ID ANR23_HUMAN Reviewed; 305 AA.
AC Q86SG2; Q711K7; Q8NAJ7;
DT 27-JUN-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2003, sequence version 1.
DT 27-MAR-2024, entry version 159.
DE RecName: Full=Ankyrin repeat domain-containing protein 23;
DE AltName: Full=Diabetes-related ankyrin repeat protein;
DE AltName: Full=Muscle ankyrin repeat protein 3;
GN Name=ANKRD23; Synonyms=DARP;
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 [MRNA] (ISOFORM 1), AND TISSUE SPECIFICITY.
RC TISSUE=Skeletal muscle;
RX PubMed=12456686; DOI=10.1074/jbc.m204563200;
RA Ikeda K., Emoto N., Matsuo M., Yokoyama M.;
RT "Molecular identification and characterization of a novel nuclear protein
RT whose expression is up-regulated in insulin-resistant animals.";
RL J. Biol. Chem. 278:3514-3520(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND INTERACTION WITH TTN AND MYPN.
RC TISSUE=Skeletal muscle;
RX PubMed=14583192; DOI=10.1016/j.jmb.2003.09.012;
RA Miller M.K., Bang M.-L., Witt C.C., Labeit D., Trombitas C., Watanabe K.,
RA Granzier H., McElhinny A.S., Gregorio C.C., Labeit S.;
RT "The muscle ankyrin repeat proteins: CARP, ankrd2/Arpp and DARP as a family
RT of titin filament-based stress response molecules.";
RL J. Mol. Biol. 333:951-964(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Prostate;
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 [4]
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
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]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 10-305 (ISOFORM 1).
RC TISSUE=Skeletal muscle;
RA Ievolella C., Zara I., Frigimelica E., Lanfranchi G.;
RT "Full length sequencing of some human and murine muscular transcripts,
RT (Telethon Italy project B41).";
RL Submitted (JUL-2001) to the EMBL/GenBank/DDBJ databases.
CC -!- FUNCTION: May be involved in the energy metabolism. Could be a
CC molecular link between myofibrillar stretch-induced signaling pathways
CC and muscle gene expression.
CC -!- SUBUNIT: Interacts with titin/TTN and MYPN.
CC {ECO:0000269|PubMed:14583192}.
CC -!- INTERACTION:
CC Q86SG2; Q68D86: CCDC102B; NbExp=3; IntAct=EBI-5661893, EBI-10171570;
CC Q86SG2; Q2TAC2-2: CCDC57; NbExp=3; IntAct=EBI-5661893, EBI-10961624;
CC Q86SG2; Q16204: CCDC6; NbExp=3; IntAct=EBI-5661893, EBI-1045350;
CC Q86SG2; Q96GN5: CDCA7L; NbExp=3; IntAct=EBI-5661893, EBI-5278764;
CC Q86SG2; O95833: CLIC3; NbExp=3; IntAct=EBI-5661893, EBI-10192241;
CC Q86SG2; Q9UI47-2: CTNNA3; NbExp=3; IntAct=EBI-5661893, EBI-11962928;
CC Q86SG2; G5E9A7: DMWD; NbExp=3; IntAct=EBI-5661893, EBI-10976677;
CC Q86SG2; Q9H0I2: ENKD1; NbExp=3; IntAct=EBI-5661893, EBI-744099;
CC Q86SG2; Q96MY7: FAM161B; NbExp=3; IntAct=EBI-5661893, EBI-7225287;
CC Q86SG2; Q86YD7: FAM90A1; NbExp=3; IntAct=EBI-5661893, EBI-6658203;
CC Q86SG2; P62993: GRB2; NbExp=3; IntAct=EBI-5661893, EBI-401755;
