ANR55_HUMAN
ID ANR55_HUMAN Reviewed; 614 AA.
AC Q3KP44; B3KVT8; Q3KP45; Q9HAD3;
DT 06-FEB-2007, integrated into UniProtKB/Swiss-Prot.
DT 03-OCT-2012, sequence version 3.
DT 03-AUG-2022, entry version 132.
DE RecName: Full=Ankyrin repeat domain-containing protein 55;
GN Name=ANKRD55;
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] (ISOFORMS 1 AND 3).
RC TISSUE=Corpus callosum, and Embryo;
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=15372022; DOI=10.1038/nature02919;
RA Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S.,
RA Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M.,
RA She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.,
RA Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M.,
RA Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M.,
RA Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T.,
RA Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A.,
RA Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R.,
RA Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L.,
RA Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N.,
RA Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J.,
RA Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A.,
RA Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.;
RT "The DNA sequence and comparative analysis of human chromosome 5.";
RL Nature 431:268-274(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT MET-345.
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 [5]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
CC -!- INTERACTION:
CC Q3KP44; Q9NYB9-2: ABI2; NbExp=3; IntAct=EBI-14493093, EBI-11096309;
CC Q3KP44; Q49AR9: ANKS1A; NbExp=3; IntAct=EBI-14493093, EBI-11954519;
CC Q3KP44; Q9BYV9: BACH2; NbExp=3; IntAct=EBI-14493093, EBI-1642333;
CC Q3KP44; Q8N9N5-2: BANP; NbExp=3; IntAct=EBI-14493093, EBI-11524452;
CC Q3KP44; A0A087WZT3: BOLA2B; NbExp=3; IntAct=EBI-14493093, EBI-12006120;
CC Q3KP44; Q9NP86: CABP5; NbExp=3; IntAct=EBI-14493093, EBI-10311131;
CC Q3KP44; Q8IYR0: CFAP206; NbExp=3; IntAct=EBI-14493093, EBI-749051;
CC Q3KP44; O76071: CIAO1; NbExp=3; IntAct=EBI-14493093, EBI-725145;
CC Q3KP44; O95833: CLIC3; NbExp=3; IntAct=EBI-14493093, EBI-10192241;
CC Q3KP44; Q9NW38: FANCL; NbExp=3; IntAct=EBI-14493093, EBI-2339898;
CC Q3KP44; Q14192: FHL2; NbExp=3; IntAct=EBI-14493093, EBI-701903;
CC Q3KP44; Q5TD97: FHL5; NbExp=3; IntAct=EBI-14493093, EBI-750641;
CC Q3KP44; O43559: FRS3; NbExp=3; IntAct=EBI-14493093, EBI-725515;
CC Q3KP44; O14964: HGS; NbExp=3; IntAct=EBI-14493093, EBI-740220;
CC Q3KP44; O75031: HSF2BP; NbExp=3; IntAct=EBI-14493093, EBI-7116203;
CC Q3KP44; O43639: NCK2; NbExp=3; IntAct=EBI-14493093, EBI-713635;
CC Q3KP44; Q86UR1-2: NOXA1; NbExp=3; IntAct=EBI-14493093, EBI-12025760;
CC Q3KP44; Q99471: PFDN5; NbExp=3; IntAct=EBI-14493093, EBI-357275;
CC Q3KP44; Q13882: PTK6; NbExp=3; IntAct=EBI-14493093, EBI-1383632;
CC Q3KP44; Q8WW24: TEKT4; NbExp=3; IntAct=EBI-14493093, EBI-750487;
CC Q3KP44; P36406: TRIM23; NbExp=3; IntAct=EBI-14493093, EBI-740098;
CC Q3KP44; Q96E35: ZMYND19; NbExp=3; IntAct=EBI-14493093, EBI-746595;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q3KP44-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q3KP44-2; Sequence=VSP_022740;
CC Name=3;
CC IsoId=Q3KP44-3; Sequence=VSP_022740, VSP_022741;
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DR EMBL; AK021857; BAB13916.1; -; mRNA.
DR EMBL; AK123389; BAG53900.1; -; mRNA.
DR EMBL; AC016585; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC016638; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471123; EAW54941.1; -; Genomic_DNA.
DR EMBL; BC106914; AAI06915.1; -; mRNA.
DR EMBL; BC106915; AAI06916.1; -; mRNA.
DR CCDS; CCDS34161.1; -. [Q3KP44-1]
DR RefSeq; NP_078945.2; NM_024669.2. [Q3KP44-1]
DR RefSeq; XP_016865342.1; XM_017009853.1. [Q3KP44-1]
DR AlphaFoldDB; Q3KP44; -.
DR SMR; Q3KP44; -.
DR BioGRID; 122837; 228.
DR IntAct; Q3KP44; 34.
DR STRING; 9606.ENSP00000342295; -.
DR iPTMnet; Q3KP44; -.
DR PhosphoSitePlus; Q3KP44; -.
DR BioMuta; ANKRD55; -.
DR DMDM; 408360322; -.
DR jPOST; Q3KP44; -.
DR MassIVE; Q3KP44; -.
DR PaxDb; Q3KP44; -.
DR PeptideAtlas; Q3KP44; -.
DR PRIDE; Q3KP44; -.
DR ProteomicsDB; 3767; -.
DR ProteomicsDB; 61712; -. [Q3KP44-1]
DR ProteomicsDB; 61713; -. [Q3KP44-2]
DR ProteomicsDB; 61714; -. [Q3KP44-3]
DR Antibodypedia; 62397; 55 antibodies from 17 providers.
DR DNASU; 79722; -.
