ZN718_HUMAN
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 03-AUG-2022, entry version 123.
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;
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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. [Q3SXZ3-2]
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 iPTMnet; Q3SXZ3; -.
DR PhosphoSitePlus; Q3SXZ3; -.
DR BioMuta; ZNF718; -.
DR DMDM; 94730683; -.
DR EPD; Q3SXZ3; -.
DR jPOST; Q3SXZ3; -.
DR MassIVE; Q3SXZ3; -.
DR PeptideAtlas; Q3SXZ3; -.
DR PRIDE; Q3SXZ3; -.
DR ProteomicsDB; 61826; -. [Q3SXZ3-1]
DR ProteomicsDB; 61827; -. [Q3SXZ3-2]
DR Antibodypedia; 73438; 23 antibodies from 8 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 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 PhylomeDB; Q3SXZ3; -.
DR PathwayCommons; Q3SXZ3; -.
DR Reactome; R-HSA-212436; Generic Transcription Pathway.
DR SignaLink; Q3SXZ3; -.
DR BioGRID-ORCS; 255403; 3 hits in 134 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 transcription, DNA-templated; 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; 9.
DR SMART; SM00349; KRAB; 1.
DR SMART; SM00355; ZnF_C2H2; 11.
DR SUPFAM; SSF109640; SSF109640; 1.
DR SUPFAM; SSF57667; SSF57667; 6.
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
