ZN680_HUMAN
ID ZN680_HUMAN Reviewed; 530 AA.
AC Q8NEM1; B3KVJ4; Q6ZNF3; Q8NC79;
DT 02-MAY-2006, integrated into UniProtKB/Swiss-Prot.
DT 17-OCT-2006, sequence version 2.
DT 03-AUG-2022, entry version 164.
DE RecName: Full=Zinc finger protein 680;
GN Name=ZNF680;
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).
RC TISSUE=Brain, Teratocarcinoma, and Testis;
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].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANTS GLY-330
RP AND ASP-525.
RC TISSUE=Testis;
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).
RN [5]
RP SUMOYLATION [LARGE SCALE ANALYSIS] AT LYS-264, AND IDENTIFICATION BY MASS
RP SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=28112733; DOI=10.1038/nsmb.3366;
RA Hendriks I.A., Lyon D., Young C., Jensen L.J., Vertegaal A.C.,
RA Nielsen M.L.;
RT "Site-specific mapping of the human SUMO proteome reveals co-modification
RT with phosphorylation.";
RL Nat. Struct. Mol. Biol. 24:325-336(2017).
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=Q8NEM1-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8NEM1-2; Sequence=VSP_043114, VSP_043115;
CC -!- SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein
CC family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC11286.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AK074911; BAC11286.1; ALT_INIT; mRNA.
DR EMBL; AK122937; BAG53806.1; -; mRNA.
DR EMBL; AK131240; BAD18422.1; -; mRNA.
DR EMBL; AC016769; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471204; EAW77970.1; -; Genomic_DNA.
DR EMBL; CH471204; EAW77971.1; -; Genomic_DNA.
DR EMBL; BC030700; AAH30700.1; -; mRNA.
DR CCDS; CCDS34644.1; -. [Q8NEM1-1]
DR CCDS; CCDS47594.1; -. [Q8NEM1-2]
DR RefSeq; NP_001123494.1; NM_001130022.1. [Q8NEM1-2]
DR RefSeq; NP_848653.2; NM_178558.4. [Q8NEM1-1]
DR RefSeq; XP_016867615.1; XM_017012126.1.
DR RefSeq; XP_016867616.1; XM_017012127.1.
DR RefSeq; XP_016867617.1; XM_017012128.1.
DR AlphaFoldDB; Q8NEM1; -.
DR SMR; Q8NEM1; -.
DR IntAct; Q8NEM1; 1.
DR STRING; 9606.ENSP00000309330; -.
DR iPTMnet; Q8NEM1; -.
DR PhosphoSitePlus; Q8NEM1; -.
DR BioMuta; ZNF680; -.
DR DMDM; 116242865; -.
DR EPD; Q8NEM1; -.
DR jPOST; Q8NEM1; -.
DR MassIVE; Q8NEM1; -.
DR PaxDb; Q8NEM1; -.
DR PeptideAtlas; Q8NEM1; -.
DR PRIDE; Q8NEM1; -.
DR ProteomicsDB; 73179; -. [Q8NEM1-1]
DR Antibodypedia; 28107; 99 antibodies from 19 providers.
DR DNASU; 340252; -.
DR Ensembl; ENST00000309683.11; ENSP00000309330.6; ENSG00000173041.12. [Q8NEM1-1]
DR Ensembl; ENST00000447137.2; ENSP00000393506.2; ENSG00000173041.12. [Q8NEM1-2]
DR GeneID; 340252; -.
DR KEGG; hsa:340252; -.
DR MANE-Select; ENST00000309683.11; ENSP00000309330.6; NM_178558.5; NP_848653.2.
DR UCSC; uc003tta.3; human. [Q8NEM1-1]
DR CTD; 340252; -.
DR GeneCards; ZNF680; -.
DR HGNC; HGNC:26897; ZNF680.
DR HPA; ENSG00000173041; Low tissue specificity.
DR neXtProt; NX_Q8NEM1; -.
DR OpenTargets; ENSG00000173041; -.
DR PharmGKB; PA142670481; -.
DR VEuPathDB; HostDB:ENSG00000173041; -.
DR eggNOG; KOG1721; Eukaryota.
DR GeneTree; ENSGT01050000244908; -.
DR HOGENOM; CLU_002678_44_0_1; -.
DR InParanoid; Q8NEM1; -.
DR OMA; PEHRIKD; -.
