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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
 
 
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