ZN470_HUMAN
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 03-AUG-2022, entry version 148.
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};
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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; Q6ECI4; -.
DR PeptideAtlas; Q6ECI4; -.
DR PRIDE; Q6ECI4; -.
DR ProteomicsDB; 66276; -. [Q6ECI4-1]
DR ProteomicsDB; 66277; -. [Q6ECI4-2]
DR Antibodypedia; 33221; 15 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 CTD; 388566; -.
DR GeneCards; ZNF470; -.
DR HGNC; HGNC:22220; ZNF470.
DR HPA; ENSG00000197016; Low tissue specificity.
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; 1318335at2759; -.
DR PhylomeDB; Q6ECI4; -.
DR TreeFam; TF341817; -.
DR PathwayCommons; Q6ECI4; -.
DR Reactome; R-HSA-212436; Generic Transcription Pathway.
DR BioGRID-ORCS; 388566; 5 hits in 1092 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 cortical plate and 106 other tissues.
DR ExpressionAtlas; Q6ECI4; baseline and differential.
DR Genevisible; Q6ECI4; HS.
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 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; 15.
DR SMART; SM00349; KRAB; 1.
DR SMART; SM00355; ZnF_C2H2; 17.
DR SUPFAM; SSF109640; SSF109640; 1.
DR SUPFAM; SSF57667; SSF57667; 10.
DR PROSITE; PS50805; KRAB; 1.
DR PROSITE; PS00028; ZINC_FINGER_C2H2_1; 17.
DR PROSITE; PS50157; ZINC_FINGER_C2H2_2; 17.
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
