Sepn1 Gene Search Result

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10 records found for search term Sepn1

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RGD ID	Symbol	Name	Description	Chr	Start	Stop	Species	Annotations	Match	Type
1304574	Selenon	selenoprotein N	ENCODES a protein that exhibits calcium ion binding (inferred); INVOLVED IN ATP metabolic process (ortholog); calcium ion homeostasis (ortholog); calcium ion import (ortholog); ASSOCIATED WITH congenital myopathy 4A (ortholog); congenital myopathy 4B (ortholog); congenital structural myopathy (ortho ... (more) log); FOUND IN endoplasmic reticulum (ortholog); endoplasmic reticulum membrane (ortholog); mitochondria-associated endoplasmic reticulum membrane contact site (ortholog); INTERACTS WITH gentamycin; paracetamol; thioacetamide	5	152032330	152046707	Rat	120	old_gene_symbol	gene, protein-coding, VALIDATED [RefSeq]
1312091	Selenon	selenoprotein N	This gene encodes a glycoprotein that is localized in the endoplasmic reticulum. It plays an important role in cell protection against oxidative stress, and in the regulation of redox-related calcium homeostasis. Mutations in the orthologous gene in human are associated with early onset muscle disor ... (more) ders, referred to as SEPN1-related myopathy. Knockout mice deleted for this gene exhibit abnormal lung development. This protein is a selenoprotein, containing the rare amino acid selenocysteine (Sec). Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. A second stop-codon redefinition element (SRE) adjacent to the UGA codon has been identified in this gene (PMID:15791204). SRE is a phylogenetically conserved stem-loop structure that stimulates readthrough at the UGA codon, and augments the Sec insertion efficiency by SECIS. [provided by RefSeq, Dec 2016]	4	134265203	134279477	Mouse	158	description , old_gene_symbol	gene, protein-coding, REVIEWED [RefSeq]
1603617	SELENON	selenoprotein N	This gene encodes a glycoprotein that is localized in the endoplasmic reticulum. It plays an important role in cell protection against oxidative stress, and in the regulation of redox-related calcium homeostasis. Mutations in this gene are associated with early onset muscle disorders, referred to as ... (more) SEPN1-related myopathy. SEPN1-related myopathy consists of 4 autosomal recessive disorders, originally thought to be separate entities: rigid spine muscular dystrophy (RSMD1), the classical form of multiminicore disease, desmin related myopathy with Mallory-body like inclusions, and congenital fiber-type disproportion (CFTD). This protein is a selenoprotein, containing the rare amino acid selenocysteine (Sec). Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. A second stop-codon redefinition element (SRE) adjacent to the UGA codon has been identified in this gene (PMID:15791204). SRE is a phylogenetically conserved stem-loop structure that stimulates readthrough at the UGA codon, and augments the Sec insertion efficiency by SECIS. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2016]	1	25800193	25818221	Human	337	description , old_gene_symbol	gene, protein-coding, REVIEWED [RefSeq]
8885495	Selenon	selenoprotein N	INVOLVED IN ATP metabolic process (ortholog); calcium ion homeostasis (ortholog); calcium ion import (ortholog); ASSOCIATED WITH congenital myopathy 4A (ortholog); congenital myopathy 4B (ortholog); congenital structural myopathy (ortholog); FOUND IN endoplasmic reticulum (ortholog); endoplasmic ret ... (more) iculum membrane (ortholog); mitochondria-associated endoplasmic reticulum membrane contact site (ortholog)	NW_004955452	5295716	5311113	Chinchilla	55	old_gene_symbol	gene, protein-coding, MODEL [RefSeq]
11836954	SELENON	selenoprotein N	ENCODES a protein that exhibits calcium ion binding (inferred); INVOLVED IN ATP metabolic process (ortholog); calcium ion import (ortholog); calcium ion transport (ortholog); ASSOCIATED WITH congenital myopathy 4A (ortholog); congenital myopathy 4B (ortholog); congenital structural myopathy (ortholo ... (more) g); FOUND IN endoplasmic reticulum (inferred); endoplasmic reticulum membrane (inferred); mitochondria-associated endoplasmic reticulum membrane contact site (inferred)	1	25058907	25076817	Bonobo	59	old_gene_symbol	gene, protein-coding, MODEL [RefSeq]
12301123	SELENON	selenoprotein N	ENCODES a protein that exhibits calcium ion binding (inferred); INVOLVED IN ATP metabolic process (ortholog); calcium ion import (ortholog); calcium ion transport (ortholog); ASSOCIATED WITH congenital myopathy 4A (ortholog); congenital myopathy 4B (ortholog); congenital structural myopathy (ortholo ... (more) g); FOUND IN endoplasmic reticulum (inferred); endoplasmic reticulum membrane (inferred); mitochondria-associated endoplasmic reticulum membrane contact site (inferred)	2	74134448	74149585	Dog	59	old_gene_symbol	gene, protein-coding, MODEL [RefSeq]
12628609	Selenon	selenoprotein N	ENCODES a protein that exhibits calcium ion binding (inferred); INVOLVED IN ATP metabolic process (ortholog); calcium ion import (ortholog); calcium ion transport (ortholog); ASSOCIATED WITH congenital myopathy 4A (ortholog); congenital myopathy 4B (ortholog); congenital structural myopathy (ortholo ... (more) g); FOUND IN endoplasmic reticulum (inferred); endoplasmic reticulum membrane (inferred); mitochondria-associated endoplasmic reticulum membrane contact site (inferred)	NW_004936474	10381646	10396638	Squirrel	59	old_gene_symbol	gene, protein-coding, MODEL [RefSeq]
13983883	SELENON	selenoprotein N	ENCODES a protein that exhibits calcium ion binding (inferred); INVOLVED IN ATP metabolic process (ortholog); calcium ion import (ortholog); calcium ion transport (ortholog); ASSOCIATED WITH congenital myopathy 4A (ortholog); congenital myopathy 4B (ortholog); congenital structural myopathy (ortholo ... (more) g); FOUND IN endoplasmic reticulum (inferred); endoplasmic reticulum membrane (inferred); mitochondria-associated endoplasmic reticulum membrane contact site (inferred)				Pig	59	old_gene_symbol	gene, protein-coding, MODEL [RefSeq]
18900590	Selenon	selenoprotein N	ENCODES a protein that exhibits calcium ion binding (inferred); INVOLVED IN ATP metabolic process (ortholog); calcium ion import (ortholog); calcium ion transport (ortholog); ASSOCIATED WITH congenital myopathy 4A (ortholog); congenital myopathy 4B (ortholog); congenital structural myopathy (ortholo ... (more) g); FOUND IN endoplasmic reticulum (ortholog); mitochondria-associated endoplasmic reticulum membrane contact site (ortholog); mitochondrial membrane (ortholog)				Naked Mole-Rat	57	old_gene_symbol	gene, protein-coding, MODEL [RefSeq]
18662811	SELENON	selenoprotein N	INVOLVED IN ATP metabolic process (ortholog); calcium ion homeostasis (ortholog); calcium ion import (ortholog); ASSOCIATED WITH congenital myopathy 4A (ortholog); congenital myopathy 4B (ortholog); congenital structural myopathy (ortholog); FOUND IN endoplasmic reticulum (ortholog); endoplasmic ret ... (more) iculum membrane (ortholog); mitochondria-associated endoplasmic reticulum membrane contact site (ortholog)				Green Monkey	55	old_gene_symbol	gene, protein-coding, MODEL [RefSeq]