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    ANKLE1 ankyrin repeat and LEM domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 126549, updated on 4-Jan-2025

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Biochemical and mechanistic analysis of the cleavage of branched DNA by human ANKLE1.

    Biochemical and mechanistic analysis of the cleavage of branched DNA by human ANKLE1.
    Freeman ADJ, Déclais AC, Wilson TJ, Lilley DMJ., Free PMC Article

    06/29/2023
    Human Endonuclease ANKLE1 Localizes at the Midbody and Processes Chromatin Bridges to Prevent DNA Damage and cGAS-STING Activation.

    Human Endonuclease ANKLE1 Localizes at the Midbody and Processes Chromatin Bridges to Prevent DNA Damage and cGAS-STING Activation.
    Jiang H, Kong N, Liu Z, West SC, Chan YW., Free PMC Article

    04/28/2023
    Dephosphocholination by Legionella effector Lem3 functions through remodelling of the switch II region of Rab1b.

    Dephosphocholination by Legionella effector Lem3 functions through remodelling of the switch II region of Rab1b.
    Kaspers MS, Pogenberg V, Pett C, Ernst S, Ecker F, Ochtrop P, Groll M, Hedberg C, Itzen A., Free PMC Article

    04/24/2023
    Investigation of triple-negative breast cancer risk alleles in an International African-enriched cohort.

    Investigation of triple-negative breast cancer risk alleles in an International African-enriched cohort.
    Martini R, Chen Y, Jenkins BD, Elhussin IA, Cheng E, Hoda SA, Ginter PS, Hanover J, Zeidan RB, Oppong JK, Adjei EK, Jibril A, Chitale D, Bensenhaver JM, Awuah B, Bekele M, Abebe E, Kyei I, Aitpillah FS, Adinku MO, Ankomah K, Osei-Bonsu EB, Nathansan SD, Jackson L, Jiagge E, Petersen LF, Proctor E, Nikolinakos P, Gyan KK, Yates C, Kittles R, Newman LA, Davis MB., Free PMC Article

    11/13/2021
    ANKLE1 N(6) -Methyladenosine-related variant is associated with colorectal cancer risk by maintaining the genomic stability.

    ANKLE1 N(6) -Methyladenosine-related variant is associated with colorectal cancer risk by maintaining the genomic stability.
    Tian J, Ying P, Ke J, Zhu Y, Yang Y, Gong Y, Zou D, Peng X, Yang N, Wang X, Mei S, Zhang Y, Wang C, Zhong R, Chang J, Miao X.

    03/13/2021
    Human ANKLE1 Is a Nuclease Specific for Branched DNA.

    Human ANKLE1 Is a Nuclease Specific for Branched DNA.
    Song J, Freeman ADJ, Knebel A, Gartner A, Lilley DMJ., Free PMC Article

    03/6/2021
    We used The Cancer Genome Atlas breast cancer patient data to identify ANKLE1 and ZNF404 as the target genes of candidate TF binding site SNPs in the 19p13.11 and 19q13.31 GWAS-identified loci. These SNPs are associated with the expression of ZNF404 and ANKLE1 in breast tissue.

    Identification of breast cancer associated variants that modulate transcription factor binding.
    Liu Y, Walavalkar NM, Dozmorov MG, Rich SS, Civelek M, Guertin MJ., Free PMC Article

    10/14/2017
    the domains mediating nuclear import and export of Ankle1, were identified.

    Nucleo-cytoplasmic shuttling of the endonuclease ankyrin repeats and LEM domain-containing protein 1 (Ankle1) is mediated by canonical nuclear export- and nuclear import signals.
    Zlopasa L, Brachner A, Foisner R., Free PMC Article

    06/3/2017
    Expression of RCCD1 in whole blood was also suggestively associated with disease risk (p-value: 1.2x10-05), as were expression of ACAP1 (p-value: 1.9x10-05) and LRRC25 (p-value: 5.2x10-05). While genome-wide association studies (GWAS) have implicated RCCD1 and ANKLE1 in breast cancer risk, they have not identified the remaining three genes

    Cis-eQTL-based trans-ethnic meta-analysis reveals novel genes associated with breast cancer risk.
    Hoffman JD, Graff RE, Emami NC, Tai CG, Passarelli MN, Hu D, Huntsman S, Hadley D, Leong L, Majumdar A, Zaitlen N, Ziv E, Witte JS., Free PMC Article

    04/29/2017
    Ankle1 is conserved in metazoans and contains a unique C-terminal GIY-YIG motif that confers endonuclease activity in vitro and in vivo

    The endonuclease Ankle1 requires its LEM and GIY-YIG motifs for DNA cleavage in vivo.
    Brachner A, Braun J, Ghodgaonkar M, Castor D, Zlopasa L, Ehrlich V, Jiricny J, Gotzmann J, Knasmüller S, Foisner R., Free PMC Article

    04/6/2013
    Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)

