ZN681_HUMAN
ID ZN681_HUMAN Reviewed; 645 AA.
AC Q96N22; B3KVF7;
DT 02-OCT-2007, integrated into UniProtKB/Swiss-Prot.
DT 05-OCT-2010, sequence version 2.
DT 03-AUG-2022, entry version 165.
DE RecName: Full=Zinc finger protein 681;
GN Name=ZNF681;
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), AND VARIANTS HIS-84;
RP SER-295 AND LYS-367.
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] OF 1-189 (ISOFORM 2), AND VARIANT
RP HIS-84.
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. {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q96N22-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96N22-2; Sequence=VSP_039878;
CC -!- SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein
CC family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BC062216; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};
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DR EMBL; AK056088; BAB71090.1; -; mRNA.
DR EMBL; AK122869; BAG53769.1; -; mRNA.
DR EMBL; AC073544; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC139769; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC062216; -; NOT_ANNOTATED_CDS; mRNA.
DR CCDS; CCDS12414.2; -. [Q96N22-1]
DR RefSeq; NP_612143.2; NM_138286.2. [Q96N22-1]
DR AlphaFoldDB; Q96N22; -.
DR SMR; Q96N22; -.
DR STRING; 9606.ENSP00000384000; -.
DR iPTMnet; Q96N22; -.
DR PhosphoSitePlus; Q96N22; -.
DR BioMuta; ZNF681; -.
DR DMDM; 308153533; -.
DR jPOST; Q96N22; -.
DR MassIVE; Q96N22; -.
DR MaxQB; Q96N22; -.
DR PaxDb; Q96N22; -.
DR PeptideAtlas; Q96N22; -.
DR PRIDE; Q96N22; -.
DR ProteomicsDB; 77456; -. [Q96N22-1]
DR ProteomicsDB; 77457; -. [Q96N22-2]
DR Antibodypedia; 28767; 50 antibodies from 11 providers.
DR DNASU; 148213; -.
DR Ensembl; ENST00000402377.3; ENSP00000384000.3; ENSG00000196172.9. [Q96N22-1]
DR GeneID; 148213; -.
DR KEGG; hsa:148213; -.
DR MANE-Select; ENST00000402377.3; ENSP00000384000.3; NM_138286.3; NP_612143.2.
DR UCSC; uc002nrk.4; human. [Q96N22-1]
DR CTD; 148213; -.
DR GeneCards; ZNF681; -.
DR HGNC; HGNC:26457; ZNF681.
DR HPA; ENSG00000196172; Low tissue specificity.
DR neXtProt; NX_Q96N22; -.
DR OpenTargets; ENSG00000196172; -.
DR PharmGKB; PA142670482; -.
DR VEuPathDB; HostDB:ENSG00000196172; -.
DR eggNOG; KOG1721; Eukaryota.
DR GeneTree; ENSGT00940000154251; -.
DR HOGENOM; CLU_002678_17_1_1; -.
DR InParanoid; Q96N22; -.
DR OMA; LYKPKRC; -.
DR OrthoDB; 1318335at2759; -.
DR PhylomeDB; Q96N22; -.
DR TreeFam; TF342117; -.
DR PathwayCommons; Q96N22; -.
DR Reactome; R-HSA-212436; Generic Transcription Pathway.
DR BioGRID-ORCS; 148213; 18 hits in 1060 CRISPR screens.
DR ChiTaRS; ZNF681; human.
DR GenomeRNAi; 148213; -.
DR Pharos; Q96N22; Tdark.
DR PRO; PR:Q96N22; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q96N22; protein.
DR Bgee; ENSG00000196172; Expressed in ganglionic eminence and 110 other tissues.
DR ExpressionAtlas; Q96N22; baseline and differential.
DR Genevisible; Q96N22; 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; 12.
DR SMART; SM00349; KRAB; 1.
DR SMART; SM00355; ZnF_C2H2; 16.
DR SUPFAM; SSF109640; SSF109640; 1.
DR SUPFAM; SSF57667; SSF57667; 10.
DR PROSITE; PS50805; KRAB; 1.
