ID   ZN468_HUMAN             Reviewed;         522 AA.
AC   Q5VIY5; A8MV20; Q5CZB8; Q5VIY4; Q68DI7;
DT   20-MAR-2007, integrated into UniProtKB/Swiss-Prot.
DT   07-DEC-2004, sequence version 1.
DT   27-MAR-2024, entry version 154.
DE   RecName: Full=Zinc finger protein 468;
GN   Name=ZNF468;
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 [MRNA] (ISOFORMS 1 AND 2), ALTERNATIVE SPLICING, AND
RP   TISSUE SPECIFICITY.
RC   TISSUE=Fetal brain;
RX   PubMed=16144304; DOI=10.1007/s10528-005-5219-2;
RA   Sun L., Gu S., Li N., Zheng D., Sun Y., Li D., Ji C., Ying K., Xie Y.,
RA   Mao Y.;
RT   "A novel zinc finger gene ZNF468 with two co-expressional splice variants,
RT   ZNF468.1 and ZNF468.2.";
RL   Biochem. Genet. 43:271-286(2005).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC   TISSUE=Colon carcinoma, and Liver;
RX   PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA   Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA   Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA   Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA   Wiemann S., Schupp I.;
RT   "The full-ORF clone resource of the German cDNA consortium.";
RL   BMC Genomics 8:399-399(2007).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=15057824; DOI=10.1038/nature02399;
RA   Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E.,
RA   Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A.,
RA   Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S.,
RA   Carrano A.V., Caoile C., Chan Y.M., Christensen M., Cleland C.A.,
RA   Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J.,
RA   Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M.,
RA   Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W.,
RA   Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V.,
RA   Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D.,
RA   McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I.,
RA   Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L.,
RA   Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A.,
RA   She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M.,
RA   Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J.,
RA   Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E.,
RA   Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M.,
RA   Rubin E.M., Lucas S.M.;
RT   "The DNA sequence and biology of human chromosome 19.";
RL   Nature 428:529-535(2004).
RN   [4]
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.
CC   -!- FUNCTION: May be involved in transcriptional regulation.
CC   -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=2;
CC       Name=1; Synonyms=ZNF468.1;
CC         IsoId=Q5VIY5-1; Sequence=Displayed;
CC       Name=2; Synonyms=ZNF468.2;
CC         IsoId=Q5VIY5-2; Sequence=VSP_023659;
CC   -!- TISSUE SPECIFICITY: Isoform 1 and isoform 2 are highly expressed in
CC       placenta, pancreas, and small intestine. Lower expression in colon,
CC       ovary, testis, prostate, thymus, spleen, kidney, and liver. No
CC       expression detected in heart and brain. {ECO:0000269|PubMed:16144304}.
CC   -!- SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein
CC       family. {ECO:0000305}.
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DR   EMBL; AY442330; AAS01603.1; -; mRNA.
DR   EMBL; AY442331; AAS01604.1; -; mRNA.
DR   EMBL; CR749381; CAH18233.1; -; mRNA.
DR   EMBL; CR936599; CAI56747.1; -; mRNA.
DR   EMBL; AC008813; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; CH471135; EAW72100.1; -; Genomic_DNA.
DR   CCDS; CCDS33094.1; -. [Q5VIY5-1]
DR   RefSeq; NP_001008801.1; NM_001008801.1. [Q5VIY5-1]
DR   RefSeq; NP_001264049.1; NM_001277120.1.
DR   RefSeq; XP_016882933.1; XM_017027444.1.
DR   AlphaFoldDB; Q5VIY5; -.
DR   SMR; Q5VIY5; -.
DR   BioGRID; 124696; 6.
DR   IntAct; Q5VIY5; 4.
DR   STRING; 9606.ENSP00000470381; -.
DR   GlyGen; Q5VIY5; 1 site, 1 O-linked glycan (1 site).
DR   iPTMnet; Q5VIY5; -.
DR   PhosphoSitePlus; Q5VIY5; -.
DR   BioMuta; ZNF468; -.
DR   DMDM; 74756746; -.
DR   EPD; Q5VIY5; -.
DR   jPOST; Q5VIY5; -.
DR   MassIVE; Q5VIY5; -.
DR   MaxQB; Q5VIY5; -.
DR   PaxDb; 9606-ENSP00000470381; -.
DR   PeptideAtlas; Q5VIY5; -.
DR   ProteomicsDB; 65255; -. [Q5VIY5-1]
DR   ProteomicsDB; 65256; -. [Q5VIY5-2]
DR   TopDownProteomics; Q5VIY5-2; -. [Q5VIY5-2]
DR   Antibodypedia; 32625; 37 antibodies from 11 providers.
DR   DNASU; 90333; -.
DR   Ensembl; ENST00000595646.6; ENSP00000470381.1; ENSG00000204604.13. [Q5VIY5-1]
DR   GeneID; 90333; -.
DR   KEGG; hsa:90333; -.
DR   MANE-Select; ENST00000595646.6; ENSP00000470381.1; NM_001008801.2; NP_001008801.1.
DR   UCSC; uc002qaf.4; human. [Q5VIY5-1]
DR   AGR; HGNC:33105; -.
DR   CTD; 90333; -.
DR   GeneCards; ZNF468; -.
DR   HGNC; HGNC:33105; ZNF468.
DR   HPA; ENSG00000204604; Low tissue specificity.
DR   MIM; 616841; gene.
DR   neXtProt; NX_Q5VIY5; -.
DR   OpenTargets; ENSG00000204604; -.
DR   PharmGKB; PA162410166; -.
