Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q96JG9 (ZN469_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 102. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Zinc finger protein 469
Gene names
Name:ZNF469
Synonyms:KIAA1858
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length3925 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

May be involved in transcriptional regulation.

Subcellular location

Nucleus Potential.

Tissue specificity

Detected in cornea, sclera, skin fibroblasts and striated muscle. Ref.4

Involvement in disease

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. Ref.4

Sequence similarities

Belongs to the krueppel C2H2-type zinc-finger protein family.

Contains 5 C2H2-type zinc fingers.

Ontologies

Keywords
   Biological processTranscription
Transcription regulation
   Cellular componentNucleus
   Coding sequence diversityPolymorphism
   DomainRepeat
Zinc-finger
   LigandDNA-binding
Metal-binding
Zinc
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processregulation of transcription, DNA-templated

Inferred from electronic annotation. Source: UniProtKB-KW

transcription, DNA-templated

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentnucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionDNA binding

Inferred from electronic annotation. Source: UniProtKB-KW

metal ion binding

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 39253925Zinc finger protein 469
PRO_0000047602

Regions

Zinc finger2444 – 247027C2H2-type 1
Zinc finger3087 – 310923C2H2-type 2
Zinc finger3309 – 333123C2H2-type 3
Zinc finger3337 – 336024C2H2-type 4
Zinc finger3390 – 341425C2H2-type 5; degenerate
Compositional bias2 – 713712Pro-rich
Compositional bias974 – 104269Arg-rich
Compositional bias1232 – 1515284Pro-rich

Natural variations

Natural variant3571S → P.
Corresponds to variant rs11648572 [ dbSNP | Ensembl ].
VAR_061949
Natural variant3661R → S.
Corresponds to variant rs11640794 [ dbSNP | Ensembl ].
VAR_033285
Natural variant11621K → E.
Corresponds to variant rs7197071 [ dbSNP | Ensembl ].
VAR_033286
Natural variant14201P → L.
Corresponds to variant rs4782300 [ dbSNP | Ensembl ].
VAR_033287
Natural variant21291R → K.
Corresponds to variant rs13334190 [ dbSNP | Ensembl ].
VAR_033288
Natural variant23581G → R. Ref.2
Corresponds to variant rs12598474 [ dbSNP | Ensembl ].
VAR_033289
Natural variant26701L → Q. Ref.2
Corresponds to variant rs3812956 [ dbSNP | Ensembl ].
VAR_033290
Natural variant27101A → T.
Corresponds to variant rs3812955 [ dbSNP | Ensembl ].
VAR_033291
Natural variant27491D → V.
Corresponds to variant rs3812954 [ dbSNP | Ensembl ].
VAR_033292
Natural variant28481H → R. Ref.2
Corresponds to variant rs1983014 [ dbSNP | Ensembl ].
VAR_033293
Natural variant36301E → Q. Ref.2
Corresponds to variant rs1105066 [ dbSNP | Ensembl ].
VAR_033294
Natural variant36361T → A. Ref.2
Corresponds to variant rs904783 [ dbSNP | Ensembl ].
VAR_033295

Sequences

Sequence LengthMass (Da)Tools
Q96JG9 [UniParc].

Last modified July 24, 2007. Version 3.
Checksum: 7F4DDFA690574319

FASTA3,925410,202
        10         20         30         40         50         60 
MPGERPRGAP PPTMTGDLQP RQVASSPGHP SQPPLEDNTP ATRTTKGARE AGGQAQAMEL 

        70         80         90        100        110        120 
PEAQPRQARD GELKPPSLRG QAPSSTPGKR GSPQTPPGRS PLQAPSRLAG RAEGSPPQRY 

       130        140        150        160        170        180 
ILGIASSRTK PTLDETPENP QLEAAQLPEV DTPQGPGTGA PLRPGLPRTE AQPAAEELGF 

       190        200        210        220        230        240 
HRCFQEPPSS FTSTNYTSPS ATPRPPAPGP PQSRGTSPLQ PGSYPEYQAS GADSWPPAAE 

       250        260        270        280        290        300 
NSFPGANFGV PPAEPEPIPK GSRPGGSPRG VSFQFPFPAL HGASTKPFPA DVAGHAFTNG 

       310        320        330        340        350        360 
PLVFAFHQPQ GAWPEEAVGT GPAYPLPTQP APSPLPCYQG QPGGLNRHSD LSGALSSPGA 

       370        380        390        400        410        420 
AHSAPRPFSD SLHKSLTKIL PERPPSAQDG LGSTRGPPSS LPQRHFPGQA YRASGVDTSP 