CC Q86SG2; Q9UJC3: HOOK1; NbExp=3; IntAct=EBI-5661893, EBI-746704;
CC Q86SG2; Q8NA54: IQUB; NbExp=3; IntAct=EBI-5661893, EBI-10220600;
CC Q86SG2; O60341: KDM1A; NbExp=3; IntAct=EBI-5661893, EBI-710124;
CC Q86SG2; Q9BVG8-5: KIFC3; NbExp=3; IntAct=EBI-5661893, EBI-14069005;
CC Q86SG2; Q8TD10: MIPOL1; NbExp=3; IntAct=EBI-5661893, EBI-2548751;
CC Q86SG2; Q4G0R1: PIBF1; NbExp=3; IntAct=EBI-5661893, EBI-14066006;
CC Q86SG2; Q9BUI4: POLR3C; NbExp=3; IntAct=EBI-5661893, EBI-5452779;
CC Q86SG2; Q96GM5: SMARCD1; NbExp=3; IntAct=EBI-5661893, EBI-358489;
CC Q86SG2; Q7Z699: SPRED1; NbExp=3; IntAct=EBI-5661893, EBI-5235340;
CC Q86SG2; O15269-2: SPTLC1; NbExp=3; IntAct=EBI-5661893, EBI-25912901;
CC Q86SG2; Q8WV44: TRIM41; NbExp=3; IntAct=EBI-5661893, EBI-725997;
CC Q86SG2; P54577: YARS1; NbExp=3; IntAct=EBI-5661893, EBI-1048893;
CC -!- SUBCELLULAR LOCATION: Nucleus. Note=Sarcomeric I-band and some
CC intercalated disks. {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q86SG2-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q86SG2-2; Sequence=VSP_019424;
CC -!- TISSUE SPECIFICITY: Mainly expressed in heart, skeletal muscle and
CC brown adipose tissues. {ECO:0000269|PubMed:12456686}.
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DR EMBL; AF492401; AAO24067.1; -; mRNA.
DR EMBL; AY196212; AAO40750.1; -; mRNA.
DR EMBL; AK092564; BAC03915.1; -; mRNA.
DR EMBL; AC092636; AAY14965.1; -; Genomic_DNA.
DR EMBL; BC107056; AAI07057.1; -; mRNA.
DR EMBL; AJ315766; CAC86120.1; -; mRNA.
DR CCDS; CCDS2027.1; -. [Q86SG2-1]
DR RefSeq; NP_659431.5; NM_144994.7. [Q86SG2-1]
DR AlphaFoldDB; Q86SG2; -.
DR SMR; Q86SG2; -.
DR BioGRID; 128333; 20.
DR IntAct; Q86SG2; 24.
DR STRING; 9606.ENSP00000321679; -.
DR PhosphoSitePlus; Q86SG2; -.
DR BioMuta; ANKRD23; -.
DR DMDM; 74723447; -.
DR MassIVE; Q86SG2; -.
DR PaxDb; 9606-ENSP00000321679; -.
DR PeptideAtlas; Q86SG2; -.
DR Antibodypedia; 52591; 48 antibodies from 14 providers.
DR DNASU; 200539; -.
DR Ensembl; ENST00000318357.9; ENSP00000321679.4; ENSG00000163126.15. [Q86SG2-1]
DR Ensembl; ENST00000331001.2; ENSP00000333108.2; ENSG00000163126.15. [Q86SG2-2]
DR Ensembl; ENST00000418232.5; ENSP00000398987.1; ENSG00000163126.15. [Q86SG2-1]
DR GeneID; 200539; -.
DR KEGG; hsa:200539; -.
DR MANE-Select; ENST00000318357.9; ENSP00000321679.4; NM_144994.8; NP_659431.5.
DR UCSC; uc002sxa.4; human. [Q86SG2-1]
DR AGR; HGNC:24470; -.
DR CTD; 200539; -.
DR DisGeNET; 200539; -.
DR GeneCards; ANKRD23; -.
DR HGNC; HGNC:24470; ANKRD23.
DR HPA; ENSG00000163126; Group enriched (skeletal muscle, tongue).
DR MIM; 610736; gene.
DR neXtProt; NX_Q86SG2; -.
DR OpenTargets; ENSG00000163126; -.
DR PharmGKB; PA134960626; -.
DR VEuPathDB; HostDB:ENSG00000163126; -.
DR eggNOG; KOG0504; Eukaryota.
DR GeneTree; ENSGT00940000161920; -.
DR HOGENOM; CLU_000134_11_2_1; -.
DR InParanoid; Q86SG2; -.
DR OMA; RTRHCDC; -.
DR OrthoDB; 5318579at2759; -.
