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Q96JG9

- ZN469_HUMAN

UniProt

Q96JG9 - ZN469_HUMAN

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Protein

Zinc finger protein 469

Gene

ZNF469

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 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 1PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri3087 – 310923C2H2-type 2PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri3309 – 333123C2H2-type 3PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri3337 – 336024C2H2-type 4PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri3390 – 341425C2H2-type 5; degeneratePROSITE-ProRule annotationAdd
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 Curated

GO - Cellular componenti

  1. nucleus Source: UniProtKB-KW
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).1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.

Organism-specific databases

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

PTM / Processingi

Molecule processing

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

BgeeiQ96JG9.
CleanExiHS_ZNF469.
GenevestigatoriQ96JG9.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000402343.

Structurei

3D structure databases

ProteinModelPortaliQ96JG9.
SMRiQ96JG9. Positions 3310-3340, 3386-3421.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

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

Sequence similaritiesi

Contains 5 C2H2-type zinc fingers.PROSITE-ProRule annotation

Zinc finger

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

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiNOG12793.
HOGENOMiHOG000155797.
InParanoidiQ96JG9.
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

        10         20         30         40         50
MPGERPRGAP PPTMTGDLQP RQVASSPGHP SQPPLEDNTP ATRTTKGARE
60 70 80 90 100
AGGQAQAMEL PEAQPRQARD GELKPPSLRG QAPSSTPGKR GSPQTPPGRS
110 120 130 140 150
PLQAPSRLAG RAEGSPPQRY ILGIASSRTK PTLDETPENP QLEAAQLPEV
160 170 180 190 200
DTPQGPGTGA PLRPGLPRTE AQPAAEELGF HRCFQEPPSS FTSTNYTSPS
210 220 230 240 250
ATPRPPAPGP PQSRGTSPLQ PGSYPEYQAS GADSWPPAAE NSFPGANFGV
260 270 280 290 300
PPAEPEPIPK GSRPGGSPRG VSFQFPFPAL HGASTKPFPA DVAGHAFTNG
310 320 330 340 350
PLVFAFHQPQ GAWPEEAVGT GPAYPLPTQP APSPLPCYQG QPGGLNRHSD
360 370 380 390 400
LSGALSSPGA AHSAPRPFSD SLHKSLTKIL PERPPSAQDG LGSTRGPPSS
410 420 430 440 450
LPQRHFPGQA YRASGVDTSP GPPDTELAAP GPPPARLPQL WDPTAAPYPT
460 470 480 490 500
PPGGPLAATR SMFFNGQPSP GQRLCLPQSA PLPWPQVLPT ARPSPHGMEM
510 520 530 540 550
LSRLPFPAGG PEWQGGSQGA LGTAGKTPGP REKLPAVRSS QGGSPALFTY
560 570 580 590 600
NGMTDPGAQP LFFGVAQPQV SPHGTPSLPP PRVVGASPSE SPLPSPATNT
610 620 630 640 650
AGSTCSSLSP MSSSPANPSS EESQLPGPLG PSAFFHPPTH PQETGSPFPS
660 670 680 690 700
