ZN594_HUMAN
ID ZN594_HUMAN Reviewed; 807 AA.
AC Q96JF6; Q6RFS0;
DT 02-OCT-2007, integrated into UniProtKB/Swiss-Prot.
DT 02-OCT-2007, sequence version 3.
DT 03-AUG-2022, entry version 155.
DE RecName: Full=Zinc finger protein 594;
DE AltName: Full=Zinc finger protein HZF18;
GN Name=ZNF594; Synonyms=KIAA1871;
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;
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 [2]
RP SEQUENCE REVISION.
RX PubMed=12168954; DOI=10.1093/dnares/9.3.99;
RA Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.;
RT "Construction of expression-ready cDNA clones for KIAA genes: manual
RT curation of 330 KIAA cDNA clones.";
RL DNA Res. 9:99-106(2002).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 775-807.
RX PubMed=7865130; DOI=10.1089/dna.1995.14.125;
RA Abrink M., Aveskogh M., Hellman L.;
RT "Isolation of cDNA clones for 42 different Kruppel-related zinc finger
RT proteins expressed in the human monoblast cell line U-937.";
RL DNA Cell Biol. 14:125-136(1995).
CC -!- FUNCTION: May be involved in transcriptional regulation. {ECO:0000250}.
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=BAB47500.2; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AB058774; BAB47500.2; ALT_INIT; mRNA.
DR EMBL; AY500358; AAS55108.1; -; mRNA.
DR CCDS; CCDS42241.1; -.
DR RefSeq; NP_115919.1; NM_032530.1.
DR RefSeq; XP_005256884.1; XM_005256827.2.
DR AlphaFoldDB; Q96JF6; -.
DR SMR; Q96JF6; -.
DR BioGRID; 124152; 6.
DR IntAct; Q96JF6; 2.
DR STRING; 9606.ENSP00000382513; -.
DR iPTMnet; Q96JF6; -.
DR PhosphoSitePlus; Q96JF6; -.
DR BioMuta; ZNF594; -.
DR DMDM; 158706519; -.
DR MassIVE; Q96JF6; -.
DR PaxDb; Q96JF6; -.
DR PeptideAtlas; Q96JF6; -.
DR PRIDE; Q96JF6; -.
DR ProteomicsDB; 76955; -.
DR Antibodypedia; 77544; 13 antibodies from 5 providers.
DR DNASU; 84622; -.
DR Ensembl; ENST00000399604.4; ENSP00000382513.4; ENSG00000180626.10.
DR Ensembl; ENST00000575779.2; ENSP00000461032.1; ENSG00000180626.10.
DR GeneID; 84622; -.
DR KEGG; hsa:84622; -.
DR MANE-Select; ENST00000575779.2; ENSP00000461032.1; NM_032530.2; NP_115919.1.
DR UCSC; uc010cla.2; human.
DR CTD; 84622; -.
DR GeneCards; ZNF594; -.
DR HGNC; HGNC:29392; ZNF594.
DR HPA; ENSG00000180626; Low tissue specificity.
DR neXtProt; NX_Q96JF6; -.
DR OpenTargets; ENSG00000180626; -.
DR PharmGKB; PA134985995; -.
DR VEuPathDB; HostDB:ENSG00000180626; -.
DR eggNOG; KOG1721; Eukaryota.
DR GeneTree; ENSGT00940000161335; -.
DR HOGENOM; CLU_002678_17_1_1; -.
DR InParanoid; Q96JF6; -.
DR OMA; YECGQTF; -.
DR OrthoDB; 1318335at2759; -.
DR PhylomeDB; Q96JF6; -.
DR TreeFam; TF343410; -.
DR PathwayCommons; Q96JF6; -.
DR SignaLink; Q96JF6; -.
DR BioGRID-ORCS; 84622; 7 hits in 1088 CRISPR screens.
DR ChiTaRS; ZNF594; human.
DR GenomeRNAi; 84622; -.
DR Pharos; Q96JF6; Tdark.
DR PRO; PR:Q96JF6; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q96JF6; protein.
DR Bgee; ENSG00000180626; Expressed in cortical plate and 120 other tissues.
DR ExpressionAtlas; Q96JF6; baseline and differential.
DR Genevisible; Q96JF6; HS.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0001228; F:DNA-binding transcription activator activity, RNA polymerase II-specific; IBA:GO_Central.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR InterPro; IPR036236; Znf_C2H2_sf.
