ID ZN470_HUMAN Reviewed; 717 AA. AC Q6ECI4; A8MTW0; B9EGU1; Q6ZPA1; Q9Y2N9; DT 20-MAR-2007, integrated into UniProtKB/Swiss-Prot. DT 30-NOV-2010, sequence version 3. DT 27-MAR-2024, entry version 156. DE RecName: Full=Zinc finger protein 470; DE AltName: Full=Chondrogenesis zinc finger protein 1; DE Short=CZF-1; GN Name=ZNF470; Synonyms=CZF1; 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), SUBCELLULAR LOCATION, TISSUE RP SPECIFICITY, AND VARIANTS LEU-23 AND ILE-418. RC TISSUE=Mesenchymal stem cell; RX PubMed=15302581; DOI=10.1016/j.yexcr.2004.05.030; RA Hering T.M., Kazmi N.H., Huynh T.D., Kollar J., Xu L., Hunyady A.B., RA Johnstone B.; RT "Characterization and chondrocyte differentiation stage-specific expression RT of KRAB zinc-finger protein gene ZNF470."; RL Exp. Cell Res. 299:137-147(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 MRNA] (ISOFORM 1). RC TISSUE=Brain; 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 [4] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 188-717 (ISOFORM 1), AND VARIANT RP ILE-418. RC TISSUE=Adrenal gland; 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). CC -!- FUNCTION: May be involved in transcriptional regulation. CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15302581}. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=2; CC Name=1; CC IsoId=Q6ECI4-1; Sequence=Displayed; CC Name=2; CC IsoId=Q6ECI4-2; Sequence=VSP_023660, VSP_023661; CC -!- TISSUE SPECIFICITY: Highly expressed in testis. Very low expression in CC thymus. No expression in other tissues tested. Expressed in a CC differentiation stage-specific manner in mesenchymal chondrogenic CC progenitor cells. {ECO:0000269|PubMed:15302581}. CC -!- SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein CC family. {ECO:0000305}. CC -!- SEQUENCE CAUTION: CC Sequence=BAC85218.1; Type=Erroneous initiation; Note=Truncated 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; AY484591; AAS64219.1; -; mRNA. DR EMBL; AC007228; AAD23607.1; -; Genomic_DNA. DR EMBL; BC136762; AAI36763.1; -; mRNA. DR EMBL; AK129686; BAC85218.1; ALT_INIT; mRNA. DR CCDS; CCDS33122.1; -. [Q6ECI4-1] DR RefSeq; NP_001001668.3; NM_001001668.3. [Q6ECI4-1] DR AlphaFoldDB; Q6ECI4; -. DR SMR; Q6ECI4; -. DR BioGRID; 132748; 2. DR STRING; 9606.ENSP00000333223; -. DR iPTMnet; Q6ECI4; -. DR PhosphoSitePlus; Q6ECI4; -. DR BioMuta; ZNF470; -. DR DMDM; 313104257; -. DR jPOST; Q6ECI4; -. DR MassIVE; Q6ECI4; -. DR MaxQB; Q6ECI4; -. DR PaxDb; 9606-ENSP00000333223; -. DR PeptideAtlas; Q6ECI4; -. DR ProteomicsDB; 66276; -. [Q6ECI4-1] DR ProteomicsDB; 66277; -. [Q6ECI4-2] DR Antibodypedia; 33221; 16 antibodies from 11 providers. DR DNASU; 388566; -. DR Ensembl; ENST00000330619.13; ENSP00000333223.7; ENSG00000197016.12. [Q6ECI4-1] DR Ensembl; ENST00000391709.4; ENSP00000375590.3; ENSG00000197016.12. [Q6ECI4-1] DR GeneID; 388566; -. DR KEGG; hsa:388566; -. DR MANE-Select; ENST00000330619.13; ENSP00000333223.7; NM_001001668.4; NP_001001668.3. DR UCSC; uc002qnl.5; human. [Q6ECI4-1] DR AGR; HGNC:22220; -. DR CTD; 388566; -. DR GeneCards; ZNF470; -. DR HGNC; HGNC:22220; ZNF470. DR HPA; ENSG00000197016; Tissue enhanced (retina). DR MIM; 620441; gene. DR neXtProt; NX_Q6ECI4; -. DR OpenTargets; ENSG00000197016; -. DR PharmGKB; PA145007252; -. DR VEuPathDB; HostDB:ENSG00000197016; -. DR eggNOG; KOG1721; Eukaryota. DR GeneTree; ENSGT00940000163087; -. DR HOGENOM; CLU_002678_44_5_1; -. DR InParanoid; Q6ECI4; -. DR OMA; CNDCEKM; -. DR OrthoDB; 4760110at2759; -. DR PhylomeDB; Q6ECI4; -. DR TreeFam; TF341817; -. DR PathwayCommons; Q6ECI4; -. DR Reactome; R-HSA-212436; Generic Transcription Pathway. DR BioGRID-ORCS; 388566; 6 hits in 1170 CRISPR screens. DR GenomeRNAi; 388566; -. DR Pharos; Q6ECI4; Tdark. DR PRO; PR:Q6ECI4; -. DR Proteomes; UP000005640; Chromosome 19. DR RNAct; Q6ECI4; Protein. DR Bgee; ENSG00000197016; Expressed in male germ line stem cell (sensu Vertebrata) in testis and 108 other cell types or tissues. DR ExpressionAtlas; Q6ECI4; baseline and differential. DR GO; GO:0016604; C:nuclear body; IDA:HPA. DR GO; GO:0005654; C:nucleoplasm; IDA:HPA. DR GO; GO:0005634; C:nucleus; IBA:GO_Central. 