ZN493_HUMAN
ID ZN493_HUMAN Reviewed; 646 AA.
AC Q6ZR52; G5E974; Q59GM3; Q6ZSF6; Q8N1Z6; Q8N965; Q9BR99;
DT 11-OCT-2005, integrated into UniProtKB/Swiss-Prot.
DT 17-APR-2007, sequence version 3.
DT 03-AUG-2022, entry version 160.
DE RecName: Full=Zinc finger protein 493;
GN Name=ZNF493;
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 VARIANTS PHE-195
RP AND VAL-292.
RC TISSUE=Brain, Kidney, Thalamus, and Trachea;
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 1), AND VARIANT PHE-195.
RC TISSUE=Brain;
RA Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.,
RA Ohara O., Nagase T., Kikuno R.F.;
RL Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT PHE-195.
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 [4]
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 [5]
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 [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC TISSUE=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 Q6ZR52-3; Q9H3R5: CENPH; NbExp=3; IntAct=EBI-12856290, EBI-1003700;
CC Q6ZR52-3; Q14696: MESD; NbExp=3; IntAct=EBI-12856290, EBI-6165891;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q6ZR52-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6ZR52-2; Sequence=VSP_038298;
CC Name=3;
CC IsoId=Q6ZR52-3; Sequence=VSP_046656, VSP_046657;
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC04591.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=BAC86997.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=BAD92323.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AK095616; BAC04591.1; ALT_INIT; mRNA.
DR EMBL; AK127476; BAC86997.1; ALT_INIT; mRNA.
DR EMBL; AK128494; BAC87465.1; -; mRNA.
DR EMBL; AB209086; BAD92323.1; ALT_INIT; mRNA.
DR EMBL; BX648842; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AC010615; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471106; EAW84898.1; -; Genomic_DNA.
DR EMBL; BC006408; AAH06408.1; -; mRNA.
DR CCDS; CCDS12411.1; -. [Q6ZR52-3]
DR CCDS; CCDS12412.1; -. [Q6ZR52-1]
DR CCDS; CCDS42536.1; -. [Q6ZR52-2]
DR RefSeq; NP_001070146.1; NM_001076678.2. [Q6ZR52-2]
DR RefSeq; NP_663299.2; NM_145326.2. [Q6ZR52-3]
DR RefSeq; NP_787106.4; NM_175910.6. [Q6ZR52-1]
DR AlphaFoldDB; Q6ZR52; -.
DR SMR; Q6ZR52; -.
DR BioGRID; 129880; 4.
DR IntAct; Q6ZR52; 2.
DR STRING; 9606.ENSP00000376110; -.
DR iPTMnet; Q6ZR52; -.
DR PhosphoSitePlus; Q6ZR52; -.
DR SwissPalm; Q6ZR52; -.
DR BioMuta; ZNF493; -.
DR DMDM; 145559547; -.
DR jPOST; Q6ZR52; -.
DR MassIVE; Q6ZR52; -.
DR MaxQB; Q6ZR52; -.
DR PaxDb; Q6ZR52; -.
DR PeptideAtlas; Q6ZR52; -.
DR PRIDE; Q6ZR52; -.
DR ProteomicsDB; 68112; -. [Q6ZR52-1]
DR ProteomicsDB; 68113; -. [Q6ZR52-2]
DR Antibodypedia; 55042; 60 antibodies from 12 providers.
DR DNASU; 284443; -.
DR Ensembl; ENST00000339914.6; ENSP00000340651.6; ENSG00000196268.12. [Q6ZR52-3]
DR Ensembl; ENST00000355504.4; ENSP00000347691.4; ENSG00000196268.12. [Q6ZR52-1]
DR Ensembl; ENST00000392288.7; ENSP00000376110.2; ENSG00000196268.12. [Q6ZR52-2]
DR GeneID; 284443; -.
DR KEGG; hsa:284443; -.
DR MANE-Select; ENST00000392288.7; ENSP00000376110.2; NM_001076678.3; NP_001070146.1. [Q6ZR52-2]
DR UCSC; uc002npu.4; human. [Q6ZR52-1]
DR CTD; 284443; -.
DR DisGeNET; 284443; -.
DR GeneCards; ZNF493; -.
DR HGNC; HGNC:23708; ZNF493.
DR HPA; ENSG00000196268; Low tissue specificity.
DR neXtProt; NX_Q6ZR52; -.
DR OpenTargets; ENSG00000196268; -.
DR PharmGKB; PA134932599; -.
DR VEuPathDB; HostDB:ENSG00000196268; -.
DR eggNOG; KOG1721; Eukaryota.
DR GeneTree; ENSGT00940000161765; -.
DR HOGENOM; CLU_002678_17_1_1; -.
DR InParanoid; Q6ZR52; -.
DR OMA; ASHKHFH; -.
DR OrthoDB; 1318335at2759; -.
DR PhylomeDB; Q6ZR52; -.
DR TreeFam; TF343410; -.
DR PathwayCommons; Q6ZR52; -.
DR Reactome; R-HSA-212436; Generic Transcription Pathway.
DR SignaLink; Q6ZR52; -.
DR BioGRID-ORCS; 284443; 11 hits in 1065 CRISPR screens.
DR ChiTaRS; ZNF493; human.
DR GenomeRNAi; 284443; -.
DR Pharos; Q6ZR52; Tdark.
DR PRO; PR:Q6ZR52; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q6ZR52; protein.
DR Bgee; ENSG00000196268; Expressed in visceral pleura and 185 other tissues.
