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 01-MAY-2013, entry version 97.
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;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), AND NUCLEOTIDE
RP SEQUENCE [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.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA 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.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., 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.,
RA Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K.,
RA Ottenwaelder B., Poustka A., 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.,
RA Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M.,
RA Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E.,
RA Caenepeel S., Carrano A.V., Caoile C., Chan Y.M., Christensen M.,
RA Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C.,
RA Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M.,
RA Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T.,
RA Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H.,
RA Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S.,
RA Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J.,
RA Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M.,
RA Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J.,
RA Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D.,
RA Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A.,
RA Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I.,
RA 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
RT project: 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).
CC -!- FUNCTION: May be involved in transcriptional regulation.
CC -!- SUBCELLULAR LOCATION: Nucleus (Probable).
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 Note=No experimental confirmation available;
CC Name=3;
CC IsoId=Q7Z340-3; Sequence=VSP_014800;
CC Note=No experimental confirmation available;
CC -!- SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein
CC family.
CC -!- SIMILARITY: Contains 14 C2H2-type zinc fingers.
CC -!- SIMILARITY: Contains 1 KRAB domain.
CC -!- CAUTION: It is uncertain whether Met-1 or Met-17 is the initiator.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH05868.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
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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 IPI; IPI00157058; -.
DR IPI; IPI00383924; -.
DR IPI; IPI00719468; -.
DR PIR; I37963; I37963.
DR RefSeq; NP_001257867.1; NM_001270938.1.
DR RefSeq; NP_612356.2; NM_138347.4.
DR UniGene; Hs.109540; -.
DR ProteinModelPortal; Q7Z340; -.
DR STRING; 9606.ENSP00000282296; -.
DR PhosphoSite; Q7Z340; -.
DR DMDM; 116242860; -.
DR PaxDb; Q7Z340; -.
DR PRIDE; Q7Z340; -.
DR Ensembl; ENST00000282296; ENSP00000282296; ENSG00000204519.
DR Ensembl; ENST00000356715; ENSP00000349149; ENSG00000204519.
DR GeneID; 90233; -.
DR KEGG; hsa:90233; -.
DR UCSC; uc002qpv.4; human.
DR CTD; 90233; -.
DR GeneCards; GC19P058194; -.
DR HGNC; HGNC:25108; ZNF551.
DR HPA; HPA038188; -.
DR neXtProt; NX_Q7Z340; -.
DR PharmGKB; PA134993781; -.
DR eggNOG; COG5048; -.
DR HOGENOM; HOG000234617; -.
DR HOVERGEN; HBG018163; -.
DR InParanoid; Q7Z340; -.
DR KO; K09228; -.
DR OMA; HQSVCSE; -.
DR OrthoDB; EOG43R3M3; -.
DR Reactome; REACT_71; Gene Expression.
DR GenomeRNAi; 90233; -.
DR NextBio; 76611; -.
DR Bgee; Q7Z340; -.
DR CleanEx; HS_ZNF551; -.
DR Genevestigator; Q7Z340; -.
DR GermOnline; ENSG00000204519; Homo sapiens.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0003677; F:DNA binding; IEA:UniProtKB-KW.
DR GO; GO:0008270; F:zinc ion binding; IEA:InterPro.
DR GO; GO:0006355; P:regulation of transcription, DNA-dependent; IEA:UniProtKB-KW.
DR GO; GO:0006351; P:transcription, DNA-dependent; IEA:UniProtKB-KW.
DR Gene3D; 3.30.160.60; -; 15.
DR InterPro; IPR001909; Krueppel-associated_box.
DR InterPro; IPR007087; Znf_C2H2.
DR InterPro; IPR015880; Znf_C2H2-like.
DR InterPro; IPR013087; Znf_C2H2/integrase_DNA-bd.
DR Pfam; PF01352; KRAB; 1.
DR SMART; SM00349; KRAB; 1.
DR SMART; SM00355; ZnF_C2H2; 15.
DR SUPFAM; SSF109640; Krueppel-associated_box; 1.
DR PROSITE; PS50805; KRAB; 1.
DR PROSITE; PS00028; ZINC_FINGER_C2H2_1; 14.
DR PROSITE; PS50157; ZINC_FINGER_C2H2_2; 16.
PE 2: Evidence at transcript level;
KW Alternative splicing; Complete proteome; DNA-binding; Metal-binding;
KW Nucleus; Polymorphism; Reference proteome; Repeat; Transcription;
KW Transcription regulation; Zinc; Zinc-finger.
FT CHAIN 1 670 Zinc finger protein 551.
FT /FTId=PRO_0000047646.
FT DOMAIN 29 100 KRAB.
FT ZN_FING 251 273 C2H2-type 1.
FT ZN_FING 279 301 C2H2-type 2.
FT ZN_FING 335 357 C2H2-type 3.
FT ZN_FING 363 385 C2H2-type 4.
FT ZN_FING 391 413 C2H2-type 5.
FT ZN_FING 419 441 C2H2-type 6.
FT ZN_FING 447 469 C2H2-type 7.
FT ZN_FING 475 497 C2H2-type 8.
FT ZN_FING 503 525 C2H2-type 9.
FT ZN_FING 531 553 C2H2-type 10.
FT ZN_FING 559 581 C2H2-type 11.
FT ZN_FING 587 609 C2H2-type 12.
FT ZN_FING 615 637 C2H2-type 13.
FT ZN_FING 643 665 C2H2-type 14.
FT VAR_SEQ 1 73 Missing (in isoform 2).
FT /FTId=VSP_014799.
FT VAR_SEQ 363 670 Missing (in isoform 3).
FT /FTId=VSP_014800.
FT VARIANT 218 218 N -> S (in dbSNP:rs10413864).
FT /FTId=VAR_028077.
FT VARIANT 550 550 R -> W (in dbSNP:rs12611105).
FT /FTId=VAR_028078.
FT CONFLICT 352 352 E -> R (in Ref. 1; BAC03625).
FT CONFLICT 354 354 Q -> R (in Ref. 1; BAC03625).
FT CONFLICT 359 359 G -> E (in Ref. 1; BAC03625).
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
//
