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 30-NOV-2016, entry version 114.
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;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; 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
RT expression 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.,
RA Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M.,
RA Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E.,
RA Caenepeel S., Carrano A.V., Caoile C., Chan Y.M., Christensen M.,
RA Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C.,
RA Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M.,
RA Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T.,
RA Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H.,
RA Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S.,
RA Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J.,
RA Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M.,
RA Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J.,
RA Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D.,
RA Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A.,
RA Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I.,
RA 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
RT project: 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
RP VARIANT 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.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA 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.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., 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 Note=No experimental confirmation available.;
CC -!- TISSUE SPECIFICITY: Highly expressed in testis. Very low
CC expression in thymus. No expression in other tissues tested.
CC Expressed in a differentiation stage-specific manner in
CC mesenchymal chondrogenic progenitor cells.
CC {ECO:0000269|PubMed:15302581}.
CC -!- SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein
CC family. {ECO:0000305}.
CC -!- SIMILARITY: Contains 17 C2H2-type zinc fingers.
CC {ECO:0000255|PROSITE-ProRule:PRU00042}.
CC -!- SIMILARITY: Contains 1 KRAB domain. {ECO:0000255|PROSITE-
CC ProRule:PRU00119}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC85218.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
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 UniGene; Hs.204449; -.
DR ProteinModelPortal; Q6ECI4; -.
DR SMR; Q6ECI4; -.
DR STRING; 9606.ENSP00000333223; -.
DR iPTMnet; Q6ECI4; -.
DR PhosphoSitePlus; Q6ECI4; -.
DR BioMuta; ZNF470; -.
DR DMDM; 313104257; -.
DR MaxQB; Q6ECI4; -.
DR PaxDb; Q6ECI4; -.
DR PeptideAtlas; Q6ECI4; -.
DR PRIDE; Q6ECI4; -.
DR Ensembl; ENST00000330619; ENSP00000333223; ENSG00000197016. [Q6ECI4-1]
DR Ensembl; ENST00000391709; ENSP00000375590; ENSG00000197016. [Q6ECI4-1]
DR GeneID; 388566; -.
DR KEGG; hsa:388566; -.
DR UCSC; uc002qnl.5; human. [Q6ECI4-1]
DR CTD; 388566; -.
DR GeneCards; ZNF470; -.
DR HGNC; HGNC:22220; ZNF470.
DR HPA; HPA029000; -.
DR neXtProt; NX_Q6ECI4; -.
DR OpenTargets; ENSG00000197016; -.
DR PharmGKB; PA145007252; -.
DR eggNOG; KOG1721; Eukaryota.
DR eggNOG; COG5048; LUCA.
DR GeneTree; ENSGT00860000133674; -.
DR HOGENOM; HOG000234617; -.
DR HOVERGEN; HBG018163; -.
DR InParanoid; Q6ECI4; -.
DR KO; K09228; -.
DR OMA; HKQDCGE; -.
DR OrthoDB; EOG091G02KC; -.
DR PhylomeDB; Q6ECI4; -.
DR TreeFam; TF341817; -.
DR Reactome; R-HSA-212436; Generic Transcription Pathway.
DR GenomeRNAi; 388566; -.
DR PRO; PR:Q6ECI4; -.
DR Proteomes; UP000005640; Chromosome 19.
DR Bgee; ENSG00000197016; -.
DR CleanEx; HS_ZNF470; -.
DR ExpressionAtlas; Q6ECI4; baseline and differential.
DR Genevisible; Q6ECI4; HS.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0003677; F:DNA binding; IEA:UniProtKB-KW.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0003700; F:transcription factor activity, sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:0006355; P:regulation of transcription, DNA-templated; IBA:GO_Central.
DR GO; GO:0006351; P:transcription, DNA-templated; IEA:UniProtKB-KW.
DR CDD; cd07765; KRAB_A-box; 1.
DR Gene3D; 3.30.160.60; -; 17.
DR InterPro; IPR001909; KRAB.
DR InterPro; IPR007087; Znf_C2H2.
DR InterPro; IPR015880; Znf_C2H2-like.
DR InterPro; IPR013087; Znf_C2H2/integrase_DNA-bd.
DR Pfam; PF01352; KRAB; 1.
DR Pfam; PF00096; zf-C2H2; 5.
DR SMART; SM00349; KRAB; 1.
DR SMART; SM00355; ZnF_C2H2; 17.
DR SUPFAM; SSF109640; SSF109640; 1.
