ZN550_HUMAN
ID ZN550_HUMAN Reviewed; 422 AA.
AC Q7Z398; B3KVF6; O43337; Q7Z6D7; Q8NE45;
DT 16-MAY-2006, integrated into UniProtKB/Swiss-Prot.
DT 16-MAY-2006, sequence version 2.
DT 03-AUG-2022, entry version 154.
DE RecName: Full=Zinc finger protein 550;
GN Name=ZNF550;
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 1), AND VARIANT THR-359.
RC TISSUE=Brain;
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 1), AND VARIANT THR-359.
RC TISSUE=Endometrial tumor;
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), AND VARIANT THR-359.
RC TISSUE=Testis;
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).
CC -!- FUNCTION: May be involved in transcriptional regulation.
CC -!- INTERACTION:
CC Q7Z398; Q04864: REL; NbExp=3; IntAct=EBI-10256834, EBI-307352;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q7Z398-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q7Z398-2; Sequence=VSP_018380;
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-10 is the initiator.
CC {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH34810.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=AAH53858.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AK122867; BAG53768.1; -; mRNA.
DR EMBL; BX538032; CAD97977.1; -; mRNA.
DR EMBL; AC003682; AAC24606.1; -; Genomic_DNA.
DR EMBL; BC034810; AAH34810.1; ALT_INIT; mRNA.
DR EMBL; BC053858; AAH53858.1; ALT_INIT; mRNA.
DR CCDS; CCDS35500.2; -. [Q7Z398-1]
DR RefSeq; NP_001264019.1; NM_001277090.1. [Q7Z398-1]
DR RefSeq; NP_001264020.1; NM_001277091.1. [Q7Z398-1]
DR RefSeq; NP_001264021.1; NM_001277092.1. [Q7Z398-1]
DR RefSeq; NP_001264022.1; NM_001277093.1.
DR RefSeq; XP_011524869.1; XM_011526567.2. [Q7Z398-1]
DR RefSeq; XP_011524870.1; XM_011526568.2.
DR RefSeq; XP_016881890.1; XM_017026401.1.
DR AlphaFoldDB; Q7Z398; -.
DR SMR; Q7Z398; -.
DR BioGRID; 127836; 66.
DR IntAct; Q7Z398; 32.
DR STRING; 9606.ENSP00000446224; -.
DR iPTMnet; Q7Z398; -.
DR PhosphoSitePlus; Q7Z398; -.
DR BioMuta; ZNF550; -.
DR DMDM; 97219074; -.
DR jPOST; Q7Z398; -.
DR MassIVE; Q7Z398; -.
DR PeptideAtlas; Q7Z398; -.
DR PRIDE; Q7Z398; -.
DR ProteomicsDB; 69017; -. [Q7Z398-1]
DR ProteomicsDB; 69018; -. [Q7Z398-2]
DR Antibodypedia; 47752; 128 antibodies from 20 providers.
DR DNASU; 162972; -.
DR Ensembl; ENST00000376230.7; ENSP00000469537.1; ENSG00000251369.9. [Q7Z398-1]
DR Ensembl; ENST00000447310.5; ENSP00000469580.1; ENSG00000251369.9. [Q7Z398-1]
DR Ensembl; ENST00000457177.5; ENSP00000469679.1; ENSG00000251369.9. [Q7Z398-1]
DR GeneID; 162972; -.
DR KEGG; hsa:162972; -.
DR UCSC; uc002qpc.5; human. [Q7Z398-1]
DR CTD; 162972; -.
DR GeneCards; ZNF550; -.
DR HGNC; HGNC:28643; ZNF550.
DR HPA; ENSG00000251369; Low tissue specificity.
DR neXtProt; NX_Q7Z398; -.
DR OpenTargets; ENSG00000251369; -.
DR PharmGKB; PA134937679; -.
DR VEuPathDB; HostDB:ENSG00000251369; -.
DR eggNOG; KOG1721; Eukaryota.
