ZN582_HUMAN
ID ZN582_HUMAN Reviewed; 517 AA.
AC Q96NG8; B4DQZ9; B7Z9R3; Q6PJT6;
DT 16-MAY-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2001, sequence version 1.
DT 03-AUG-2022, entry version 158.
DE RecName: Full=Zinc finger protein 582;
GN Name=ZNF582;
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].
RC TISSUE=Brain, and Teratocarcinoma;
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].
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.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Muscle;
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 VARIANTS GLY-65 AND GLU-345.
RX PubMed=24123876; DOI=10.1136/jmedgenet-2013-101644;
RA Schuurs-Hoeijmakers J.H., Vulto-van Silfhout A.T., Vissers L.E.,
RA van de Vondervoort I.I., van Bon B.W., de Ligt J., Gilissen C.,
RA Hehir-Kwa J.Y., Neveling K., del Rosario M., Hira G., Reitano S.,
RA Vitello A., Failla P., Greco D., Fichera M., Galesi O., Kleefstra T.,
RA Greally M.T., Ockeloen C.W., Willemsen M.H., Bongers E.M., Janssen I.M.,
RA Pfundt R., Veltman J.A., Romano C., Willemsen M.A., van Bokhoven H.,
RA Brunner H.G., de Vries B.B., de Brouwer A.P.;
RT "Identification of pathogenic gene variants in small families with
RT intellectually disabled siblings by exome sequencing.";
RL J. Med. Genet. 50:802-811(2013).
CC -!- FUNCTION: May be involved in transcriptional regulation.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein
CC family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH11796.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};
CC Sequence=BAG61111.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAH14399.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC Sequence=EAW72447.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
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DR EMBL; AK055489; BAB70931.1; -; mRNA.
DR EMBL; AK299036; BAG61111.1; ALT_INIT; mRNA.
DR EMBL; AK316028; BAH14399.1; ALT_INIT; mRNA.
DR EMBL; CH471135; EAW72447.1; ALT_SEQ; Genomic_DNA.
DR EMBL; BC011796; AAH11796.1; ALT_SEQ; mRNA.
DR EMBL; BC101008; AAI01009.1; -; mRNA.
DR EMBL; BC101009; AAI01010.1; -; mRNA.
DR EMBL; BC101010; AAI01011.1; -; mRNA.
DR EMBL; BC101011; AAI01012.1; -; mRNA.
DR CCDS; CCDS33121.1; -.
DR RefSeq; NP_001307300.1; NM_001320371.1.
DR RefSeq; NP_653291.1; NM_144690.2.
DR AlphaFoldDB; Q96NG8; -.
DR SMR; Q96NG8; -.
DR BioGRID; 127104; 12.
DR IntAct; Q96NG8; 1.
DR STRING; 9606.ENSP00000301310; -.
DR iPTMnet; Q96NG8; -.
DR PhosphoSitePlus; Q96NG8; -.
DR BioMuta; ZNF582; -.
DR DMDM; 74732564; -.
DR jPOST; Q96NG8; -.
DR MassIVE; Q96NG8; -.
DR PaxDb; Q96NG8; -.
DR PeptideAtlas; Q96NG8; -.
DR PRIDE; Q96NG8; -.
DR ProteomicsDB; 77511; -.
DR Antibodypedia; 33207; 67 antibodies from 15 providers.
DR DNASU; 147948; -.
DR Ensembl; ENST00000301310.8; ENSP00000301310.3; ENSG00000018869.18.
DR Ensembl; ENST00000586929.6; ENSP00000465619.1; ENSG00000018869.18.
DR GeneID; 147948; -.
DR KEGG; hsa:147948; -.
DR MANE-Select; ENST00000586929.6; ENSP00000465619.1; NM_001320371.4; NP_001307300.2.
DR UCSC; uc002qmz.1; human.
DR CTD; 147948; -.
DR DisGeNET; 147948; -.
DR GeneCards; ZNF582; -.
DR HGNC; HGNC:26421; ZNF582.
DR HPA; ENSG00000018869; Low tissue specificity.
DR MIM; 615600; gene.
DR neXtProt; NX_Q96NG8; -.
DR OpenTargets; ENSG00000018869; -.
DR PharmGKB; PA134989661; -.
DR VEuPathDB; HostDB:ENSG00000018869; -.
DR eggNOG; KOG1721; Eukaryota.
DR GeneTree; ENSGT00940000162794; -.
DR HOGENOM; CLU_002678_0_9_1; -.
DR InParanoid; Q96NG8; -.
DR OMA; ECRKDFW; -.
DR OrthoDB; 1318335at2759; -.
DR PhylomeDB; Q96NG8; -.
DR TreeFam; TF337055; -.
DR PathwayCommons; Q96NG8; -.
DR Reactome; R-HSA-212436; Generic Transcription Pathway.
