ZN512_HUMAN
ID ZN512_HUMAN Reviewed; 567 AA.
AC Q96ME7; B4DSM5; Q53RZ7; Q86XK6; Q96JM0;
DT 15-MAR-2004, integrated into UniProtKB/Swiss-Prot.
DT 05-MAY-2009, sequence version 2.
DT 03-AUG-2022, entry version 162.
DE RecName: Full=Zinc finger protein 512;
GN Name=ZNF512; Synonyms=KIAA1805;
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] (ISOFORMS 1 AND 2).
RC TISSUE=Brain, Cerebellum, and Neuroepithelioma;
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [3]
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 (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Testis, and Uterus;
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 34-567 (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=11347906; DOI=10.1093/dnares/8.2.85;
RA Nagase T., Nakayama M., Nakajima D., Kikuno R., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XX. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 8:85-95(2001).
RN [6]
RP SUMOYLATION [LARGE SCALE ANALYSIS] AT LYS-333, AND IDENTIFICATION BY MASS
RP SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=25218447; DOI=10.1038/nsmb.2890;
RA Hendriks I.A., D'Souza R.C., Yang B., Verlaan-de Vries M., Mann M.,
RA Vertegaal A.C.;
RT "Uncovering global SUMOylation signaling networks in a site-specific
RT manner.";
RL Nat. Struct. Mol. Biol. 21:927-936(2014).
RN [7]
RP SUMOYLATION [LARGE SCALE ANALYSIS] AT LYS-18; LYS-84 AND LYS-227, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=28112733; DOI=10.1038/nsmb.3366;
RA Hendriks I.A., Lyon D., Young C., Jensen L.J., Vertegaal A.C.,
RA Nielsen M.L.;
RT "Site-specific mapping of the human SUMO proteome reveals co-modification
RT with phosphorylation.";
RL Nat. Struct. Mol. Biol. 24:325-336(2017).
RN [8]
RP STRUCTURE BY NMR OF 142-224.
RG RIKEN structural genomics initiative (RSGI);
RT "Solution structure of two ZF-C2H2 domains from human zinc finger protein
RT 512.";
RL Submitted (NOV-2005) to the PDB data bank.
CC -!- FUNCTION: May be involved in transcriptional regulation.
CC -!- INTERACTION:
CC Q96ME7; Q63ZY3: KANK2; NbExp=3; IntAct=EBI-10986895, EBI-2556193;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q96ME7-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96ME7-2; Sequence=VSP_046933;
CC Name=3;
CC IsoId=Q96ME7-3; Sequence=VSP_046934, VSP_046935;
CC -!- SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein
CC family. {ECO:0000305}.
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DR EMBL; AK057028; BAB71348.1; -; mRNA.
DR EMBL; AK294055; BAH11661.1; -; mRNA.
DR EMBL; AK299818; BAG61687.1; -; mRNA.
DR EMBL; AK316299; BAH14670.1; -; mRNA.
DR EMBL; AC074091; AAX93199.1; -; Genomic_DNA.
DR EMBL; CH471053; EAX00562.1; -; Genomic_DNA.
DR EMBL; CH471053; EAX00564.1; -; Genomic_DNA.
DR EMBL; CH471053; EAX00565.1; -; Genomic_DNA.
DR EMBL; AB058708; BAB47434.1; -; mRNA.
DR EMBL; BC043221; AAH43221.1; -; mRNA.
DR EMBL; BC093041; AAH93041.1; -; mRNA.
DR CCDS; CCDS1758.1; -. [Q96ME7-1]
DR CCDS; CCDS59428.1; -. [Q96ME7-3]
DR CCDS; CCDS59429.1; -. [Q96ME7-2]
DR RefSeq; NP_001258215.1; NM_001271286.1. [Q96ME7-3]
DR RefSeq; NP_001258216.1; NM_001271287.1. [Q96ME7-2]
DR RefSeq; NP_001258217.1; NM_001271288.1. [Q96ME7-2]
DR RefSeq; NP_001258218.1; NM_001271289.1.
