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ZN793_HUMAN
ID   ZN793_HUMAN             Reviewed;         406 AA.
AC   Q6ZN11; E9PGN4; Q7Z3Q9;
DT   10-JUL-2007, integrated into UniProtKB/Swiss-Prot.
DT   24-JUL-2013, sequence version 2.
DT   03-AUG-2022, entry version 150.
DE   RecName: Full=Zinc finger protein 793;
GN   Name=ZNF793;
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 2).
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 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   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC   TISSUE=Retina;
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).
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=Q6ZN11-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q6ZN11-2; Sequence=VSP_026565;
CC       Name=3;
CC         IsoId=Q6ZN11-3; Sequence=VSP_026564;
CC   -!- SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein
CC       family. {ECO:0000305}.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=CAD97772.1; Type=Frameshift; Evidence={ECO:0000305};
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DR   EMBL; AK131417; BAD18564.1; -; mRNA.
DR   EMBL; AC022148; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; BX537524; CAD97772.1; ALT_FRAME; mRNA.
DR   CCDS; CCDS46062.1; -. [Q6ZN11-1]
DR   RefSeq; NP_001013681.2; NM_001013659.2. [Q6ZN11-1]
DR   RefSeq; XP_005258984.1; XM_005258927.3. [Q6ZN11-1]
DR   RefSeq; XP_006723276.1; XM_006723213.3. [Q6ZN11-1]
DR   AlphaFoldDB; Q6ZN11; -.
DR   SMR; Q6ZN11; -.
DR   BioGRID; 133738; 2.
DR   IntAct; Q6ZN11; 2.
DR   MINT; Q6ZN11; -.
DR   STRING; 9606.ENSP00000396402; -.
DR   iPTMnet; Q6ZN11; -.
DR   PhosphoSitePlus; Q6ZN11; -.
DR   BioMuta; ZNF793; -.
DR   DMDM; 527504072; -.
DR   MassIVE; Q6ZN11; -.
DR   MaxQB; Q6ZN11; -.
DR   PaxDb; Q6ZN11; -.
DR   PeptideAtlas; Q6ZN11; -.
DR   PRIDE; Q6ZN11; -.
DR   ProteomicsDB; 67955; -. [Q6ZN11-2]
DR   Antibodypedia; 29906; 39 antibodies from 12 providers.
DR   DNASU; 390927; -.
DR   Ensembl; ENST00000445217.5; ENSP00000396402.1; ENSG00000188227.14. [Q6ZN11-1]
DR   Ensembl; ENST00000587143.5; ENSP00000468605.1; ENSG00000188227.14. [Q6ZN11-1]
DR   Ensembl; ENST00000627814.3; ENSP00000487183.2; ENSG00000188227.14. [Q6ZN11-1]
DR   GeneID; 390927; -.
DR   KEGG; hsa:390927; -.
DR   MANE-Select; ENST00000627814.3; ENSP00000487183.2; NM_001013659.3; NP_001013681.2.
DR   UCSC; uc010xts.3; human. [Q6ZN11-1]
DR   CTD; 390927; -.
DR   DisGeNET; 390927; -.
DR   GeneCards; ZNF793; -.
DR   HGNC; HGNC:33115; ZNF793.
DR   HPA; ENSG00000188227; Low tissue specificity.
DR   neXtProt; NX_Q6ZN11; -.
DR   OpenTargets; ENSG00000188227; -.
DR   PharmGKB; PA162410548; -.
DR   VEuPathDB; HostDB:ENSG00000188227; -.
DR   eggNOG; KOG1721; Eukaryota.
DR   GeneTree; ENSGT00940000163141; -.
DR   HOGENOM; CLU_002678_0_9_1; -.
DR   InParanoid; Q6ZN11; -.
DR   OMA; LGCHCWE; -.
DR   OrthoDB; 1318335at2759; -.
DR   PhylomeDB; Q6ZN11; -.
DR   TreeFam; TF340838; -.
DR   PathwayCommons; Q6ZN11; -.
