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Q96JG9

- ZN469_HUMAN

UniProt

Q96JG9 - ZN469_HUMAN

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Protein
Zinc finger protein 469
Gene
ZNF469, KIAA1858
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at transcript leveli

Functioni

May be involved in transcriptional regulation.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri2444 – 247027C2H2-type 1
Add
BLAST
Zinc fingeri3087 – 310923C2H2-type 2
Add
BLAST
Zinc fingeri3309 – 333123C2H2-type 3
Add
BLAST
Zinc fingeri3337 – 336024C2H2-type 4
Add
BLAST
Zinc fingeri3390 – 341425C2H2-type 5; degenerate
Add
BLAST

GO - Molecular functioni

  1. DNA binding Source: UniProtKB-KW
  2. metal ion binding Source: UniProtKB-KW

GO - Biological processi

  1. regulation of transcription, DNA-templated Source: UniProtKB-KW
  2. transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding, Metal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
Zinc finger protein 469
Gene namesi
Name:ZNF469
Synonyms:KIAA1858
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 16

Organism-specific databases

HGNCiHGNC:23216. ZNF469.

Subcellular locationi

Nucleus Reviewed prediction

GO - Cellular componenti

  1. nucleus Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Brittle cornea syndrome 1 (BCS1) [MIM:229200]: A disorder characterized by extreme corneal thinning resulting in corneal rupture after minor trauma, blue sclerae, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints. It shares some features with, but is much less severe than, the ocular form of Ehlers-Danlos syndrome (EDS6).
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication

Organism-specific databases

MIMi229200. phenotype.
Orphaneti90354. Brittle cornea syndrome.
PharmGKBiPA134861470.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 39253925Zinc finger protein 469
PRO_0000047602Add
BLAST

Proteomic databases

MaxQBiQ96JG9.
PaxDbiQ96JG9.
PRIDEiQ96JG9.

PTM databases

PhosphoSiteiQ96JG9.

Expressioni

Tissue specificityi

Detected in cornea, sclera, skin fibroblasts and striated muscle.1 Publication

Gene expression databases

ArrayExpressiQ96JG9.
BgeeiQ96JG9.
CleanExiHS_ZNF469.
GenevestigatoriQ96JG9.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000402343.

Structurei

3D structure databases

ProteinModelPortaliQ96JG9.
SMRiQ96JG9. Positions 3086-3170, 3310-3380.

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi2 – 713712Pro-rich
Add
BLAST
Compositional biasi974 – 104269Arg-rich
Add
BLAST
Compositional biasi1232 – 1515284Pro-rich
Add
BLAST

Sequence similaritiesi

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiNOG12793.
HOGENOMiHOG000155797.
PhylomeDBiQ96JG9.

Family and domain databases

InterProiIPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
[Graphical view]
PfamiPF00096. zf-C2H2. 1 hit.
[Graphical view]
SMARTiSM00355. ZnF_C2H2. 8 hits.
[Graphical view]
PROSITEiPS00028. ZINC_FINGER_C2H2_1. 6 hits.
PS50157. ZINC_FINGER_C2H2_2. 3 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q96JG9-1 [UniParc]FASTAAdd to Basket