       430        440        450        460        470        480 
GPPDTELAAP GPPPARLPQL WDPTAAPYPT PPGGPLAATR SMFFNGQPSP GQRLCLPQSA 

       490        500        510        520        530        540 
PLPWPQVLPT ARPSPHGMEM LSRLPFPAGG PEWQGGSQGA LGTAGKTPGP REKLPAVRSS 

       550        560        570        580        590        600 
QGGSPALFTY NGMTDPGAQP LFFGVAQPQV SPHGTPSLPP PRVVGASPSE SPLPSPATNT 

       610        620        630        640        650        660 
AGSTCSSLSP MSSSPANPSS EESQLPGPLG PSAFFHPPTH PQETGSPFPS PEPPHSLPTH 

       670        680        690        700        710        720 
YQPEPAKAFP FPADGLGAEG AFQCLEETPF PHEGPEVGRG GLQGFPRAPP PYPTHHFSLS 

       730        740        750        760        770        780 
SASLDQLDVL LTCRQCDRNY SSLAAFLAHR QFCGLLLARA KDGHQRSPGP PGLPSPPAAP 

       790        800        810        820        830        840 
RVPADAHAGL LSHAKTFLLA GDAQAEGKDD PLRTGFLPSL AATPFPLPAS DLDMEDDAKL 

       850        860        870        880        890        900 
DSLITEALNG MEYQSDNPEI DSSFIDVFAD EEPSGPRGPS SGHPLKSKAG VTPESKAPPP 

       910        920        930        940        950        960 
LPAATPDPQT PRPGDRGCPA RGRPKTRSLG LAPTEADAPS QGRQQRRGKQ LKLFRKDLDS 

       970        980        990       1000       1010       1020 
GGAAEGSGSG GGGRASGLRP RRNDGLGERP PPRPRRPRTQ APGSRADPAP RVPRAAALPE 

      1030       1040       1050       1060       1070       1080 
ETRSSRRRRL PPRKDPRKRK ARGGAWGKEL ILKIVQQKNR LREYDFASES EEDEQPPPRG 

      1090       1100       1110       1120       1130       1140 
PGFRGRRGRG EKRKEVELTQ GPREDEPQKP RKAARQEAGG DGAPANPEEP GGSRPGPGRS 

      1150       1160       1170       1180       1190       1200 
PQARGPSRSL ETGAAAREGG PKCADRPSVA PKDPLQVPTN TETSEETRPS LDFPQEAKEP 

      1210       1220       1230       1240       1250       1260 
ETAEESAPDS TEFTEALRSP PAACAGEMGA SPGLLIPEQP PPSRHDTGTP KPSGSLANTA 

      1270       1280       1290       1300       1310       1320 
PHGSSPTPGV GSLLGGPGGT QAPVSHNSKD PPARQPGEFL APVANPSSTA CPKPSVLSSK 

      1330       1340       1350       1360       1370       1380 
ISSFGCDPAG FNRDPLGVPV AKKGPQPYSS PHSELFLGPK DLAGCFLEEL HPKPSARDAP 

      1390       1400       1410       1420       1430       1440 
PASSSCLCQD GEDAGSLEPQ LPRSPPGTAE TEPGRAASPP TLESSSLFPD LPVDRFDPPL 

      1450       1460       1470       1480       1490       1500 
YGSLSANRDS GLPFACADPP QKTVPSDPPY PSFLLLEEVS PMLPSHFPDL SGGKVLSKTC 

      1510       1520       1530       1540       1550       1560 
PPERTVVPGA APSLPGKGSG CSVALMSHLS EDELEIQKLV TELESQLQRS KDTRGAPREL 

      1570       1580       1590       1600       1610       1620 
AEAESVGRVE LGTGTEPPSQ RRTCQATVPH EDTFSAADLT RVGESTAHRE GAESAVATVE 

      1630       1640       1650       1660       1670       1680 
AVQGRPGGTW PCPASFHPGH AALLPCAQED LVSGAPFSPR GANFHFQPVQ KAGASKTGLC 

      1690       1700       1710       1720       1730       1740 
QAEGDSRPPQ DVCLPEPSKQ PGPQLDAGSL AKCSPDQELS FPKNKEAASS QESEDSLRLL 

      1750       1760       1770       1780       1790       1800 
PCEQRGGFLP EPGTADQPHR GAPAPEAFGS PAVHLAPDLA FQGDGAPPLD ATWPFGASPS 