DR PROSITE; PS00028; ZINC_FINGER_C2H2_1; 10.
DR PROSITE; PS50157; ZINC_FINGER_C2H2_2; 16.
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..645
FT /note="Zinc finger protein 681"
FT /id="PRO_0000305137"
FT DOMAIN 4..75
FT /note="KRAB"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00119"
FT ZN_FING 142..164
FT /note="C2H2-type 1; degenerate"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 198..220
FT /note="C2H2-type 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 226..248
FT /note="C2H2-type 3; degenerate"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 254..276
FT /note="C2H2-type 4; degenerate"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 282..304
FT /note="C2H2-type 5; degenerate"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 310..332
FT /note="C2H2-type 6; degenerate"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 338..360
FT /note="C2H2-type 7"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 366..388
FT /note="C2H2-type 8"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 394..416
FT /note="C2H2-type 9"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 422..444
FT /note="C2H2-type 10"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 450..472
FT /note="C2H2-type 11"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 478..500
FT /note="C2H2-type 12"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 506..528
FT /note="C2H2-type 13"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 534..556
FT /note="C2H2-type 14"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 562..584
FT /note="C2H2-type 15"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 590..612
FT /note="C2H2-type 16"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT REGION 626..645
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..69
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_039878"
FT VARIANT 84
FT /note="D -> H (in dbSNP:rs7248674)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_035167"
FT VARIANT 295
FT /note="L -> S (in dbSNP:rs1818989)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_035168"
FT VARIANT 367
FT /note="R -> K (in dbSNP:rs1818990)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_063679"
FT VARIANT 548
FT /note="H -> Q (in dbSNP:rs1852433)"
FT /id="VAR_063680"
FT CONFLICT 98
FT /note="V -> A (in Ref. 1; BAG53769)"
FT /evidence="ECO:0000305"
FT CONFLICT 134
FT /note="L -> S (in Ref. 3; BC062216)"
FT /evidence="ECO:0000305"
FT CONFLICT 188
FT /note="H -> Q (in Ref. 3; BC062216)"
FT /evidence="ECO:0000305"
FT CONFLICT 224
FT /note="K -> R (in Ref. 1; BAG53769)"
FT /evidence="ECO:0000305"
FT CONFLICT 282
FT /note="Y -> C (in Ref. 1; BAG53769)"
FT /evidence="ECO:0000305"
FT CONFLICT 485
FT /note="K -> R (in Ref. 1; BAG53769)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 645 AA; 75059 MW; 05B30D15368A1B3B CRC64;
MEPLKFRDVA IEFSLEEWQC LDTIQQNLYR NVMLENYRNL VFLGIVVSKP DLITCLEQEK
EPWTRKRHRM VAEPPVICSH FAQDFSPEQN IKDSFQKVTP RRYGKCEHEN LQLSKSVDEC
KVQKGGYNGL NQCLPTTQSK IFQCDKYMKI FHKFSNLNGH KVRHTRKKPF KYKEFGKSFC
IFSNLTQHKI ICTRVNFYKC EDCGKAFNGS SIFTKHKRIH IGEKSYICEE CGKACNQFTN
LTTHKIIYTR DKLYKREECS KAFNLSSHIT THTIIHTGEN PYKREECDKA FNQSLTLTTH
KIIHTREKLN EYKECGKAFN QSSHLTRHKI IHTGEKPYKC EECGKAFNQS SHLTRHKIIH
TGEKPYRCEE CGKAFRQSSH LTTHKIIHTG EKPYKCEECG KAFNKSSHLT RHKSIHTGEK
PYQCEKCGKA SNQSSNLTEH KNIHTEEKPY KCEECGKAFN QFSNLTTHKR IHTGEKPYKC
EECGKAFNQS SILTTHKRIH TGEKSYKCEE CGKAFYRSSK LTEHKKIHTG EKPYTCEECG
KAFNHSSHLA THKVIHTGEK PYQCEECGKA FNQSSHLTRH KRIHTGEKPY QCEKCGKAFN
QSSNLTGHKK IHTGEKLYKP KRCNSDFENT SKFSKHKRNY AGEKS
