LOCUS       NP_001354553            3953 aa            linear   PRI 29-APR-2025
DEFINITION  zinc finger protein 469 [Homo sapiens].
ACCESSION   NP_001354553 XP_016879274
VERSION     NP_001354553.1
DBSOURCE    REFSEQ: accession NM_001367624.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 3953)
  AUTHORS   Ariyachet,C., Nokkeaw,A., Boonkaew,B. and Tangkijvanich,P.
  TITLE     ZNF469 is a profibrotic regulator of extracellular matrix in
            hepatic stellate cells
  JOURNAL   J Cell Biochem 125 (7), e30578 (2024)
   PUBMED   38704698
  REMARK    GeneRIF: ZNF469 is a profibrotic regulator of extracellular matrix
            in hepatic stellate cells.
REFERENCE   2  (residues 1 to 3953)
  AUTHORS   Wonneberger,W., Sterner,B., MacLean,U., Claesson,M.,
            Johansson,L.H., Skoog,I., Zetterberg,M. and Zettergren,A.
  TITLE     Genetic variants in the FOXO1 and ZNF469 genes are associated with
            keratoconus in Sweden: a case-control study
  JOURNAL   BMC Ophthalmol 24 (1), 36 (2024)
   PUBMED   38267912
  REMARK    GeneRIF: Genetic variants in the FOXO1 and ZNF469 genes are
            associated with keratoconus in Sweden: a case-control study.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 3953)
  AUTHORS   Garcia de Oteyza,G., Fernandez Engroba,J. and Charoenrook,V.
  TITLE     New ZNF469 Mutations in Spanish Siblings With Brittle Cornea
            Syndrome
  JOURNAL   Cornea 42 (7), 894-898 (2023)
   PUBMED   37098112
  REMARK    GeneRIF: New ZNF469 Mutations in Spanish Siblings With Brittle
            Cornea Syndrome.
REFERENCE   4  (residues 1 to 3953)
  AUTHORS   Benz,C., Ali,M., Krystkowiak,I., Simonetti,L., Sayadi,A.,
            Mihalic,F., Kliche,J., Andersson,E., Jemth,P., Davey,N.E. and
            Ivarsson,Y.
  TITLE     Proteome-scale mapping of binding sites in the unstructured regions
            of the human proteome
  JOURNAL   Mol Syst Biol 18 (1), e10584 (2022)
   PUBMED   35044719
REFERENCE   5  (residues 1 to 3953)
  AUTHORS   Lovering,R.C., Gaudet,P., Acencio,M.L., Ignatchenko,A., Jolma,A.,
            Fornes,O., Kuiper,M., Kulakovskiy,I.V., Laegreid,A., Martin,M.J.
            and Logie,C.
  TITLE     A GO catalogue of human DNA-binding transcription factors
  JOURNAL   Biochim Biophys Acta Gene Regul Mech 1864 (11-12), 194765 (2021)
   PUBMED   34673265
REFERENCE   6  (residues 1 to 3953)
  AUTHORS   Vitart,V., Bencic,G., Hayward,C., Skunca Herman,J., Huffman,J.,
            Campbell,S., Bucan,K., Navarro,P., Gunjaca,G., Marin,J., Zgaga,L.,
            Kolcic,I., Polasek,O., Kirin,M., Hastie,N.D., Wilson,J.F.,
            Rudan,I., Campbell,H., Vatavuk,Z., Fleck,B. and Wright,A.
  TITLE     New loci associated with central cornea thickness include COL5A1,
            AKAP13 and AVGR8
  JOURNAL   Hum Mol Genet 19 (21), 4304-4311 (2010)
   PUBMED   20719862
  REMARK    GeneRIF: Observational study, meta-analysis, and genome-wide
            association study of gene-disease association. (HuGE Navigator)
REFERENCE   7  (residues 1 to 3953)
  AUTHORS   Khan,A.O., Aldahmesh,M.A., Mohamed,J.N. and Alkuraya,F.S.
