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ZN551_HUMAN
ID   ZN551_HUMAN             Reviewed;         670 AA.
AC   Q7Z340; B4DU22; P17034; Q8N246; Q9BRY1;
DT   19-JUL-2005, integrated into UniProtKB/Swiss-Prot.
DT   17-OCT-2006, sequence version 3.
DT   03-AUG-2022, entry version 165.
DE   RecName: Full=Zinc finger protein 551;
DE   AltName: Full=Zinc finger protein KOX23;
GN   Name=ZNF551; Synonyms=KOX23;
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 3), AND NUCLEOTIDE SEQUENCE
RP   [LARGE SCALE MRNA] OF 1-502 (ISOFORM 2).
RC   TISSUE=Placenta, and Tongue;
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 MRNA] (ISOFORM 2).
RC   TISSUE=Testis;
RX   PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA   Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA   Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA   Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA   Wiemann S., Schupp I.;
RT   "The full-ORF clone resource of the German cDNA consortium.";
RL   BMC Genomics 8:399-399(2007).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=15057824; DOI=10.1038/nature02399;
RA   Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E.,
RA   Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A.,
RA   Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S.,
RA   Carrano A.V., Caoile C., Chan Y.M., Christensen M., Cleland C.A.,
RA   Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J.,
RA   Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M.,
RA   Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W.,
RA   Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V.,
RA   Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D.,
RA   McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I.,
RA   Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L.,
RA   Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A.,
RA   She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M.,
RA   Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J.,
RA   Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E.,
RA   Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M.,
RA   Rubin E.M., Lucas S.M.;
RT   "The DNA sequence and biology of human chromosome 19.";
RL   Nature 428:529-535(2004).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC   TISSUE=Muscle;
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   NUCLEOTIDE SEQUENCE [MRNA] OF 531-586 (ISOFORMS 1/2).
RC   TISSUE=Lymphoid tissue;
RX   PubMed=2288909;
RA   Thiesen H.-J.;
RT   "Multiple genes encoding zinc finger domains are expressed in human T
RT   cells.";
RL   New Biol. 2:363-374(1990).
RN   [6]
RP   PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-126, AND IDENTIFICATION BY
RP   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).
RN   [7]
RP   SUMOYLATION [LARGE SCALE ANALYSIS] AT LYS-319, AND IDENTIFICATION BY MASS
RP   SPECTROMETRY [LARGE SCALE ANALYSIS].
RX   PubMed=28112733; DOI=10.1038/nsmb.3366;
RA   Hendriks I.A., Lyon D., Young C., Jensen L.J., Vertegaal A.C.,
RA   Nielsen M.L.;
RT   "Site-specific mapping of the human SUMO proteome reveals co-modification
RT   with phosphorylation.";
RL   Nat. Struct. Mol. Biol. 24:325-336(2017).
CC   -!- FUNCTION: May be involved in transcriptional regulation.
CC   -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=3;
CC       Name=1;
CC         IsoId=Q7Z340-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q7Z340-2; Sequence=VSP_014799;
CC       Name=3;
CC         IsoId=Q7Z340-3; Sequence=VSP_014800;
CC   -!- SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein
CC       family. {ECO:0000305}.
CC   -!- CAUTION: It is uncertain whether Met-1 or Met-17 is the initiator.
CC       {ECO:0000305}.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=AAH05868.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR   EMBL; AK091273; BAC03625.1; -; mRNA.
DR   EMBL; AK300465; BAG62184.1; -; mRNA.
DR   EMBL; BX538151; CAD98037.1; -; mRNA.
DR   EMBL; AC004017; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; BC005868; AAH05868.1; ALT_INIT; mRNA.
DR   EMBL; X52354; CAA36580.1; -; mRNA.
DR   CCDS; CCDS12959.2; -. [Q7Z340-1]
DR   PIR; I37963; I37963.
DR   RefSeq; NP_001257867.1; NM_001270938.1.
DR   RefSeq; NP_612356.2; NM_138347.4. [Q7Z340-1]
DR   AlphaFoldDB; Q7Z340; -.
DR   SMR; Q7Z340; -.