DR GeneTree; ENSGT00940000163313; -.
DR HOGENOM; CLU_002678_0_9_1; -.
DR InParanoid; Q7Z398; -.
DR OMA; CERDPQG; -.
DR OrthoDB; 1318335at2759; -.
DR PhylomeDB; Q7Z398; -.
DR PathwayCommons; Q7Z398; -.
DR Reactome; R-HSA-212436; Generic Transcription Pathway.
DR SignaLink; Q7Z398; -.
DR BioGRID-ORCS; 162972; 9 hits in 1096 CRISPR screens.
DR ChiTaRS; ZNF550; human.
DR GenomeRNAi; 162972; -.
DR Pharos; Q7Z398; Tdark.
DR PRO; PR:Q7Z398; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q7Z398; protein.
DR Bgee; ENSG00000251369; Expressed in endothelial cell and 162 other tissues.
DR ExpressionAtlas; Q7Z398; baseline and differential.
DR Genevisible; Q7Z398; HS.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; IBA:GO_Central.
DR GO; GO:0001227; F:DNA-binding transcription repressor activity, RNA polymerase II-specific; IBA:GO_Central.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0000977; F:RNA polymerase II transcription regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; 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; 6.
DR SMART; SM00349; KRAB; 1.
DR SMART; SM00355; ZnF_C2H2; 8.
DR SUPFAM; SSF109640; SSF109640; 1.
DR SUPFAM; SSF57667; SSF57667; 5.
DR PROSITE; PS50805; KRAB; 1.
DR PROSITE; PS00028; ZINC_FINGER_C2H2_1; 8.
DR PROSITE; PS50157; ZINC_FINGER_C2H2_2; 8.
PE 1: Evidence at protein level;
KW Alternative splicing; DNA-binding; Metal-binding; Nucleus;
KW Reference proteome; Repeat; Transcription; Transcription regulation; Zinc;
KW Zinc-finger.
FT CHAIN 1..422
FT /note="Zinc finger protein 550"
FT /id="PRO_0000234585"
FT DOMAIN 12..83
FT /note="KRAB"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00119"
FT ZN_FING 203..225
FT /note="C2H2-type 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 231..253
FT /note="C2H2-type 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 259..281
FT /note="C2H2-type 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 287..309
FT /note="C2H2-type 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 315..337
FT /note="C2H2-type 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 343..365
FT /note="C2H2-type 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 371..393
FT /note="C2H2-type 7"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 399..421
FT /note="C2H2-type 8"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT REGION 113..158
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 121..155
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 53..84
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000305"
FT /id="VSP_018380"
FT VARIANT 359
FT /note="I -> T (in dbSNP:rs1548476)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005"
FT /id="VAR_026294"
FT CONFLICT 329
FT /note="H -> R (in Ref. 4; AAH34810)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 422 AA; 48381 MW; 16217CD2FB9357B2 CRC64;
MAETKDAAQM LVTFKDVAVT FTREEWRQLD LAQRTLYREV MLETCGLLVS LGHRVPKPEL
VHLLEHGQEL WIVKRGLSHA TCAGDRAQVH TREPTTYPPV LSERAFLRGS LTLESSTSSD
SRLGRARDEE GLLEMQKGKV TPETDLHKET HLGKVSLEGE GLGTDDGLHS RALQEWLSAD
VLHECDSQQP GKDALIHAGT NPYKCKQCGK GFNRKWYLVR HQRVHTGMKP YECNACGKAF
SQSSTLIRHY LIHTGEKPYK CLECGKAFKR RSYLMQHHPI HTGEKPYECS QCRKAFTHRS
TFIRHNRTHT GEKPFECKEC EKAFSNRAHL IQHYIIHTGE KPYDCMACGK AFRCSSELIQ
HQRIHTGEKP YECTQCGKAF HRSTYLIQHS VIHTGEMPYK CIECGKAFKR RSHLLQHQRV
HT
