ID   ZN471_HUMAN             Reviewed;         626 AA.
AC   Q9BX82; B4DF32; O75260; Q08AD6; Q08AD7; Q8N3V1; Q9P2F1;
DT   24-OCT-2003, integrated into UniProtKB/Swiss-Prot.
DT   01-JUN-2001, sequence version 1.
DT   27-MAR-2024, entry version 192.
DE   RecName: Full=Zinc finger protein 471;
DE   AltName: Full=EZFIT-related protein 1;
GN   Name=ZNF471; Synonyms=ERP1, KIAA1396;
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 [MRNA] (ISOFORM 1).
RC   TISSUE=Pancreas;
RA   Mataki C., Murakami T., Umetani M., Wada Y., Hamakubo T., Kodama T.;
RT   "EZFIT-related protein 1.";
RL   Submitted (FEB-2001) to the EMBL/GenBank/DDBJ databases.
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND VARIANT
RP   ASP-406.
RC   TISSUE=Brain, and Cerebellum;
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   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC   TISSUE=Skeletal muscle;
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 MRNA] (ISOFORM 1), AND VARIANT ASP-406.
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   [6]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 76-626 (ISOFORM 1), AND VARIANTS
RP   ILE-192; ASP-406 AND CYS-556.
RC   TISSUE=Brain;
RX   PubMed=10718198; DOI=10.1093/dnares/7.1.65;
RA   Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.;
RT   "Prediction of the coding sequences of unidentified human genes. XVI. The
RT   complete sequences of 150 new cDNA clones from brain which code for large
RT   proteins in vitro.";
RL   DNA Res. 7:65-73(2000).
RN   [7]
RP   VARIANT [LARGE SCALE ANALYSIS] CYS-361.
RX   PubMed=16959974; DOI=10.1126/science.1133427;
RA   Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA   Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA   Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA   Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA   Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA   Velculescu V.E.;
RT   "The consensus coding sequences of human breast and colorectal cancers.";
RL   Science 314:268-274(2006).
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=Q9BX82-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q9BX82-2; Sequence=VSP_055955, VSP_055956;
CC   -!- SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein
CC       family. {ECO:0000305}.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=AAC32422.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
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DR   EMBL; AF352026; AAK30252.1; -; mRNA.
DR   EMBL; AK291416; BAF84105.1; -; mRNA.
DR   EMBL; AK293908; BAG57293.1; -; mRNA.
DR   EMBL; AL831845; CAD38551.1; -; mRNA.
DR   EMBL; AC004696; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AC005498; AAC32422.1; ALT_SEQ; Genomic_DNA.
DR   EMBL; BC125221; AAI25222.1; -; mRNA.
DR   EMBL; BC125222; AAI25223.1; -; mRNA.
DR   EMBL; AB037817; BAA92634.1; -; mRNA.
DR   CCDS; CCDS12945.1; -. [Q9BX82-1]
DR   RefSeq; NP_001308697.1; NM_001321768.1.
DR   RefSeq; NP_065864.2; NM_020813.3. [Q9BX82-1]
DR   RefSeq; XP_011525450.1; XM_011527148.1. [Q9BX82-1]
DR   AlphaFoldDB; Q9BX82; -.
DR   SMR; Q9BX82; -.
DR   BioGRID; 121626; 14.
DR   IntAct; Q9BX82; 6.
DR   STRING; 9606.ENSP00000309161; -.
DR   GlyGen; Q9BX82; 1 site, 1 O-linked glycan (1 site).
DR   iPTMnet; Q9BX82; -.
DR   PhosphoSitePlus; Q9BX82; -.
DR   BioMuta; ZNF471; -.
DR   DMDM; 37999856; -.
DR   jPOST; Q9BX82; -.
DR   MassIVE; Q9BX82; -.
DR   PaxDb; 9606-ENSP00000309161; -.
DR   PeptideAtlas; Q9BX82; -.
DR   ProteomicsDB; 79379; -. [Q9BX82-1]
DR   Antibodypedia; 33215; 135 antibodies from 16 providers.
DR   DNASU; 57573; -.