DR OrthoDB; 1318335at2759; -.
DR PhylomeDB; Q8NEM1; -.
DR TreeFam; TF342117; -.
DR PathwayCommons; Q8NEM1; -.
DR Reactome; R-HSA-212436; Generic Transcription Pathway.
DR SignaLink; Q8NEM1; -.
DR BioGRID-ORCS; 340252; 18 hits in 1073 CRISPR screens.
DR ChiTaRS; ZNF680; human.
DR GenomeRNAi; 340252; -.
DR Pharos; Q8NEM1; Tdark.
DR PRO; PR:Q8NEM1; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; Q8NEM1; protein.
DR Bgee; ENSG00000173041; Expressed in calcaneal tendon and 178 other tissues.
DR Genevisible; Q8NEM1; 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; 12.
DR SUPFAM; SSF109640; SSF109640; 1.
DR SUPFAM; SSF57667; SSF57667; 7.
DR PROSITE; PS50805; KRAB; 1.
DR PROSITE; PS00028; ZINC_FINGER_C2H2_1; 12.
DR PROSITE; PS50157; ZINC_FINGER_C2H2_2; 12.
PE 1: Evidence at protein level;
KW Alternative splicing; DNA-binding; Isopeptide bond; Metal-binding; Nucleus;
KW Reference proteome; Repeat; Transcription; Transcription regulation;
KW Ubl conjugation; Zinc; Zinc-finger.
FT CHAIN 1..530
FT /note="Zinc finger protein 680"
FT /id="PRO_0000234000"
FT DOMAIN 13..84
FT /note="KRAB"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00119"
FT ZN_FING 182..204
FT /note="C2H2-type 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 210..232
FT /note="C2H2-type 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 238..260
FT /note="C2H2-type 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 266..288
FT /note="C2H2-type 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 294..316
FT /note="C2H2-type 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 322..344
FT /note="C2H2-type 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 350..372
FT /note="C2H2-type 7"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 378..400
FT /note="C2H2-type 8"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 406..428
FT /note="C2H2-type 9"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 434..456
FT /note="C2H2-type 10"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 462..484
FT /note="C2H2-type 11"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 490..512
FT /note="C2H2-type 12"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT CROSSLNK 264
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO2)"
FT /evidence="ECO:0007744|PubMed:28112733"
FT VAR_SEQ 85..123
FT /note="VIYSHFTEDLWPEHSIKDSFQKVILRGYGKCGHENLQLR -> ESYCVAQAD
FT LELLVSSYLTALASLKMWDYRNNPLCQATM (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_043114"
FT VAR_SEQ 124..530
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_043115"
FT VARIANT 132
FT /note="S -> F (in dbSNP:rs11768951)"
FT /id="VAR_027892"
FT VARIANT 330
FT /note="D -> G (in dbSNP:rs17856885)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_027893"
FT VARIANT 525
FT /note="N -> D (in dbSNP:rs17852813)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_027894"
SQ SEQUENCE 530 AA; 61798 MW; BB9AC6FFA50B0A04 CRC64;
MPGPPGSLEM GPLTFRDVAI EFSLEEWQCL DTAQRNLYRK VMFENYRNLV FLGIAVSKPH
LITCLEQGKE PWNRKRQEMV AKPPVIYSHF TEDLWPEHSI KDSFQKVILR GYGKCGHENL
QLRISCKSVD ESKVFKEGYN ELNQCLRTTQ SKIFQCDKYV KVFHKFSNSN SHKKRNTGKK
VFKCKECGKS FCMLSHLTQH IRIHTRENSY KCEECGKVLN WFSELIKHKG IHMGEKPYKC
EECGKAFNQS STLIKHKKIH IEEKPFKCEE CGKAFSLFSI LSKHKIIHTG DKPYKCDECH
KAFNWFATLT NHKRIHTGEK PFKCEECGKD FNQFSNLTKH KKIHTGEKPY KCEECGKAFN
QFANLTRHKK IHTGEKSYKC EECGKAFIQS SNLTEHMRIH TGEKPYKCEE CGKAFNGCSS
LTRHKRIHTR ENTYKCEECG KGFTLFSTLT NHKVIHTGEK SYKCDECGNV FNWPATLANH
KRIHAREKPY KCEECGKAFN RSSHLTRHKK IHTGEKLYKP EKCDNNFDNT