DR RefSeq; NP_001258247.1; NM_001271318.1. [Q96ME7-2]
DR RefSeq; NP_115810.2; NM_032434.3. [Q96ME7-1]
DR PDB; 2CTD; NMR; -; A=142-224.
DR PDBsum; 2CTD; -.
DR AlphaFoldDB; Q96ME7; -.
DR SMR; Q96ME7; -.
DR BioGRID; 124088; 243.
DR IntAct; Q96ME7; 112.
DR MINT; Q96ME7; -.
DR STRING; 9606.ENSP00000347648; -.
DR GlyGen; Q96ME7; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q96ME7; -.
DR PhosphoSitePlus; Q96ME7; -.
DR BioMuta; ZNF512; -.
DR DMDM; 229462786; -.
DR EPD; Q96ME7; -.
DR jPOST; Q96ME7; -.
DR MassIVE; Q96ME7; -.
DR MaxQB; Q96ME7; -.
DR PaxDb; Q96ME7; -.
DR PeptideAtlas; Q96ME7; -.
DR PRIDE; Q96ME7; -.
DR ProteomicsDB; 5037; -.
DR ProteomicsDB; 70294; -.
DR ProteomicsDB; 77343; -. [Q96ME7-1]
DR Antibodypedia; 34858; 95 antibodies from 19 providers.
DR DNASU; 84450; -.
DR Ensembl; ENST00000355467.6; ENSP00000347648.3; ENSG00000243943.10. [Q96ME7-1]
DR Ensembl; ENST00000413371.6; ENSP00000395660.2; ENSG00000243943.10. [Q96ME7-2]
DR Ensembl; ENST00000416005.6; ENSP00000407038.2; ENSG00000243943.10. [Q96ME7-3]
DR Ensembl; ENST00000556601.5; ENSP00000451572.2; ENSG00000243943.10. [Q96ME7-2]
DR GeneID; 84450; -.
DR KEGG; hsa:84450; -.
DR MANE-Select; ENST00000355467.6; ENSP00000347648.3; NM_032434.4; NP_115810.2.
DR UCSC; uc002rla.5; human. [Q96ME7-1]
DR CTD; 84450; -.
DR DisGeNET; 84450; -.
DR GeneCards; ZNF512; -.
DR HGNC; HGNC:29380; ZNF512.
DR HPA; ENSG00000243943; Low tissue specificity.
DR neXtProt; NX_Q96ME7; -.
DR OpenTargets; ENSG00000243943; -.
DR PharmGKB; PA134896861; -.
DR VEuPathDB; HostDB:ENSG00000243943; -.
DR eggNOG; KOG1721; Eukaryota.
DR GeneTree; ENSGT00940000158595; -.
DR HOGENOM; CLU_481412_0_0_1; -.
DR InParanoid; Q96ME7; -.
DR OMA; PFFPESG; -.
DR OrthoDB; 222563at2759; -.
DR PhylomeDB; Q96ME7; -.
DR TreeFam; TF331185; -.
DR PathwayCommons; Q96ME7; -.
DR SignaLink; Q96ME7; -.
DR BioGRID-ORCS; 84450; 6 hits in 1083 CRISPR screens.
DR ChiTaRS; ZNF512; human.
DR EvolutionaryTrace; Q96ME7; -.
DR GenomeRNAi; 84450; -.
DR Pharos; Q96ME7; Tbio.
DR PRO; PR:Q96ME7; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q96ME7; protein.
DR Bgee; ENSG00000243943; Expressed in cortical plate and 172 other tissues.
DR ExpressionAtlas; Q96ME7; baseline and differential.
DR Genevisible; Q96ME7; HS.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0003677; F:DNA binding; IEA:UniProtKB-KW.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR InterPro; IPR036236; Znf_C2H2_sf.
