ANKL1_MOUSE
ID ANKL1_MOUSE Reviewed; 534 AA.
AC A8VU90; A6H5W1; G5E8T1; Q8C4V5; Q8K2N6;
DT 02-NOV-2016, integrated into UniProtKB/Swiss-Prot.
DT 15-JAN-2008, sequence version 1.
DT 03-AUG-2022, entry version 94.
DE RecName: Full=Ankyrin repeat and LEM domain-containing protein 1 {ECO:0000250|UniProtKB:Q8NAG6};
DE EC=3.1.-.- {ECO:0000250|UniProtKB:Q8NAG6};
DE AltName: Full=Ankyrin repeat domain-containing protein 41 {ECO:0000250|UniProtKB:Q8NAG6};
DE AltName: Full=LEM-domain containing protein 3 {ECO:0000250|UniProtKB:Q8NAG6};
GN Name=Ankle1 {ECO:0000312|MGI:MGI:1918775};
GN Synonyms=Ankrd41 {ECO:0000312|MGI:MGI:1918775},
GN Lem3 {ECO:0000312|EMBL:ABW73566.1};
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090 {ECO:0000312|Proteomes:UP000000589};
RN [1] {ECO:0000312|EMBL:ABW73566.1}
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RC STRAIN=C57BL/6J {ECO:0000312|EMBL:ABW73566.1};
RA Brachner A., Foisner R., Gotzmann J.;
RT "LEM3 is a novel LEM-domain containing protein.";
RL Submitted (OCT-2007) to the EMBL/GenBank/DDBJ databases.
RN [2] {ECO:0000312|EMBL:BAC38015.1}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RX PubMed=16141072; DOI=10.1126/science.1112014;
RA Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.,
RA Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R.,
RA Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T.,
RA Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A.,
RA Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B.,
RA Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M.,
RA Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S.,
RA Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D.,
RA Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M.,
RA Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H.,
RA Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V.,
RA Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S.,
RA Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H.,
RA Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N.,
RA Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F.,
RA Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G.,
RA Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z.,
RA Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S.,
RA Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K.,
RA Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R.,
RA van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H.,
RA Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M.,
RA Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C.,
RA Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S.,
RA Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K.,
RA Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M.,
RA Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C.,
RA Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A.,
RA Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
RT "The transcriptional landscape of the mammalian genome.";
RL Science 309:1559-1563(2005).
RN [3] {ECO:0000312|Proteomes:UP000000589}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=C57BL/6J {ECO:0000312|Proteomes:UP000000589};
RX PubMed=19468303; DOI=10.1371/journal.pbio.1000112;
RA Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X.,
RA Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y.,
RA Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S.,
RA Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R.,
RA Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K.,
RA Eichler E.E., Ponting C.P.;
RT "Lineage-specific biology revealed by a finished genome assembly of the
RT mouse.";
RL PLoS Biol. 7:E1000112-E1000112(2009).
RN [4] {ECO:0000312|EMBL:EDL28917.1}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Adams M.D., Myers E.W., Smith H.O., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [5] {ECO:0000312|EMBL:AAH30436.1}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND NUCLEOTIDE SEQUENCE [LARGE
RP SCALE MRNA] OF 252-534.
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6] {ECO:0000305}
RP TISSUE SPECIFICITY, AND DISRUPTION PHENOTYPE.
RX PubMed=27010503; DOI=10.1371/journal.pone.0152278;
RA Braun J., Meixner A., Brachner A., Foisner R.;
RT "The GIY-YIG type endonuclease ankyrin repeat and LEM domain-containing
RT protein 1 (ANKLE1) is dispensable for mouse hematopoiesis.";
RL PLoS ONE 11:E0152278-E0152278(2016).
CC -!- FUNCTION: Endonuclease that probably plays a role in the DNA damage
CC response and DNA repair. {ECO:0000250|UniProtKB:Q8NAG6}.
CC -!- SUBUNIT: Interacts (via LEM domain) with BANF1; the interaction may
CC favor BANF1 dimerization. {ECO:0000250|UniProtKB:Q8NAG6}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q8NAG6}. Nucleus
CC {ECO:0000250|UniProtKB:Q8NAG6}. Note=At the steady state, predominantly
CC localizes in the cytoplasm. {ECO:0000250|UniProtKB:Q8NAG6}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1 {ECO:0000312|EMBL:EDL28917.1};
CC IsoId=A8VU90-1; Sequence=Displayed;
CC Name=2 {ECO:0000312|EMBL:EDL28919.1};
CC IsoId=A8VU90-2; Sequence=VSP_058615;
CC -!- TISSUE SPECIFICITY: Predominantly expressed in bone marrow, spleen,
CC thymus, colon and ovary. Expressed also to a lesser extent in lymph
CC nodes, liver and testis. {ECO:0000269|PubMed:27010503}.
