ZN596_HUMAN
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 03-AUG-2022, entry version 163.
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. [Q8TC21-1]
DR AlphaFoldDB; Q8TC21; -.
DR SMR; Q8TC21; -.
DR BioGRID; 127979; 2.
DR IntAct; Q8TC21; 2.
DR STRING; 9606.ENSP00000381613; -.
DR iPTMnet; Q8TC21; -.
DR PhosphoSitePlus; Q8TC21; -.
DR BioMuta; ZNF596; -.
DR DMDM; 257050982; -.
DR MassIVE; Q8TC21; -.
DR PaxDb; Q8TC21; -.
DR PeptideAtlas; Q8TC21; -.
DR PRIDE; Q8TC21; -.
DR Antibodypedia; 7941; 153 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 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; 1318335at2759; -.
DR PhylomeDB; Q8TC21; -.
DR TreeFam; TF338497; -.
DR PathwayCommons; Q8TC21; -.
DR Reactome; R-HSA-212436; Generic Transcription Pathway.
DR SignaLink; Q8TC21; -.
DR BioGRID-ORCS; 169270; 19 hits in 1091 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 100 other tissues.
DR ExpressionAtlas; Q8TC21; baseline and differential.
DR Genevisible; Q8TC21; 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; 11.
DR SUPFAM; SSF109640; SSF109640; 1.
DR SUPFAM; SSF57667; SSF57667; 8.
DR PROSITE; PS50805; KRAB; 1.
DR PROSITE; PS00028; ZINC_FINGER_C2H2_1; 11.
DR PROSITE; PS50157; ZINC_FINGER_C2H2_2; 11.
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