PEPPHSLPTH YQPEPAKAFP FPADGLGAEG AFQCLEETPF PHEGPEVGRG
710 720 730 740 750
GLQGFPRAPP PYPTHHFSLS SASLDQLDVL LTCRQCDRNY SSLAAFLAHR
760 770 780 790 800
QFCGLLLARA KDGHQRSPGP PGLPSPPAAP RVPADAHAGL LSHAKTFLLA
810 820 830 840 850
GDAQAEGKDD PLRTGFLPSL AATPFPLPAS DLDMEDDAKL DSLITEALNG
860 870 880 890 900
MEYQSDNPEI DSSFIDVFAD EEPSGPRGPS SGHPLKSKAG VTPESKAPPP
910 920 930 940 950
LPAATPDPQT PRPGDRGCPA RGRPKTRSLG LAPTEADAPS QGRQQRRGKQ
960 970 980 990 1000
LKLFRKDLDS GGAAEGSGSG GGGRASGLRP RRNDGLGERP PPRPRRPRTQ
1010 1020 1030 1040 1050
APGSRADPAP RVPRAAALPE ETRSSRRRRL PPRKDPRKRK ARGGAWGKEL
1060 1070 1080 1090 1100
ILKIVQQKNR LREYDFASES EEDEQPPPRG PGFRGRRGRG EKRKEVELTQ
1110 1120 1130 1140 1150
GPREDEPQKP RKAARQEAGG DGAPANPEEP GGSRPGPGRS PQARGPSRSL
1160 1170 1180 1190 1200
ETGAAAREGG PKCADRPSVA PKDPLQVPTN TETSEETRPS LDFPQEAKEP
1210 1220 1230 1240 1250
ETAEESAPDS TEFTEALRSP PAACAGEMGA SPGLLIPEQP PPSRHDTGTP
1260 1270 1280 1290 1300
KPSGSLANTA PHGSSPTPGV GSLLGGPGGT QAPVSHNSKD PPARQPGEFL
1310 1320 1330 1340 1350
APVANPSSTA CPKPSVLSSK ISSFGCDPAG FNRDPLGVPV AKKGPQPYSS
1360 1370 1380 1390 1400
PHSELFLGPK DLAGCFLEEL HPKPSARDAP PASSSCLCQD GEDAGSLEPQ
1410 1420 1430 1440 1450
LPRSPPGTAE TEPGRAASPP TLESSSLFPD LPVDRFDPPL YGSLSANRDS
1460 1470 1480 1490 1500
GLPFACADPP QKTVPSDPPY PSFLLLEEVS PMLPSHFPDL SGGKVLSKTC
1510 1520 1530 1540 1550
PPERTVVPGA APSLPGKGSG CSVALMSHLS EDELEIQKLV TELESQLQRS
1560 1570 1580 1590 1600
KDTRGAPREL AEAESVGRVE LGTGTEPPSQ RRTCQATVPH EDTFSAADLT
1610 1620 1630 1640 1650
RVGESTAHRE GAESAVATVE AVQGRPGGTW PCPASFHPGH AALLPCAQED
1660 1670 1680 1690 1700
LVSGAPFSPR GANFHFQPVQ KAGASKTGLC QAEGDSRPPQ DVCLPEPSKQ
1710 1720 1730 1740 1750
PGPQLDAGSL AKCSPDQELS FPKNKEAASS QESEDSLRLL PCEQRGGFLP
1760 1770 1780 1790 1800
EPGTADQPHR GAPAPEAFGS PAVHLAPDLA FQGDGAPPLD ATWPFGASPS
1810 1820 1830 1840 1850
HAAQGHSAGR AGGHLHPTAG RPGFEGNEFA PAGASSLTAP RGREAWLVPV
1860 1870 1880 1890 1900
PSPACVSNTH PSRRSQDPAL SPPIRQLQLP GPGVAKSKDG ILGLQELTPA
1910 1920 1930 1940 1950
AQSPPRVNPS GLEGGTVEGG KVACGPAQGS PGGVQVTTLP AVAGHQLGLE
1960 1970 1980 1990 2000
ADGHWGLLGQ AEKTQGQGTA NQLQPENGVS PGGTDNHASV NASPKTALTG
2010 2020 2030 2040 2050
PTEGAVLLEK CKGSRAAMSL QEEAEPTPSP PSPNRESLAL ALTAAHSRSG
2060 2070 2080 2090 2100
SEGRTPERAS SPGLNKPLLA TGDSPAPSVG DLAACAPSPT SAAHMPCSLG
2110 2120 2130 2140 2150
PLPREDPLTS PSRAQGGLGG QLPASPSCRD PPGPQQLLAC SPAWAPLEEA
2160 2170 2180 2190 2200
DGVQATTDTG AEDSPVAPPS LTTSPCDPKE ALAGCLLQGE GSPLEDPSSW
2210 2220 2230 2240 2250
PPGSVSAVTC THSGDTPKDS TLRIPEDSRK EKLWESPGRA TSPPLAGAVS
2260 2270 2280 2290 2300
PSVAVRATGL SSTPTGDEAQ AGRGLPGPDP QSRGAPPHTN PDRMPRGHSS
2310 2320 2330 2340 2350
YSPSNTARLG HREGQAVTAV PTEPPTLQGA GPDSPACLEG EMGTSSKEPE
2360 2370 2380 2390 2400
DPGTPETGRS GATKMPRVTC PSTGLGLGRT TAPSSTASDF QSDSPQSHRN
2410 2420 2430 2440 2450
ASHQTPQGDP LGPQDLKQRS RGYKKKPAST ENGQWKGQAP HGPVTCEVCA
