ZN471_HUMAN
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 03-AUG-2022, entry version 183.
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; 12.
DR IntAct; Q9BX82; 5.
DR STRING; 9606.ENSP00000309161; -.
DR iPTMnet; Q9BX82; -.
DR PhosphoSitePlus; Q9BX82; -.
DR BioMuta; ZNF471; -.
DR DMDM; 37999856; -.
DR jPOST; Q9BX82; -.
DR MassIVE; Q9BX82; -.
DR PaxDb; Q9BX82; -.
DR PeptideAtlas; Q9BX82; -.
DR PRIDE; Q9BX82; -.
DR Antibodypedia; 33215; 105 antibodies from 15 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 CTD; 57573; -.
DR DisGeNET; 57573; -.
DR GeneCards; ZNF471; -.
DR HGNC; HGNC:23226; ZNF471.
DR HPA; ENSG00000196263; Low tissue specificity.
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; YNHKSDK; -.
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 1088 CRISPR screens.
DR ChiTaRS; ZNF471; human.
DR GeneWiki; ZNF471; -.
DR GenomeRNAi; 57573; -.
DR Pharos; Q9BX82; Tdark.
DR PRO; PR:Q9BX82; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q9BX82; protein.
DR Bgee; ENSG00000196263; Expressed in right uterine tube and 141 other tissues.
DR ExpressionAtlas; Q9BX82; baseline and differential.
DR Genevisible; Q9BX82; HS.
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 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; 12.
DR SMART; SM00349; KRAB; 1.
DR SMART; SM00355; ZnF_C2H2; 15.
DR SUPFAM; SSF109640; SSF109640; 1.
DR SUPFAM; SSF57667; SSF57667; 8.
DR PROSITE; PS50805; KRAB; 1.
DR PROSITE; PS00028; ZINC_FINGER_C2H2_1; 15.
DR PROSITE; PS50157; ZINC_FINGER_C2H2_2; 15.
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
