ZN506_HUMAN
ID ZN506_HUMAN Reviewed; 444 AA.
AC Q5JVG8; B3KTH6;
DT 22-NOV-2005, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 2.
DT 03-AUG-2022, entry version 150.
DE RecName: Full=Zinc finger protein 506;
GN Name=ZNF506;
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 [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Amygdala;
RX PubMed=11230166; DOI=10.1101/gr.gr1547r;
RA Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S.,
RA Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J.,
RA Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W.,
RA Ottenwaelder B., Obermaier B., Tampe J., Heubner D., Wambutt R., Korn B.,
RA Klein M., Poustka A.;
RT "Towards a catalog of human genes and proteins: sequencing and analysis of
RT 500 novel complete protein coding human cDNAs.";
RL Genome Res. 11:422-435(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Brain;
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 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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
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=Q5JVG8-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5JVG8-2; Sequence=VSP_040653;
CC -!- SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein
CC family. {ECO:0000305}.
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DR EMBL; AL136548; CAB66483.1; -; mRNA.
DR EMBL; AK095575; BAG53088.1; -; mRNA.
DR EMBL; AK122848; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AC011477; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471106; EAW84861.1; -; Genomic_DNA.
DR CCDS; CCDS42531.1; -. [Q5JVG8-1]
DR CCDS; CCDS46027.1; -. [Q5JVG8-2]
DR RefSeq; NP_001092739.1; NM_001099269.2. [Q5JVG8-1]
DR RefSeq; NP_001138876.1; NM_001145404.1. [Q5JVG8-2]
DR AlphaFoldDB; Q5JVG8; -.
DR SMR; Q5JVG8; -.
DR BioGRID; 136647; 2.
DR STRING; 9606.ENSP00000393835; -.
DR iPTMnet; Q5JVG8; -.
DR PhosphoSitePlus; Q5JVG8; -.
DR BioMuta; ZNF506; -.
DR DMDM; 296453043; -.
DR EPD; Q5JVG8; -.
DR jPOST; Q5JVG8; -.
DR MassIVE; Q5JVG8; -.
DR MaxQB; Q5JVG8; -.
DR PaxDb; Q5JVG8; -.
DR PeptideAtlas; Q5JVG8; -.
DR PRIDE; Q5JVG8; -.
DR ProteomicsDB; 63333; -. [Q5JVG8-1]
DR ProteomicsDB; 63334; -. [Q5JVG8-2]
DR Antibodypedia; 67878; 78 antibodies from 13 providers.
DR DNASU; 440515; -.
DR Ensembl; ENST00000443905.6; ENSP00000393835.2; ENSG00000081665.14. [Q5JVG8-1]
DR Ensembl; ENST00000450683.6; ENSP00000408892.1; ENSG00000081665.14. [Q5JVG8-2]
DR Ensembl; ENST00000540806.7; ENSP00000440625.1; ENSG00000081665.14. [Q5JVG8-1]
DR Ensembl; ENST00000591639.5; ENSP00000468150.1; ENSG00000081665.14. [Q5JVG8-1]
DR GeneID; 440515; -.
DR KEGG; hsa:440515; -.
DR MANE-Select; ENST00000540806.7; ENSP00000440625.1; NM_001099269.3; NP_001092739.1.
DR UCSC; uc002noh.4; human. [Q5JVG8-1]
DR CTD; 440515; -.
DR DisGeNET; 440515; -.
DR GeneCards; ZNF506; -.
DR HGNC; HGNC:23780; ZNF506.
DR HPA; ENSG00000081665; Low tissue specificity.
DR neXtProt; NX_Q5JVG8; -.
DR OpenTargets; ENSG00000081665; -.
DR PharmGKB; PA134884301; -.
DR VEuPathDB; HostDB:ENSG00000081665; -.
DR eggNOG; KOG1721; Eukaryota.
DR GeneTree; ENSGT00940000153236; -.
DR HOGENOM; CLU_002678_0_10_1; -.
DR InParanoid; Q5JVG8; -.
DR OMA; PRRYEKC; -.
DR OrthoDB; 1318335at2759; -.
DR PhylomeDB; Q5JVG8; -.
DR TreeFam; TF342117; -.
DR PathwayCommons; Q5JVG8; -.
DR Reactome; R-HSA-212436; Generic Transcription Pathway.
DR BioGRID-ORCS; 440515; 102 hits in 1030 CRISPR screens.
DR ChiTaRS; ZNF506; human.
DR GenomeRNAi; 440515; -.
DR Pharos; Q5JVG8; Tdark.
DR PRO; PR:Q5JVG8; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q5JVG8; protein.
DR Bgee; ENSG00000081665; Expressed in colonic epithelium and 187 other tissues.
DR ExpressionAtlas; Q5JVG8; baseline and differential.
DR Genevisible; Q5JVG8; HS.
DR GO; GO:0005730; C:nucleolus; 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:0006355; P:regulation of transcription, DNA-templated; 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; 7.
DR SMART; SM00349; KRAB; 1.
DR SMART; SM00355; ZnF_C2H2; 8.
DR SUPFAM; SSF109640; SSF109640; 1.
DR SUPFAM; SSF57667; SSF57667; 5.
DR PROSITE; PS50805; KRAB; 1.
DR PROSITE; PS00028; ZINC_FINGER_C2H2_1; 8.
DR PROSITE; PS50157; ZINC_FINGER_C2H2_2; 8.
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..444
FT /note="Zinc finger protein 506"
FT /id="PRO_0000047624"
FT DOMAIN 4..75
FT /note="KRAB"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00119"
FT ZN_FING 201..223
FT /note="C2H2-type 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 229..251
FT /note="C2H2-type 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 257..279
FT /note="C2H2-type 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 285..307
FT /note="C2H2-type 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 313..335
FT /note="C2H2-type 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 341..363
FT /note="C2H2-type 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 369..391
FT /note="C2H2-type 7"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 397..419
FT /note="C2H2-type 8"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT VAR_SEQ 44..75
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_040653"
FT VARIANT 189
FT /note="T -> P (in dbSNP:rs16996376)"
FT /id="VAR_057421"
FT CONFLICT 118
FT /note="E -> K (in Ref. 1; CAB66483)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 444 AA; 51537 MW; 4B8449C6B8B31FE0 CRC64;
MGPLQFRDVA IEFSLEEWHC LDAAQRNLYR DVMLENYRNL IFLGIVVSKP NLITCLEQGK
KPLTMKRHEM IAKPPVMYSH FAQDLWSEQS IKDSFQKVIL RRYEKCRHDN LQLKKGCESV
DECPVHKRGY NGLKQCLATT QRKIFQCDEY VKFLHKFSNS NKHKIRDTGK KSFKCIEYGK
TFNQSSTRTT YKKIDAGEKR YKCEECGKAY KQSSHLTTHK KIHTGEKPYK CEECGKAYKQ
SCNLTTHKII HTGEKPYRCR ECGKAFNHPA TLFSHKKIHT GEKPYKCDKC GKAFISSSTL
TKHEIIHTGE KPYKCEECGK AFNRSSNLTK HKRIHTGDVP YKCDECGKTF TWYSSLSKHK
RAHTGEKPYK CEECGKAFTA FSTLTEHKII HTGEKPYKCE ECGKAFNWSS ALNKHKKIHI
RQKPCIVKNV ENLLNVPQPL ISIR