    Common variants at 19p13 are associated with susceptibility to ovarian cancer.
    Bolton KL, Tyrer J, Song H, Ramus SJ, Notaridou M, Jones C, Sher T, Gentry-Maharaj A, Wozniak E, Tsai YY, Weidhaas J, Paik D, Van Den Berg DJ, Stram DO, Pearce CL, Wu AH, Brewster W, Anton-Culver H, Ziogas A, Narod SA, Levine DA, Kaye SB, Brown R, Paul J, Flanagan J, Sieh W, McGuire V, Whittemore AS, Campbell I, Gore ME, Lissowska J, Yang HP, Medrek K, Gronwald J, Lubinski J, Jakubowska A, Le ND, Cook LS, Kelemen LE, Brooks-Wilson A, Massuger LF, Kiemeney LA, Aben KK, van Altena AM, Houlston R, Tomlinson I, Palmieri RT, Moorman PG, Schildkraut J, Iversen ES, Phelan C, Vierkant RA, Cunningham JM, Goode EL, Fridley BL, Kruger-Kjaer S, Blaeker J, Hogdall E, Hogdall C, Gross J, Karlan BY, Ness RB, Edwards RP, Odunsi K, Moyisch KB, Baker JA, Modugno F, Heikkinenen T, Butzow R, Nevanlinna H, Leminen A, Bogdanova N, Antonenkova N, Doerk T, Hillemanns P, Dürst M, Runnebaum I, Thompson PJ, Carney ME, Goodman MT, Lurie G, Wang-Gohrke S, Hein R, Chang-Claude J, Rossing MA, Cushing-Haugen KL, Doherty J, Chen C, Rafnar T, Besenbacher S, Sulem P, Stefansson K, Birrer MJ, Terry KL, Hernandez D, Cramer DW, Vergote I, Amant F, Lambrechts D, Despierre E, Fasching PA, Beckmann MW, Thiel FC, Ekici AB, Chen X, Australian Ovarian Cancer Study Group, Australian Cancer Study (Ovarian Cancer), Ovarian Cancer Association Consortium, Johnatty SE, Webb PM, Beesley J, Chanock S, Garcia-Closas M, Sellers T, Easton DF, Berchuck A, Chenevix-Trench G, Pharoah PD, Gayther SA., Free PMC Article

    12/5/2010
    Observational study and genome-wide association study of gene-disease association and gene-gene interaction. (HuGE Navigator)

    A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population.
    Antoniou AC, Wang X, Fredericksen ZS, McGuffog L, Tarrell R, Sinilnikova OM, Healey S, Morrison J, Kartsonaki C, Lesnick T, Ghoussaini M, Barrowdale D, EMBRACE, Peock S, Cook M, Oliver C, Frost D, Eccles D, Evans DG, Eeles R, Izatt L, Chu C, Douglas F, Paterson J, Stoppa-Lyonnet D, Houdayer C, Mazoyer S, Giraud S, Lasset C, Remenieras A, Caron O, Hardouin A, Berthet P, GEMO Study Collaborators, Hogervorst FB, Rookus MA, Jager A, van den Ouweland A, Hoogerbrugge N, van der Luijt RB, Meijers-Heijboer H, Gómez García EB, HEBON, Devilee P, Vreeswijk MP, Lubinski J, Jakubowska A, Gronwald J, Huzarski T, Byrski T, Górski B, Cybulski C, Spurdle AB, Holland H, kConFab, Goldgar DE, John EM, Hopper JL, Southey M, Buys SS, Daly MB, Terry MB, Schmutzler RK, Wappenschmidt B, Engel C, Meindl A, Preisler-Adams S, Arnold N, Niederacher D, Sutter C, Domchek SM, Nathanson KL, Rebbeck T, Blum JL, Piedmonte M, Rodriguez GC, Wakeley K, Boggess JF, Basil J, Blank SV, Friedman E, Kaufman B, Laitman Y, Milgrom R, Andrulis IL, Glendon G, Ozcelik H, Kirchhoff T, Vijai J, Gaudet MM, Altshuler D, Guiducci C, SWE-BRCA, Loman N, Harbst K, Rantala J, Ehrencrona H, Gerdes AM, Thomassen M, Sunde L, Peterlongo P, Manoukian S, Bonanni B, Viel A, Radice P, Caldes T, de la Hoya M, Singer CF, Fink-Retter A, Greene MH, Mai PL, Loud JT, Guidugli L, Lindor NM, Hansen TV, Nielsen FC, Blanco I, Lazaro C, Garber J, Ramus SJ, Gayther SA, Phelan C, Narod S, Szabo CI, MOD SQUAD, Benitez J, Osorio A, Nevanlinna H, Heikkinen T, Caligo MA, Beattie MS, Hamann U, Godwin AK, Montagna M, Casella C, Neuhausen SL, Karlan BY, Tung N, Toland AE, Weitzel J, Olopade O, Simard J, Soucy P, Rubinstein WS, Arason A, Rennert G, Martin NG, Montgomery GW, Chang-Claude J, Flesch-Janys D, Brauch H, GENICA, Severi G, Baglietto L, Cox A, Cross SS, Miron P, Gerty SM, Tapper W, Yannoukakos D, Fountzilas G, Fasching PA, Beckmann MW, Dos Santos Silva I, Peto J, Lambrechts D, Paridaens R, Rüdiger T, Försti A, Winqvist R, Pylkäs K, Diasio RB, Lee AM, Eckel-Passow J, Vachon C, Blows F, Driver K, Dunning A, Pharoah PP, Offit K, Pankratz VS, Hakonarson H, Chenevix-Trench G, Easton DF, Couch FJ., Free PMC Article

    12/5/2010
    Observational study of gene-disease association. (HuGE Navigator)

    New genetic associations detected in a host response study to hepatitis B vaccine.
    Davila S, Froeling FE, Tan A, Bonnard C, Boland GJ, Snippe H, Hibberd ML, Seielstad M.

    04/7/2010
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