« Hide

MPGERPRGAP PPTMTGDLQP RQVASSPGHP SQPPLEDNTP ATRTTKGARE     50
AGGQAQAMEL PEAQPRQARD GELKPPSLRG QAPSSTPGKR GSPQTPPGRS 100
PLQAPSRLAG RAEGSPPQRY ILGIASSRTK PTLDETPENP QLEAAQLPEV 150
DTPQGPGTGA PLRPGLPRTE AQPAAEELGF HRCFQEPPSS FTSTNYTSPS 200
ATPRPPAPGP PQSRGTSPLQ PGSYPEYQAS GADSWPPAAE NSFPGANFGV 250
PPAEPEPIPK GSRPGGSPRG VSFQFPFPAL HGASTKPFPA DVAGHAFTNG 300
PLVFAFHQPQ GAWPEEAVGT GPAYPLPTQP APSPLPCYQG QPGGLNRHSD 350
LSGALSSPGA AHSAPRPFSD SLHKSLTKIL PERPPSAQDG LGSTRGPPSS 400
LPQRHFPGQA YRASGVDTSP GPPDTELAAP GPPPARLPQL WDPTAAPYPT 450
PPGGPLAATR SMFFNGQPSP GQRLCLPQSA PLPWPQVLPT ARPSPHGMEM 500
LSRLPFPAGG PEWQGGSQGA LGTAGKTPGP REKLPAVRSS QGGSPALFTY 550
NGMTDPGAQP LFFGVAQPQV SPHGTPSLPP PRVVGASPSE SPLPSPATNT 600
AGSTCSSLSP MSSSPANPSS EESQLPGPLG PSAFFHPPTH PQETGSPFPS 650
PEPPHSLPTH YQPEPAKAFP FPADGLGAEG AFQCLEETPF PHEGPEVGRG 700
GLQGFPRAPP PYPTHHFSLS SASLDQLDVL LTCRQCDRNY SSLAAFLAHR 750
QFCGLLLARA KDGHQRSPGP PGLPSPPAAP RVPADAHAGL LSHAKTFLLA 800
GDAQAEGKDD PLRTGFLPSL AATPFPLPAS DLDMEDDAKL DSLITEALNG 850
MEYQSDNPEI DSSFIDVFAD EEPSGPRGPS SGHPLKSKAG VTPESKAPPP 900
LPAATPDPQT PRPGDRGCPA RGRPKTRSLG LAPTEADAPS QGRQQRRGKQ 950
LKLFRKDLDS GGAAEGSGSG GGGRASGLRP RRNDGLGERP PPRPRRPRTQ 1000
APGSRADPAP RVPRAAALPE ETRSSRRRRL PPRKDPRKRK ARGGAWGKEL 1050
ILKIVQQKNR LREYDFASES EEDEQPPPRG PGFRGRRGRG EKRKEVELTQ 1100
GPREDEPQKP RKAARQEAGG DGAPANPEEP GGSRPGPGRS PQARGPSRSL 1150
ETGAAAREGG PKCADRPSVA PKDPLQVPTN TETSEETRPS LDFPQEAKEP 1200
ETAEESAPDS TEFTEALRSP PAACAGEMGA SPGLLIPEQP PPSRHDTGTP 1250
KPSGSLANTA PHGSSPTPGV GSLLGGPGGT QAPVSHNSKD PPARQPGEFL 1300
APVANPSSTA CPKPSVLSSK ISSFGCDPAG FNRDPLGVPV AKKGPQPYSS 1350
PHSELFLGPK DLAGCFLEEL HPKPSARDAP PASSSCLCQD GEDAGSLEPQ 1400
LPRSPPGTAE TEPGRAASPP TLESSSLFPD LPVDRFDPPL YGSLSANRDS 1450
GLPFACADPP QKTVPSDPPY PSFLLLEEVS PMLPSHFPDL SGGKVLSKTC 1500
PPERTVVPGA APSLPGKGSG CSVALMSHLS EDELEIQKLV TELESQLQRS 1550
KDTRGAPREL AEAESVGRVE LGTGTEPPSQ RRTCQATVPH EDTFSAADLT 1600
RVGESTAHRE GAESAVATVE AVQGRPGGTW PCPASFHPGH AALLPCAQED 1650
LVSGAPFSPR GANFHFQPVQ KAGASKTGLC QAEGDSRPPQ DVCLPEPSKQ 1700
PGPQLDAGSL AKCSPDQELS FPKNKEAASS QESEDSLRLL PCEQRGGFLP 1750
EPGTADQPHR GAPAPEAFGS PAVHLAPDLA FQGDGAPPLD ATWPFGASPS 1800
HAAQGHSAGR AGGHLHPTAG RPGFEGNEFA PAGASSLTAP RGREAWLVPV 1850
PSPACVSNTH PSRRSQDPAL SPPIRQLQLP GPGVAKSKDG ILGLQELTPA 1900
AQSPPRVNPS GLEGGTVEGG KVACGPAQGS PGGVQVTTLP AVAGHQLGLE 1950
ADGHWGLLGQ AEKTQGQGTA NQLQPENGVS PGGTDNHASV NASPKTALTG 2000
PTEGAVLLEK CKGSRAAMSL QEEAEPTPSP PSPNRESLAL ALTAAHSRSG 2050
SEGRTPERAS SPGLNKPLLA TGDSPAPSVG DLAACAPSPT SAAHMPCSLG 2100
PLPREDPLTS PSRAQGGLGG QLPASPSCRD PPGPQQLLAC SPAWAPLEEA 2150
DGVQATTDTG AEDSPVAPPS LTTSPCDPKE ALAGCLLQGE GSPLEDPSSW 2200
PPGSVSAVTC THSGDTPKDS TLRIPEDSRK EKLWESPGRA TSPPLAGAVS 2250
PSVAVRATGL SSTPTGDEAQ AGRGLPGPDP QSRGAPPHTN PDRMPRGHSS 2300
YSPSNTARLG HREGQAVTAV PTEPPTLQGA GPDSPACLEG EMGTSSKEPE 2350
DPGTPETGRS GATKMPRVTC PSTGLGLGRT TAPSSTASDF QSDSPQSHRN 2400
ASHQTPQGDP LGPQDLKQRS RGYKKKPAST ENGQWKGQAP HGPVTCEVCA 2450
ASFRSGPGLS RHKARKHRPH PGAPAEPSPA ALPAQQPLEP LAQKCQPPRK 2500
KSHRVSGKER PNHSRGDPSH VTQPPPAQGS KEVLRAPGSP HSQQLHPPSP 2550
