ANR53_HUMAN
ID ANR53_HUMAN Reviewed; 530 AA.
AC Q8N9V6; Q8IYP8;
DT 06-FEB-2007, integrated into UniProtKB/Swiss-Prot.
DT 16-MAY-2012, sequence version 3.
DT 03-AUG-2022, entry version 134.
DE RecName: Full=Ankyrin repeat domain-containing protein 53;
GN Name=ANKRD53;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT LEU-431.
RC TISSUE=Testis;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT ILE-153.
RC TISSUE=Brain;
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 [4]
RP FUNCTION, INTERACTION WITH PSRC1, SUBCELLULAR LOCATION, AND
RP PHOSPHORYLATION.
RX PubMed=26820536; DOI=10.1016/j.bbrc.2016.01.144;
RA Kim S., Jang C.Y.;
RT "ANKRD53 interacts with DDA3 and regulates chromosome integrity during
RT mitosis.";
RL Biochem. Biophys. Res. Commun. 470:484-491(2016).
CC -!- FUNCTION: Required for normal progression through mitosis. Involved in
CC chromosome alignment and cytokinesis via regulation of microtubules
CC polymerization. {ECO:0000269|PubMed:26820536}.
CC -!- SUBUNIT: Interacts with PSRC1; recruited by PSRC1 to the spindle during
CC mitosis (PubMed:26820536). {ECO:0000269|PubMed:26820536}.
CC -!- INTERACTION:
CC Q8N9V6-2; P41182: BCL6; NbExp=3; IntAct=EBI-13345447, EBI-765407;
CC Q8N9V6-2; Q8IVS8: GLYCTK; NbExp=3; IntAct=EBI-13345447, EBI-748515;
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, spindle
CC {ECO:0000269|PubMed:26820536}. Cytoplasm, cytoskeleton, spindle pole
CC {ECO:0000269|PubMed:26820536}. Note=Localizes at the spindle around the
CC centrosome at prophase and prometaphase and at the spindle poles at
CC metaphase and anaphase (PubMed:26820536).
CC {ECO:0000269|PubMed:26820536}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8N9V6-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8N9V6-2; Sequence=VSP_022768, VSP_022769;
CC -!- PTM: Phosphorylated during mitosis (PubMed:26820536).
CC {ECO:0000269|PubMed:26820536}.
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DR EMBL; AK093479; BAC04181.1; -; mRNA.
DR EMBL; AC007040; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC035234; AAH35234.1; -; mRNA.
DR CCDS; CCDS1913.1; -. [Q8N9V6-2]
DR CCDS; CCDS46321.1; -. [Q8N9V6-1]
DR RefSeq; NP_001108588.1; NM_001115116.1. [Q8N9V6-1]
DR RefSeq; NP_079209.3; NM_024933.3. [Q8N9V6-2]
DR AlphaFoldDB; Q8N9V6; -.
DR SMR; Q8N9V6; -.
DR BioGRID; 123057; 4.
DR IntAct; Q8N9V6; 3.
DR STRING; 9606.ENSP00000353796; -.
DR iPTMnet; Q8N9V6; -.
DR PhosphoSitePlus; Q8N9V6; -.
DR BioMuta; ANKRD53; -.
DR DMDM; 387912915; -.
DR jPOST; Q8N9V6; -.
DR MassIVE; Q8N9V6; -.
DR PaxDb; Q8N9V6; -.
DR PeptideAtlas; Q8N9V6; -.
DR PRIDE; Q8N9V6; -.
DR Antibodypedia; 53588; 176 antibodies from 17 providers.
DR DNASU; 79998; -.
DR Ensembl; ENST00000272421.10; ENSP00000272421.6; ENSG00000144031.12. [Q8N9V6-2]
DR Ensembl; ENST00000360589.4; ENSP00000353796.3; ENSG00000144031.12. [Q8N9V6-1]
DR GeneID; 79998; -.
DR KEGG; hsa:79998; -.
DR MANE-Select; ENST00000360589.4; ENSP00000353796.3; NM_001115116.2; NP_001108588.1.
DR UCSC; uc002shk.5; human. [Q8N9V6-1]
DR CTD; 79998; -.
DR GeneCards; ANKRD53; -.
DR HGNC; HGNC:25691; ANKRD53.
DR HPA; ENSG00000144031; Tissue enhanced (testis).
DR MIM; 617009; gene.
DR neXtProt; NX_Q8N9V6; -.
DR OpenTargets; ENSG00000144031; -.
DR PharmGKB; PA144596517; -.
DR VEuPathDB; HostDB:ENSG00000144031; -.
DR eggNOG; KOG4177; Eukaryota.
DR GeneTree; ENSGT00390000005650; -.
DR HOGENOM; CLU_074833_0_0_1; -.
DR InParanoid; Q8N9V6; -.
DR OMA; PCIHYLL; -.
DR OrthoDB; 1055342at2759; -.