DR SignaLink; Q96NG8; -.
DR BioGRID-ORCS; 147948; 16 hits in 1102 CRISPR screens.
DR GenomeRNAi; 147948; -.
DR Pharos; Q96NG8; Tbio.
DR PRO; PR:Q96NG8; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q96NG8; protein.
DR Bgee; ENSG00000018869; Expressed in tibialis anterior and 120 other tissues.
DR ExpressionAtlas; Q96NG8; baseline and differential.
DR Genevisible; Q96NG8; HS.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; IBA:GO_Central.
DR GO; GO:0001227; F:DNA-binding transcription repressor activity, RNA polymerase II-specific; IBA:GO_Central.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0000977; F:RNA polymerase II transcription regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; 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; 9.
DR SMART; SM00349; KRAB; 1.
DR SMART; SM00355; ZnF_C2H2; 9.
DR SUPFAM; SSF109640; SSF109640; 1.
DR SUPFAM; SSF57667; SSF57667; 6.
DR PROSITE; PS50805; KRAB; 1.
DR PROSITE; PS00028; ZINC_FINGER_C2H2_1; 9.
DR PROSITE; PS50157; ZINC_FINGER_C2H2_2; 10.
PE 2: Evidence at transcript level;
KW DNA-binding; Metal-binding; Nucleus; Reference proteome; Repeat;
KW Transcription; Transcription regulation; Zinc; Zinc-finger.
FT CHAIN 1..517
FT /note="Zinc finger protein 582"
FT /id="PRO_0000234591"
FT DOMAIN 6..77
FT /note="KRAB"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00119"
FT ZN_FING 171..193
FT /note="C2H2-type 1; degenerate"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 199..221
FT /note="C2H2-type 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 227..249
FT /note="C2H2-type 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 255..277
FT /note="C2H2-type 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 283..305
FT /note="C2H2-type 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 311..333
FT /note="C2H2-type 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 339..361
FT /note="C2H2-type 7"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 367..389
FT /note="C2H2-type 8"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 395..417
FT /note="C2H2-type 9"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 423..445
FT /note="C2H2-type 10"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT VARIANT 65
FT /note="W -> G (found in a patient with mild intellectual
FT disability and eye movement disorder; unknown pathological
FT significance; dbSNP:rs369155373)"
FT /evidence="ECO:0000269|PubMed:24123876"
FT /id="VAR_070557"
FT VARIANT 69
FT /note="R -> T (in dbSNP:rs11883260)"
FT /id="VAR_033578"
FT VARIANT 345
FT /note="G -> E (found in a patient with mild intellectual
FT disability and eye movement disorder; unknown pathological
FT significance; dbSNP:rs149022328)"
FT /evidence="ECO:0000269|PubMed:24123876"
FT /id="VAR_070558"
FT CONFLICT 286
FT /note="K -> R (in Ref. 1; BAH14399)"
FT /evidence="ECO:0000305"
FT CONFLICT 365
FT /note="K -> R (in Ref. 1; BAH14399)"
FT /evidence="ECO:0000305"
FT CONFLICT 411
FT /note="T -> A (in Ref. 1; BAH14399)"
FT /evidence="ECO:0000305"
FT CONFLICT 426
FT /note="K -> G (in Ref. 1; BAH14399)"
FT /evidence="ECO:0000305"
FT CONFLICT 475
FT /note="R -> G (in Ref. 1; BAH14399)"
FT /evidence="ECO:0000305"
FT CONFLICT 487
FT /note="P -> A (in Ref. 1; BAH14399)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 517 AA; 60498 MW; FEE3AE28C6F8B53A CRC64;
MSLGSELFRD VAIVFSQEEW QWLAPAQRDL YRDVMLETYS NLVSLGLAVS KPDVISFLEQ
GKEPWMVERV VSGGLCPVLE SRYDTKELFP KQHVYEVESP QWEIMESLTS YGLECSSFQD
DWECRNQFDR QQGNPDRHFH QMIIRHEEMP TFDQHASLTF YQKIHTREKP FGYNKCRKDF
WQKELLINHQ GIYTNEKPYK CKECGKAFKY GSRLIQHENI HSGKKPYECK ECGKAFNSGS
NFIQHQRVHT GEKPYECKDC EKAFSRSSQL IEHQRTHTGE KPYQCKECGK AFNRISHLKV
HYRIHTGEKP YACKECGKTF SHRSQLIQHQ TVHTGRKLYE CKECGKAFNQ GSTLIRHQRI
HTGEKPYECK VCGKAFRVSS QLKQHQRIHT GEKPYQCKVC GRAFKRVSHL TVHYRIHTGE
KPYECKECGK AFSHCSQLIH HQVIHTEKKP YEYKECEKTL SHDSTTVQPQ RMHNRETHVN
IINVEKPSIS SYPLLIIREF MLASNHMNGS NGESPLA