DR   BioGRID; 124681; 1.
DR   STRING; 9606.ENSP00000282296; -.
DR   iPTMnet; Q7Z340; -.
DR   PhosphoSitePlus; Q7Z340; -.
DR   BioMuta; ZNF551; -.
DR   DMDM; 116242860; -.
DR   EPD; Q7Z340; -.
DR   jPOST; Q7Z340; -.
DR   MassIVE; Q7Z340; -.
DR   PaxDb; Q7Z340; -.
DR   PeptideAtlas; Q7Z340; -.
DR   PRIDE; Q7Z340; -.
DR   ProteomicsDB; 69004; -. [Q7Z340-1]
DR   ProteomicsDB; 69005; -. [Q7Z340-2]
DR   ProteomicsDB; 69006; -. [Q7Z340-3]
DR   Antibodypedia; 19662; 91 antibodies from 17 providers.
DR   DNASU; 90233; -.
DR   Ensembl; ENST00000282296.10; ENSP00000282296.5; ENSG00000204519.11. [Q7Z340-1]
DR   GeneID; 90233; -.
DR   KEGG; hsa:90233; -.
DR   MANE-Select; ENST00000282296.10; ENSP00000282296.5; NM_138347.5; NP_612356.2.
DR   UCSC; uc002qpw.6; human. [Q7Z340-1]
DR   CTD; 90233; -.
DR   GeneCards; ZNF551; -.
DR   HGNC; HGNC:25108; ZNF551.
DR   HPA; ENSG00000204519; Low tissue specificity.
DR   neXtProt; NX_Q7Z340; -.
DR   OpenTargets; ENSG00000204519; -.
DR   PharmGKB; PA134993781; -.
DR   VEuPathDB; HostDB:ENSG00000204519; -.
DR   eggNOG; KOG1721; Eukaryota.
DR   GeneTree; ENSGT00940000154693; -.
DR   HOGENOM; CLU_002678_44_5_1; -.
DR   InParanoid; Q7Z340; -.
DR   OMA; AFNCNYR; -.
DR   OrthoDB; 1318335at2759; -.
DR   PhylomeDB; Q7Z340; -.
DR   TreeFam; TF339848; -.
DR   PathwayCommons; Q7Z340; -.
DR   Reactome; R-HSA-212436; Generic Transcription Pathway.
DR   BioGRID-ORCS; 90233; 12 hits in 1103 CRISPR screens.
DR   ChiTaRS; ZNF551; human.
DR   GenomeRNAi; 90233; -.
DR   Pharos; Q7Z340; Tdark.
DR   PRO; PR:Q7Z340; -.
DR   Proteomes; UP000005640; Chromosome 19.
DR   RNAct; Q7Z340; protein.
DR   Bgee; ENSG00000204519; Expressed in buccal mucosa cell and 160 other tissues.
DR   ExpressionAtlas; Q7Z340; baseline and differential.
DR   Genevisible; Q7Z340; HS.
DR   GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR   GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; IBA:GO_Central.
DR   GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR   GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR   GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR   CDD; cd07765; KRAB_A-box; 1.
DR   InterPro; IPR001909; KRAB.
DR   InterPro; IPR036051; KRAB_dom_sf.
DR   InterPro; IPR036236; Znf_C2H2_sf.
DR   InterPro; IPR013087; Znf_C2H2_type.
DR   Pfam; PF01352; KRAB; 1.
DR   Pfam; PF00096; zf-C2H2; 12.
DR   SMART; SM00349; KRAB; 1.
DR   SMART; SM00355; ZnF_C2H2; 15.
DR   SUPFAM; SSF109640; SSF109640; 1.
DR   SUPFAM; SSF57667; SSF57667; 8.
DR   PROSITE; PS50805; KRAB; 1.
DR   PROSITE; PS00028; ZINC_FINGER_C2H2_1; 14.
DR   PROSITE; PS50157; ZINC_FINGER_C2H2_2; 16.