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; Complete proteome; DNA-binding; Metal-binding;
KW Nucleus; Polymorphism; Reference proteome; Repeat; Transcription;
KW Transcription regulation; Zinc; Zinc-finger.
FT CHAIN 1 717 Zinc finger protein 470.
FT /FTId=PRO_0000280413.
FT DOMAIN 23 94 KRAB. {ECO:0000255|PROSITE-
FT ProRule:PRU00119}.
FT ZN_FING 228 250 C2H2-type 1. {ECO:0000255|PROSITE-
FT ProRule:PRU00042}.
FT ZN_FING 256 278 C2H2-type 2. {ECO:0000255|PROSITE-
FT ProRule:PRU00042}.
FT ZN_FING 284 306 C2H2-type 3. {ECO:0000255|PROSITE-
FT ProRule:PRU00042}.
FT ZN_FING 312 334 C2H2-type 4. {ECO:0000255|PROSITE-
FT ProRule:PRU00042}.
FT ZN_FING 340 362 C2H2-type 5. {ECO:0000255|PROSITE-
FT ProRule:PRU00042}.
FT ZN_FING 368 391 C2H2-type 6. {ECO:0000255|PROSITE-
FT ProRule:PRU00042}.
FT ZN_FING 397 419 C2H2-type 7. {ECO:0000255|PROSITE-
FT ProRule:PRU00042}.
FT ZN_FING 425 447 C2H2-type 8. {ECO:0000255|PROSITE-
FT ProRule:PRU00042}.
FT ZN_FING 453 475 C2H2-type 9. {ECO:0000255|PROSITE-
FT ProRule:PRU00042}.
FT ZN_FING 481 503 C2H2-type 10. {ECO:0000255|PROSITE-
FT ProRule:PRU00042}.
FT ZN_FING 509 531 C2H2-type 11. {ECO:0000255|PROSITE-
FT ProRule:PRU00042}.
FT ZN_FING 537 559 C2H2-type 12. {ECO:0000255|PROSITE-
FT ProRule:PRU00042}.
FT ZN_FING 565 587 C2H2-type 13. {ECO:0000255|PROSITE-
FT ProRule:PRU00042}.
FT ZN_FING 593 615 C2H2-type 14. {ECO:0000255|PROSITE-
FT ProRule:PRU00042}.
FT ZN_FING 621 643 C2H2-type 15. {ECO:0000255|PROSITE-
FT ProRule:PRU00042}.
FT ZN_FING 649 671 C2H2-type 16. {ECO:0000255|PROSITE-
FT ProRule:PRU00042}.
FT ZN_FING 677 699 C2H2-type 17. {ECO:0000255|PROSITE-
FT ProRule:PRU00042}.
FT MOTIF 216 219 Nuclear localization signal.
FT {ECO:0000255}.
FT MOTIF 385 388 Nuclear localization signal.
FT {ECO:0000255}.
FT VAR_SEQ 63 63 G -> GKSIFLLLPPHDSVVFYAIIRISHSFPQHRQFLYVF
FT LHAG (in isoform 2). {ECO:0000305}.
FT /FTId=VSP_023660.
FT VAR_SEQ 95 251 Missing (in isoform 2). {ECO:0000305}.
FT /FTId=VSP_023661.
FT VARIANT 23 23 V -> L (in dbSNP:rs10421285).
FT {ECO:0000269|PubMed:15302581}.
FT /FTId=VAR_031143.
FT VARIANT 254 254 K -> R (in dbSNP:rs3752179).
FT /FTId=VAR_031144.
FT VARIANT 418 418 T -> I (in dbSNP:rs4801177).
FT {ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15302581}.
FT /FTId=VAR_031145.
FT VARIANT 642 642 I -> T (in dbSNP:rs35077804).
FT /FTId=VAR_061950.
FT CONFLICT 542 542 C -> R (in Ref. 1; AAS64219).
FT {ECO:0000305}.
FT CONFLICT 584 584 Q -> P (in Ref. 1; AAS64219).
FT {ECO:0000305}.
CC --------------------------------------------------------------------------
CC The following FT lines are automated annotations from the MyHits database.