DR InterPro; IPR013087; Znf_C2H2_type.
DR Pfam; PF00096; zf-C2H2; 17.
DR SMART; SM00355; ZnF_C2H2; 22.
DR SUPFAM; SSF57667; SSF57667; 13.
DR PROSITE; PS00028; ZINC_FINGER_C2H2_1; 20.
DR PROSITE; PS50157; ZINC_FINGER_C2H2_2; 22.
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..807
FT /note="Zinc finger protein 594"
FT /id="PRO_0000306878"
FT ZN_FING 127..149
FT /note="C2H2-type 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 155..177
FT /note="C2H2-type 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 183..205
FT /note="C2H2-type 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 211..233
FT /note="C2H2-type 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 239..261
FT /note="C2H2-type 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 267..289
FT /note="C2H2-type 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 295..317
FT /note="C2H2-type 7"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 323..345
FT /note="C2H2-type 8"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 348..370
FT /note="C2H2-type 9; degenerate"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 376..398
FT /note="C2H2-type 10"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 404..426
FT /note="C2H2-type 11"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 432..454
FT /note="C2H2-type 12"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 460..482
FT /note="C2H2-type 13"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 488..510
FT /note="C2H2-type 14"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 516..538
FT /note="C2H2-type 15"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 543..562
FT /note="C2H2-type 16; degenerate"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 568..590
FT /note="C2H2-type 17"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 596..618
FT /note="C2H2-type 18"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 624..646
FT /note="C2H2-type 19"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 652..674
FT /note="C2H2-type 20"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 680..702
FT /note="C2H2-type 21"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 708..730
FT /note="C2H2-type 22"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 733..755
FT /note="C2H2-type 23; degenerate"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 761..783
FT /note="C2H2-type 24"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT REGION 1..23
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1..21
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 166
FT /note="Q -> H (in dbSNP:rs59197486)"
FT /id="VAR_061957"
FT VARIANT 171
FT /note="I -> T (in dbSNP:rs9908414)"
FT /id="VAR_035333"
FT VARIANT 199
FT /note="V -> G (in dbSNP:rs3853648)"
FT /id="VAR_035334"
SQ SEQUENCE 807 AA; 93907 MW; 6CF07D66DB694DB0 CRC64;
MKEWKSKMEI SEEKKSARAA SEKLQRQITQ ECELVETSNS EDRLLKHWVS PLKDAMRHLP
SQESGIREMH IIPQKAIVGE IGHGCNEGEK ILSAGESSHR YEVSGQNFKQ KSGLTEHQKI
HNINKTYECK ECEKTFNRSS NLIIHQRIHT GNKPYVCNEC GKDSNQSSNL IIHQRIHTGK
KPYICHECGK DFNQSSNLVR HKQIHSGGNP YECKECGKAF KGSSNLVLHQ RIHSRGKPYL
CNKCGKAFSQ STDLIIHHRI HTGEKPYECY DCGQMFSQSS HLVPHQRIHT GEKPLKCNEC
EKAFRQHSHL TEHQRLHSGE KPYECHRCGK TFSGRTAFLK HQRLHAGEKI EECEKTFSKD
EELREEQRIH QEEKAYWCNQ CGRNFQGTSD LIRHQVTHTG EKPYECKECG KTFNQSSDLL
RHHRIHSGEK PCVCSKCGKS FRGSSDLIRH HRVHTGEKPY ECSECGKAFS QRSHLVTHQK
IHTGEKPYQC TECGKAFRRR SLLIQHRRIH SGEKPYECKE CGKLFIWRTA FLKHQSLHTG
EKLECEKTFS QDEELRGEQK IHQEAKAYWC NQCGRAFQGS SDLIRHQVTH TREKPYECKE
CGKTFNQSSD LLRHHRIHSG EKPYVCNKCG KSFRGSSDLI KHHRIHTGEK PYECSECGKA
FSQRSHLATH QKIHTGEKPY QCSECGNAFR RRSLLIQHRR LHSGEKPYEC KECGKLFMWH
TAFLKHQRLH AGEKLEECEK TFSKDEELRK EQRTHQEKKV YWCNQCSRTF QGSSDLIRHQ
VTHTREKPYE CKECGKTQSE LRPSETS