2460 2470 2480 2490 2500
ASFRSGPGLS RHKARKHRPH PGAPAEPSPA ALPAQQPLEP LAQKCQPPRK
2510 2520 2530 2540 2550
KSHRVSGKER PNHSRGDPSH VTQPPPAQGS KEVLRAPGSP HSQQLHPPSP
2560 2570 2580 2590 2600
TEHEVDVKTP ASKPRPDQAR EDELHPKQAE KREGRRWRRE PTVDSPSHSE
2610 2620 2630 2640 2650
GKSNKKRGKL RGRRLREESI LPVSADVISD GRGSRPSPAM ASYAASPSHC
2660 2670 2680 2690 2700
LSVEGGPEAD GEQPPRLATL GPGVMEGAAE TDQEALCAGE TGAQKPPGDR
2710 2720 2730 2740 2750
MLCPGRMDGA ALGEQPTGQK GASARGFWGP RETKALGVCK ESGSEPAEDS
2760 2770 2780 2790 2800
SRAHSRSEEG VWEENTPPLG PLGFPETSSS PADSTTSSCL QGLPDNPDTQ
2810 2820 2830 2840 2850
GGVQGPEGPT PDASGSSAKD PPSLFDDEVS FSQLFPPGGR LTRKRNPHVY
2860 2870 2880 2890 2900
GKRCEKPVLP LPTQPSFEEG GDPTLGPARL PTDLSDSSSL CLCHEDPWED
2910 2920 2930 2940 2950
EDPAGLPESF LLDGFLNSRV PGIDPWAPGL SLWALEPSRE AGAEKLPSHC
2960 2970 2980 2990 3000
PEDDRPEAIP ELHMVPAAWR GLEMPAPADD SSSSLGDVSP EPPSLERERC
3010 3020 3030 3040 3050
DGGLPGNTHL LPLRATDFEV LSTKFEMQDL CFLGPFEDPV GLPGPSFLDF
3060 3070 3080 3090 3100
EGTASSQGPQ SRRTEEAAGA GRAQGRGRPA KGRRASYKCK VCFQRFRSLG
3110 3120 3130 3140 3150
ELDLHKLAHT PAPPPTCYMC VERRFGSREL LRGHLQERHA QSKAGPWACG
3160 3170 3180 3190 3200
MCLKEVADVW MYNEHLREHA VRFARRGQAR RSLGDLPGGL EGSSAVAHLL
3210 3220 3230 3240 3250
NSITEPAPKH HRGKRSAGKA AGSPGDPWGQ EGEAKKDSPG ERAKPRARST
3260 3270 3280 3290 3300
PSNPDGAATP DSASATALAD AGSPGPPRTT PSPSPDPWAG GEPLLQATPV
3310 3320 3330 3340 3350
HEACKDPSRD CHHCGKRFPK PFKLQRHLAV HSPQRVYLCP RCPRVYPEHG
3360 3370 3380 3390 3400
ELLAHLGGAH GLLERPELQH TPLYACELCA TVMRIIKKSF ACSSCNYTFA
3410 3420 3430 3440 3450
KKEQFDRHMN KHLRGGRQPF AFRGVRRPGA PGQKARALEG TLPSKRRRVA
3460 3470 3480 3490 3500
MPGSAPGPGE DRPPPRGSSP ILSEGSLPAL LHLCSEVAPS TTKGWPETLE
3510 3520 3530 3540 3550
RPVDPVTHPI RGCELPSNHQ ECPPPSLSPF PAALADGRGD CALDGALERP
3560 3570 3580 3590 3600
ENEASPGSPG PLLQQALPLG ASLPRPGARG QDAEGKRAPL VFSGKRRAPG
3610 3620 3630 3640 3650
ARGRCAPDHF QEDHLLQKEK EVSSSHMVSE GGPRGTFHKG SATKPAGCQS
3660 3670 3680 3690 3700
SSKDRSAAST PSKALKFPVH PRKAVGSLAP GELARGTENG MKPATPKAKP
3710 3720 3730 3740 3750
GPSSQGSGSP RPGTKTGGGS QPQPASGQLQ SETATTPAKP SFPSRSPAPE
3760 3770 3780 3790 3800
RLPARAQAKS CTKGPREAGE QGPHGSLGPK EKGESSTKRK KGQVPGPARS
3810 3820 3830 3840 3850
ESVGSFGRAP SAPDKPPRTP RKQATPSRVL PTKPKPNSQN KPRPPPSEQR
3860 3870 3880 3890 3900
KAEPGHTQRK DRLGKAFPQG RPLLRPPKRG TAVHGAEPAE PHTHRTAEAQ
3910 3920
SDLLSQLFGQ RLTGFKIPLK KDASE
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 3310-3340, 3386-3421.
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.
InParanoidi Q96JG9.
PhylomeDBi Q96JG9.

Miscellaneous databases

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

Gene expression databases

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: October 29, 2014
This is version 104 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