      1810       1820       1830       1840       1850       1860 
HAAQGHSAGR AGGHLHPTAG RPGFEGNEFA PAGASSLTAP RGREAWLVPV PSPACVSNTH 

      1870       1880       1890       1900       1910       1920 
PSRRSQDPAL SPPIRQLQLP GPGVAKSKDG ILGLQELTPA AQSPPRVNPS GLEGGTVEGG 

      1930       1940       1950       1960       1970       1980 
KVACGPAQGS PGGVQVTTLP AVAGHQLGLE ADGHWGLLGQ AEKTQGQGTA NQLQPENGVS 

      1990       2000       2010       2020       2030       2040 
PGGTDNHASV NASPKTALTG PTEGAVLLEK CKGSRAAMSL QEEAEPTPSP PSPNRESLAL 

      2050       2060       2070       2080       2090       2100 
ALTAAHSRSG SEGRTPERAS SPGLNKPLLA TGDSPAPSVG DLAACAPSPT SAAHMPCSLG 

      2110       2120       2130       2140       2150       2160 
PLPREDPLTS PSRAQGGLGG QLPASPSCRD PPGPQQLLAC SPAWAPLEEA DGVQATTDTG 

      2170       2180       2190       2200       2210       2220 
AEDSPVAPPS LTTSPCDPKE ALAGCLLQGE GSPLEDPSSW PPGSVSAVTC THSGDTPKDS 

      2230       2240       2250       2260       2270       2280 
TLRIPEDSRK EKLWESPGRA TSPPLAGAVS PSVAVRATGL SSTPTGDEAQ AGRGLPGPDP 

      2290       2300       2310       2320       2330       2340 
QSRGAPPHTN PDRMPRGHSS YSPSNTARLG HREGQAVTAV PTEPPTLQGA GPDSPACLEG 

      2350       2360       2370       2380       2390       2400 
EMGTSSKEPE DPGTPETGRS GATKMPRVTC PSTGLGLGRT TAPSSTASDF QSDSPQSHRN 

      2410       2420       2430       2440       2450       2460 
ASHQTPQGDP LGPQDLKQRS RGYKKKPAST ENGQWKGQAP HGPVTCEVCA ASFRSGPGLS 

      2470       2480       2490       2500       2510       2520 
RHKARKHRPH PGAPAEPSPA ALPAQQPLEP LAQKCQPPRK KSHRVSGKER PNHSRGDPSH 

      2530       2540       2550       2560       2570       2580 
VTQPPPAQGS KEVLRAPGSP HSQQLHPPSP TEHEVDVKTP ASKPRPDQAR EDELHPKQAE 

      2590       2600       2610       2620       2630       2640 
KREGRRWRRE PTVDSPSHSE GKSNKKRGKL RGRRLREESI LPVSADVISD GRGSRPSPAM 

      2650       2660       2670       2680       2690       2700 
ASYAASPSHC LSVEGGPEAD GEQPPRLATL GPGVMEGAAE TDQEALCAGE TGAQKPPGDR 

      2710       2720       2730       2740       2750       2760 
MLCPGRMDGA ALGEQPTGQK GASARGFWGP RETKALGVCK ESGSEPAEDS SRAHSRSEEG 

      2770       2780       2790       2800       2810       2820 
VWEENTPPLG PLGFPETSSS PADSTTSSCL QGLPDNPDTQ GGVQGPEGPT PDASGSSAKD 

      2830       2840       2850       2860       2870       2880 
PPSLFDDEVS FSQLFPPGGR LTRKRNPHVY GKRCEKPVLP LPTQPSFEEG GDPTLGPARL 

      2890       2900       2910       2920       2930       2940 
PTDLSDSSSL CLCHEDPWED EDPAGLPESF LLDGFLNSRV PGIDPWAPGL SLWALEPSRE 

      2950       2960       2970       2980       2990       3000 
AGAEKLPSHC PEDDRPEAIP ELHMVPAAWR GLEMPAPADD SSSSLGDVSP EPPSLERERC 

      3010       3020       3030       3040       3050       3060 
DGGLPGNTHL LPLRATDFEV LSTKFEMQDL CFLGPFEDPV GLPGPSFLDF EGTASSQGPQ 

      3070       3080       3090       3100       3110       3120 
SRRTEEAAGA GRAQGRGRPA KGRRASYKCK VCFQRFRSLG ELDLHKLAHT PAPPPTCYMC 

      3130       3140       3150       3160       3170       3180 
VERRFGSREL LRGHLQERHA QSKAGPWACG MCLKEVADVW MYNEHLREHA VRFARRGQAR 