DR InterPro; IPR013087; Znf_C2H2_type.
DR Pfam; PF00096; zf-C2H2; 1.
DR SMART; SM00355; ZnF_C2H2; 4.
DR SUPFAM; SSF57667; SSF57667; 5.
DR PROSITE; PS00028; ZINC_FINGER_C2H2_1; 3.
DR PROSITE; PS50157; ZINC_FINGER_C2H2_2; 2.
PE 1: Evidence at protein level;
KW 3D-structure; Alternative splicing; DNA-binding; Isopeptide bond;
KW Metal-binding; Nucleus; Reference proteome; Repeat; Transcription;
KW Transcription regulation; Ubl conjugation; Zinc; Zinc-finger.
FT CHAIN 1..567
FT /note="Zinc finger protein 512"
FT /id="PRO_0000047630"
FT ZN_FING 197..220
FT /note="C2H2-type 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 287..310
FT /note="C2H2-type 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 406..430
FT /note="C2H2-type 3; atypical"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 440..463
FT /note="C2H2-type 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT REGION 1..32
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 86..148
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 486..567
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 97..119
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CROSSLNK 18
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO2)"
FT /evidence="ECO:0007744|PubMed:28112733"
FT CROSSLNK 84
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO2)"
FT /evidence="ECO:0007744|PubMed:28112733"
FT CROSSLNK 227
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO2)"
FT /evidence="ECO:0007744|PubMed:28112733"
FT CROSSLNK 333
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO2)"
FT /evidence="ECO:0007744|PubMed:25218447"
FT VAR_SEQ 1..77
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_046933"
FT VAR_SEQ 31
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000305"
FT /id="VSP_046934"
FT VAR_SEQ 126..153
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000305"
FT /id="VSP_046935"
FT CONFLICT 24
FT /note="R -> S (in Ref. 1; BAB71348)"
FT /evidence="ECO:0000305"
FT HELIX 155..165
FT /evidence="ECO:0007829|PDB:2CTD"
FT TURN 172..174
FT /evidence="ECO:0007829|PDB:2CTD"
FT STRAND 178..181
FT /evidence="ECO:0007829|PDB:2CTD"
FT HELIX 182..192
FT /evidence="ECO:0007829|PDB:2CTD"
FT STRAND 200..202
FT /evidence="ECO:0007829|PDB:2CTD"
FT HELIX 209..219
FT /evidence="ECO:0007829|PDB:2CTD"
SQ SEQUENCE 567 AA; 64682 MW; 0837E9DB4ED46E75 CRC64;
MSSRLGAVPA TSGPTTFKQQ RSTRIVGAKN SRTQCSIKDN SFQYTIPHDD SLSGSSSASS
CEPVSDFPAS FRKSTYWMKM RRIKPAATSH VEGSGGVSAK GKRKPRQEED EDYREFPQKK
HKLYGRKQRP KTQPNPKSQA RRIRKEPPVY AAGSLEEQWY LEIVDKGSVS CPTCQAVGRK
TIEGLKKHME NCKQEMFTCH HCGKQLRSLA GMKYHVMANH NSLPILKAGD EIDEPSERER
LRTVLKRLGK LRCMRESCSS SFTSIMGYLY HVRKCGKGAA ELEKMTLKCH HCGKPYRSKA
GLAYHLRSEH GPISFFPESG QPECLKEMNL ESKSGGRVQR RSAKIAVYHL QELASAELAK
EWPKRKVLQD LVPDDRKLKY TRPGLPTFSQ EVLHKWKTDI KKYHRIQCPN QGCEAVYSSV
SGLKAHLGSC TLGNFVAGKY KCLLCQKEFV SESGVKYHIN SVHAEDWFVV NPTTTKSFEK
LMKIKQRQQE EEKRRQQHRS RRSLRRRQQP GIELPETELS LRVGKDQRRN NEELVVSASC
KEPEQEPVPA QFQKVKPPKT NHKRGRK