  TITLE     Blue sclera with and without corneal fragility (brittle cornea
            syndrome) in a consanguineous family harboring ZNF469 mutation
            (p.E1392X)
  JOURNAL   Arch Ophthalmol 128 (10), 1376-1379 (2010)
   PUBMED   20938016
  REMARK    GeneRIF: ZNF469 mutation may predispose to childhood blue sclera
            without BCS only in certain individuals, depending on other genetic
            and/or environmental conditions
REFERENCE   8  (residues 1 to 3953)
  AUTHORS   Lu,Y., Dimasi,D.P., Hysi,P.G., Hewitt,A.W., Burdon,K.P., Toh,T.,
            Ruddle,J.B., Li,Y.J., Mitchell,P., Healey,P.R., Montgomery,G.W.,
            Hansell,N., Spector,T.D., Martin,N.G., Young,T.L., Hammond,C.J.,
            Macgregor,S., Craig,J.E. and Mackey,D.A.
  TITLE     Common genetic variants near the Brittle Cornea Syndrome locus
            ZNF469 influence the blinding disease risk factor central corneal
            thickness
  JOURNAL   PLoS Genet 6 (5), e1000947 (2010)
   PUBMED   20485516
  REMARK    GeneRIF: Observational study, meta-analysis, and genome-wide
            association study of gene-disease association. (HuGE Navigator)
            Publication Status: Online-Only
REFERENCE   9  (residues 1 to 3953)
  AUTHORS   Christensen,A.E., Knappskog,P.M., Midtbo,M., Gjesdal,C.G.,
            Mengel-From,J., Morling,N., Rodahl,E. and Boman,H.
  TITLE     Brittle cornea syndrome associated with a missense mutation in the
            zinc-finger 469 gene
  JOURNAL   Invest Ophthalmol Vis Sci 51 (1), 47-52 (2010)
   PUBMED   19661234
  REMARK    GeneRIF: The results confirm that BCS (brittle cornea syndrome) is
            associated with mutations in ZNF469.
REFERENCE   10 (residues 1 to 3953)
  AUTHORS   Abu,A., Frydman,M., Marek,D., Pras,E., Nir,U., Reznik-Wolf,H. and
            Pras,E.
  TITLE     Deleterious mutations in the Zinc-Finger 469 gene cause brittle
            cornea syndrome
  JOURNAL   Am J Hum Genet 82 (5), 1217-1222 (2008)
   PUBMED   18452888
  REMARK    GeneRIF: 30% homology to a number of collagens suggests that ZNF469
            could act as a transcription factor involved in the synthesis
            and/or organization of collagen fibers.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC132804.2, AC135049.2 and
            KF456226.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 29, 2019 this sequence version replaced XP_016879274.1.
            
            Summary: This gene encodes a zinc-finger protein. Low-percent
            homology to certain collagens suggests that it may function as a
            transcription factor or extra-nuclear regulator factor for the
            synthesis or organization of collagen fibers. Mutations in this
            gene cause brittle cornea syndrome. [provided by RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA2151405,
                              SAMEA2157511 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000565624.3/ ENSP00000456500.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..3953
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q24.2"
     Protein         1..3953
                     /product="zinc finger protein 469"
                     /calculated_mol_wt=413166
     Region          1..274
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96JG9.4)"
     Region          <2..422
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          <255..723
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          313..465
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96JG9.4)"
     Region          512..672
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96JG9.4)"
     Region          763..784
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96JG9.4)"
     Region          869..1383
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96JG9.4)"
     Region          <1130..1543
