ZN599_HUMAN
ID ZN599_HUMAN Reviewed; 588 AA.
AC Q96NL3; Q569K0; Q5PRG1;
DT 16-MAY-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2001, sequence version 1.
DT 03-AUG-2022, entry version 163.
DE RecName: Full=Zinc finger protein 599;
GN Name=ZNF599;
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=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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 33-588 (ISOFORM 1).
RC TISSUE=Testis;
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 [3]
RP VARIANT PHE-178.
RX PubMed=21076407; DOI=10.1038/ng.712;
RA Vissers L.E., de Ligt J., Gilissen C., Janssen I., Steehouwer M.,
RA de Vries P., van Lier B., Arts P., Wieskamp N., del Rosario M.,
RA van Bon B.W., Hoischen A., de Vries B.B., Brunner H.G., Veltman J.A.;
RT "A de novo paradigm for mental retardation.";
RL Nat. Genet. 42:1109-1112(2010).
CC -!- FUNCTION: May be involved in transcriptional regulation.
CC -!- INTERACTION:
CC Q96NL3; Q8NHQ1: CEP70; NbExp=3; IntAct=EBI-8653994, EBI-739624;
CC Q96NL3; A6NEM1: GOLGA6L9; NbExp=3; IntAct=EBI-8653994, EBI-5916454;
CC Q96NL3; P60411: KRTAP10-9; NbExp=3; IntAct=EBI-8653994, EBI-10172052;
CC Q96NL3; Q5JR59: MTUS2; NbExp=3; IntAct=EBI-8653994, EBI-742948;
CC Q96NL3; Q9GZM8: NDEL1; NbExp=6; IntAct=EBI-8653994, EBI-928842;
CC Q96NL3; Q9BZW7: TSGA10; NbExp=3; IntAct=EBI-8653994, EBI-744794;
CC Q96NL3; Q9UGI0: ZRANB1; NbExp=3; IntAct=EBI-8653994, EBI-527853;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q96NL3-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96NL3-2; Sequence=VSP_018385, VSP_018386;
CC -!- SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein
CC family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH44615.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AK055225; BAB70879.1; -; mRNA.
DR EMBL; BC044615; AAH44615.1; ALT_INIT; mRNA.
DR EMBL; BC092428; AAH92428.1; -; mRNA.
DR CCDS; CCDS32991.1; -. [Q96NL3-1]
DR RefSeq; NP_001007249.1; NM_001007248.2. [Q96NL3-1]
DR AlphaFoldDB; Q96NL3; -.
DR SMR; Q96NL3; -.
DR BioGRID; 127117; 9.
DR IntAct; Q96NL3; 8.
DR MINT; Q96NL3; -.
DR STRING; 9606.ENSP00000333802; -.
DR iPTMnet; Q96NL3; -.
DR PhosphoSitePlus; Q96NL3; -.
DR BioMuta; ZNF599; -.
DR DMDM; 74762682; -.
DR jPOST; Q96NL3; -.
DR MassIVE; Q96NL3; -.
DR PaxDb; Q96NL3; -.
DR PeptideAtlas; Q96NL3; -.
DR PRIDE; Q96NL3; -.
DR ProteomicsDB; 77530; -. [Q96NL3-1]
DR Antibodypedia; 847; 106 antibodies from 18 providers.
DR DNASU; 148103; -.
DR Ensembl; ENST00000329285.13; ENSP00000333802.6; ENSG00000153896.19. [Q96NL3-1]
DR Ensembl; ENST00000587354.6; ENSP00000468446.1; ENSG00000153896.19. [Q96NL3-2]
DR GeneID; 148103; -.
DR KEGG; hsa:148103; -.
DR MANE-Select; ENST00000329285.13; ENSP00000333802.6; NM_001007248.3; NP_001007249.1.
DR UCSC; uc010edn.2; human. [Q96NL3-1]
DR CTD; 148103; -.
DR DisGeNET; 148103; -.
DR GeneCards; ZNF599; -.
DR HGNC; HGNC:26408; ZNF599.
DR HPA; ENSG00000153896; Low tissue specificity.
DR neXtProt; NX_Q96NL3; -.
DR OpenTargets; ENSG00000153896; -.
DR PharmGKB; PA134983786; -.
DR VEuPathDB; HostDB:ENSG00000153896; -.
DR eggNOG; KOG1721; Eukaryota.
DR GeneTree; ENSGT00940000159953; -.
DR HOGENOM; CLU_002678_57_1_1; -.