DR   Ensembl; ENST00000308031.10; ENSP00000309161.4; ENSG00000196263.8. [Q9BX82-1]
DR   Ensembl; ENST00000591537.5; ENSP00000466224.1; ENSG00000196263.8. [Q9BX82-2]
DR   GeneID; 57573; -.
DR   KEGG; hsa:57573; -.
DR   MANE-Select; ENST00000308031.10; ENSP00000309161.4; NM_020813.4; NP_065864.2.
DR   UCSC; uc002qnh.4; human. [Q9BX82-1]
DR   AGR; HGNC:23226; -.
DR   CTD; 57573; -.
DR   DisGeNET; 57573; -.
DR   GeneCards; ZNF471; -.
DR   HGNC; HGNC:23226; ZNF471.
DR   HPA; ENSG00000196263; Low tissue specificity.
DR   MIM; 620162; gene.
DR   neXtProt; NX_Q9BX82; -.
DR   OpenTargets; ENSG00000196263; -.
DR   PharmGKB; PA134940750; -.
DR   VEuPathDB; HostDB:ENSG00000196263; -.
DR   eggNOG; KOG1721; Eukaryota.
DR   GeneTree; ENSGT00940000161954; -.
DR   HOGENOM; CLU_002678_44_3_1; -.
DR   InParanoid; Q9BX82; -.
DR   OMA; YNKSGKF; -.
DR   OrthoDB; 4760110at2759; -.
DR   PhylomeDB; Q9BX82; -.
DR   TreeFam; TF341817; -.
DR   PathwayCommons; Q9BX82; -.
DR   Reactome; R-HSA-212436; Generic Transcription Pathway.
DR   SignaLink; Q9BX82; -.
DR   BioGRID-ORCS; 57573; 10 hits in 1166 CRISPR screens.
DR   ChiTaRS; ZNF471; human.
DR   GeneWiki; ZNF471; -.
DR   GenomeRNAi; 57573; -.
DR   Pharos; Q9BX82; Tbio.
DR   PRO; PR:Q9BX82; -.
DR   Proteomes; UP000005640; Chromosome 19.
DR   RNAct; Q9BX82; Protein.
DR   Bgee; ENSG00000196263; Expressed in right uterine tube and 143 other cell types or tissues.
DR   ExpressionAtlas; Q9BX82; baseline and differential.
DR   GO; GO:0005634; C:nucleus; IDA:LIFEdb.
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   Gene3D; 6.10.140.140; -; 1.
DR   Gene3D; 3.30.160.60; Classic Zinc Finger; 15.
DR   InterPro; IPR001909; KRAB.
DR   InterPro; IPR036051; KRAB_dom_sf.
DR   InterPro; IPR036236; Znf_C2H2_sf.
DR   InterPro; IPR013087; Znf_C2H2_type.
DR   PANTHER; PTHR23226; ZINC FINGER AND SCAN DOMAIN-CONTAINING; 1.
DR   PANTHER; PTHR23226:SF416; ZINC FINGER PROTEIN 46; 1.
DR   Pfam; PF01352; KRAB; 1.
DR   Pfam; PF00096; zf-C2H2; 14.
DR   SMART; SM00349; KRAB; 1.
DR   SMART; SM00355; ZnF_C2H2; 15.
DR   SUPFAM; SSF57667; beta-beta-alpha zinc fingers; 8.
DR   SUPFAM; SSF109640; KRAB domain (Kruppel-associated box); 1.
DR   PROSITE; PS50805; KRAB; 1.
DR   PROSITE; PS00028; ZINC_FINGER_C2H2_1; 15.
DR   PROSITE; PS50157; ZINC_FINGER_C2H2_2; 15.
DR   Genevisible; Q9BX82; HS.