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          1400..1461
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96JG9.4)"
     Region          1575..1610
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96JG9.4)"
     Region          <1635..2272
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          1703..1864
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96JG9.4)"
     Region          1884..1947
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96JG9.4)"
     Region          1991..2030
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96JG9.4)"
     Region          2070..2700
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96JG9.4)"
     Region          <2147..2594
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          2716..2915
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96JG9.4)"
     Region          3001..3036
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96JG9.4)"
     Region          3072..3110
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96JG9.4)"
     Region          3117..3137
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(3122,3124,3126,3128..3129,3132..3133,3136,3151,3153,
                     3157..3158,3161,3182,3188,3190,3192..3193,3196..3197)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          3177..3197
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          3232..3322
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96JG9.4)"
     Region          3339..3359
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          3339..3359
                     /region_name="zf-C2H2"
                     /note="Zinc finger, C2H2 type; pfam00096"
                     /db_xref="CDD:395048"
     Site            order(3344,3346,3348,3350..3351,3354..3355,3358,3372,3374,
                     3378..3379,3382..3383,3397,3425,3427,3429,3431..3432,
                     3435..3436,3439)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          3367..3398
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          3420..3440
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          3448..3501
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96JG9.4)"
     Region          <3456..3938
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          3518..3559
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96JG9.4)"
     Region          3576..3925
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96JG9.4)"
     CDS             1..3953
                     /gene="ZNF469"
                     /gene_synonym="BCS; BCS1; Zfp469"
                     /coded_by="NM_001367624.2:488..12349"
                     /db_xref="CCDS:CCDS92205.1"
                     /db_xref="GeneID:84627"
                     /db_xref="HGNC:HGNC:23216"
                     /db_xref="MIM:612078"
ORIGIN      
        1 mpgerprgap pptmtgdlqp rqvasspghp sqppledntp atrttkgare aggqaqamel
       61 peaqprqard gelkppslrg qapsstpgkr gspqtppgrs plqapsrlag raegsppqry
      121 ilgiassrtk ptldetpenp qleaaqlpev dtpqgpgtga plrpglprte aqpaaeelgf
      181 hrcfqeppss ftstnytsps atprppapgp pqsrgtsplq pgsypeyqas gadswppaae
      241 nsfpganfgv ppaepepipk gsrpggsprg vsfqfpfpal hgastkpfpa dvaghaftng
      301 plvfafhqpq gawpeeavgt gpayplptqp apsplpcyqg qpgglnrhsd lsgalsspga
      361 ahsaprpfsd slhksltkil perppsaqdg lgstrgppss lpqrhfpgqa yrasgvdtsp
      421 gppdtelaap gppparlpql wdptaapypt ppggplaatr smffngqpsp gqrlclpqsa
      481 plpwpqvlpt arpsphgmem lsrlpfpagg pewqggsqga lgtagktpgp reklpavrss
      541 qggspalfty ngmtdpgaqp lffgvaqpqv sphgtpslpp prvvgaspse splpspatnt
      601 agstcsslsp mssspanpss eesqlpgplg psaffhppth pqetgspfps pepphslpth
      661 yqpepakafp fpadglgaeg afqcleetpf phegpevgrg glqgfprapp pypthhfsls
      721 sasldqldvl ltcrqcdrny sslaaflahr qfcglllara kdghqrspgp pglpsppaap
      781 rvpadahagl lshaktflla gdaqaegkdd plrtgflpsl aatpfplpas dldmeddakl