TEHEVDVKTP ASKPRPDQAR EDELHPKQAE KREGRRWRRE PTVDSPSHSE 2600
GKSNKKRGKL RGRRLREESI LPVSADVISD GRGSRPSPAM ASYAASPSHC 2650
LSVEGGPEAD GEQPPRLATL GPGVMEGAAE TDQEALCAGE TGAQKPPGDR 2700
MLCPGRMDGA ALGEQPTGQK GASARGFWGP RETKALGVCK ESGSEPAEDS 2750
SRAHSRSEEG VWEENTPPLG PLGFPETSSS PADSTTSSCL QGLPDNPDTQ 2800
GGVQGPEGPT PDASGSSAKD PPSLFDDEVS FSQLFPPGGR LTRKRNPHVY 2850
GKRCEKPVLP LPTQPSFEEG GDPTLGPARL PTDLSDSSSL CLCHEDPWED 2900
EDPAGLPESF LLDGFLNSRV PGIDPWAPGL SLWALEPSRE AGAEKLPSHC 2950
PEDDRPEAIP ELHMVPAAWR GLEMPAPADD SSSSLGDVSP EPPSLERERC 3000
DGGLPGNTHL LPLRATDFEV LSTKFEMQDL CFLGPFEDPV GLPGPSFLDF 3050
EGTASSQGPQ SRRTEEAAGA GRAQGRGRPA KGRRASYKCK VCFQRFRSLG 3100
ELDLHKLAHT PAPPPTCYMC VERRFGSREL LRGHLQERHA QSKAGPWACG 3150
MCLKEVADVW MYNEHLREHA VRFARRGQAR RSLGDLPGGL EGSSAVAHLL 3200
NSITEPAPKH HRGKRSAGKA AGSPGDPWGQ EGEAKKDSPG ERAKPRARST 3250
PSNPDGAATP DSASATALAD AGSPGPPRTT PSPSPDPWAG GEPLLQATPV 3300
HEACKDPSRD CHHCGKRFPK PFKLQRHLAV HSPQRVYLCP RCPRVYPEHG 3350
ELLAHLGGAH GLLERPELQH TPLYACELCA TVMRIIKKSF ACSSCNYTFA 3400
KKEQFDRHMN KHLRGGRQPF AFRGVRRPGA PGQKARALEG TLPSKRRRVA 3450
MPGSAPGPGE DRPPPRGSSP ILSEGSLPAL LHLCSEVAPS TTKGWPETLE 3500
RPVDPVTHPI RGCELPSNHQ ECPPPSLSPF PAALADGRGD CALDGALERP 3550
ENEASPGSPG PLLQQALPLG ASLPRPGARG QDAEGKRAPL VFSGKRRAPG 3600
ARGRCAPDHF QEDHLLQKEK EVSSSHMVSE GGPRGTFHKG SATKPAGCQS 3650
SSKDRSAAST PSKALKFPVH PRKAVGSLAP GELARGTENG MKPATPKAKP 3700
GPSSQGSGSP RPGTKTGGGS QPQPASGQLQ SETATTPAKP SFPSRSPAPE 3750
RLPARAQAKS CTKGPREAGE QGPHGSLGPK EKGESSTKRK KGQVPGPARS 3800
ESVGSFGRAP SAPDKPPRTP RKQATPSRVL PTKPKPNSQN KPRPPPSEQR 3850
KAEPGHTQRK DRLGKAFPQG RPLLRPPKRG TAVHGAEPAE PHTHRTAEAQ 3900
SDLLSQLFGQ RLTGFKIPLK KDASE 3925
Length:3,925
Mass (Da):410,202
Last modified:July 24, 2007 - v3
Checksum:i7F4DDFA690574319
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti357 – 3571S → P.
Corresponds to variant rs11648572 [ dbSNP | Ensembl ].
VAR_061949
Natural varianti366 – 3661R → S.
Corresponds to variant rs11640794 [ dbSNP | Ensembl ].
VAR_033285
Natural varianti1162 – 11621K → E.
Corresponds to variant rs7197071 [ dbSNP | Ensembl ].
VAR_033286
Natural varianti1420 – 14201P → L.
Corresponds to variant rs4782300 [ dbSNP | Ensembl ].
VAR_033287
Natural varianti2129 – 21291R → K.
Corresponds to variant rs13334190 [ dbSNP | Ensembl ].
VAR_033288
Natural varianti2358 – 23581G → R.1 Publication
Corresponds to variant rs12598474 [ dbSNP | Ensembl ].
VAR_033289
Natural varianti2670 – 26701L → Q.1 Publication
Corresponds to variant rs3812956 [ dbSNP | Ensembl ].
VAR_033290
Natural varianti2710 – 27101A → T.
Corresponds to variant rs3812955 [ dbSNP | Ensembl ].
VAR_033291
Natural varianti2749 – 27491D → V.
Corresponds to variant rs3812954 [ dbSNP | Ensembl ].
VAR_033292
Natural varianti2848 – 28481H → R.1 Publication
Corresponds to variant rs1983014 [ dbSNP | Ensembl ].
VAR_033293
Natural varianti3630 – 36301E → Q.1 Publication
Corresponds to variant rs1105066 [ dbSNP | Ensembl ].
VAR_033294
Natural varianti3636 – 36361T → A.1 Publication
Corresponds to variant rs904783 [ dbSNP | Ensembl ].
VAR_033295

