Property Summary

NCBI Gene PubMed Count 73
Grant Count 237
R01 Count 145
Funding $32,803,424.28
PubMed Score 289.86
PubTator Score 246.05

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (11)

Disease log2 FC p
osteosarcoma -5.166 0.000
ependymoma -2.100 0.000
glioblastoma -1.800 0.000
sonic hedgehog group medulloblastoma -1.300 0.013
cystic fibrosis -1.777 0.000
atypical teratoid / rhabdoid tumor -1.700 0.000
primitive neuroectodermal tumor -1.200 0.016
acute quadriplegic myopathy -1.134 0.000
adult high grade glioma -1.900 0.000
pilocytic astrocytoma -1.600 0.000
subependymal giant cell astrocytoma -2.142 0.007

Synonym

Accession P16157 A0PJN8 A6NJ23 E5RFL7 O43400 Q13768 Q53ER1 Q59FP2 Q8N604 Q99407 ANK-1
Symbols ANK
SPH1
SPH2

Gene

PANTHER Protein Class (1)

PDB

3KBT   3KBU   1N11   2YQF   2YVI   3F59   3UD1   3UD2  

Gene RIF (31)

PMID Text
26107955 analysis of a novel p.Q1772X ANK1 mutation in a Korean family with hereditary spherocytosis [case report of two family members]
25129077 We identified a differentially methylated region in the ankyrin 1 (ANK1) gene that was associated with neuropathology in the entorhinal cortex, a primary site of Alzheimer disease manifestation.
25129075 Our analyses suggest that these DNA methylation changes may have a role in the onset of Alzheimer disease given that we observed them in presymptomatic subjects and that six of the validated genes connect to a known susceptibility gene network.
24903897 A novel L1340P mutation in the ANK1 gene is associated with hereditary spherocytosis.
24758720 The study reports the refinement for a protein heterodimer complex using limited EPR spectroscopic data and a rigid-body docking algorithm: a three-dimensional model for an ankyrin 1-BND3 complex.
23457408 ANK1 rs516946 confers impaired insulin release.
23013433 The ankyrin-binding site on band 3 is located near the deoxygenated hemoglobin-binding site, therefore following deoxygenation ankyrin is displaced from band 3.
22968456 A tissue-specific chromatin loop brings NF-E2 and ANK1E into close proximity preventing gene silencing and mutagenesis leading to hereditary spherocytosis.
22573887 The interaction of KCTD6 with ankyrin-1 may have implications beyond muscle for hereditary spherocytosis, as KCTD6 is also present in erythrocytes, and erythrocyte ankyrin isoforms contain its mapped minimal binding site.
22456796 results indicate that the ANK1 locus is a new, common susceptibility locus for type 2 diabetes across different ethnic groups
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AA Sequence

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
//

Text Mined References (83)

PMID Year Title
26107955 2015 Identification of a novel p.Q1772X ANK1 mutation in a Korean family with hereditary spherocytosis.
25129077 2014 Methylomic profiling implicates cortical deregulation of ANK1 in Alzheimer's disease.
25129075 2014 Alzheimer's disease: early alterations in brain DNA methylation at ANK1, BIN1, RHBDF2 and other loci.
24903897 2014 A novel L1340P mutation in the ANK1 gene is associated with hereditary spherocytosis?
24758720 2014 Automated structure refinement for a protein heterodimer complex using limited EPR spectroscopic data and a rigid-body docking algorithm: a three-dimensional model for an ankyrin-CDB3 complex.
24647736 2014 Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians.
24509480 2014 Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23457408 2013 Type 2 diabetes risk alleles near BCAR1 and in ANK1 associate with decreased ?-cell function whereas risk alleles near ANKRD55 and GRB14 associate with decreased insulin sensitivity in the Danish Inter99 cohort.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
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