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..626
FT                   /note="Zinc finger protein 471"
FT                   /id="PRO_0000047603"
FT   DOMAIN          14..85
FT                   /note="KRAB"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00119"
FT   ZN_FING         206..228
FT                   /note="C2H2-type 1"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         234..256
FT                   /note="C2H2-type 2"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         262..284
FT                   /note="C2H2-type 3"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         290..312
FT                   /note="C2H2-type 4"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         318..340
FT                   /note="C2H2-type 5"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         346..369
FT                   /note="C2H2-type 6"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         375..397
FT                   /note="C2H2-type 7"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         403..425
FT                   /note="C2H2-type 8"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         431..453
FT                   /note="C2H2-type 9"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         459..481
FT                   /note="C2H2-type 10"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         487..509
FT                   /note="C2H2-type 11"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         515..537
FT                   /note="C2H2-type 12"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         543..565
FT                   /note="C2H2-type 13"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         571..593
FT                   /note="C2H2-type 14"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         599..621
FT                   /note="C2H2-type 15"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   VAR_SEQ         86..247
FT                   /note="DWESIYVTQELPLKQFMYDDACMEGITSYGLECSTFEENWKWEDLFEKQMGS
FT                   HEMFSKKEIITHKETITKETEFKYTKFGKCIHLENIEESIYNHTSDKKSFSKNSMVIKH
FT                   KKVYVGKKLFKCNECDKTFTHSSSLTVHFRIHTGEKPYACEECGKAFKQRQ -> EFIL
FT                   VKNHMHVRNVEKPSSKGNTLLNITEHILERNSLNVKNVGKPSNKVNTLFSIKEFILEKN
FT                   HINVRNAEKPSDSLHTLLSIREFILERNPMNVKNVAKPSVMARLLLDIRDVTLAKDPMN
FT                   VLSVGRLLGITHLLFVTGGVIILERSLLIALIVGKPSVFT (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_055955"
FT   VAR_SEQ         248..626
FT                   /note="Missing (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_055956"
FT   VARIANT         192
FT                   /note="M -> I (in dbSNP:rs11667052)"
FT                   /evidence="ECO:0000269|PubMed:10718198"
FT                   /id="VAR_052836"
FT   VARIANT         309
FT                   /note="Q -> R (in dbSNP:rs45487092)"
FT                   /id="VAR_061951"
FT   VARIANT         361
FT                   /note="F -> C (in a colorectal cancer sample; somatic
FT                   mutation)"
FT                   /evidence="ECO:0000269|PubMed:16959974"
FT                   /id="VAR_035583"
FT   VARIANT         406
FT                   /note="G -> D (in dbSNP:rs3752176)"
FT                   /evidence="ECO:0000269|PubMed:10718198,
FT                   ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334"
FT                   /id="VAR_052837"
FT   VARIANT         556
FT                   /note="S -> C (in dbSNP:rs16987303)"
FT                   /evidence="ECO:0000269|PubMed:10718198"
FT                   /id="VAR_052838"
FT   CONFLICT        61
FT                   /note="Y -> C (in Ref. 3; CAD38551)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        407
FT                   /note="V -> A (in Ref. 3; CAD38551)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   626 AA;  73009 MW;  7F47ACFB04CE99AA CRC64;
     MNVEVVKVMP QDLVTFKDVA IDFSQEEWQW MNPAQKRLYR SMMLENYQSL VSLGLCISKP
     YVISLLEQGR EPWEMTSEMT RSPFSDWESI YVTQELPLKQ FMYDDACMEG ITSYGLECST
     FEENWKWEDL FEKQMGSHEM FSKKEIITHK ETITKETEFK YTKFGKCIHL ENIEESIYNH
     TSDKKSFSKN SMVIKHKKVY VGKKLFKCNE CDKTFTHSSS LTVHFRIHTG EKPYACEECG
     KAFKQRQHLA QHHRTHTGEK LFECKECRKA FKQSEHLIQH QRIHTGEKPY KCKECRKAFR
     QPAHLAQHQR IHTGEKPYEC KECGKAFSDG SSFARHQRCH TGKRPYECIE CGKAFRYNTS
     FIRHWRSYHT GEKPFNCIDC GKAFSVHIGL ILHRRIHTGE KPYKCGVCGK TFSSGSSRTV
     HQRIHTGEKP YECDICGKDF SHHASLTQHQ RVHSGEKPYE CKECGKAFRQ NVHLVSHLRI
     HTGEKPYECK ECGKAFRISS QLATHQRIHT GEKPYECIEC GNAFKQRSHL AQHQKTHTGE
     KPYECNECGK AFSQTSNLTQ HQRIHTGEKP YKCTECGKAF SDSSSCAQHQ RLHTGQRPYQ
     CFECGKAFRR KLSLICHQRS HTGEEP
//