ZN468_HUMAN
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 03-AUG-2022, entry version 146.
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. [Q5VIY5-2]
DR AlphaFoldDB; Q5VIY5; -.
DR SMR; Q5VIY5; -.
DR BioGRID; 124696; 6.
DR IntAct; Q5VIY5; 3.
DR STRING; 9606.ENSP00000470381; -.
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; Q5VIY5; -.
DR PeptideAtlas; Q5VIY5; -.
DR PRIDE; Q5VIY5; -.
DR ProteomicsDB; 65255; -. [Q5VIY5-1]
DR ProteomicsDB; 65256; -. [Q5VIY5-2]
DR TopDownProteomics; Q5VIY5-2; -. [Q5VIY5-2]
DR Antibodypedia; 32625; 31 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 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; 1318335at2759; -.
DR PhylomeDB; Q5VIY5; -.
DR TreeFam; TF341892; -.
DR PathwayCommons; Q5VIY5; -.
DR Reactome; R-HSA-212436; Generic Transcription Pathway.
DR SignaLink; Q5VIY5; -.
DR BioGRID-ORCS; 90333; 298 hits in 1061 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 147 other tissues.
DR ExpressionAtlas; Q5VIY5; baseline and differential.
DR Genevisible; Q5VIY5; HS.
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 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; 6.
DR PROSITE; PS50805; KRAB; 1.
DR PROSITE; PS00028; ZINC_FINGER_C2H2_1; 10.
DR PROSITE; PS50157; ZINC_FINGER_C2H2_2; 11.
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
