Protein: P11473 | MoonDB v2.0

UniprotKB AC	UniprotKB ID	Gene name	Full name	Species	Curated set
P11473 (Uniprot)	VDR_HUMAN	VDR	Vitamin D3 receptor	human	No

Protein Function

Uniprot: 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 transcript more..

MoonDB Dissimilar Functions

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GO ID 1	Function 1	Module ID 1	GO ID 2	Function 2	Module ID 2	Association Probability (PrOnto)	Interaction Probability (PrOnto)
GO:0007165	signal transduction	169	GO:0034641	cellular nitrogen compound metabolic process	35	4.22e-144	6.90e-18

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MoonDB Network Modules

Biological Processes

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Module ID (MoonGO)	GO ID (BP)	GO Name
35	GO:0044271	cellular nitrogen compound biosynthetic process
35	GO:0044267	cellular protein metabolic process
35	GO:0090304	nucleic acid metabolic process
35	GO:0010468	regulation of gene expression
35	GO:0009966	regulation of signal transduction
102	GO:0044267	cellular protein metabolic process
102	GO:0031325	positive regulation of cellular metabolic process
102	GO:0010604	positive regulation of macromolecule metabolic process
102	GO:0051173	positive regulation of nitrogen compound metabolic process
102	GO:0006355	regulation of transcription, DNA-templated

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Cellular Components

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Module ID (MoonGO)	GO ID (CC)	GO Name
35	GO:0005829	cytosol
35	GO:0005634	nucleus
35	GO:0005886	plasma membrane
102	GO:0005634	nucleus
169	GO:0005654	nucleoplasm
220	GO:0005634	nucleus
357	GO:0005654	nucleoplasm
535	GO:0005829	cytosol
535	GO:0043232	intracellular non-membrane-bounded organelle
535	GO:0005654	nucleoplasm

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Protein GO Annotations

Biological Processes

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GO ID (BP)	GO Name	Evidence Code (GO EC)
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IDA
GO:0000902	cell morphogenesis	IMP
GO:0001501	skeletal system development	IEA
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS
GO:0006816	calcium ion transport	IEA
GO:0006874	cellular calcium ion homeostasis	IEA
GO:0007165	signal transduction	TAS
GO:0007595	lactation	IEA
GO:0008285	negative regulation of cell proliferation	IDA
GO:0010628	positive regulation of gene expression	IMP

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Cellular Components

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GO ID (CC)	GO Name	Evidence Code (GO EC)
GO:0005634	nucleus	IDA
GO:0005654	nucleoplasm	TAS
GO:0043235	receptor complex	IDA
GO:0090575	RNA polymerase II transcription factor complex	IDA

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Dissimilar Cellular Components (PrOnto)

No pairs of PrOnto dissimilar CC GO terms found.

All Protein Interactions

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Interactor	Also a MoonDB EMF protein
CASC4_HUMAN	No
CCND3_HUMAN	No
CDA7L_HUMAN	No
CFAH_HUMAN	No
CLASR_HUMAN	No
CSN2_HUMAN	No
CXXC5_HUMAN	No
EP300_HUMAN	Yes: Q09472 (MoonDB)
GBRL1_HUMAN	No
GBRL2_HUMAN	Yes: P60520 (MoonDB)

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Publications Associated

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PMID	Article Title
1324736	A single receptor identical with that from intestine/T47D cells mediates the action of 1,25-dihydroxyvitamin D-3 in HL-60 cells.
1652893	A unique mutation in the vitamin D receptor gene in three Japanese patients with vitamin D-dependent rickets type II: utility of single-strand conformation polymorphism analysis for heterozygous carrier detection.
1850412	Vitamin D receptor expression in human lymphocytes. Signal requirements and characterization by western blots and DNA sequencing.
2177843	A unique point mutation in the human vitamin D receptor chromosomal gene confers hereditary resistance to 1,25-dihydroxyvitamin D3.
2835767	Cloning and expression of full-length cDNA encoding human vitamin D receptor.
2849209	Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets.
7828346	Two mutations causing vitamin D resistant rickets: modelling on the basis of steroid hormone receptor DNA-binding domain crystal structures.
8106618	Hereditary 1 alpha,25-dihydroxyvitamin D-resistant rickets resulting from a mutation in the vitamin D receptor deoxyribonucleic acid-binding domain.
8381803	A new point mutation in the deoxyribonucleic acid-binding domain of the vitamin D receptor in a kindred with hereditary 1,25-dihydroxyvitamin D-resistant rickets.
8392085	Two mutations in the hormone binding domain of the vitamin D receptor cause tissue resistance to 1,25 dihydroxyvitamin D3.

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OMIM Diseases Associated

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OMIM ID	Disease Name
277440	Rickets vitamin D-dependent 2A

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Protein Domains Associated

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Domain Name	Domain ID	Source
A28200	A28200	PIR
HOLI	SM00430	SMART
Hormone_recep	PF00104	Pfam
NHR_like_dom_sf	IPR035500	InterPro
NR_LBD	PS51843	PROSITE
Nucl_hrmn_rcpt_lig-bd	IPR000536	InterPro
Nuclear_hrmn_rcpt	IPR001723	InterPro
NUCLEAR_REC_DBD_1	PS00031	PROSITE
NUCLEAR_REC_DBD_2	PS51030	PROSITE
SSF48508	SSF48508	SUPFAM

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