ID   ZN596_HUMAN             Reviewed;         504 AA.
AC   Q8TC21; B2R8P4; O95015; Q8N9X0;
DT   11-JUL-2006, integrated into UniProtKB/Swiss-Prot.
DT   01-SEP-2009, sequence version 2.
DT   27-MAR-2024, entry version 172.
DE   RecName: Full=Zinc finger protein 596;
GN   Name=ZNF596;
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 3).
RC   TISSUE=Brain, and Testis;
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=16421571; DOI=10.1038/nature04406;
RA   Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M.,
RA   Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L.,
RA   Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S.,
RA   Asakawa T., Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A.,
RA   Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III,
RA   Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K.,
RA   Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P.,
RA   Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H.,
RA   Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B.,
RA   O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K.,
RA   Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L.,
RA   Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G.,
RA   Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W.,
RA   Platzer M., Shimizu N., Lander E.S.;
RT   "DNA sequence and analysis of human chromosome 8.";
RL   Nature 439:331-335(2006).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (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).
CC   -!- FUNCTION: May be involved in transcriptional regulation.
CC   -!- INTERACTION:
CC       Q8TC21; P60900: PSMA6; NbExp=3; IntAct=EBI-3923453, EBI-357793;
CC   -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=3;
CC       Name=1;
CC         IsoId=Q8TC21-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q8TC21-2; Sequence=VSP_019802;
CC       Name=3;
CC         IsoId=Q8TC21-3; Sequence=VSP_019801, VSP_019803, VSP_019804;
CC   -!- SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein
CC       family. {ECO:0000305}.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=AAD05197.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
CC       Sequence=BAG36241.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR   EMBL; AK313454; BAG36241.1; ALT_INIT; mRNA.
DR   EMBL; AK093442; BAC04166.1; -; mRNA.
DR   EMBL; AC004908; AAD05197.1; ALT_SEQ; Genomic_DNA.
DR   EMBL; BC026190; AAH26190.2; -; mRNA.
DR   CCDS; CCDS5951.2; -. [Q8TC21-1]
DR   RefSeq; NP_001035880.1; NM_001042415.2. [Q8TC21-1]
DR   RefSeq; NP_001035881.1; NM_001042416.2. [Q8TC21-1]
DR   RefSeq; NP_001274183.1; NM_001287254.1. [Q8TC21-1]
DR   RefSeq; NP_001274184.1; NM_001287255.1. [Q8TC21-1]
DR   RefSeq; NP_001274185.1; NM_001287256.1. [Q8TC21-1]
DR   RefSeq; NP_001274328.1; NM_001287399.1.
DR   RefSeq; NP_775810.2; NM_173539.3. [Q8TC21-1]
DR   RefSeq; XP_016868655.1; XM_017013166.1.
DR   AlphaFoldDB; Q8TC21; -.
DR   SMR; Q8TC21; -.
DR   BioGRID; 127979; 2.
DR   IntAct; Q8TC21; 2.
DR   STRING; 9606.ENSP00000381613; -.
DR   GlyGen; Q8TC21; 1 site, 1 O-linked glycan (1 site).
DR   iPTMnet; Q8TC21; -.
DR   PhosphoSitePlus; Q8TC21; -.
DR   BioMuta; ZNF596; -.
DR   DMDM; 257050982; -.
DR   MassIVE; Q8TC21; -.
DR   PaxDb; 9606-ENSP00000381613; -.
DR   PeptideAtlas; Q8TC21; -.
DR   Antibodypedia; 7941; 173 antibodies from 27 providers.
DR   DNASU; 169270; -.
DR   Ensembl; ENST00000308811.8; ENSP00000310033.4; ENSG00000172748.14. [Q8TC21-1]
DR   Ensembl; ENST00000320552.6; ENSP00000318719.3; ENSG00000172748.14. [Q8TC21-1]
DR   Ensembl; ENST00000398612.3; ENSP00000381613.1; ENSG00000172748.14. [Q8TC21-1]
DR   GeneID; 169270; -.
DR   KEGG; hsa:169270; -.
DR   MANE-Select; ENST00000398612.3; ENSP00000381613.1; NM_001042416.3; NP_001035881.1.
DR   UCSC; uc003wot.5; human. [Q8TC21-1]
DR   AGR; HGNC:27268; -.
DR   CTD; 169270; -.
DR   DisGeNET; 169270; -.
DR   GeneCards; ZNF596; -.
DR   HGNC; HGNC:27268; ZNF596.
DR   HPA; ENSG00000172748; Tissue enhanced (retina).
DR   neXtProt; NX_Q8TC21; -.
DR   OpenTargets; ENSG00000172748; -.
DR   PharmGKB; PA134901402; -.
DR   VEuPathDB; HostDB:ENSG00000172748; -.
DR   eggNOG; KOG1721; Eukaryota.
DR   GeneTree; ENSGT00940000154559; -.
DR   HOGENOM; CLU_002678_44_18_1; -.
DR   InParanoid; Q8TC21; -.
DR   OMA; MIFMQHI; -.
DR   OrthoDB; 5251159at2759; -.
DR   PhylomeDB; Q8TC21; -.
DR   TreeFam; TF338497; -.
DR   PathwayCommons; Q8TC21; -.
