ZN682_HUMAN
ID ZN682_HUMAN Reviewed; 498 AA.
AC O95780; B3KU64; E9PFJ5; Q96JV9;
DT 02-MAY-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-MAY-1999, sequence version 1.
DT 03-AUG-2022, entry version 165.
DE RecName: Full=Zinc finger protein 682;
GN Name=ZNF682;
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] (ISOFORMS 1 AND 2), NUCLEOTIDE
RP SEQUENCE [LARGE SCALE MRNA] OF 1-137 (ISOFORM 3), AND VARIANT ILE-209.
RC TISSUE=Brain, Fetal brain, and Placenta;
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).
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=O95780-1; Sequence=Displayed;
CC Name=2;
CC IsoId=O95780-2; Sequence=VSP_018166;
CC Name=3;
CC IsoId=O95780-3; Sequence=VSP_044563;
CC -!- SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein
CC family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB55408.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AK027845; BAB55408.1; ALT_FRAME; mRNA.
DR EMBL; AK096571; BAG53326.1; -; mRNA.
DR EMBL; DA787253; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AC006539; AAD14472.1; -; Genomic_DNA.
DR CCDS; CCDS42533.1; -. [O95780-1]
DR CCDS; CCDS42534.1; -. [O95780-3]
DR RefSeq; NP_149973.1; NM_033196.2. [O95780-1]
DR RefSeq; XP_016882945.1; XM_017027456.1. [O95780-2]
DR AlphaFoldDB; O95780; -.
DR SMR; O95780; -.
DR BioGRID; 124796; 2.
DR IntAct; O95780; 1.
DR STRING; 9606.ENSP00000380351; -.
DR iPTMnet; O95780; -.
DR PhosphoSitePlus; O95780; -.
DR BioMuta; ZNF682; -.
DR EPD; O95780; -.
DR jPOST; O95780; -.
DR MassIVE; O95780; -.
DR MaxQB; O95780; -.
DR PaxDb; O95780; -.
DR PeptideAtlas; O95780; -.
DR PRIDE; O95780; -.
DR ProteomicsDB; 20119; -.
DR ProteomicsDB; 51041; -. [O95780-1]
DR ProteomicsDB; 51042; -. [O95780-2]
DR Antibodypedia; 8003; 164 antibodies from 23 providers.
DR DNASU; 91120; -.
DR Ensembl; ENST00000358523.9; ENSP00000351324.5; ENSG00000197124.12. [O95780-3]
DR Ensembl; ENST00000397162.5; ENSP00000380348.1; ENSG00000197124.12. [O95780-3]
DR Ensembl; ENST00000397165.7; ENSP00000380351.1; ENSG00000197124.12. [O95780-1]
DR Ensembl; ENST00000595736.1; ENSP00000471717.1; ENSG00000197124.12. [O95780-2]
DR GeneID; 91120; -.
DR KEGG; hsa:91120; -.
DR MANE-Select; ENST00000397165.7; ENSP00000380351.1; NM_033196.3; NP_149973.1.
DR UCSC; uc002noo.3; human. [O95780-1]
DR CTD; 91120; -.
DR DisGeNET; 91120; -.
DR GeneCards; ZNF682; -.
DR HGNC; HGNC:28857; ZNF682.
DR HPA; ENSG00000197124; Low tissue specificity.
DR neXtProt; NX_O95780; -.
DR OpenTargets; ENSG00000197124; -.
DR PharmGKB; PA142670483; -.
DR VEuPathDB; HostDB:ENSG00000197124; -.
DR eggNOG; KOG1721; Eukaryota.
DR GeneTree; ENSGT00940000154251; -.
DR HOGENOM; CLU_002678_0_2_1; -.
DR InParanoid; O95780; -.
DR OMA; HTAIKRY; -.
DR PhylomeDB; O95780; -.
DR TreeFam; TF342117; -.
DR PathwayCommons; O95780; -.
DR Reactome; R-HSA-212436; Generic Transcription Pathway.
DR SignaLink; O95780; -.
DR BioGRID-ORCS; 91120; 16 hits in 1095 CRISPR screens.
DR ChiTaRS; ZNF682; human.
DR GenomeRNAi; 91120; -.
DR Pharos; O95780; Tdark.
DR PRO; PR:O95780; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; O95780; protein.
DR Bgee; ENSG00000197124; Expressed in oocyte and 157 other tissues.
DR ExpressionAtlas; O95780; baseline and differential.
DR Genevisible; O95780; 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: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; 8.
DR SMART; SM00349; KRAB; 1.
DR SMART; SM00355; ZnF_C2H2; 11.
DR SUPFAM; SSF109640; SSF109640; 1.
DR SUPFAM; SSF57667; SSF57667; 8.
DR PROSITE; PS50805; KRAB; 1.
DR PROSITE; PS00028; ZINC_FINGER_C2H2_1; 10.
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..498
FT /note="Zinc finger protein 682"
FT /id="PRO_0000234001"
FT DOMAIN 4..75
FT /note="KRAB"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00119"
FT ZN_FING 173..195
FT /note="C2H2-type 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 201..223
FT /note="C2H2-type 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 229..251
FT /note="C2H2-type 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 257..279
FT /note="C2H2-type 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 285..307
FT /note="C2H2-type 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 313..335
FT /note="C2H2-type 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 341..363
FT /note="C2H2-type 7"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 369..391
FT /note="C2H2-type 8"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 397..419
FT /note="C2H2-type 9"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 425..447
FT /note="C2H2-type 10"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 453..475
FT /note="C2H2-type 11; degenerate"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT VAR_SEQ 1..76
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_018166"
FT VAR_SEQ 1..32
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_044563"
FT VARIANT 65
FT /note="V -> M (in dbSNP:rs7255165)"
FT /id="VAR_052891"
FT VARIANT 209
FT /note="T -> I (in dbSNP:rs2075090)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_052892"
FT VARIANT 450
FT /note="V -> I (in dbSNP:rs17679334)"
FT /id="VAR_052893"
SQ SEQUENCE 498 AA; 58361 MW; 77993708F2E809BD CRC64;
MELLTFRDVT IEFSLEEWEF LNPAQQSLYR KVMLENYRNL VSLGLTVSKP ELISRLEQRQ
EPWNVKRHET IAKPPAMSSH YTEDLLPEQC MQDSFQKVIL RRYGSCGLED LHLRKDGENV
GECKDQKEIY NGLNQCLSTL PSKIFPYNKC VKVFSKSSNL NRENIRHTTE KLFKCMQCGK
VFKSHSGLSY HKIIHTEEKL CICEECGKTF KWFSYLTKHK RIHTGEKPYK CEECGKAFNW
CSSLTKHKRI HTGEKPYKCE ECGKAFHWCS PFVRHKKIHT GEKPYTCEDC GRAFNRHSHL
TKHKTIHTGK KPYKCKECGK AFNHCSLLTI HERTHTGEKP YKCEECGKAF NSSSILTEHK
VIHSGEKPYK CEKCDKVFKR FSYLTKHKRI HTGEKPYKCE ECGKAFNWSS ILTEHKRIHT
GEKPYNCEEC GKAFNRCSHL TRHKKIHTAV KRYKCEECGK AFKRCSHLNE HKRVQRGEKS
CKYKKCGEAF NHCSNLTT