DR   VEuPathDB; HostDB:ENSG00000204604; -.
DR   eggNOG; KOG1721; Eukaryota.
DR   GeneTree; ENSGT00940000154397; -.
DR   HOGENOM; CLU_002678_44_5_1; -.
DR   InParanoid; Q5VIY5; -.
DR   OMA; EFCLHEI; -.
DR   OrthoDB; 4330832at2759; -.
DR   PhylomeDB; Q5VIY5; -.
DR   TreeFam; TF341892; -.
DR   PathwayCommons; Q5VIY5; -.
DR   Reactome; R-HSA-212436; Generic Transcription Pathway.
DR   SignaLink; Q5VIY5; -.
DR   BioGRID-ORCS; 90333; 303 hits in 1140 CRISPR screens.
DR   ChiTaRS; ZNF468; human.
DR   GenomeRNAi; 90333; -.
DR   Pharos; Q5VIY5; Tdark.
DR   PRO; PR:Q5VIY5; -.
DR   Proteomes; UP000005640; Chromosome 19.
DR   RNAct; Q5VIY5; Protein.
DR   Bgee; ENSG00000204604; Expressed in palpebral conjunctiva and 149 other cell types or tissues.
DR   ExpressionAtlas; Q5VIY5; baseline and differential.
DR   GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR   GO; GO:0000981; F:DNA-binding transcription factor 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   CDD; cd07765; KRAB_A-box; 1.
DR   Gene3D; 6.10.140.140; -; 1.
DR   Gene3D; 3.30.160.60; Classic Zinc Finger; 11.
DR   InterPro; IPR001909; KRAB.
DR   InterPro; IPR036051; KRAB_dom_sf.
DR   InterPro; IPR036236; Znf_C2H2_sf.
DR   InterPro; IPR013087; Znf_C2H2_type.
DR   PANTHER; PTHR16515; PR DOMAIN ZINC FINGER PROTEIN; 1.
DR   PANTHER; PTHR16515:SF51; ZINC FINGER PROTEIN 936; 1.
DR   Pfam; PF01352; KRAB; 1.
DR   Pfam; PF00096; zf-C2H2; 7.
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; 6.
DR   SUPFAM; SSF109640; KRAB domain (Kruppel-associated box); 1.
DR   PROSITE; PS50805; KRAB; 1.
DR   PROSITE; PS00028; ZINC_FINGER_C2H2_1; 10.
DR   PROSITE; PS50157; ZINC_FINGER_C2H2_2; 11.
DR   Genevisible; Q5VIY5; HS.
PE   2: Evidence at transcript level;
KW   Alternative splicing; DNA-binding; Metal-binding; Nucleus;
KW   Reference proteome; Repeat; Transcription; Transcription regulation; Zinc;
KW   Zinc-finger.
FT   CHAIN           1..522
FT                   /note="Zinc finger protein 468"
FT                   /id="PRO_0000280412"
FT   DOMAIN          8..80
FT                   /note="KRAB"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00119"
FT   ZN_FING         215..237
FT                   /note="C2H2-type 1; degenerate"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         243..265
FT                   /note="C2H2-type 2"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         271..293
FT                   /note="C2H2-type 3"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         299..321
FT                   /note="C2H2-type 4"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         327..349
FT                   /note="C2H2-type 5"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         355..377
FT                   /note="C2H2-type 6"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         383..405
FT                   /note="C2H2-type 7"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         411..433
FT                   /note="C2H2-type 8"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         439..461
FT                   /note="C2H2-type 9"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         467..489
FT                   /note="C2H2-type 10"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         495..517
FT                   /note="C2H2-type 11"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   VAR_SEQ         1..53
FT                   /note="Missing (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:16144304"
FT                   /id="VSP_023659"
FT   VARIANT         374
FT                   /note="H -> R (in dbSNP:rs12462929)"
FT                   /id="VAR_031141"
FT   VARIANT         477
FT                   /note="G -> R (in dbSNP:rs10419826)"
FT                   /id="VAR_031142"
FT   CONFLICT        253
FT                   /note="N -> G (in Ref. 2; CAH18233)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        482
FT                   /note="L -> P (in Ref. 2; CAI56747)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   522 AA;  60573 MW;  C18A5B24C5CB22F7 CRC64;
     MALPQGLLTF RDVAIEFSQE EWKCLDPAQR TLYRDVMLEN YRNLVSLDIS SKCMLKTLSS
     TGQGNTEVIH TGTLHRQASH HIGEFCFHEI EKDIHGFEFQ WKEDETNGHA APMTEIKELA
     GSTGQHDQRH AGNKRIKDQL GSSFHLHLPE PHIFQSEGKI GNQVEKSINN ASSVSTSQRI
     CCRPKTHISN KYGNNSLHSS LLTQKWEVHM REKSFECIQS FKSFNCSSLL KKHQIIHLEE
     KQCKCDVCGK VFNQKRYLAC HRRCHTGEKP YKCNECGKTF GHNSSLFIHK ALHTGEKPYE
     CEECDKVFSR KSHLERHKRI HTGEKPYKCK VCDEAFAYNS YLAKHTILHT GEKPYTCNEC
     GKVFNRLSTL ARHHRLHTGE KPYKCEECDK VFSRKSHLER HRRIHSGEKP YKCEECCKVF
     SRKSNLERHR RIHTGEKPYK CKVCDKAFQR DSHLAQHQRV HTGEKPYKCN ECGKTFGQTS
     SLIIHRRLHT GEKPYKCNEC GKTFSQMSSL VYHHRLHSGE KP
//