ETM1

essential tremor 1
essential tremor 1
Identifiers
Symbol	ETM1
HGNC	3486
OMIM	190300
Other data
Locus	Chr. 3 q13

DRD3
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	3PBL
Identifiers
Aliases	DRD3, D3DR, ETM1, FET1, dopamine receptor D3
External IDs	OMIM: 126451 MGI: 94925 HomoloGene: 623 GeneCards: DRD3
Gene location (Human)
Chr.	Chromosome 3 (human)
End	114,199,407 bp
Gene location (Mouse)
Chr.	Chromosome 16 (mouse)
End	43,643,295 bp
RNA expression pattern
	Top expressed in
	nucleus accumbens; ; putamen; ; caudate nucleus; ; prefrontal cortex; ; lymph node; ; hypothalamus; ; Brodmann area 9; ; cingulate gyrus; ; mesencephalon; ; substantia nigra;
	Top expressed in
	morula; ; superior frontal gyrus; ; right ventricle; ; meninges; ; germ layer; ; ectoderm; ; stomach; ; hypothalamus; ; thoracic diaphragm; ; cerebellum;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	protein binding; signal transducer activity; G protein-coupled receptor activity; dopamine neurotransmitter receptor activity; dopamine neurotransmitter receptor activity, coupled via Gi/Go; dopamine binding; protein domain specific binding; D1 dopamine receptor binding; adrenergic receptor activity;
Cellular component	endocytic vesicle; apical part of cell; cell projection; integral component of membrane; membrane; plasma membrane; integral component of plasma membrane; dopaminergic synapse; glutamatergic synapse; GABA-ergic synapse; integral component of postsynaptic density membrane;
Biological process	negative regulation of sodium:proton antiporter activity; dopamine receptor signaling pathway; dopamine metabolic process; regulation of circadian sleep/wake cycle, sleep; negative regulation of dopamine receptor signaling pathway; positive regulation of cell population proliferation; regulation of dopamine uptake involved in synaptic transmission; response to histamine; response to ethanol; prepulse inhibition; social behavior; learning; positive regulation of renal sodium excretion; arachidonic acid secretion; negative regulation of protein secretion; negative regulation of transcription by RNA polymerase II; gastric emptying; regulation of blood volume by renin-angiotensin; regulation of locomotion involved in locomotory behavior; cellular calcium ion homeostasis; regulation of locomotion; learning or memory; response to amphetamine; positive regulation of transcription by RNA polymerase II; positive regulation of cytokinesis; signal transduction; regulation of lipid metabolic process; regulation of multicellular organism growth; visual learning; G protein-coupled receptor internalization; regulation of dopamine secretion; negative regulation of protein kinase B signaling; adenylate cyclase-activating dopamine receptor signaling pathway; locomotory behavior; behavioral response to cocaine; negative regulation of blood pressure; acid secretion; musculoskeletal movement, spinal reflex action; positive regulation of dopamine receptor signaling pathway; circadian regulation of gene expression; response to morphine; negative regulation of oligodendrocyte differentiation; adenylate cyclase-inhibiting dopamine receptor signaling pathway; positive regulation of mitotic nuclear division; response to cocaine; synaptic transmission, dopaminergic; G protein-coupled receptor signaling pathway; autophagy; negative regulation of apoptotic process; regulation of neurotransmitter uptake; regulation of postsynaptic neurotransmitter receptor internalization; adenylate cyclase-modulating G protein-coupled receptor signaling pathway; adenylate cyclase-activating adrenergic receptor signaling pathway;
	Sources:Amigo / QuickGO
Orthologs
	1814
	13490
	ENSG00000151577
	ENSMUSG00000022705
	P35462
	P30728
NM_000796; NM_001282563; NM_001290809; NM_033658; NM_033659;
	NM_033660; NM_033663
	NM_007877
	NP_000787; NP_001269492; NP_001277738; NP_387512
	NP_031903
	Wikidata
View/Edit Human	View/Edit Mouse

ETM1 is a gene associated with essential tremor.^[5]

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000151577 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000022705 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ Gulcher JR, Jónsson P, Kong A, et al. (1997). "Mapping of a familial essential tremor gene, FET1, to chromosome 3q13". Nat. Genet. 17 (1): 84–7. doi:10.1038/ng0997-84. PMID 9288103. S2CID 1506516.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000151577 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000022705 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[5] Gulcher JR, Jónsson P, Kong A, et al. (1997). "Mapping of a familial essential tremor gene, FET1, to chromosome 3q13". Nat. Genet. 17 (1): 84–7. doi:10.1038/ng0997-84. PMID 9288103. S2CID 1506516.

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