ZN789_HUMAN
ID ZN789_HUMAN Reviewed; 425 AA.
AC Q5FWF6; A4D282; A6NH61; Q6ZMZ9;
DT 10-JUL-2007, integrated into UniProtKB/Swiss-Prot.
DT 10-JUL-2007, sequence version 3.
DT 03-AUG-2022, entry version 151.
DE RecName: Full=Zinc finger protein 789;
GN Name=ZNF789;
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=Spleen;
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=12853948; DOI=10.1038/nature01782;
RA Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H.,
RA Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K.,
RA Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A.,
RA Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H., Sun H.,
RA Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A.,
RA Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P.,
RA Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M.,
RA Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S.,
RA Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R.,
RA Strowmatt C., Latreille P., Miller N., Johnson D., Murray J.,
RA Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W.,
RA Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A.,
RA Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E.,
RA Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E.,
RA Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A.,
RA Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A.,
RA Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R.,
RA McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H.,
RA Wilson R.K.;
RT "The DNA sequence of human chromosome 7.";
RL Nature 424:157-164(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12690205; DOI=10.1126/science.1083423;
RA Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K.,
RA Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R.,
RA Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A.,
RA Kanematsu E., Gentles S., Christopoulos C.C., Choufani S., Kwasnicka D.,
RA Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S.,
RA Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R.,
RA Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N.,
RA Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E.,
RA Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R.,
RA Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T.,
RA Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W.,
RA Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A.,
RA Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X.,
RA Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E.,
RA Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H.,
RA Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J.,
RA Adams M.D., Tsui L.-C.;
RT "Human chromosome 7: DNA sequence and biology.";
RL Science 300:767-772(2003).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT ALA-77.
RC TISSUE=Lymph;
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 Q5FWF6; Q96MH2: HEXIM2; NbExp=3; IntAct=EBI-13076752, EBI-5460660;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q5FWF6-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5FWF6-2; Sequence=VSP_026561;
CC Name=3;
CC IsoId=Q5FWF6-3; Sequence=VSP_046816, VSP_046817;
CC -!- SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein
CC family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=EAL23876.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
CC -!- SEQUENCE CAUTION: [Isoform 2]:
CC Sequence=BAD18576.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AK131429; BAD18576.1; ALT_FRAME; mRNA.
DR EMBL; AC073063; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH236956; EAL23875.1; -; Genomic_DNA.
DR EMBL; CH236956; EAL23876.1; ALT_SEQ; Genomic_DNA.
DR EMBL; BC089424; AAH89424.2; -; mRNA.
DR CCDS; CCDS34693.1; -. [Q5FWF6-1]
DR CCDS; CCDS34694.1; -. [Q5FWF6-3]
DR RefSeq; NP_001013276.1; NM_001013258.1. [Q5FWF6-3]
DR RefSeq; NP_998768.2; NM_213603.2. [Q5FWF6-1]
DR RefSeq; XP_011514375.1; XM_011516073.2. [Q5FWF6-2]
DR RefSeq; XP_016867507.1; XM_017012018.1. [Q5FWF6-1]
DR RefSeq; XP_016867514.1; XM_017012025.1.
DR RefSeq; XP_016867515.1; XM_017012026.1.
DR RefSeq; XP_016867516.1; XM_017012027.1.
DR AlphaFoldDB; Q5FWF6; -.
DR SMR; Q5FWF6; -.
DR BioGRID; 130267; 2.
DR IntAct; Q5FWF6; 1.
DR STRING; 9606.ENSP00000331927; -.
DR iPTMnet; Q5FWF6; -.
DR PhosphoSitePlus; Q5FWF6; -.
DR BioMuta; ZNF789; -.
DR DMDM; 152112419; -.
DR EPD; Q5FWF6; -.
DR jPOST; Q5FWF6; -.
DR MassIVE; Q5FWF6; -.
DR MaxQB; Q5FWF6; -.
DR PaxDb; Q5FWF6; -.
DR PeptideAtlas; Q5FWF6; -.
DR PRIDE; Q5FWF6; -.
DR ProteomicsDB; 1182; -.
DR ProteomicsDB; 62816; -. [Q5FWF6-1]
DR ProteomicsDB; 62817; -. [Q5FWF6-2]
DR Antibodypedia; 30371; 19 antibodies from 8 providers.
DR DNASU; 285989; -.