      3190       3200       3210       3220       3230       3240 
RSLGDLPGGL EGSSAVAHLL NSITEPAPKH HRGKRSAGKA AGSPGDPWGQ EGEAKKDSPG 

      3250       3260       3270       3280       3290       3300 
ERAKPRARST PSNPDGAATP DSASATALAD AGSPGPPRTT PSPSPDPWAG GEPLLQATPV 

      3310       3320       3330       3340       3350       3360 
HEACKDPSRD CHHCGKRFPK PFKLQRHLAV HSPQRVYLCP RCPRVYPEHG ELLAHLGGAH 

      3370       3380       3390       3400       3410       3420 
GLLERPELQH TPLYACELCA TVMRIIKKSF ACSSCNYTFA KKEQFDRHMN KHLRGGRQPF 

      3430       3440       3450       3460       3470       3480 
AFRGVRRPGA PGQKARALEG TLPSKRRRVA MPGSAPGPGE DRPPPRGSSP ILSEGSLPAL 

      3490       3500       3510       3520       3530       3540 
LHLCSEVAPS TTKGWPETLE RPVDPVTHPI RGCELPSNHQ ECPPPSLSPF PAALADGRGD 

      3550       3560       3570       3580       3590       3600 
CALDGALERP ENEASPGSPG PLLQQALPLG ASLPRPGARG QDAEGKRAPL VFSGKRRAPG 

      3610       3620       3630       3640       3650       3660 
ARGRCAPDHF QEDHLLQKEK EVSSSHMVSE GGPRGTFHKG SATKPAGCQS SSKDRSAAST 

      3670       3680       3690       3700       3710       3720 
PSKALKFPVH PRKAVGSLAP GELARGTENG MKPATPKAKP GPSSQGSGSP RPGTKTGGGS 

      3730       3740       3750       3760       3770       3780 
QPQPASGQLQ SETATTPAKP SFPSRSPAPE RLPARAQAKS CTKGPREAGE QGPHGSLGPK 

      3790       3800       3810       3820       3830       3840 
EKGESSTKRK KGQVPGPARS ESVGSFGRAP SAPDKPPRTP RKQATPSRVL PTKPKPNSQN 

      3850       3860       3870       3880       3890       3900 
KPRPPPSEQR KAEPGHTQRK DRLGKAFPQG RPLLRPPKRG TAVHGAEPAE PHTHRTAEAQ 

      3910       3920 
SDLLSQLFGQ RLTGFKIPLK KDASE 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AC135049 Genomic DNA. No translation available.
AB058761 mRNA. Translation: BAB47487.2.
CCDSCCDS45544.1.
RefSeqNP_001120936.1. NM_001127464.1.
UniGeneHs.54925.

3D structure databases

ProteinModelPortalQ96JG9.
SMRQ96JG9. Positions 3086-3170, 3310-3380.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000402343.

PTM databases

PhosphoSiteQ96JG9.

Polymorphism databases

DMDM158518658.

Proteomic databases

MaxQBQ96JG9.
PaxDbQ96JG9.
PRIDEQ96JG9.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000437464; ENSP00000402343; ENSG00000225614.
GeneID84627.
KEGGhsa:84627.
UCSCuc002fku.2. human.

Organism-specific databases

CTD84627.
GeneCardsGC16P088493.
HGNCHGNC:23216. ZNF469.
MIM229200. phenotype.
612078. gene.
neXtProtNX_Q96JG9.
Orphanet90354. Brittle cornea syndrome.
PharmGKBPA134861470.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG12793.
HOGENOMHOG000155797.
PhylomeDBQ96JG9.

Gene expression databases

ArrayExpressQ96JG9.
BgeeQ96JG9.
CleanExHS_ZNF469.
GenevestigatorQ96JG9.

Family and domain databases

InterProIPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
[Graphical view]
PfamPF00096. zf-C2H2. 1 hit.
[Graphical view]
SMARTSM00355. ZnF_C2H2. 8 hits.
[Graphical view]
PROSITEPS00028. ZINC_FINGER_C2H2_1. 6 hits.
PS50157. ZINC_FINGER_C2H2_2. 3 hits.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi84627.
NextBio74528.
PROQ96JG9.
SOURCESearch...

Entry information

Entry nameZN469_HUMAN
AccessionPrimary (citable) accession number: Q96JG9
Entry history
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 statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 16

Human chromosome 16: entries, gene names and cross-references to MIM