DR InParanoid; Q96NL3; -.
DR OMA; QSTCAGE; -.
DR OrthoDB; 1318335at2759; -.
DR PhylomeDB; Q96NL3; -.
DR TreeFam; TF341817; -.
DR PathwayCommons; Q96NL3; -.
DR Reactome; R-HSA-212436; Generic Transcription Pathway.
DR SignaLink; Q96NL3; -.
DR BioGRID-ORCS; 148103; 13 hits in 1090 CRISPR screens.
DR GenomeRNAi; 148103; -.
DR Pharos; Q96NL3; Tdark.
DR PRO; PR:Q96NL3; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q96NL3; protein.
DR Bgee; ENSG00000153896; Expressed in secondary oocyte and 121 other tissues.
DR ExpressionAtlas; Q96NL3; baseline and differential.
DR Genevisible; Q96NL3; 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; 12.
DR SMART; SM00349; KRAB; 1.
DR SMART; SM00355; ZnF_C2H2; 14.
DR SUPFAM; SSF109640; SSF109640; 1.
DR SUPFAM; SSF57667; SSF57667; 8.
DR PROSITE; PS50805; KRAB; 1.
DR PROSITE; PS00028; ZINC_FINGER_C2H2_1; 14.
DR PROSITE; PS50157; ZINC_FINGER_C2H2_2; 14.
PE 1: Evidence at protein level;
KW Alternative splicing; DNA-binding; Metal-binding; Nucleus;
KW Reference proteome; Repeat; Transcription; Transcription regulation; Zinc;
KW Zinc-finger.
FT CHAIN 1..588
FT /note="Zinc finger protein 599"
FT /id="PRO_0000234592"
FT DOMAIN 9..80
FT /note="KRAB"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00119"
FT ZN_FING 199..221
FT /note="C2H2-type 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 227..249
FT /note="C2H2-type 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 255..277
FT /note="C2H2-type 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 283..305
FT /note="C2H2-type 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 311..333
FT /note="C2H2-type 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 339..361
FT /note="C2H2-type 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 367..389
FT /note="C2H2-type 7"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 395..417
FT /note="C2H2-type 8"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 423..445
FT /note="C2H2-type 9"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 451..473
FT /note="C2H2-type 10"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 479..501
FT /note="C2H2-type 11"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 507..529
FT /note="C2H2-type 12"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 535..557
FT /note="C2H2-type 13"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 563..585
FT /note="C2H2-type 14"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT VAR_SEQ 81..95
FT /note="GEKAKPKITEPTASQ -> ASFSLLWKSYHPGHG (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_018385"
FT VAR_SEQ 96..588
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_018386"
FT VARIANT 178
FT /note="L -> F (de novo variant found in a patient with
FT intellectual disability; dbSNP:rs146342141)"
FT /evidence="ECO:0000269|PubMed:21076407"
FT /id="VAR_065087"
FT CONFLICT 459
FT /note="A -> T (in Ref. 2; AAH44615)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 588 AA; 67492 MW; 0A6E87DD0A817D57 CRC64;
MAAPALALVS FEDVVVTFTG EEWGHLDLAQ RTLYQEVMLE TCRLLVSLGH PVPKPELIYL
LEHGQELWTV KRGLSQSTCA GEKAKPKITE PTASQLAFSE ESSFQELLAQ RSSRDSRLGQ
ARDEEKLIKI QEGNLRPGTN PHKEICPEKL SYKHDDLEPD DSLGLRVLQE RVTPQDALHE
CDSQGPGKDP MTDARNNPYT CTECGKGFSK KWALVRHQQI HAGVKPYECN ECGKACRYMA
DVIRHMRLHT GEKPYKCIEC GKAFKRRFHL TEHQRIHTGD KPYECKECGK AFTHRSSFIQ
HNMTHTREKP FLCKECGKAF YYSSSFAQHM RIHTGKKLYE CGECGKAFTH RSTFIQHNVT
HTGEKPFLCK ECGKTFCLNS SFTQHMRIHT GEKPYECGEC GKAFTHRSTF IRHKRTHTGE
KPFECKECGK AFCDSSSLIQ HMRIHTGEKP YECSECGKAF THHSVFIRHN RTHSGQKPLE
CKECAKAFYY SSSFTRHMRI HTGEKPYVCR ECGKAFTQPA NFVRHNRIHT GEKPFECKEC
EKAFCDNFAL TQHMRTHTGE KPFECNECGK TFSHSSSFTH HRKIHTRV