CC -!- DOMAIN: The LEM domain is required for GIY-YIG domain-mediated DNA
CC cleavage and induction of DNA damage response.
CC {ECO:0000250|UniProtKB:Q8NAG6}.
CC -!- DISRUPTION PHENOTYPE: No visible phenotype. No defect in T cell, B cell
CC and erythrocyte development. Normal percentage of common myeloid
CC precursors (CMP) and common lymphoid precursors (CLP) in the bone
CC marrow. {ECO:0000269|PubMed:27010503}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH30436.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAC38015.1; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=BAC38015.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; EU184014; ABW73566.1; -; mRNA.
DR EMBL; AK080768; BAC38015.1; ALT_SEQ; mRNA.
DR EMBL; AC127416; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH466569; EDL28917.1; -; Genomic_DNA.
DR EMBL; CH466569; EDL28919.1; -; Genomic_DNA.
DR EMBL; BC030436; AAH30436.1; ALT_INIT; mRNA.
DR EMBL; BC145659; AAI45660.1; -; mRNA.
DR CCDS; CCDS52583.1; -. [A8VU90-1]
DR CCDS; CCDS80893.1; -. [A8VU90-2]
DR RefSeq; NP_001297431.1; NM_001310502.1. [A8VU90-2]
DR RefSeq; NP_766344.2; NM_172756.3. [A8VU90-1]
DR AlphaFoldDB; A8VU90; -.
DR SMR; A8VU90; -.
DR STRING; 10090.ENSMUSP00000113162; -.
DR PhosphoSitePlus; A8VU90; -.
DR EPD; A8VU90; -.
DR MaxQB; A8VU90; -.
DR PaxDb; A8VU90; -.
DR PRIDE; A8VU90; -.
DR ProteomicsDB; 281982; -. [A8VU90-1]
DR ProteomicsDB; 281983; -. [A8VU90-2]
DR Antibodypedia; 27599; 41 antibodies from 22 providers.
DR DNASU; 234396; -.
DR Ensembl; ENSMUST00000119976; ENSMUSP00000113162; ENSMUSG00000046295. [A8VU90-1]
DR Ensembl; ENSMUST00000120725; ENSMUSP00000112797; ENSMUSG00000046295. [A8VU90-2]
DR GeneID; 234396; -.
DR KEGG; mmu:234396; -.
DR UCSC; uc009mdc.2; mouse.
DR UCSC; uc009mdd.2; mouse. [A8VU90-1]
DR CTD; 126549; -.
DR MGI; MGI:1918775; Ankle1.
DR VEuPathDB; HostDB:ENSMUSG00000046295; -.
DR eggNOG; KOG4177; Eukaryota.
DR GeneTree; ENSGT00510000049316; -.
DR InParanoid; A8VU90; -.
DR OMA; CCQHPPV; -.
DR OrthoDB; 1451150at2759; -.
DR PhylomeDB; A8VU90; -.
DR TreeFam; TF319333; -.
DR BioGRID-ORCS; 234396; 5 hits in 73 CRISPR screens.
DR ChiTaRS; Ankle1; mouse.
DR PRO; PR:A8VU90; -.
DR Proteomes; UP000000589; Chromosome 8.
DR RNAct; A8VU90; protein.
DR Bgee; ENSMUSG00000046295; Expressed in embryonic post-anal tail and 85 other tissues.
DR GO; GO:0005737; C:cytoplasm; ISO:MGI.
DR GO; GO:0005829; C:cytosol; ISO:MGI.
DR GO; GO:0005654; C:nucleoplasm; ISO:MGI.
DR GO; GO:0005634; C:nucleus; ISO:MGI.
DR GO; GO:0004520; F:endodeoxyribonuclease activity; IBA:GO_Central.
DR GO; GO:0004519; F:endonuclease activity; ISO:MGI.
DR GO; GO:0000724; P:double-strand break repair via homologous recombination; IBA:GO_Central.
DR GO; GO:0045950; P:negative regulation of mitotic recombination; IGI:UniProtKB.