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AC135049 Genomic DNA. No translation available.
AB058761 mRNA. Translation: BAB47487.2.
CCDSiCCDS45544.1.
RefSeqiNP_001120936.1. NM_001127464.1.
UniGeneiHs.54925.

Genome annotation databases

EnsembliENST00000437464; ENSP00000402343; ENSG00000225614.
GeneIDi84627.
KEGGihsa:84627.
UCSCiuc002fku.2. human.

Polymorphism databases

DMDMi158518658.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AC135049 Genomic DNA. No translation available.
AB058761 mRNA. Translation: BAB47487.2 .
CCDSi CCDS45544.1.
RefSeqi NP_001120936.1. NM_001127464.1.
UniGenei Hs.54925.

3D structure databases

ProteinModelPortali Q96JG9.
SMRi Q96JG9. Positions 3086-3170, 3310-3380.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000402343.

PTM databases

PhosphoSitei Q96JG9.

Polymorphism databases

DMDMi 158518658.

Proteomic databases

MaxQBi Q96JG9.
PaxDbi Q96JG9.
PRIDEi Q96JG9.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000437464 ; ENSP00000402343 ; ENSG00000225614 .
GeneIDi 84627.
KEGGi hsa:84627.
UCSCi uc002fku.2. human.

Organism-specific databases

CTDi 84627.
GeneCardsi GC16P088493.
HGNCi HGNC:23216. ZNF469.
MIMi 229200. phenotype.
612078. gene.
neXtProti NX_Q96JG9.
Orphaneti 90354. Brittle cornea syndrome.
PharmGKBi PA134861470.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG12793.
HOGENOMi HOG000155797.
PhylomeDBi Q96JG9.

Miscellaneous databases

GenomeRNAii 84627.
NextBioi 74528.
PROi Q96JG9.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q96JG9.
Bgeei Q96JG9.
CleanExi HS_ZNF469.
Genevestigatori Q96JG9.

Family and domain databases

InterProi IPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
[Graphical view ]
Pfami PF00096. zf-C2H2. 1 hit.
[Graphical view ]
SMARTi SM00355. ZnF_C2H2. 8 hits.
[Graphical view ]
PROSITEi PS00028. ZINC_FINGER_C2H2_1. 6 hits.
PS50157. ZINC_FINGER_C2H2_2. 3 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "The sequence and analysis of duplication-rich human chromosome 16."
    Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J.
    , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
    Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  2. "Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
    Nagase T., Nakayama M., Nakajima D., Kikuno R., Ohara O.
    DNA Res. 8:85-95(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1457-3925, VARIANTS ARG-2358 AND GLN-2670 AND ARG-2848 AND GLN-3630 AND ALA-3636.
    Tissue: Brain.
  3. Ohara O., Nagase T., Kikuno R.
    Submitted (AUG-2005) to the EMBL/GenBank/DDBJ databases
    Cited for: SEQUENCE REVISION.
  4. "Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome."
    Abu A., Frydman M., Marek D., Pras E., Nir U., Reznik-Wolf H., Pras E.
    Am. J. Hum. Genet. 82:1217-1222(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN BCS1, TISSUE SPECIFICITY.

Entry informationi

Entry nameiZN469_HUMAN
AccessioniPrimary (citable) accession number: Q96JG9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 24, 2003
Last sequence update: July 24, 2007
Last modified: July 9, 2014
This is version 102 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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