DR   Reactome; R-HSA-212436; Generic Transcription Pathway.
DR   SignaLink; Q6ZN11; -.
DR   BioGRID-ORCS; 390927; 11 hits in 1102 CRISPR screens.
DR   ChiTaRS; ZNF793; human.
DR   GenomeRNAi; 390927; -.
DR   Pharos; Q6ZN11; Tdark.
DR   PRO; PR:Q6ZN11; -.
DR   Proteomes; UP000005640; Chromosome 19.
DR   RNAct; Q6ZN11; protein.
DR   Bgee; ENSG00000188227; Expressed in cortical plate and 189 other tissues.
DR   ExpressionAtlas; Q6ZN11; baseline and differential.
DR   Genevisible; Q6ZN11; 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; 6.
DR   SMART; SM00349; KRAB; 1.
DR   SMART; SM00355; ZnF_C2H2; 6.
DR   SUPFAM; SSF109640; SSF109640; 1.
DR   SUPFAM; SSF57667; SSF57667; 3.
DR   PROSITE; PS50805; KRAB; 1.
DR   PROSITE; PS00028; ZINC_FINGER_C2H2_1; 6.
DR   PROSITE; PS50157; ZINC_FINGER_C2H2_2; 6.
PE   2: Evidence at transcript level;
KW   Alternative splicing; DNA-binding; Metal-binding; Nucleus;
KW   Reference proteome; Repeat; Transcription; Transcription regulation; Zinc;
KW   Zinc-finger.
FT   CHAIN           1..406
FT                   /note="Zinc finger protein 793"
FT                   /id="PRO_0000293699"
FT   DOMAIN          8..79
FT                   /note="KRAB"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00119"
FT   ZN_FING         227..249
FT                   /note="C2H2-type 1"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         255..277
FT                   /note="C2H2-type 2"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         283..305
FT                   /note="C2H2-type 3"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         311..333
FT                   /note="C2H2-type 4"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         339..361
FT                   /note="C2H2-type 5"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         367..389
FT                   /note="C2H2-type 6"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   VAR_SEQ         1..94
FT                   /note="Missing (in isoform 3)"
FT                   /evidence="ECO:0000303|PubMed:17974005"
FT                   /id="VSP_026564"
FT   VAR_SEQ         362..406
FT                   /note="TGEKPYGCNECGKAFYQKPNLSRHQKIHARKNAYRNENLIIVGNT -> FGE
FT                   SSLRSKSSNT (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_026565"
FT   VARIANT         68
FT                   /note="I -> M (in dbSNP:rs12977460)"
FT                   /id="VAR_033107"
FT   VARIANT         133
FT                   /note="I -> V (in dbSNP:rs45593644)"
FT                   /id="VAR_061967"
FT   CONFLICT        45
FT                   /note="V -> A (in Ref. 1; BAD18564)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   406 AA;  46927 MW;  3A037ABF2ACBF1C2 CRC64;
     MIEYQIPVSF KDVVVGFTQE EWHRLSPAQR ALYRDVMLET YSNLVSVGYE GTKPDVILRL
     EQEEAPWIGE AACPGCHCWE DIWRVNIQRK RRQDMLLRPG AAISKKTLPK EKSCEYNKFG
     KISLLSTDLF SSIQSPSNWN PCGKNLNHNL DLIGFKRNCA KKQDECYAYG KLLQRINHGR
     RPNGEKPRGC SHCEKAFTQN PALMYKPAVS DSLLYKRKRV PPTEKPHVCS ECGKAFCYKS
     EFIRHQRSHT GEKPYGCTDC GKAFSHKSTL IKHQRIHTGV RPFECFFCGK AFTQKSHRTE
     HQRTHTGERP FVCSECGKSF GEKSYLNVHR KMHTGERPYR CRECGKSFSQ KSCLNKHWRT
     HTGEKPYGCN ECGKAFYQKP NLSRHQKIHA RKNAYRNENL IIVGNT
 
 
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