DR PhylomeDB; Q8N9V6; -.
DR TreeFam; TF351267; -.
DR PathwayCommons; Q8N9V6; -.
DR SignaLink; Q8N9V6; -.
DR BioGRID-ORCS; 79998; 15 hits in 1061 CRISPR screens.
DR ChiTaRS; ANKRD53; human.
DR GenomeRNAi; 79998; -.
DR Pharos; Q8N9V6; Tbio.
DR PRO; PR:Q8N9V6; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q8N9V6; protein.
DR Bgee; ENSG00000144031; Expressed in right testis and 119 other tissues.
DR ExpressionAtlas; Q8N9V6; baseline and differential.
DR Genevisible; Q8N9V6; HS.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-KW.
DR GO; GO:0005819; C:spindle; IDA:UniProtKB.
DR GO; GO:0000922; C:spindle pole; IDA:UniProtKB.
DR GO; GO:0051301; P:cell division; IEA:UniProtKB-KW.
DR GO; GO:0007080; P:mitotic metaphase plate congression; IMP:UniProtKB.
DR GO; GO:0031116; P:positive regulation of microtubule polymerization; IMP:UniProtKB.
DR GO; GO:1902412; P:regulation of mitotic cytokinesis; IMP:UniProtKB.
DR GO; GO:0060236; P:regulation of mitotic spindle organization; IMP:UniProtKB.
DR Gene3D; 1.25.40.20; -; 1.
DR InterPro; IPR042335; ANKRD53.
DR InterPro; IPR002110; Ankyrin_rpt.
DR InterPro; IPR036770; Ankyrin_rpt-contain_sf.
DR PANTHER; PTHR24160; PTHR24160; 1.
DR Pfam; PF12796; Ank_2; 1.
DR SMART; SM00248; ANK; 3.
DR SUPFAM; SSF48403; SSF48403; 1.
DR PROSITE; PS50297; ANK_REP_REGION; 1.
DR PROSITE; PS50088; ANK_REPEAT; 2.
PE 1: Evidence at protein level;
KW Alternative splicing; ANK repeat; Cell cycle; Cell division; Cytoplasm;
KW Cytoskeleton; Mitosis; Phosphoprotein; Reference proteome; Repeat.
FT CHAIN 1..530
FT /note="Ankyrin repeat domain-containing protein 53"
FT /id="PRO_0000274490"
FT REPEAT 139..169
FT /note="ANK 1"
FT REPEAT 173..206
FT /note="ANK 2"
FT REPEAT 210..239
FT /note="ANK 3"
FT REGION 1..99
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 323..360
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 383..402
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 30..56
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 325..343
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 302..343
FT /note="KEHKILREAAIRKWLHGKLHPGHSLVSNTKQARATALSKTPE -> GQGCSV
FT HFPFAFSPITPETLLWQDISLLSDCGFLWRRRELSF (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_022768"
FT VAR_SEQ 344..530
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_022769"
FT VARIANT 105
FT /note="A -> G (in dbSNP:rs35096506)"
FT /id="VAR_061018"
FT VARIANT 153
FT /note="L -> I (in dbSNP:rs17853403)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_030300"
FT VARIANT 243
FT /note="M -> T (in dbSNP:rs36123544)"
FT /id="VAR_054427"
FT VARIANT 349
FT /note="R -> L (in dbSNP:rs11688921)"
FT /id="VAR_067464"
FT VARIANT 431
FT /note="H -> L (in dbSNP:rs3796100)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_067465"
FT CONFLICT 523
FT /note="L -> P (in Ref. 1; BAC04181)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 530 AA; 59571 MW; EE6803C7A1DF349F CRC64;
MASAGSTARR AGSGSWHSER GEGRGARPQP TPSGSMQQAN KVSLKATWTD AESKQPSQPL
PDLADHLSAQ ATALARPRRP ASLTPPRADP SPSKESDQTA IDQTAIGSYY QLFAAAVGNV
EWLRFCLNQS LREIPTDDKG FTAIHFAAQW GKLACLQVLV EEYKFPVDLL TNNSQTPLHL
VIHRDNTTVA LPCIYYLLEK GADLNAQTCN GSTPLHLAAR DGLLDCVKVL VQSGANVHAQ
DAMGYKPIDF CKIWNHRACA RFLKDAMWKK DKKDFAREMT KMKMFKSQLT LMEHNYLIEY
QKEHKILREA AIRKWLHGKL HPGHSLVSNT KQARATALSK TPEQRESQRS RSFHPSVDAR
LQCIPQPTEM PKPIYRKPTV KRPTMWNVSN NPARPPTTQI SHSQGIRLGV HPDPTPEHDF
SSFLEVRPDG HGGARLHTVD GHWVAPVPRL PFEVLLRMLY PRVWPYRMKV PQGFYPISMR
EVPRKRHLGD NTFWTDTLAM NLRDTFDEAF LAAVRSHQGL PTLPSPQTNP
