ID ZN718_HUMAN Reviewed; 478 AA. AC Q3SXZ3; A0A075B7G5; A8WFQ3; Q3SXZ4; Q3SXZ5; DT 02-MAY-2006, integrated into UniProtKB/Swiss-Prot. DT 28-MAR-2018, sequence version 2. DT 28-JUN-2023, entry version 128. DE RecName: Full=Zinc finger protein 718; GN Name=ZNF718; 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] {ECO:0000312|Proteomes:UP000005640} RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=15815621; DOI=10.1038/nature03466; RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., RA Wilson R.K.; RT "Generation and annotation of the DNA sequences of human chromosomes 2 and RT 4."; RL Nature 434:724-731(2005). RN [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND VARIANT RP ARG-413. 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 -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=2; CC Name=1; CC IsoId=Q3SXZ3-1; Sequence=Displayed; CC Name=2; CC IsoId=Q3SXZ3-2; Sequence=VSP_018110; CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; AC253576; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; BC104026; AAI04027.1; -; mRNA. DR EMBL; BC104027; AAI04028.1; -; mRNA. DR EMBL; BC104028; AAI04029.1; -; mRNA. DR EMBL; BC104029; AAI04030.1; -; mRNA. DR EMBL; BC154406; AAI54407.1; -; mRNA. DR CCDS; CCDS75078.1; -. [Q3SXZ3-1] DR CCDS; CCDS75079.1; -. [Q3SXZ3-2] DR RefSeq; NP_001034216.2; NM_001039127.5. [Q3SXZ3-1] DR RefSeq; NP_001276859.1; NM_001289930.1. [Q3SXZ3-2] DR RefSeq; NP_001276860.1; NM_001289931.1. [Q3SXZ3-2] DR RefSeq; XP_016863468.1; XM_017007979.1. DR RefSeq; XP_016863469.1; XM_017007980.1. [Q3SXZ3-2] DR AlphaFoldDB; Q3SXZ3; -. DR SMR; Q3SXZ3; -. DR BioGRID; 129101; 13. DR IntAct; Q3SXZ3; 1. DR STRING; 9606.ENSP00000480556; -. DR GlyGen; Q3SXZ3; 1 site, 1 O-linked glycan (1 site). DR iPTMnet; Q3SXZ3; -. DR PhosphoSitePlus; Q3SXZ3; -. DR BioMuta; ZNF718; -. DR DMDM; 94730683; -. DR EPD; Q3SXZ3; -. DR jPOST; Q3SXZ3; -. DR MassIVE; Q3SXZ3; -. DR PeptideAtlas; Q3SXZ3; -. DR ProteomicsDB; 61826; -. [Q3SXZ3-1] DR ProteomicsDB; 61827; -. [Q3SXZ3-2] DR Antibodypedia; 73438; 27 antibodies from 9 providers. DR DNASU; 255403; -. DR Ensembl; ENST00000510175.6; ENSP00000480556.1; ENSG00000250312.8. [Q3SXZ3-1] DR Ensembl; ENST00000609714.1; ENSP00000476435.1; ENSG00000250312.8. [Q3SXZ3-2] DR GeneID; 255403; -. DR KEGG; hsa:255403; -. DR MANE-Select; ENST00000510175.6; ENSP00000480556.1; NM_001039127.6; NP_001034216.2. DR UCSC; uc032tae.2; human. DR AGR; HGNC:26889; -. DR CTD; 255403; -. DR GeneCards; ZNF718; -. DR HGNC; HGNC:26889; ZNF718. DR HPA; ENSG00000250312; Low tissue specificity. DR MIM; 618405; gene. DR neXtProt; NX_Q3SXZ3; -. DR OpenTargets; ENSG00000250312; -. DR PharmGKB; PA143485682; -. DR VEuPathDB; HostDB:ENSG00000250312; -. DR eggNOG; KOG1721; Eukaryota. DR GeneTree; ENSGT00940000161765; -. DR InParanoid; Q3SXZ3; -. DR OMA; RKTCKSV; -. DR OrthoDB; 3120079at2759; -. DR PhylomeDB; Q3SXZ3; -. DR PathwayCommons; Q3SXZ3; -. DR Reactome; R-HSA-212436; Generic Transcription Pathway. DR SignaLink; Q3SXZ3; -. DR BioGRID-ORCS; 255403; 4 hits in 178 CRISPR screens. DR ChiTaRS; ZNF718; human. DR GenomeRNAi; 255403; -. DR Pharos; Q3SXZ3; Tdark. DR PRO; PR:Q3SXZ3; -. DR Proteomes; UP000005640; Chromosome 4. DR RNAct; Q3SXZ3; protein. DR Bgee; ENSG00000250312; Expressed in adrenal tissue and 117 other tissues. DR ExpressionAtlas; Q3SXZ3; baseline and differential. 