DR Ensembl; ENST00000341048.9; ENSP00000342295.4; ENSG00000164512.18. [Q3KP44-1]
DR Ensembl; ENST00000434982.2; ENSP00000429421.1; ENSG00000164512.18. [Q3KP44-2]
DR GeneID; 79722; -.
DR KEGG; hsa:79722; -.
DR MANE-Select; ENST00000341048.9; ENSP00000342295.4; NM_024669.3; NP_078945.2.
DR UCSC; uc003jqt.4; human. [Q3KP44-1]
DR CTD; 79722; -.
DR DisGeNET; 79722; -.
DR GeneCards; ANKRD55; -.
DR HGNC; HGNC:25681; ANKRD55.
DR HPA; ENSG00000164512; Group enriched (brain, liver, lymphoid tissue, testis).
DR MalaCards; ANKRD55; -.
DR MIM; 615189; gene.
DR neXtProt; NX_Q3KP44; -.
DR OpenTargets; ENSG00000164512; -.
DR Orphanet; 802; NON RARE IN EUROPE: Multiple sclerosis.
DR Orphanet; 85410; Oligoarticular juvenile idiopathic arthritis.
DR Orphanet; 85408; Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis.
DR PharmGKB; PA145149863; -.
DR VEuPathDB; HostDB:ENSG00000164512; -.
DR eggNOG; KOG0504; Eukaryota.
DR GeneTree; ENSGT00950000182908; -.
DR HOGENOM; CLU_031050_0_0_1; -.
DR InParanoid; Q3KP44; -.
DR OrthoDB; 1115202at2759; -.
DR PhylomeDB; Q3KP44; -.
DR TreeFam; TF315452; -.
DR PathwayCommons; Q3KP44; -.
DR SignaLink; Q3KP44; -.
DR BioGRID-ORCS; 79722; 3 hits in 1065 CRISPR screens.
DR ChiTaRS; ANKRD55; human.
DR GenomeRNAi; 79722; -.
DR Pharos; Q3KP44; Tbio.
DR PRO; PR:Q3KP44; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q3KP44; protein.
DR Bgee; ENSG00000164512; Expressed in sperm and 126 other tissues.
DR ExpressionAtlas; Q3KP44; baseline and differential.
DR Genevisible; Q3KP44; HS.
DR Gene3D; 1.25.40.20; -; 3.
DR InterPro; IPR002110; Ankyrin_rpt.
DR InterPro; IPR036770; Ankyrin_rpt-contain_sf.
DR Pfam; PF12796; Ank_2; 3.
DR SMART; SM00248; ANK; 9.
DR SUPFAM; SSF48403; SSF48403; 1.
DR PROSITE; PS50297; ANK_REP_REGION; 1.
DR PROSITE; PS50088; ANK_REPEAT; 3.
PE 1: Evidence at protein level;
KW Alternative splicing; ANK repeat; Phosphoprotein; Reference proteome;
KW Repeat.
FT CHAIN 1..614
FT /note="Ankyrin repeat domain-containing protein 55"
FT /id="PRO_0000274410"
FT REPEAT 26..55
FT /note="ANK 1"
FT REPEAT 60..89
FT /note="ANK 2"
FT REPEAT 93..125
FT /note="ANK 3"
FT REPEAT 126..157
FT /note="ANK 4"
FT REPEAT 161..190
FT /note="ANK 5"
FT REPEAT 194..223
FT /note="ANK 6"
FT REPEAT 230..260
FT /note="ANK 7"
FT REPEAT 264..293
FT /note="ANK 8"
FT REPEAT 297..326
FT /note="ANK 9"
FT REGION 1..20
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 319..339
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 354..375
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 454..476
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 564..614
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1..19
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 597..614
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 475
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q8BLD6"
FT VAR_SEQ 1..288
FT /note="Missing (in isoform 2 and isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_022740"
FT VAR_SEQ 289..321
FT /note="MDSNLRDINESTPLAYALYCGHTACVKLLSQES -> ML (in isoform
FT 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_022741"
FT VARIANT 345
FT /note="V -> M (in dbSNP:rs321776)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_030283"
FT VARIANT 594
FT /note="R -> Q (in dbSNP:rs34879141)"
FT /id="VAR_055516"
SQ SEQUENCE 614 AA; 68414 MW; 1B2BFC5ED5A72960 CRC64;
MMRQATMDFS TPSVFDQQRG DSSEEVDLTM VYQAASNGDV NALTAVIRED PSILECCDSE
GCTPLMHAVS GRQADTVKLL LKMGANINMQ DAYGRTSLCL ATYLGWLEGC VSLLRNGAKH
NIPDKNGRLP LHAATAEPDM RLLTVLLQQS NISEINHQDN EGMTPLHWAA FHNQPQHTQM
LLKKGADPTL VDKDFKTALH WAVQSGNRIL CSIILSHHQG PSIINYDDES GKTCVHIAAA
AGFSDIIHEL ARVPECNLQA LDVDDRTPLH WAAAAGKAEC VQSLLELGMD SNLRDINEST
PLAYALYCGH TACVKLLSQE SRTEPTRPPP SQSSRPQKKE RRFNVLNQIF CKNKKEEQRA
HQKDPSRDRY REEDTSEVND IITTFDSIVG TNCQEQPGDQ VAMVEFKKKT SDNSKYLLPE
KKPLARKGLP PIRTQSLPPI TLGNNFLTAS HRATSHAGLS SAPHHMAQRS QKSRSEQDLL
NNRTGCQMLL DNPWKSDSNQ VFSYKVWTVS SSDKLLDRLL SVRPGHQEVS VPPHLRHLHN
PSSGQNFQHL SPNRHKIRDL PFTRNNLAPL PDQKFLSGEP LRTNRVLPAI PSQRRHSTAA
EESEHSANPT SDEN