      841 dslitealng meyqsdnpei dssfidvfad eepsgprgps sghplkskag vtpeskappp
      901 lpaatpdpqt prpgdrgcpa rgrpktrslg lapteadaps qgrqqrrgkq lklfrkdlds
      961 ggaaegsgsg gggrasglrp rrndglgerp pprprrprtq apgsradpap rvpraaalpe
     1021 etrssrrrrl pprkdprkrk arggawgkel ilkivqqknr rhrrlgrrag rcgslaagrp
     1081 rpgaedrrlr eydfasesee deqppprgpg frgrrgrgek rkeveltqgp redepqkprk
     1141 aarqeaggdg apanpeepgg srpgpgrspq argpsrslet gaaareggpk cadrpsvapk
     1201 dplqvptnte tseetrpsld fpqeakepet aeesapdste ftealrsppa acagemgasp
     1261 gllipeqppp srhdtgtpkp sgslantaph gssptpgvgs llggpggtqa pvshnskdpp
     1321 arqpgeflap vanpsstacp kpsvlsskis sfgcdpagfn rdplgvpvak kgpqpyssph
     1381 selflgpkdl agcfleelhp kpsardappa sssclcqdge dagslepqlp rsppgtaete
     1441 pgraaspptl essslfpdlp vdrfdpplyg slsanrdsgl pfacadppqk tvpsdppyps
     1501 fllleevspm lpshfpdlsg gkvlsktcpp ertvvpgaap slpgkgsgcs valmshlsed
     1561 eleiqklvte lesqlqrskd trgaprelae aesvgrvelg tgteppsqrr tcqatvphed
     1621 tfsaadltrv gestahrega esavatveav qgrpggtwpc pasfhpghaa llpcaqedlv
     1681 sgapfsprga nfhfqpvqka gasktglcqa egdsrppqdv clpepskqpg pqldagslak
     1741 cspdqelsfp knkeaassqe sedslrllpc eqrggflpep gtadqphrga papeafgspa
     1801 vhlapdlafq gdgappldat wpfgaspsha aqghsagrag ghlhptagrp gfegnefapa
     1861 gassltaprg reawlvpvps pacvsnthps rrsqdpalsp pirqlqlpgp gvakskdgil
     1921 glqeltpaaq spprvnpsgl eggtveggkv acgpaqgspg gvqvttlpav aghqlglead
     1981 ghwgllgqae ktqgqgtanq lqpengvspg gtdnhasvna spktaltgpt egavllekck
     2041 gsraamslqe eaeptpspps pnreslalal taahsrsgse grtperassp glnkpllatg
     2101 dspapsvgdl aacapsptsa ahmpcslgpl predpltsps raqgglggql paspscrdpp
     2161 gpqqllacsp awapleeadg vqattdtgae dspvappslt tspcdpkeal agcllqgegs
     2221 pledpsswpp gsvsavtcth sgdtpkdstl ripedsrkek lwespgrats pplagavsps
     2281 vavratglss tptgdeaqag rglpgpdpqs rgapphtnpd rmprghssys psntarlghr
     2341 egqavtavpt epptlqgagp dspaclegem gtsskepedp gtpetgrsga tkmprvtcps
     2401 tglglgrtta psstasdfqs dspqshrnas hqtpqgdplg pqdlkqrsrg ykkkpasten
     2461 gqwkgqaphg pvtcevcaas frsgpglsrh karkhrphpg apaepspaal paqqplepla
     2521 qkcqpprkks hrvsgkerpn hsrgdpshvt qpppaqgske vlrapgsphs qqlhppspte
     2581 hevdvktpas kprpdqared elhpkqaekr egrrwrrept vdspshsegk snkkrgklrg
     2641 rrlreesilp vsadvisdgr gsrpspamas yaaspshcls veggpeadge qpprlatlgp
     2701 gvmegaaetd qealcagetg aqkppgdrml cpgrmdgaal geqptgqkga sargfwgpre
     2761 tkalgvckes gsepaedssr ahsrseegvw eentpplgpl gfpetssspa dsttssclqg
     2821 lpdnpdtqgg vqgpegptpd asgssakdpp slfddevsfs qlfppggrlt rkrnphvygk
     2881 rcekpvlplp tqpsfeeggd ptlgparlpt dlsdssslcl chedpweded paglpesfll
     2941 dgflnsrvpg idpwapglsl walepsreag aeklpshcpe ddrpeaipel hmvpaawrgl
     3001 empapaddss sslgdvspep pslerercdg glpgnthllp lratdfevls tkfemqdlcf
     3061 lgpfedpvgl pgpsfldfeg tassqgpqsr rteeaagagr aqgrgrpakg rrasykckvc
     3121 fqrfrslgel dlhklahtpa ppptcymcve rrfgsrellr ghlqerhaqs kagpwacgmc
     3181 lkevadvwmy nehlrehavr farrgqarrs lgdlpggleg ssavahllns itepapkhhr
     3241 gkrsagkaag spgdpwgqeg eakkdspger akprarstps npdgaatpds asataladag
     3301 spgpprttps pspdpwagge pllqatpvhe ackdpsrdch hcgkrfpkpf klqrhlavhs
     3361 pqrvylcprc prvypehgel lahlggahgl lerpelqhtp lyacelcatv mriikksfac
     3421 sscnytfakk eqfdrhmnkh lrggrqpfaf rgvrrpgapg qkaralegtl pskrrrvamp
     3481 gsapgpgedr ppprgsspil segslpallh lcsevapstt kgwpetlerp vdpvthpirg
     3541 celpsnhqec pppslspfpa aladgrgdca ldgalerpen easpgspgpl lqqalplgas
     3601 lprpgargqd aegkraplvf sgkrrapgar grcapdhfqe dhllqkekev ssshmvsegg
     3661 prgafhkgsa tkpagcqsss kdrsaastps kalkfpvhpr kavgslapge largtengmk
     3721 patpkakpgp ssqgsgsprp gtktgggsqp qpasgqlqse tattpakpsf psrspaperl
     3781 paraqaksct kgpreageqg phgslgpkek gesstkrkkg qvpgparses vgsfgrapsa
     3841 pdkpprtprk qatpsrvlpt kpkpnsqnkp rpppseqrka epghtqrkdr lgkafpqgrp
     3901 llrppkrgta vhgaepaeph thrtaeaqsd llsqlfgqrl tgfkiplkkd ase
//
