HuLPr49092

Uniprot ID

ZN469_HUMAN

Uniprot Acc

Q96JG9;

Protein name

Zinc finger protein 469

Comment

FUNCTION:May be involved in transcriptional regulation.||SUBCELLULAR LOCATION:Nucleus (Potential).||TISSUE SPECIFICITY:Detected in cornea, sclera, skin fibroblasts and striated muscle.||DISEASE:Defects in ZNF469 are the cause of brittle cornea syndrome (BCRS) [MIM:229200]. It is a disorder characterized by blue sclerae, corneal rupture after minor trauma, 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).||SIMILARITY:Belongs to the krueppel C2H2-type zinc-finger protein family.||SIMILARITY:Contains 5 C2H2-type zinc fingers.

Subcellular localization

Nucleus(Potential).

Gene name

zinc finger protein 469

Protein sequence

MPGERPRGAPPPTMTGDLQPRQVASSPGHPSQPPLEDNTP ATRTTKGAREAGGQAQAMELPEAQPRQARDGELKPPSLR GQAPSSTPGKRGSPQTPPGRSPLQAPSRLAGRAEGSPPQ RYILGIASSRTKPTLDETPENPQLEAAQLPEVDTPQGPG TGAPLRPGLPRTEAQPAAEELGFHRCFQEPPSSFTSTNY TSPSATPRPPAPGPPQSRGTSPLQPGSYPEYQASGADSW PPAAENSFPGANFGVPPAEPEPIPKGSRPGGSPRGVSFQ FPFPALHGASTKPFPADVAGHAFTNGPLVFAFHQPQGAW PEEAVGTGPAYPLPTQPAPSPLPCYQGQPGGLNRHSDLS GALSSPGAAHSAPRPFSDSLHKSLTKILPERPPSAQDGL GSTRGPPSSLPQRHFPGQAYRASGVDTSPGPPDTELAAP GPPPARLPQLWDPTAAPYPTPPGGPLAATRSMFFNGQPS PGQRLCLPQSAPLPWPQVLPTARPSPHGMEMLSRLPFPA GGPEWQGGSQGALGTAGKTPGPREKLPAVRSSQGGSPAL FTYNGMTDPGAQPLFFGVAQPQVSPHGTPSLPPPRVVGA SPSESPLPSPATNTAGSTCSSLSPMSSSPANPSSEESQL PGPLGPSAFFHPPTHPQETGSPFPSPEPPHSLPTHYQPE PAKAFPFPADGLGAEGAFQCLEETPFPHEGPEVGRGGLQ GFPRAPPPYPTHHFSLSSASLDQLDVLLTCRQCDRNYSS LAAFLAHRQFCGLLLARAKDGHQRSPGPPGLPSPPAAPR VPADAHAGLLSHAKTFLLAGDAQAEGKDDPLRTGFLPSL AATPFPLPASDLDMEDDAKLDSLITEALNGMEYQSDNPE IDSSFIDVFADEEPSGPRGPSSGHPLKSKAGVTPESKAP PPLPAATPDPQTPRPGDRGCPARGRPKTRSLGLAPTEAD APSQGRQQRRGKQLKLFRKDLDSGGAAEGSGSGGGGRAS GLRPRRNDGLGERPPPRPRRPRTQ

Database cross reference

RefSeq Protein accession:NP_001120936
RefSeq Protein gi:188536004

HLPP validation

Yes/No

Yes

Project name

French Liver;Human Liver Organelles;

GO:0005634;C:nucleus;IEA:UniProtKB-SubCell.

GO-F

GO:0003677;F:DNA binding;IEA:UniProtKB-KW. GO:0008270;F:zinc ion binding;IEA:InterPro.

GO-P

GO:0006355;P:regulation of transcription, DNA-dependent;IEA:UniProtKB-KW. GO:0006351;P:transcription, DNA-dependent;IEA:UniProtKB-KW.

MOD type1

Position1

Residue1

Source name1

source ID1

Source method

HLPP validation1 (Yes/no)

Quality score

HuLPr49092

PHOSPHORYLATION

1553

T

PhosphoSitePlus

471215

LTP

N