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UTRN utrophin [Homo sapiens (human)]


RefSeq Accession Definition Sequence Price Select
NM_007124 Homo sapiens utrophin (UTRN), mRNA. Full Length Quote
ORF Sequence Quote


Gene Symbol UTRN
Entrez Gene ID 7402
Full Name utrophin
Synonyms DMDL, DRP, DRP1, FLJ23678
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

6

6q24

Summary This gene shares both structural and functional similarities with the dystrophin gene. It contains an actin-binding N-terminus, a triple coiled-coil repeat central region, and a C-terminus that consists of protein-protein interaction motifs which interact with dystroglycan protein components. The protein encoded by this gene is located at the neuromuscular synapse and myotendinous junctions, where it participates in post-synaptic membrane maintenance and acetylcholine receptor clustering. Mouse studies suggest that this gene may serve as a functional substitute for the dystrophin gene and therefore, may serve as a potential therapeutic alternative to muscular dystrophy which is caused by mutations in the dystrophin gene. Alternative splicing of the utrophin gene has been described; however, the full-length nature of these variants has not yet been determined. [provided by RefSeq].
Disorder

MIM: 128240

mRNA NM_007124, 110611227
Protein NP_009055, 110611228
Product utrophin
RefSeq Status REVIEWED
Homo sapiens (human)UTRNNP_009055.2
Pan troglodytes (chimpanzee)UTRNXP_001172869.1
Canis lupus familiaris (dog)UTRNNP_001012395.1
Bos taurus (cattle)UTRNXP_001788213.1
Mus musculus (house mouse)UtrnNP_035812.3
Rattus norvegicus (Norway rat)UtrnNP_037202.1
Gallus gallus (chicken)UTRNXP_419648.2
Process
IDNameEvidence
GO:0001954positive regulation of cell-matrix adhesionIMP
GO:0006936muscle contractionTAS
GO:0007517muscle organ developmentTAS
Component
IDNameEvidence
GO:0005624membrane fractionTAS
GO:0005634nucleusIDA
GO:0005730nucleolusIDA
GO:0005737cytoplasmIDA
GO:0005856cytoskeletonIEA
GO:0005886plasma membraneIDA
GO:0030054cell junctionIEA
GO:0045202synapseIEA
GO:0045211postsynaptic membraneIEA
Function
IDNameEvidence
GO:0003779actin bindingIEA
GO:0005509calcium ion bindingIEA
GO:0005515protein bindingIPI
GO:0008270zinc ion bindingIEA
GeneCards UTRN
PDB 1QAG, 1BHD
UniProt Q6LBS5, P46939
MIM 128240
Ensembl ENSG00000152818
HGNC 12635
HPRD 00547

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