PE   1: Evidence at protein level;
KW   Alternative splicing; DNA-binding; Isopeptide bond; Metal-binding; Nucleus;
KW   Phosphoprotein; Reference proteome; Repeat; Transcription;
KW   Transcription regulation; Ubl conjugation; Zinc; Zinc-finger.
FT   CHAIN           1..670
FT                   /note="Zinc finger protein 551"
FT                   /id="PRO_0000047646"
FT   DOMAIN          29..100
FT                   /note="KRAB"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00119"
FT   ZN_FING         251..273
FT                   /note="C2H2-type 1"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         279..301
FT                   /note="C2H2-type 2"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         335..357
FT                   /note="C2H2-type 3"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         363..385
FT                   /note="C2H2-type 4"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         391..413
FT                   /note="C2H2-type 5"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         419..441
FT                   /note="C2H2-type 6"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         447..469
FT                   /note="C2H2-type 7"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         475..497
FT                   /note="C2H2-type 8"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         503..525
FT                   /note="C2H2-type 9"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         531..553
FT                   /note="C2H2-type 10"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         559..581
FT                   /note="C2H2-type 11"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         587..609
FT                   /note="C2H2-type 12"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         615..637
FT                   /note="C2H2-type 13"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         643..665
FT                   /note="C2H2-type 14"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   MOD_RES         126
FT                   /note="Phosphoserine"
FT                   /evidence="ECO:0007744|PubMed:23186163"
FT   CROSSLNK        319
FT                   /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT                   G-Cter in SUMO2)"
FT                   /evidence="ECO:0007744|PubMed:28112733"
FT   VAR_SEQ         1..73
FT                   /note="Missing (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:14702039,
FT                   ECO:0000303|PubMed:17974005"
FT                   /id="VSP_014799"
FT   VAR_SEQ         363..670
FT                   /note="Missing (in isoform 3)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_014800"
FT   VARIANT         218
FT                   /note="N -> S (in dbSNP:rs10413864)"
FT                   /id="VAR_028077"
FT   VARIANT         550
FT                   /note="R -> W (in dbSNP:rs12611105)"
FT                   /id="VAR_028078"
FT   CONFLICT        352
FT                   /note="E -> R (in Ref. 1; BAC03625)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        354
FT                   /note="Q -> R (in Ref. 1; BAC03625)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        359
FT                   /note="G -> E (in Ref. 1; BAC03625)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   670 AA;  77515 MW;  C6F4E60F4A00F3F1 CRC64;
     MPAPVGRRSP PSPRSSMAAV ALRDSAQGMT FEDVAIYFSQ EEWELLDESQ RFLYCDVMLE
     NFAHVTSLGY CHGMENEAIA SEQSVSIQVR TSKGNTPTQK THLSEIKMCV PVLKDILPAA
     EHQTTSPVQK SYLGSTSMRG FCFSADLHQH QKHYNEEEPW KRKVDEATFV TGCRFHVLNY
     FTCGEAFPAP TDLLQHEATP SGEEPHSSSS KHIQAFFNAK SYYKWGEYRK ASSHKHTLVQ
     HQSVCSEGGL YECSKCEKAF TCKNTLVQHQ QIHTGQKMFE CSECEESFSK KCHLILHKII
     HTGERPYECS DREKAFIHKS EFIHHQRRHT GGVRHECGEC RKTFSYKSNL IEHQRVHTGE
     RPYECGECGK SFRQSSSLFR HQRVHSGERP YQCCECGKSF RQIFNLIRHR RVHTGEMPYQ
     CSDCGKSFSC KSELIQHQRI HSGERPYECR ECGKSFRQFS NLIRHRSIHT GDRPYECSEC
     EKSFSRKFIL IQHQRVHTGE RPYECSECGK SFTRKSDLIQ HRRIHTGTRP YECSECGKSF
     RQRSGLIQHR RLHTGERPYE CSECGKSFSQ SASLIQHQRV HTGERPYECS ECGKSFSQSS
     SLIQHQRGHT GERPYECSQC GKPFTHKSDL IQHQRVHTGE RPYECSECGK SFSRKSNLIR
     HRRVHTEERP
 
 
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