DR   Reactome; R-HSA-212436; Generic Transcription Pathway.
DR   SignaLink; Q8TC21; -.
DR   BioGRID-ORCS; 169270; 21 hits in 1170 CRISPR screens.
DR   ChiTaRS; ZNF596; human.
DR   GenomeRNAi; 169270; -.
DR   Pharos; Q8TC21; Tdark.
DR   PRO; PR:Q8TC21; -.
DR   Proteomes; UP000005640; Chromosome 8.
DR   RNAct; Q8TC21; Protein.
DR   Bgee; ENSG00000172748; Expressed in right hemisphere of cerebellum and 102 other cell types or tissues.
DR   ExpressionAtlas; Q8TC21; baseline and differential.
DR   GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
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   CDD; cd07765; KRAB_A-box; 1.
DR   Gene3D; 6.10.140.140; -; 1.
DR   Gene3D; 3.30.160.60; Classic Zinc Finger; 12.
DR   InterPro; IPR001909; KRAB.
DR   InterPro; IPR036051; KRAB_dom_sf.
DR   InterPro; IPR036236; Znf_C2H2_sf.
DR   InterPro; IPR013087; Znf_C2H2_type.
DR   PANTHER; PTHR24390; ZINC FINGER PROTEIN; 1.
DR   PANTHER; PTHR24390:SF245; ZINC FINGER PROTEIN 383-RELATED; 1.
DR   Pfam; PF01352; KRAB; 1.
DR   Pfam; PF00096; zf-C2H2; 9.
DR   Pfam; PF13465; zf-H2C2_2; 1.
DR   SMART; SM00349; KRAB; 1.
DR   SMART; SM00355; ZnF_C2H2; 11.
DR   SUPFAM; SSF57667; beta-beta-alpha zinc fingers; 8.
DR   SUPFAM; SSF109640; KRAB domain (Kruppel-associated box); 1.
DR   PROSITE; PS50805; KRAB; 1.
DR   PROSITE; PS00028; ZINC_FINGER_C2H2_1; 11.
DR   PROSITE; PS50157; ZINC_FINGER_C2H2_2; 11.
DR   Genevisible; Q8TC21; HS.
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..504
FT                   /note="Zinc finger protein 596"
FT                   /id="PRO_0000245849"
FT   DOMAIN          7..78
FT                   /note="KRAB"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00119"
FT   ZN_FING         195..217
FT                   /note="C2H2-type 1"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         223..245
FT                   /note="C2H2-type 2"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         251..273
FT                   /note="C2H2-type 3"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         279..301
FT                   /note="C2H2-type 4"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         307..329
FT                   /note="C2H2-type 5"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         335..357
FT                   /note="C2H2-type 6"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         363..385
FT                   /note="C2H2-type 7"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         391..413
FT                   /note="C2H2-type 8"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         419..441
FT                   /note="C2H2-type 9"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         447..469
FT                   /note="C2H2-type 10"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         475..497
FT                   /note="C2H2-type 11"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   VAR_SEQ         1..101
FT                   /note="Missing (in isoform 3)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_019801"
FT   VAR_SEQ         48..117
FT                   /note="Missing (in isoform 2)"
FT                   /evidence="ECO:0000305"
FT                   /id="VSP_019802"
FT   VAR_SEQ         235..240
FT                   /note="CSDLRK -> LIIVNT (in isoform 3)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_019803"
FT   VAR_SEQ         241..504
FT                   /note="Missing (in isoform 3)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_019804"
FT   VARIANT         136
FT                   /note="T -> K (in dbSNP:rs2074718)"
FT                   /id="VAR_027014"
FT   VARIANT         476
FT                   /note="V -> G (in dbSNP:rs2072174)"
FT                   /id="VAR_027015"
FT   CONFLICT        89
FT                   /note="Q -> H (in Ref. 3; AAH26190)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   504 AA;  58513 MW;  1158FF72312AE7DA CRC64;
     MPSPDSMTFE DIIVDFTQEE WALLDTSQRK LFQDVMLENI SHLVSIGKQL CKSVVLSQLE
     QVEKLSTQRI SLLQGREVGI KHQEIPFIQH IYQKGTSTIS TMRSHTQEDP FLCNDLGEDF
     TQHIALTQNV ITYMRTKHFV SKKFGKIFSD WLSFNQHKEI HTKCKSYGSH LFDYAFIQNS
     ALRPHSVTHT REITLECRVC GKTFSKNSNL RRHEMIHTGE KPHGCHLCGK AFTHCSDLRK
     HERTHTGEKP YGCHLCGKAF SKSSNLRRHE MIHTREKAQI CHLCGKAFTH CSDLRKHERT
     HLGDKPYGCL LCGKAFSKCS YLRQHERTHN GEKPYECHLC GKAFSHCSHL RQHERSHNGE
     KPHGCHLCGK AFTESSVLKR HERIHTGEKP YECHVCGKAF TESSDLRRHE RTHTGEKPYE
     CHLCGKAFNH SSVLRRHERT HTGEKPYECN ICGKAFNRSY NFRLHRRVHT GEKPYVCPLC
     GKAFSKFFNL RQHERTHTKK AMNM
//