Hs01418894_cn

• Gene Symbol: NR1D1
• Assay Reference Genome Location: Chr.17:40093344 on build GRCh38
• Cytoband: 17q21.1

Target Gene Details

• Entrez Gene ID: 9572
• Gene Name: nuclear receptor subfamily 1 group D member 1
• Gene Aliases: EAR1, THRA1, THRAL, ear-1, hRev
• Location: Chr.17:40092784-40100725 on Build GRCh38
• Assay Gene Location: Within Intron 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NR1D1	NM_021724.4			NP_068370.1
	AK300155.1
	AK315270.1
	BC047875.1
	BC056148.1			AAH56148.1
	BM671861.1
	HQ692861.1
	M24898.1			AAA52335.1
	M34340.1			AAA36562.2
	X72631.1			CAB53540.1

Target Gene Details

• Entrez Gene ID: 7067
• Gene Name: thyroid hormone receptor, alpha
• Gene Aliases: AR7, CHNG6, EAR7, ERB-T-1, ERBA, ERBA1, NR1A1, THRA1, THRA2, c-ERBA-1
• Location: Chr.17:40062193-40093867 on Build GRCh38
• Assay Gene Location: Within Exon 11

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
THRA	NM_001190918.1	10	1893	NP_001177847.1
	NM_001190919.1	10	1991	NP_001177848.1
	NM_003250.5	10	2010	NP_003241.2
	AK290530.1	10	1991
	BC000261.1	10	1859	AAH00261.1
	BC002728.2	10	1859	AAH02728.1
	BC035137.1	10	1902	AAH35137.1
	J03239.1	9	1492	AAA61176.1
	M24899.1	10	1846	AAA35783.1
	M24900.1	1	951	AAA52333.1
	Y00479.1	10	1768	CAA68539.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv833444	Chr.17:40086570 - 40281028 on Build GRCh38	Loss	MIR6866 MIR6867 NR1D1 RAPGEFL1 MSL1 WIPF2 CASC3 THRA

More Information

• Set Membership: Intragenic, Exonic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

C4 zinc finger nuclear receptor, DNA-binding transcription factor, zinc finger transcription factor, gene-specific transcriptional regulator

Gene Ontology Categories:

Process(es)

negative regulation of transcription from RNA polymerase II promoter
glycogen biosynthetic process
transcription initiation from RNA polymerase II promoter
circadian rhythm
proteasomal protein catabolic process
negative regulation of receptor biosynthetic process
regulation of lipid metabolic process
cell differentiation
intracellular receptor signaling pathway
circadian regulation of gene expression
negative regulation of toll-like receptor 4 signaling pathway
regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter
regulation of circadian rhythm
steroid hormone mediated signaling pathway
response to leptin
regulation of fat cell differentiation
negative regulation of transcription, DNA-templated
positive regulation of transcription, DNA-templated
circadian temperature homeostasis
regulation of insulin secretion involved in cellular response to glucose stimulus
regulation of type B pancreatic cell proliferation
positive regulation of bile acid biosynthetic process
cellular response to lipopolysaccharide
regulation of cholesterol homeostasis
positive regulation of cholesterol homeostasis
cartilage condensation
ossification
kidney development
liver development
regulation of thyroid hormone mediated signaling pathway
regulation of transcription from RNA polymerase II promoter
transcription from RNA polymerase II promoter
brain development
learning or memory
regulation of heart contraction
female courtship behavior
response to cold
hormone-mediated signaling pathway
positive regulation of myotube differentiation
negative regulation of RNA polymerase II transcriptional preinitiation complex assembly
erythrocyte differentiation
adrenal gland development
thyroid gland development
response to nutrient levels
regulation of myeloid cell apoptotic process
response to drug
cytoplasmic sequestering of transcription factor
negative regulation of sequence-specific DNA binding transcription factor activity
positive regulation of female receptivity
positive regulation of transcription from RNA polymerase II promoter
digestive tract development
embryonic organ development
regulation of lipid catabolic process
Type I pneumocyte differentiation
negative regulation of DNA-templated transcription, initiation

Function(s)

RNA polymerase II regulatory region sequence-specific DNA binding
RNA polymerase II core promoter proximal region sequence-specific DNA binding
core promoter sequence-specific DNA binding
transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding
transcription corepressor binding
steroid hormone receptor activity
transcription corepressor activity
RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding
protein binding
zinc ion binding
heme binding
transcription regulatory region DNA binding
transcription regulatory region sequence-specific DNA binding
steroid receptor RNA activator RNA binding
transcription factor activity, sequence-specific DNA binding
transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding
thyroid hormone receptor activity
transcription factor binding
TBP-class protein binding
protein domain specific binding
chromatin DNA binding
protein complex binding
protein homodimerization activity
intronic transcription regulatory region DNA binding
protein heterodimerization activity
thyroid hormone binding