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P11473 of Proteins NR C4-type domain repeats

Uniprot ID:P11473	Protein name: Vitamin D3 receptor	Gene : VDR NR1I1
Protein Family:"Nuclear hormone receptor family, NR1 subfamily"	Squence Length : 427

Sequnce	>P11473 428 MEAMAASTSLPDPGDFDRNVPRICGVCGDRATGFHFNAMTCEGCKGFFRRSMKRKALFTCPFNGDCRITKDNRRHCQACRLKRCVDIGMMKEFILTDEEVQRKREMILKRKEEEALKDSLRPKLSEEQQRIIAILLDAHHKTYDPTYSDFCQFRPPVRVNDGGGSHPSRPNSRHTPSFSGDSSSSCSDHCITSSDMMDSSSFSNLDLSEEDSDDPSVTLELSQLSMLPHLADLVSYSIQKVIGFAKMIPGFRDLTSEDQIVLLKSSAIEVIMLRSNESFTMDDMSWTCGNQDYKYRVSDVTKAGHSLELIEPLIKFQVGLKKLNLHEEEHVLLMAICIVSPDRPGVQDAALIEAIQDRLSNTLQTYIRCRHPPPGSHLLYAKMIQKLADLRSLNEEHSKQYRCLSFQPECSMKLTPLVLEVFGNEIS
NR C4-type domains repeats	ZN_FING 24 44 NR C4-type ZN_FING 60 84 NR C4-type
Domin repeated regions	24 - 44 CGVCGDRATGFHFNAMTCEGC 60 - 84 CPFNGDCRITKDNRRHCQACRLKRC
Function	"Nuclear receptor for calcitriol, the active form of vitamin D3 which mediates the action of this vitamin on cells. Enters the nucleus upon vitamin D3 binding where it forms heterodimers with the retinoid X receptor/RXR. The VDR-RXR heterodimers bind to specific response elements on DNA and activate the transcription of vitamin D3-responsive target genes. Recruited to promoters via its interaction with BAZ1B/WSTF which mediates the interaction with acetylated histones, an essential step for VDR-promoter association. Plays a central role in calcium homeostasis"
Binding Site	BINDING 143 143 Vitamin D3. BINDING 305 305 Vitamin D3. BINDING 397 397 Vitamin D3
Mutation	61 62 PF->AA: Promotes heterodimerization with RXRA when associated with A-75 75 75 H->A: Promotes heterodimerization with RXRA when associated with A-61 and A-62
Disease	"DISEASE: Rickets vitamin D-dependent 2A (VDDR2A) [MIM:277440]: A disorder of vitamin D metabolism resulting in severe rickets, hypocalcemia and secondary hyperparathyroidism Most patients have total alopecia in addition to rickets Note=The disease is caused by mutations affecting the gene represented in this entry"