LMPD Database

LMP001123

Record overview

LMPD ID	LMP001123
Gene ID	7421
Species	Homo sapiens (Human)
Gene Name	vitamin D (1,25- dihydroxyvitamin D3) receptor
Gene Symbol	VDR
Synonyms	NR1I1; PPP1R163
Chromosome	12
Map Location	12q13.11
Summary	This gene encodes the nuclear hormone receptor for vitamin D3. This receptor also functions as a receptor for the secondary bile acid lithocholic acid. The receptor belongs to the family of trans-acting transcriptional regulatory factors and shows sequence similarity to the steroid and thyroid hormone receptors. Downstream targets of this nuclear hormone receptor are principally involved in mineral metabolism though the receptor regulates a variety of other metabolic pathways, such as those involved in the immune response and cancer. Mutations in this gene are associated with type II vitamin D-resistant rickets. A single nucleotide polymorphism in the initiation codon results in an alternate translation start site three codons downstream. Alternative splicing results in multiple transcript variants encoding different proteins. [provided by RefSeq, Feb 2011]
Orthologs	View orthologs and multiple alignments for VDR

Proteins

vitamin D3 receptor isoform VDRA

Refseq ID:	NP_000367
Protein GI:	4507883
UniProt ID:	P11473
mRNA ID:	NM_000376
Length:	427
RefSeq Status:	REVIEWED

MEAMAASTSLPDPGDFDRNVPRICGVCGDRATGFHFNAMTCEGCKGFFRRSMKRKALFTCPFNGDCRITKDNRRHCQACRLKRCVDIGMMKEFILTDEEV
QRKREMILKRKEEEALKDSLRPKLSEEQQRIIAILLDAHHKTYDPTYSDFCQFRPPVRVNDGGGSHPSRPNSRHTPSFSGDSSSSCSDHCITSSDMMDSS
SFSNLDLSEEDSDDPSVTLELSQLSMLPHLADLVSYSIQKVIGFAKMIPGFRDLTSEDQIVLLKSSAIEVIMLRSNESFTMDDMSWTCGNQDYKYRVSDV
TKAGHSLELIEPLIKFQVGLKKLNLHEEEHVLLMAICIVSPDRPGVQDAALIEAIQDRLSNTLQTYIRCRHPPPGSHLLYAKMIQKLADLRSLNEEHSKQ
YRCLSFQPECSMKLTPLVLEVFGNEIS

vitamin D3 receptor isoform VDRA

Refseq ID:	NP_001017535
Protein GI:	63054845
UniProt ID:	P11473
mRNA ID:	NM_001017535
Length:	427
RefSeq Status:	REVIEWED

vitamin D3 receptor isoform VDRB1
Protein sequence is identical to GI:4507883 (mRNA isoform)

Refseq ID:	NP_001017536
Protein GI:	323714265
UniProt ID:	P11473
mRNA ID:	NM_001017536
Length:	477
RefSeq Status:	REVIEWED

MEWRNKKRSDWLSMVLRTAGVEEAFGSEVSVRPHRRAPLGSTYLPPAPSGMEAMAASTSLPDPGDFDRNVPRICGVCGDRATGFHFNAMTCEGCKGFFRR
SMKRKALFTCPFNGDCRITKDNRRHCQACRLKRCVDIGMMKEFILTDEEVQRKREMILKRKEEEALKDSLRPKLSEEQQRIIAILLDAHHKTYDPTYSDF
CQFRPPVRVNDGGGSHPSRPNSRHTPSFSGDSSSSCSDHCITSSDMMDSSSFSNLDLSEEDSDDPSVTLELSQLSMLPHLADLVSYSIQKVIGFAKMIPG
FRDLTSEDQIVLLKSSAIEVIMLRSNESFTMDDMSWTCGNQDYKYRVSDVTKAGHSLELIEPLIKFQVGLKKLNLHEEEHVLLMAICIVSPDRPGVQDAA
LIEAIQDRLSNTLQTYIRCRHPPPGSHLLYAKMIQKLADLRSLNEEHSKQYRCLSFQPECSMKLTPLVLEVFGNEIS