DR Ensembl; ENST00000331410.10; ENSP00000331927.5; ENSG00000198556.14. [Q5FWF6-1]
DR Ensembl; ENST00000379724.3; ENSP00000369047.3; ENSG00000198556.14. [Q5FWF6-3]
DR GeneID; 285989; -.
DR KEGG; hsa:285989; -.
DR MANE-Select; ENST00000331410.10; ENSP00000331927.5; NM_213603.3; NP_998768.2.
DR UCSC; uc003uqp.4; human. [Q5FWF6-1]
DR CTD; 285989; -.
DR DisGeNET; 285989; -.
DR GeneCards; ZNF789; -.
DR HGNC; HGNC:27801; ZNF789.
DR HPA; ENSG00000198556; Low tissue specificity.
DR neXtProt; NX_Q5FWF6; -.
DR OpenTargets; ENSG00000198556; -.
DR PharmGKB; PA162410492; -.
DR VEuPathDB; HostDB:ENSG00000198556; -.
DR eggNOG; KOG1721; Eukaryota.
DR GeneTree; ENSGT00940000163495; -.
DR HOGENOM; CLU_002678_0_7_1; -.
DR InParanoid; Q5FWF6; -.
DR OMA; HKQCHPQ; -.
DR OrthoDB; 1318335at2759; -.
DR PhylomeDB; Q5FWF6; -.
DR TreeFam; TF337055; -.
DR PathwayCommons; Q5FWF6; -.
DR SignaLink; Q5FWF6; -.
DR BioGRID-ORCS; 285989; 15 hits in 1098 CRISPR screens.
DR ChiTaRS; ZNF789; human.
DR GenomeRNAi; 285989; -.
DR Pharos; Q5FWF6; Tdark.
DR PRO; PR:Q5FWF6; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; Q5FWF6; protein.
DR Bgee; ENSG00000198556; Expressed in cerebellar hemisphere and 143 other tissues.
DR ExpressionAtlas; Q5FWF6; baseline and differential.
DR Genevisible; Q5FWF6; HS.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
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; 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..425
FT /note="Zinc finger protein 789"
FT /id="PRO_0000293697"
FT DOMAIN 11..82
FT /note="KRAB"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00119"
FT ZN_FING 201..223
FT /note="C2H2-type 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 229..251
FT /note="C2H2-type 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 257..279
FT /note="C2H2-type 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 285..307
FT /note="C2H2-type 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 313..335
FT /note="C2H2-type 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 341..363
FT /note="C2H2-type 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 369..391
FT /note="C2H2-type 7"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 397..419
FT /note="C2H2-type 8"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT VAR_SEQ 1..95
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_026561"
FT VAR_SEQ 51..62
FT /note="GFQFPKPEMICQ -> VYFQFDAAIPLC (in isoform 3)"
FT /evidence="ECO:0000305"
FT /id="VSP_046816"
FT VAR_SEQ 63..425
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000305"
FT /id="VSP_046817"
FT VARIANT 77
FT /note="T -> A (in dbSNP:rs6962772)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_052903"
FT CONFLICT 398
FT /note="Q -> R (in Ref. 1; BAD18576)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 425 AA; 49984 MW; 00BF9778A9340CFA CRC64;
MFPPARGKEL LSFEDVAMYF TREEWGHLNW GQKDLYRDVM LENYRNMVLL GFQFPKPEMI
CQLENWDEQW ILDLPRTGNR KASGSACPGS EARHKMKKLT PKQKFSEDLE SYKISVVMQE
SAEKLSEKLH KCKEFVDSCR LTFPTSGDEY SRGFLQNLNL IQDQNAQTRW KQGRYDEDGK
PFNQRSLLLG HERILTRAKS YECSECGKVI RRKAWFDQHQ RIHFLENPFE CKVCGQAFRQ
RSALTVHKQC HLQNKPYRCH DCGKCFRQLA YLVEHKRIHT KEKPYKCSKC EKTFSQNSTL
IRHQVIHSGE KRHKCLECGK AFGRHSTLLC HQQIHSKPNT HKCSECGQSF GRNVDLIQHQ
RIHTKEEFFQ CGECGKTFSF KRNLFRHQVI HTGSQPYQCV ICGKSFKWHT SFIKHQGTHK
GQIST