DR GO; GO:2001022; P:positive regulation of response to DNA damage stimulus; ISO:MGI.
DR GO; GO:0006611; P:protein export from nucleus; ISO:MGI.
DR GO; GO:1905456; P:regulation of lymphoid progenitor cell differentiation; IMP:UniProtKB.
DR GO; GO:1905453; P:regulation of myeloid progenitor cell differentiation; IMP:UniProtKB.
DR GO; GO:0000712; P:resolution of meiotic recombination intermediates; IBA:GO_Central.
DR Gene3D; 1.10.720.40; -; 1.
DR Gene3D; 1.25.40.20; -; 1.
DR InterPro; IPR034998; ANKLE1.
DR InterPro; IPR002110; Ankyrin_rpt.
DR InterPro; IPR036770; Ankyrin_rpt-contain_sf.
DR InterPro; IPR000305; GIY-YIG_endonuc.
DR InterPro; IPR011015; LEM/LEM-like_dom_sf.
DR InterPro; IPR003887; LEM_dom.
DR PANTHER; PTHR46427; PTHR46427; 2.
DR Pfam; PF12796; Ank_2; 1.
DR Pfam; PF03020; LEM; 1.
DR SMART; SM00248; ANK; 4.
DR SUPFAM; SSF48403; SSF48403; 1.
DR SUPFAM; SSF63451; SSF63451; 1.
DR PROSITE; PS50297; ANK_REP_REGION; 1.
DR PROSITE; PS50088; ANK_REPEAT; 2.
DR PROSITE; PS50164; GIY_YIG; 1.
DR PROSITE; PS50954; LEM; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; ANK repeat; Cytoplasm; DNA damage; DNA repair;
KW Endonuclease; Hydrolase; Nuclease; Nucleus; Reference proteome; Repeat.
FT CHAIN 1..534
FT /note="Ankyrin repeat and LEM domain-containing protein 1"
FT /evidence="ECO:0000305"
FT /id="PRO_0000438146"
FT REPEAT 4..35
FT /note="ANK 1"
FT /evidence="ECO:0000255"
FT REPEAT 39..71
FT /note="ANK 2"
FT /evidence="ECO:0000255"
FT REPEAT 75..104
FT /note="ANK 3"
FT /evidence="ECO:0000255"
FT REPEAT 108..137
FT /note="ANK 4"
FT /evidence="ECO:0000255"
FT DOMAIN 279..323
FT /note="LEM"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00313"
FT DOMAIN 370..485
FT /note="GIY-YIG"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00977"
FT MOTIF 498..505
FT /note="Nuclear localization signal"
FT /evidence="ECO:0000250|UniProtKB:Q8NAG6"
FT VAR_SEQ 145..164
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000305"
FT /id="VSP_058615"
FT CONFLICT 425
FT /note="F -> L (in Ref. 5; AAH30436/AAI45660)"
FT /evidence="ECO:0000305"
FT CONFLICT 478..479
FT /note="GL -> VF (in Ref. 2; BAC38015)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 534 AA; 58441 MW; 85D85E2D732FA96E CRC64;
MADTACLALR LLAALREEEA RAVEELLRLG ADPNLVLDDG AAAVHLAARA SHPRALHCLR
MLLRWGADPN ARSAEGLTPV HVAAAWGCCG ALELLLSRGG DPTLRDQDGL RPLDWALQQR
HHNCARVLQE LDTPTQPDET REPTETFHVA QGSFETETCQ GPALAESSGV SQDSELHVHR
AELEVEAVEV AVHPQSSEAT ENSDYSSDAS FVTAVEDSLQ PGRPGGALEL VAGLWVTRGA
VSAGKGAPNC QPQVLTLTAR DTDKPVLPGD GDLGALHPHS SVPPMSDLQL LQALRALGYS
PGPVTPFTRG HYLRRLQEAQ ASRADVGHSQ ELAEALRTGT IPDCQVDEEA LAQCFQRLDP
LKKWREGITK SSFTYLLLDP RLTKDLPARA SSLTLAECLQ CFVRAIFYVG KGTRARPDAH
LWEAFGYHDQ PRKQVCPKVR RILDIWASGR GIISLHCFQH VVAMEAYTRE ACLLDALGLQ
TLTNQKQGHY YGVVAHWPPS RRRRLGVHLL QRALLVFLAE GERELRPQDI QARG