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: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:0006355; P:regulation of DNA-templated transcription; IBA:GO_Central. DR CDD; cd07765; KRAB_A-box; 1. DR Gene3D; 6.10.140.140; -; 1. DR Gene3D; 3.30.160.60; Classic Zinc Finger; 11. DR InterPro; IPR001909; KRAB. DR InterPro; IPR036051; KRAB_dom_sf. DR InterPro; IPR036236; Znf_C2H2_sf. DR InterPro; IPR013087; Znf_C2H2_type. DR PANTHER; PTHR24384; FINGER PUTATIVE TRANSCRIPTION FACTOR FAMILY-RELATED; 1. DR PANTHER; PTHR24384:SF208; ZINC FINGER PROTEIN 718; 1. DR Pfam; PF01352; KRAB; 1. DR Pfam; PF00096; zf-C2H2; 9. DR Pfam; PF13912; zf-C2H2_6; 1. DR SMART; SM00349; KRAB; 1. DR SMART; SM00355; ZnF_C2H2; 11. DR SUPFAM; SSF57667; beta-beta-alpha zinc fingers; 6. DR SUPFAM; SSF109640; KRAB domain (Kruppel-associated box); 1. DR PROSITE; PS50805; KRAB; 1. DR PROSITE; PS00028; ZINC_FINGER_C2H2_1; 11. DR PROSITE; PS50157; ZINC_FINGER_C2H2_2; 11. 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..478 FT /note="Zinc finger protein 718" FT /id="PRO_0000233286" FT DOMAIN 4..75 FT /note="KRAB" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00119" FT ZN_FING 171..193 FT /note="C2H2-type 1" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042" FT ZN_FING 199..221 FT /note="C2H2-type 2" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042" FT ZN_FING 227..249 FT /note="C2H2-type 3" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042" FT ZN_FING 255..277 FT /note="C2H2-type 4" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042" FT ZN_FING 283..305 FT /note="C2H2-type 5" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042" FT ZN_FING 311..333 FT /note="C2H2-type 6" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042" FT ZN_FING 339..361 FT /note="C2H2-type 7" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042" FT ZN_FING 367..389 FT /note="C2H2-type 8" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042" FT ZN_FING 395..417 FT /note="C2H2-type 9" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042" FT ZN_FING 423..445 FT /note="C2H2-type 10" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042" FT ZN_FING 451..473 FT /note="C2H2-type 11" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042" FT VAR_SEQ 1..32 FT /note="Missing (in isoform 2)" FT /evidence="ECO:0000303|PubMed:15489334" FT /id="VSP_018110" FT VARIANT 140 FT /note="K -> N (in dbSNP:rs9684215)" FT /id="VAR_059933" FT VARIANT 140 FT /note="K -> R (in dbSNP:rs9684214)" FT /id="VAR_059934" FT VARIANT 297 FT /note="S -> Y (in dbSNP:rs7677201)" FT /id="VAR_059935" FT VARIANT 413 FT /note="H -> R (in dbSNP:rs7440274)" FT /evidence="ECO:0000269|PubMed:15489334" FT /id="VAR_059936" FT CONFLICT 23 FT /note="T -> I (in Ref. 2; AAI04030)" FT /evidence="ECO:0000305" FT CONFLICT 46 FT /note="S -> T (in Ref. 2; AAI04027/AAI04029/AAI04030)" FT /evidence="ECO:0000305" SQ SEQUENCE 478 AA; 55359 MW; 8362FA9A3A982FFD CRC64; MELLTFKDVA IEFSPEEWKC LDTSQQNLYR DVMLENYRNL VSLGVSISNP DLVTSLEQRK EPYNLKIHET AARPPAVCSH FTQNLWTVQG IEDSFHKLIP KGHEKRGHEN LRKTCKSINE CKVQKGGYNR INQCLLTTQK KTIQSNICVK VFHKFSNSNK DKIRYTGDKT FKCKECGKSF HVLSRLTQHK RIHTGENPYT CEECGKAFNW SSILTKHKRI HAREKFYKCE ECGKGFTRSS HLTKHKRIHT GEKPYICEKC GKAFNQSSTL NLHKRIHSAQ KYYKCEECGK AFKWSSSLNE HKRIHAGEKP FSCEECGNVF TTSSDFAKHK RIHTGEKPYK CEECGKSFNR STTLTTHKRI HTGEKPYTCE ECGKAFNWSS TLNVHKRIHS GKNPYKCEDC GKAFKVFANL HNHKKIHTGE KPYICKQCGK AFKQSSHLNK HKKIHTVDKP YKCKECGKAF KQYSNLPQHK RTHTGGKF //