ZN614_HUMAN
ID ZN614_HUMAN Reviewed; 585 AA.
AC Q8N883; Q494T8; Q8TCF4; Q9BSN8;
DT 16-MAY-2006, integrated into UniProtKB/Swiss-Prot.
DT 16-MAY-2006, sequence version 2.
DT 03-AUG-2022, entry version 159.
DE RecName: Full=Zinc finger protein 614;
GN Name=ZNF614;
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 1).
RC TISSUE=Spleen;
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 GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton 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 (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Placenta, and Uterus;
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 -!- INTERACTION:
CC Q8N883; Q8IZU0: FAM9B; NbExp=3; IntAct=EBI-9675993, EBI-10175124;
CC Q8N883; Q14938: NFIX; NbExp=3; IntAct=EBI-9675993, EBI-8476987;
CC Q8N883; P14079: tax; Xeno; NbExp=3; IntAct=EBI-9675993, EBI-9675698;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8N883-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8N883-2; Sequence=VSP_056549, VSP_056550;
CC -!- SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein
CC family. {ECO:0000305}.
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DR EMBL; AK097156; BAC04966.1; -; mRNA.
DR EMBL; AC011468; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471135; EAW72058.1; -; Genomic_DNA.
DR EMBL; BC004930; AAH04930.1; -; mRNA.
DR EMBL; BC022246; AAH22246.1; -; mRNA.
DR EMBL; BC101392; AAI01393.1; -; mRNA.
DR EMBL; BC101393; AAI01394.1; -; mRNA.
DR EMBL; BC101394; AAI01395.1; -; mRNA.
DR EMBL; BC101395; AAI01396.1; -; mRNA.
DR CCDS; CCDS12847.1; -. [Q8N883-1]
DR RefSeq; NP_079316.2; NM_025040.3. [Q8N883-1]
DR AlphaFoldDB; Q8N883; -.
DR SMR; Q8N883; -.
DR BioGRID; 123116; 5.
DR IntAct; Q8N883; 4.
DR MINT; Q8N883; -.
DR STRING; 9606.ENSP00000270649; -.
DR CarbonylDB; Q8N883; -.
DR iPTMnet; Q8N883; -.
DR PhosphoSitePlus; Q8N883; -.
DR BioMuta; ZNF614; -.
DR DMDM; 97219309; -.
DR EPD; Q8N883; -.
DR jPOST; Q8N883; -.
DR MassIVE; Q8N883; -.
DR MaxQB; Q8N883; -.
DR PaxDb; Q8N883; -.
DR PeptideAtlas; Q8N883; -.
DR PRIDE; Q8N883; -.
DR ProteomicsDB; 72381; -. [Q8N883-1]
DR ProteomicsDB; 78918; -.
DR Antibodypedia; 21569; 132 antibodies from 17 providers.
DR DNASU; 80110; -.
DR Ensembl; ENST00000270649.11; ENSP00000270649.5; ENSG00000142556.19. [Q8N883-1]
DR Ensembl; ENST00000356322.10; ENSP00000348674.5; ENSG00000142556.19. [Q8N883-2]
DR GeneID; 80110; -.
DR KEGG; hsa:80110; -.
DR MANE-Select; ENST00000270649.11; ENSP00000270649.5; NM_025040.4; NP_079316.2.
DR UCSC; uc002pyi.5; human. [Q8N883-1]
DR CTD; 80110; -.
DR DisGeNET; 80110; -.
DR GeneCards; ZNF614; -.
DR HGNC; HGNC:24722; ZNF614.
DR HPA; ENSG00000142556; Low tissue specificity.
DR neXtProt; NX_Q8N883; -.
DR OpenTargets; ENSG00000142556; -.
DR PharmGKB; PA134914044; -.
DR VEuPathDB; HostDB:ENSG00000142556; -.
DR eggNOG; KOG1721; Eukaryota.
DR GeneTree; ENSGT00940000162748; -.
DR HOGENOM; CLU_002678_69_0_1; -.
DR InParanoid; Q8N883; -.
DR OMA; NICIQEN; -.
DR OrthoDB; 1318335at2759; -.
DR PhylomeDB; Q8N883; -.
DR TreeFam; TF350804; -.
DR PathwayCommons; Q8N883; -.
DR Reactome; R-HSA-212436; Generic Transcription Pathway.
DR SignaLink; Q8N883; -.
DR BioGRID-ORCS; 80110; 8 hits in 1096 CRISPR screens.