DR ExpressionAtlas; Q6ZR52; baseline and differential.
DR Genevisible; Q6ZR52; HS.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0001228; F:DNA-binding transcription activator 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 InterPro; IPR036236; Znf_C2H2_sf.
DR InterPro; IPR013087; Znf_C2H2_type.
DR Pfam; PF00096; zf-C2H2; 16.
DR SMART; SM00355; ZnF_C2H2; 21.
DR SUPFAM; SSF57667; SSF57667; 11.
DR PROSITE; PS00028; ZINC_FINGER_C2H2_1; 18.
DR PROSITE; PS50157; ZINC_FINGER_C2H2_2; 22.
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..646
FT /note="Zinc finger protein 493"
FT /id="PRO_0000047616"
FT ZN_FING 26..48
FT /note="C2H2-type 1; degenerate"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 54..76
FT /note="C2H2-type 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 82..104
FT /note="C2H2-type 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 109..131
FT /note="C2H2-type 4; degenerate"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 137..159
FT /note="C2H2-type 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 165..187
FT /note="C2H2-type 6; degenerate"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 193..215
FT /note="C2H2-type 7; degenerate"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 221..243
FT /note="C2H2-type 8; degenerate"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 249..271
FT /note="C2H2-type 9"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 277..299
FT /note="C2H2-type 10"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 305..327
FT /note="C2H2-type 11"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 333..355
FT /note="C2H2-type 12"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 361..383
FT /note="C2H2-type 13"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 389..411
FT /note="C2H2-type 14"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 417..439
FT /note="C2H2-type 15"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 445..467
FT /note="C2H2-type 16"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 473..495
FT /note="C2H2-type 17"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 501..523
FT /note="C2H2-type 18"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 529..551
FT /note="C2H2-type 19"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 557..579
FT /note="C2H2-type 20"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 585..607
FT /note="C2H2-type 21"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 613..635
FT /note="C2H2-type 22"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT VAR_SEQ 1
FT /note="M -> MPGPPESLDMGPLTFRDVAIEFSLEEWQCLDTAQQDLYRKVMLENYR
FT NLVFLGIAVSKPDLVTCLEQGKDPWNMKGHSTVVKPPVICSHFAEDFCPGPGIKDSFQK
FT VILREYVKCGHKDLQLRKGCKSM (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_038298"
FT VAR_SEQ 1
FT /note="M -> MPGPPESLDMGPLTFRDVAIEFSLEEWQCLDTAQQDLYRKVMLENYR
FT NLVFLAGIAVSKPDLVTCLEQGKDPWNMKGHSTVVKPPVETGFHRFSQDGLYLLTS
FT (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_046656"
FT VAR_SEQ 2..646
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_046657"
FT VARIANT 195
FT /note="C -> F (in dbSNP:rs4621113)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:17974005, ECO:0000269|Ref.2"
FT /id="VAR_052846"
FT VARIANT 292
FT /note="L -> V (in dbSNP:rs10414834)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_052847"
FT CONFLICT 181
FT /note="T -> I (in Ref. 1; BAC87465)"
FT /evidence="ECO:0000305"
FT CONFLICT 202
FT /note="F -> L (in Ref. 1; BAC87465)"
FT /evidence="ECO:0000305"
FT CONFLICT 335
FT /note="C -> R (in Ref. 1; BAC04591)"
FT /evidence="ECO:0000305"
FT CONFLICT 448
FT /note="K -> E (in Ref. 2; BAD92323)"
FT /evidence="ECO:0000305"
FT CONFLICT 547
FT /note="H -> Y (in Ref. 1; BAC86997)"
FT /evidence="ECO:0000305"
FT CONFLICT Q6ZR52-3:94
FT /note="S -> G (in Ref. 6; AAH06408)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 646 AA; 75342 MW; F6F677DF4F48FF55 CRC64;
MNECNVHKEG YNELNQYLTT TQSKIFQCDK YVKVFHKLLN SNRHNTKHTG KKPFKCKKCG
KSFCMLLHLC QHKRIHIREN SYRCEECGKA FIWFSTLTRH RRVHTGEKSY KYECGKSFNQ
DSNLTTHKRI HTGQKPYKCE ECGTSFYQFS YLTRHKLIHT REKPYKCEQY GKTFNQSSTL
TGHKIIHNGE KPYKCEECGK AFSIFSTPTK HKIIHTEEKS HRCEEYCKAY KESSHLTTHK
RIHTGEKPYK CEECGKAFSI FSTLTKHKII HTEEKSHRCE ECGKAYKESS HLTTHKRIHT
GEKPYKCEEC GKTFSVFSIL TKHKIIHTEE KPYKCEECGK AFKRSSTLTK HRIIHTEEKP
YKCEECGKAF NQSSTLSIHK IIHTGEKPYK CEECGKAFKR SSTLTIHKMI HTGEKPYKCE
ECGKAFNRSS HLTTHKRIHT GHKPYKCKEC GKSFSVFSTL TKHKIIHTDK KPYKCEECGK
AFNRSSILSI HKKIHTGEKP YKCEECGKAF KRSSHLAGHK QIHSVQKPYK CEECGKAFSI
FSTLTKHKII HTEEKPYKCE KCGKTFYRFS NLNTHKIIHT GEKPCKCEEC GKAFNHSSNL
IKHKLIHTGD KPYKCEACGK AFRRSSHLSR HKIIHIGIHT EETVQK