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; 17. DR InterPro; IPR001909; KRAB. DR InterPro; IPR036051; KRAB_dom_sf. DR InterPro; IPR036236; Znf_C2H2_sf. DR InterPro; IPR013087; Znf_C2H2_type. DR PANTHER; PTHR23232; KRAB DOMAIN C2H2 ZINC FINGER; 1. DR PANTHER; PTHR23232:SF90; KRAB DOMAIN-CONTAINING PROTEIN; 1. DR Pfam; PF01352; KRAB; 1. DR Pfam; PF00096; zf-C2H2; 16. DR SMART; SM00349; KRAB; 1. DR SMART; SM00355; ZnF_C2H2; 17. DR SUPFAM; SSF57667; beta-beta-alpha zinc fingers; 10. DR SUPFAM; SSF109640; KRAB domain (Kruppel-associated box); 1. DR PROSITE; PS50805; KRAB; 1. DR PROSITE; PS00028; ZINC_FINGER_C2H2_1; 17. DR PROSITE; PS50157; ZINC_FINGER_C2H2_2; 17. DR Genevisible; Q6ECI4; 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..717 FT /note="Zinc finger protein 470" FT /id="PRO_0000280413" FT DOMAIN 23..94 FT /note="KRAB" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00119" FT ZN_FING 228..250 FT /note="C2H2-type 1" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042" FT ZN_FING 256..278 FT /note="C2H2-type 2" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042" FT ZN_FING 284..306 FT /note="C2H2-type 3" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042" FT ZN_FING 312..334 FT /note="C2H2-type 4" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042" FT ZN_FING 340..362 FT /note="C2H2-type 5" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042" FT ZN_FING 368..391 FT /note="C2H2-type 6" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042" FT ZN_FING 397..419 FT /note="C2H2-type 7" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042" FT ZN_FING 425..447 FT /note="C2H2-type 8" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042" FT ZN_FING 453..475 FT /note="C2H2-type 9" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042" FT ZN_FING 481..503 FT /note="C2H2-type 10" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042" FT ZN_FING 509..531 FT /note="C2H2-type 11" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042" FT ZN_FING 537..559 FT /note="C2H2-type 12" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042" FT ZN_FING 565..587 FT /note="C2H2-type 13" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042" FT ZN_FING 593..615 FT /note="C2H2-type 14" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042" FT ZN_FING 621..643 FT /note="C2H2-type 15" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042" FT ZN_FING 649..671 FT /note="C2H2-type 16" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042" FT ZN_FING 677..699 FT /note="C2H2-type 17" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042" FT MOTIF 216..219 FT /note="Nuclear localization signal" FT /evidence="ECO:0000255" FT MOTIF 385..388 FT /note="Nuclear localization signal" FT /evidence="ECO:0000255" FT VAR_SEQ 63 FT /note="G -> GKSIFLLLPPHDSVVFYAIIRISHSFPQHRQFLYVFLHAG (in FT isoform 2)" FT /evidence="ECO:0000305" FT /id="VSP_023660" FT VAR_SEQ 95..251 FT /note="Missing (in isoform 2)" FT /evidence="ECO:0000305" FT /id="VSP_023661" FT VARIANT 23 FT /note="V -> L (in dbSNP:rs10421285)" FT /evidence="ECO:0000269|PubMed:15302581" FT /id="VAR_031143" FT VARIANT 254 FT /note="K -> R (in dbSNP:rs3752179)" FT /id="VAR_031144" FT VARIANT 418 FT /note="T -> I (in dbSNP:rs4801177)" FT /evidence="ECO:0000269|PubMed:14702039, FT ECO:0000269|PubMed:15302581" FT /id="VAR_031145" FT VARIANT 642 FT /note="I -> T (in dbSNP:rs35077804)" FT /id="VAR_061950" FT CONFLICT 542 FT /note="C -> R (in Ref. 1; AAS64219)" FT /evidence="ECO:0000305" FT CONFLICT 584 FT /note="Q -> P (in Ref. 1; AAS64219)" FT /evidence="ECO:0000305" SQ SEQUENCE 717 AA; 82650 MW; 3CE8F2E9FC5603A3 CRC64; MKSQEEVEVA GIKLCKAMSL GSVTFTDVAI DFSQDEWEWL NLAQRSLYKK VMLENYRNLV SVGLCISKPD VISLLEQEKD PWVIKGGMNR GLCPDLECVW VTKSLSLNQD IYEEKLPPAI IMERLKSYDL ECSTLGKNWK CEDLFERELV NQKTHFRQET ITHIDTLIEK RDHSNKSGTV FHLNTLSYIK QIFPMEERIF NFHTDKKSLK THSVVKKHKQ DRGEKKLLKC NDCEKIFSKI STLTLHQRIH TGEKPYECIE CGKAFSQSAH LAQHQRIHTG EKPFECTECG KAFSQNAHLV QHQRVHTGEK PYQCKQCNKA FSQLAHLAQH QRVHTGEKPY ECIECGKAFS DCSSLAHHRR IHTGKRPYEC IDCGKAFRQN ASLIRHRRYY HTGEKPFDCI DCGKAFTDHI GLIQHKRTHT GERPYKCNVC GKAFSHGSSL TVHQRIHTGE KPYECNICEK AFSHRGSLTL HQRVHTGEKP YECKECGKAF RQSTHLAHHQ RIHTGEKPYE CKECSKTFSQ NAHLAQHQKI HTGEKPYECK ECGKAFSQIA HLVQHQRVHT GEKPYECIEC GKAFSDGSYL VQHQRLHSGK RPYECLECGK AFRQRASLIC HQRCHTGEKP YECNVCGKAF SHRKSLTLHQ RIHTGEKPYE CKECSKAFSQ VAHLTLHKRI HTGERPYECK ECGKAFRQSV HLAHHQRIHT GESSVILSSA LPYHQVL //