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Gene Gene information from NCBI Gene database.
Entrez ID 9572
Gene name Nuclear receptor subfamily 1 group D member 1
Gene symbol NR1D1
Synonyms (NCBI Gene)
EAR1REVERBAREVERBalphaTHRA1THRALear-1hRev
Chromosome 17
Chromosome location 17q21.1
Summary This gene encodes a transcription factor that is a member of the nuclear receptor subfamily 1. The encoded protein is a ligand-sensitive transcription factor that negatively regulates the expression of core clock proteins. In particular this protein repre
miRNA miRNA information provided by mirtarbase database.
53 Show/Hide all (53)
miRTarBase ID miRNA Experiments Reference
MIRT017335 hsa-miR-335-5p Microarray 18185580
MIRT1191990 hsa-miR-1266 CLIP-seq
MIRT1191991 hsa-miR-24 CLIP-seq
MIRT1191992 hsa-miR-4518 CLIP-seq
MIRT1191993 hsa-miR-4678 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
RORA Activation 22024429
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
106 Show/Hide all (106)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IBA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 19955433
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 8622974
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IMP 18511497
GO:0000785 Component Chromatin IDA 18511497
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602408 7962 ENSG00000126368
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P20393
Protein name Nuclear receptor subfamily 1 group D member 1 (Rev-erbA-alpha) (V-erbA-related protein 1) (EAR-1)
Protein function Transcriptional repressor which coordinates circadian rhythm and metabolic pathways in a heme-dependent manner. Integral component of the complex transcription machinery that governs circadian rhythmicity and forms a critical negative limb of th
PDB 1A6Y , 1GA5 , 1HLZ , 3N00 , 8D8I
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00104 Hormone_recep 434 → 611 Ligand-binding domain of nuclear hormone receptor Domain
PF00105 zf-C4 130 → 200 Zinc finger, C4 type (two domains) Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Expressed at high levels in the liver, adipose tissue, skeletal muscle and brain. Also expressed in endothelial cells (ECs), vascular smooth muscle cells (VSMCs) and macrophages. Expression oscillates diurnally in the
Sequence
MTTLDSNNNTGGVITYIGSSGSSPSRTSPESLYSDNSNGSFQSLTQGCPTYFPPSPTGSL
TQDPARSFGSIPPSLSDDGSPSSSSSSSSSSSSFYNGSPPGSLQVAMEDSSRVSPSKSTS
NITKLNGMVLLCKVCGDVASGFHYGVHACEGCKGFFRRSIQQNIQYKRCLKNENCSIVRI
NRNRCQQCRFKKCLSVGMSR
DAVRFGRIPKREKQRMLAEMQSAMNLANNQLSSQCPLETS
PTQHPTPGPMGPSPPPAPVPSPLVGFSQFPQQLTPPRSPSPEPTVEDVISQVARAHREIF
TYAHDKLGSSPGNFNANHASGSPPATTPHRWENQGCPPAPNDNNTLAAQRHNEALNGLRQ
APSSYPPTWPPGPAHHSCHQSNSNGHRLCPTHVYAAPEGKAPANSPRQGNSKNVLLACPM
NMYPHGRSGRTVQEIWEDFSMSFTPAVREVVEFAKHIPGFRDLSQHDQVTLLKAGTFEVL
MVRFASLFNVKDQTVMFLSRTTYSLQELGAMGMGDLLSAMFDFSEKLNSLALTEEELGLF
TAVVLVSADRSGMENSASVEQLQETLLRALRALVLKNRPLETSRFTKLLLKLPDLRTLNN
MHSEKLLSFRV
DAQ
Sequence length 614
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
Circadian rhythm PPARA activates gene expression
  Transcriptional activation of mitochondrial biogenesis
  Nuclear Receptor transcription pathway
  Circadian Clock
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
12
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (12)
Phenotype Name Clinical Significance Source Reference Evidence Score
ASTHMA — GWAS catalog 31669095, 40155373
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER — GWAS catalog 36810956
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA — GWAS catalog 31669095
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (76)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 2278973
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder BEFREE 30028550, 30326159
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder BEFREE 30028550, 30326159
★★★★★
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis LHGDN 12021280
★★★★★
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 25957987, 28262759
★★★★★
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar Disorder BEFREE 19267705, 22538398, 25789810
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bipolar Disorder Bipolar Disorder PSYGENET_DG 20072116, 21781277, 21835597, 22538398, 24389266
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bipolar Disorder Bipolar disorder Pubtator 21781277, 25789810 Associate
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Brain Injuries Brain injuries Pubtator 37055510 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 12727839, 20160030, 28249904, 28599788, 29455641, 31779659, 7511052, 9695977
★★★★★
★☆☆☆☆
Found in Text Mining only