEGPLEDPSELEVDIDYFMKHSKDHTSTPNP
uniprot
proteins
disease_involvement
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. {ECO:0000269|PubMed:11102985, ECO:0000269|PubMed:8640229}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of the ankyrin-1 complex, a multiprotein complex involved in the stability and shape of the erythrocyte membrane (PubMed:35835865). 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. {ECO:0000269|PubMed:12456646, ECO:0000269|PubMed:35835865}.; FUNCTION: [Isoform Mu17]: Together with obscurin in skeletal muscle may provide a molecular link between the sarcoplasmic reticulum and myofibrils. {ECO:0000269|PubMed:12527750}.
uniprot
proteins
mass_dalton
206265
uniprot
proteins
mutagenesis
MUTAGEN 1824; /note="T->P: Abolishes interaction with OBSCN (in isoform Mu17)."; /evidence="ECO:0000269|PubMed:12527750"; MUTAGEN 1826; /note="K->E: Abolishes interaction with OBSCN (in isoform Mu17)."; /evidence="ECO:0000269|PubMed:12527750"; MUTAGEN 1829; /note="R->G: Abolishes interaction with OBSCN (in isoform Mu17)."; /evidence="ECO:0000269|PubMed:12527750"; MUTAGEN 1830; /note="K->E: Abolishes interaction with OBSCN (in isoform Mu17)."; /evidence="ECO:0000269|PubMed:12527750
uniprot
proteins
post_translational_modification
PTM: Regulated by phosphorylation.; PTM: Palmitoylated.; PTM: Hydroxylated by HIF1AN at several asparagine and 1 aspartate residue within ANK repeat region. Hydroxylation seems to increase the conformational stability of this region and may also modulate protein-protein interactions mediated by the ANK repeat region. {ECO:0000269|PubMed:21177872}.; PTM: (Microbial infection) Probably cleaved by P.falciparum SERA6; the cleavage probably causes the disruption of the actin cytoskeleton and the rupture of the erythrocyte cell membrane releasing the merozoites. {ECO:0000269|PubMed:29459732}.
uniprot
proteins
pubmed
11102985
uniprot
proteins
pubmed
12444090
uniprot
proteins
pubmed
12456646
uniprot
proteins
pubmed
12527750
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16421571
uniprot
proteins
pubmed
1689849
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
18088087
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
21177872
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
2137557
uniprot
proteins
pubmed
2141335
uniprot
proteins
pubmed
22310050
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
29459732
uniprot
proteins
pubmed
35835865
uniprot
proteins
pubmed
7665627
uniprot
proteins
pubmed
8640229
uniprot
proteins
pubmed
9235914
uniprot
proteins
pubmed
9430667
uniprot
proteins
sequence_length
1881
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform Er1]: Cytoplasm, cytoskeleton. Note=Probably the other erythrocyte (Er) isoforms, are located near the surface of erythrocytic plasma membrane.; SUBCELLULAR LOCATION: [Isoform Mu17]: Membrane. Cytoplasm, myofibril, sarcomere, M line. Note=Colocalizes with OBSCN isoform 3/obscurin at the M line in differentiated skeletal muscle cells.; SUBCELLULAR LOCATION: [Isoform Mu18]: Sarcoplasmic reticulum {ECO:0000305}.; SUBCELLULAR LOCATION: [Isoform Mu19]: Sarcoplasmic reticulum {ECO:0000305}.; SUBCELLULAR LOCATION: [Isoform Mu20]: Sarcoplasmic reticulum {ECO:0000305}.
uniprot
proteins