CC --------------------------------------------------------------------------
FT MYHIT 342 362 ipat:ZINC_FINGER_C2H2_1 [T]
FT MYHIT 397 424 iprf:ZINC_FINGER_C2H2_2 [T]
FT MYHIT 453 480 iprf:ZINC_FINGER_C2H2_2 [T]
FT MYHIT 677 699 ismart:ZnF_C2H2 [T]
FT MYHIT 621 648 iprf:ZINC_FINGER_C2H2_2 [T]
FT MYHIT 256 283 iprf:ZINC_FINGER_C2H2_2 [T]
FT MYHIT 593 620 iprf:ZINC_FINGER_C2H2_2 [T]
FT MYHIT 537 559 ismart:ZnF_C2H2 [T]
FT MYHIT 679 699 ipat:ZINC_FINGER_C2H2_1 [T]
FT MYHIT 481 508 iprf:ZINC_FINGER_C2H2_2 [T]
FT MYHIT 567 587 ipat:ZINC_FINGER_C2H2_1 [T]
FT MYHIT 509 531 ismart:ZnF_C2H2 [T]
FT MYHIT 368 396 iprf:ZINC_FINGER_C2H2_2 [T]
FT MYHIT 649 671 ismart:ZnF_C2H2 [T]
FT MYHIT 651 671 ipat:ZINC_FINGER_C2H2_1 [T]
FT MYHIT 228 250 ismart:ZnF_C2H2 [T]
FT MYHIT 649 676 iprf:ZINC_FINGER_C2H2_2 [T]
FT MYHIT 23 83 ismart:KRAB [T]
FT MYHIT 509 536 iprf:ZINC_FINGER_C2H2_2 [T]
FT MYHIT 565 592 iprf:ZINC_FINGER_C2H2_2 [T]
FT MYHIT 370 391 ipat:ZINC_FINGER_C2H2_1 [T]
FT MYHIT 258 278 ipat:ZINC_FINGER_C2H2_1 [T]
FT MYHIT 621 643 ismart:ZnF_C2H2 [T]
FT MYHIT 22 63 ipfam:KRAB [T]
FT MYHIT 314 334 ipat:ZINC_FINGER_C2H2_1 [T]
FT MYHIT 340 367 iprf:ZINC_FINGER_C2H2_2 [T]
FT MYHIT 397 419 ismart:ZnF_C2H2 [T]
FT MYHIT 677 704 iprf:ZINC_FINGER_C2H2_2 [T]
FT MYHIT 425 452 iprf:ZINC_FINGER_C2H2_2 [T]
FT MYHIT 483 503 ipat:ZINC_FINGER_C2H2_1 [T]
FT MYHIT 312 339 iprf:ZINC_FINGER_C2H2_2 [T]
FT MYHIT 593 615 ismart:ZnF_C2H2 [T]
FT MYHIT 23 94 iprf:KRAB [T]
FT MYHIT 399 419 ipat:ZINC_FINGER_C2H2_1 [T]
FT MYHIT 284 311 iprf:ZINC_FINGER_C2H2_2 [T]
FT MYHIT 256 278 ismart:ZnF_C2H2 [T]
FT MYHIT 340 362 ismart:ZnF_C2H2 [T]
FT MYHIT 230 250 ipat:ZINC_FINGER_C2H2_1 [T]
FT MYHIT 228 255 iprf:ZINC_FINGER_C2H2_2 [T]
FT MYHIT 368 391 ismart:ZnF_C2H2 [T]
FT MYHIT 565 587 ismart:ZnF_C2H2 [T]
FT MYHIT 312 334 ismart:ZnF_C2H2 [T]
FT MYHIT 453 475 ismart:ZnF_C2H2 [T]
FT MYHIT 425 447 ismart:ZnF_C2H2 [T]
FT MYHIT 286 306 ipat:ZINC_FINGER_C2H2_1 [T]
FT MYHIT 595 615 ipat:ZINC_FINGER_C2H2_1 [T]
FT MYHIT 511 531 ipat:ZINC_FINGER_C2H2_1 [T]
FT MYHIT 455 475 ipat:ZINC_FINGER_C2H2_1 [T]
FT MYHIT 427 447 ipat:ZINC_FINGER_C2H2_1 [T]
FT MYHIT 539 559 ipat:ZINC_FINGER_C2H2_1 [T]
FT MYHIT 284 306 ismart:ZnF_C2H2 [T]
FT MYHIT 623 643 ipat:ZINC_FINGER_C2H2_1 [T]
FT MYHIT 537 564 iprf:ZINC_FINGER_C2H2_2 [T]
FT MYHIT 481 503 ismart:ZnF_C2H2 [T]
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
//
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