DR PhylomeDB; Q86SG2; -.
DR TreeFam; TF331650; -.
DR PathwayCommons; Q86SG2; -.
DR SignaLink; Q86SG2; -.
DR BioGRID-ORCS; 200539; 16 hits in 1155 CRISPR screens.
DR GeneWiki; ANKRD23; -.
DR GenomeRNAi; 200539; -.
DR Pharos; Q86SG2; Tbio.
DR PRO; PR:Q86SG2; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q86SG2; Protein.
DR Bgee; ENSG00000163126; Expressed in hindlimb stylopod muscle and 131 other cell types or tissues.
DR Genevisible; Q86SG2; HS.
DR GO; GO:0015629; C:actin cytoskeleton; IDA:HPA.
DR GO; GO:0005829; C:cytosol; IDA:HPA.
DR GO; GO:0031674; C:I band; IEA:Ensembl.
DR GO; GO:0014704; C:intercalated disc; IEA:Ensembl.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0031432; F:titin binding; IPI:BHF-UCL.
DR GO; GO:0000976; F:transcription cis-regulatory region binding; IBA:GO_Central.
DR GO; GO:0006631; P:fatty acid metabolic process; IEA:Ensembl.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0060297; P:regulation of sarcomere organization; IEA:Ensembl.
DR GO; GO:0035994; P:response to muscle stretch; IEA:Ensembl.
DR Gene3D; 1.25.40.20; Ankyrin repeat-containing domain; 2.
DR InterPro; IPR002110; Ankyrin_rpt.
DR InterPro; IPR036770; Ankyrin_rpt-contain_sf.
DR PANTHER; PTHR24127; ANKYRIN REPEAT AND EF-HAND DOMAIN-CONTAINING PROTEIN 1; 1.
DR PANTHER; PTHR24127:SF1; ANKYRIN REPEAT AND EF-HAND DOMAIN-CONTAINING PROTEIN 1; 1.
DR Pfam; PF00023; Ank; 1.
DR Pfam; PF12796; Ank_2; 1.
DR PRINTS; PR01415; ANKYRIN.
DR SMART; SM00248; ANK; 4.
DR SUPFAM; SSF48403; Ankyrin repeat; 1.
DR PROSITE; PS50297; ANK_REP_REGION; 1.
DR PROSITE; PS50088; ANK_REPEAT; 4.
PE 1: Evidence at protein level;
KW Alternative splicing; ANK repeat; Coiled coil; Nucleus; Reference proteome;
KW Repeat.
FT CHAIN 1..305
FT /note="Ankyrin repeat domain-containing protein 23"
FT /id="PRO_0000240666"
FT REPEAT 143..172
FT /note="ANK 1"
FT REPEAT 176..205
FT /note="ANK 2"
FT REPEAT 209..238
FT /note="ANK 3"
FT REPEAT 242..271
FT /note="ANK 4"
FT REGION 83..104
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 178..195
FT /note="Interaction with TTN"
FT /evidence="ECO:0000269|PubMed:14583192"
FT COILED 41..72
FT /evidence="ECO:0000255"
FT VAR_SEQ 101..142
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_019424"
FT CONFLICT 57
FT /note="K -> N (in Ref. 6; CAC86120)"
FT /evidence="ECO:0000305"
FT CONFLICT 277
FT /note="V -> L (in Ref. 3; BAC03915)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 305 AA; 34297 MW; A9BB41D0532F932D CRC64;
MDFISIQQLV SGERVEGKVL GFGHGVPDPG AWPSDWRRGP QEAVAREKLK LEEEKKKKLE
RFNSTRFNLD NLADLENLVQ RRKKRLRHRV PPRKPEPLVK PQSQAQVEPV GLEMFLKAAA
ENQEYLIDKY LTDGGDPNAH DKLHRTALHW ACLKGHSQLV NKLLVAGATV DARDLLDRTP
VFWACRGGHL VILKQLLNQG ARVNARDKIG STPLHVAVRT RHPDCLEHLI ECGAHLNAQD
KEGDTALHEA VRHGSYKAMK LLLLYGAELG VRNAASVTPV QLARDWQRGI REALQAHVAH
PRTRC
//
