ZN714_HUMAN
ID ZN714_HUMAN Reviewed; 554 AA.
AC Q96N38; Q49AI1; Q86W65; Q8ND40;
DT 29-APR-2008, integrated into UniProtKB/Swiss-Prot.
DT 24-JUL-2013, sequence version 3.
DT 25-MAY-2022, entry version 159.
DE RecName: Full=Zinc finger protein 714;
GN Name=ZNF714;
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), AND VARIANT ARG-331.
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 MRNA] (ISOFORM 2), AND VARIANT ARG-331.
RC TISSUE=Brain;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [3]
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3), AND VARIANT
RP ARG-331.
RC TISSUE=Brain, and 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).
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=Q96N38-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96N38-2; Sequence=VSP_033320, VSP_033321;
CC Name=3;
CC IsoId=Q96N38-3; Sequence=VSP_033319;
CC -!- SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein
CC family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH50468.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC Sequence=CAD39077.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AK056006; BAB71072.1; -; mRNA.
DR EMBL; AL834415; CAD39077.1; ALT_INIT; mRNA.
DR EMBL; AC010620; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC012627; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC037782; AAH37782.1; -; mRNA.
DR EMBL; BC050468; AAH50468.2; ALT_INIT; mRNA.
DR RefSeq; NP_872321.2; NM_182515.3.
DR AlphaFoldDB; Q96N38; -.
DR SMR; Q96N38; -.
DR BioGRID; 127129; 13.
DR IntAct; Q96N38; 4.
DR STRING; 9606.ENSP00000478345; -.
DR iPTMnet; Q96N38; -.
DR PhosphoSitePlus; Q96N38; -.
DR BioMuta; ZNF714; -.
DR DMDM; 527504073; -.
DR jPOST; Q96N38; -.
DR MassIVE; Q96N38; -.
DR PaxDb; Q96N38; -.
DR PeptideAtlas; Q96N38; -.
DR PRIDE; Q96N38; -.
DR ProteomicsDB; 77461; -. [Q96N38-1]
DR ProteomicsDB; 77462; -. [Q96N38-2]
DR ProteomicsDB; 77463; -. [Q96N38-3]
DR DNASU; 148206; -.
DR GeneID; 148206; -.
DR KEGG; hsa:148206; -.
DR CTD; 148206; -.
DR GeneCards; ZNF714; -.
DR HGNC; HGNC:27124; ZNF714.
DR neXtProt; NX_Q96N38; -.
DR PharmGKB; PA143485680; -.
DR eggNOG; KOG1721; Eukaryota.
DR InParanoid; Q96N38; -.
DR OrthoDB; 1318335at2759; -.
DR PhylomeDB; Q96N38; -.
DR TreeFam; TF342117; -.
DR PathwayCommons; Q96N38; -.
DR Reactome; R-HSA-212436; Generic Transcription Pathway.
DR SignaLink; Q96N38; -.
DR BioGRID-ORCS; 148206; 18 hits in 1027 CRISPR screens.
DR ChiTaRS; ZNF714; human.
DR GenomeRNAi; 148206; -.
DR Pharos; Q96N38; Tdark.
DR PRO; PR:Q96N38; -.
DR Proteomes; UP000005640; Unplaced.
DR RNAct; Q96N38; protein.
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 InterPro; IPR001909; KRAB.
DR InterPro; IPR036236; Znf_C2H2_sf.
DR InterPro; IPR013087; Znf_C2H2_type.
DR Pfam; PF00096; zf-C2H2; 12.
DR SMART; SM00349; KRAB; 1.
DR SMART; SM00355; ZnF_C2H2; 13.
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; 14.
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..554
FT /note="Zinc finger protein 714"
FT /id="PRO_0000331749"
FT DOMAIN 1..47
FT /note="KRAB"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00119"
FT ZN_FING 116..138
FT /note="C2H2-type 1; degenerate"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 144..166
FT /note="C2H2-type 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 172..194
FT /note="C2H2-type 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 200..222
FT /note="C2H2-type 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 228..250
FT /note="C2H2-type 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 256..278
FT /note="C2H2-type 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 284..306
FT /note="C2H2-type 7"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 312..334
FT /note="C2H2-type 8"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 340..362
FT /note="C2H2-type 9"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 368..390
FT /note="C2H2-type 10"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 396..418
FT /note="C2H2-type 11"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 424..446
FT /note="C2H2-type 12"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 452..474
FT /note="C2H2-type 13"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 480..502
FT /note="C2H2-type 14; degenerate"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT VAR_SEQ 1..154
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_033319"
FT VAR_SEQ 516..523
FT /note="RGLGEQIA -> GGQGRWIT (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_033320"
FT VAR_SEQ 524..554
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_033321"
FT VARIANT 331
FT /note="K -> R (in dbSNP:rs2884554)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005"
FT /id="VAR_042936"
FT VARIANT 472
FT /note="I -> V (in dbSNP:rs10427116)"
FT /id="VAR_057448"
FT VARIANT 473
FT /note="I -> V (in dbSNP:rs10427116)"
FT /id="VAR_042937"
FT CONFLICT 102
FT /note="Y -> YN (in Ref. 1; BAB71072, 2; CAD39077 and 4;
FT AAH50468)"
FT /evidence="ECO:0000305"
FT CONFLICT 513
FT /note="N -> S (in Ref. 2; CAD39077)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 554 AA; 63883 MW; 09150D7B5CF383C4 CRC64;
MNVMLENYKN LVFLAGIAVS KQDPITSLEQ EKEPWNMKIC EMVDESPAMC SSFTRDLWPE
QDIKDSFQQV ILRRHGKCEH ENLQLRKGSA NVVECKVYKK GYELNQCLTT TQSKIFPCDK
YIKVFHKIFN SNRHKTRHTG EKPFKCKKCD ESFCMLLHLH QHKRIHIREN SYQCEECDKV
FKRFSTLTRH KRVHTGEKPF KCEECGKAFK HSSTLTTHKM IHTGEKPYRC EECGKAFYHS
SHLTTHKVIH TGEKPFKCEE CGKAFNHPSA LTTHKFIHVK EKPYKCEECD KAFNRFSYLT
KHKIIHSGEK SYKCEQCGKG FNWSSTLTKH KRIHTGEKPY KCEECGKAFN VSSHLTTHKM
IHTGEKPYKC EECGKAFNHS SKLTIHKIIH TGEKPYKCEE CGKAFNQSSN LTKHKIIHTG
EKLYKCEECG KAFNRSSNLT THKRIHTGEK PYKCEECGKA FNRSSNLTKH NIIHTGEKSY
KCEECGKAFN QSSTLTKHRK IQQGMVAHAC NPNTLRGLGE QIARSGVQDQ PGQHGKTPSL
LKIQKFAGCG GRRL