DR GenomeRNAi; 80110; -.
DR Pharos; Q8N883; Tdark.
DR PRO; PR:Q8N883; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q8N883; protein.
DR Bgee; ENSG00000142556; Expressed in buccal mucosa cell and 165 other tissues.
DR ExpressionAtlas; Q8N883; baseline and differential.
DR Genevisible; Q8N883; 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:0001227; F:DNA-binding transcription repressor activity, RNA polymerase II-specific; IBA:GO_Central.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0000977; F:RNA polymerase II transcription regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; 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; 9.
DR SMART; SM00349; KRAB; 1.
DR SMART; SM00355; ZnF_C2H2; 11.
DR SUPFAM; SSF109640; SSF109640; 1.
DR SUPFAM; SSF57667; SSF57667; 7.
DR PROSITE; PS50805; KRAB; 1.
DR PROSITE; PS00028; ZINC_FINGER_C2H2_1; 10.
DR PROSITE; PS50157; ZINC_FINGER_C2H2_2; 11.
PE 1: Evidence at protein level;
KW Alternative splicing; DNA-binding; Metal-binding; Nucleus;
KW Reference proteome; Repeat; Transcription; Transcription regulation; Zinc;
KW Zinc-finger.
FT CHAIN 1..585
FT /note="Zinc finger protein 614"
FT /id="PRO_0000234598"
FT DOMAIN 8..79
FT /note="KRAB"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00119"
FT ZN_FING 205..227
FT /note="C2H2-type 1; atypical"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 257..281
FT /note="C2H2-type 2; degenerate"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 287..309
FT /note="C2H2-type 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 315..337
FT /note="C2H2-type 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 343..365
FT /note="C2H2-type 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 371..393
FT /note="C2H2-type 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 399..421
FT /note="C2H2-type 7"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 427..449
FT /note="C2H2-type 8"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 455..477
FT /note="C2H2-type 9"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 483..505
FT /note="C2H2-type 10"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 511..533
FT /note="C2H2-type 11"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 539..561
FT /note="C2H2-type 12"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT VAR_SEQ 161..198
FT /note="GEKTLLHGKHERTHTKTRFSENAKCIHTKFQVFKHQRT -> ETGSLERPRQ
FT ADHLRSEVQDQPGQRGETLCLLKIHTKN (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_056549"
FT VAR_SEQ 199..585
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_056550"
FT VARIANT 68
FT /note="T -> I (in dbSNP:rs9636139)"
FT /id="VAR_052878"
FT VARIANT 160
FT /note="G -> E (in dbSNP:rs45596739)"
FT /id="VAR_061959"
FT VARIANT 223
FT /note="H -> R (in dbSNP:rs35098634)"
FT /id="VAR_052879"
FT VARIANT 415
FT /note="V -> I (in dbSNP:rs8104890)"
FT /id="VAR_052880"
FT CONFLICT 250
FT /note="L -> P (in Ref. 1; BAC04966)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 585 AA; 67215 MW; 761FFD8B035CDAA4 CRC64;
MIKTQESLTL EDVAVEFSWE EWQLLDTAQK NLYRDVMVEN YNHLVSLGYQ TSKPDVLSKL
AHGQEPWTTD AKIQNKNCPG IGKVDSHLQE HSPNQRLLKS VQQCNGQNTL RNIVHLSKTH
FPIVQNHDTF DLYRKNLKSS LSLINQKRRH GINNPVEFIG GEKTLLHGKH ERTHTKTRFS
ENAKCIHTKF QVFKHQRTQK IEKPHACIEC EQTFLRKSQL IYHENICIQE NPGSGQCEKL
SRSVLFTKHL KTNTTDKICI PNEYRKGSTV KSSLITHQQT HTEEKSYMCS ECGKGFTMKR
YLIAHQRTHS GEKPYVCKEC GKGFTVKSNL IVHQRTHTGE KPYICSECGK GFTMKRYLVV
HQRTHTGEKP YMCSECGKGF TVKSNLIVHQ RSHTGEKSYI CSECGKGFTV KRTLVIHQRT
HTGEKSYICN ECGKGFTTKR TLIIHQRTHT GEKPYECNEC GKAFSQKICL IQHERCHTGK
TPFVCTECGK SYSHKYGLIT HQRIHTGEKP YECNECGKAF TTKSVLNVHQ RTHTGERPYG
CSDCEKAFSH LSNLVKHKKM HTREMGRISQ VENSCNGESQ LLPYK
