Utrophin

Utrophin
PDB rendering based on 1bhd.
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 1BHD, 1QAG
Identifiers
Symbols	UTRN ; DMDL; DRP; DRP1
External IDs	OMIM: 128240 MGI: 104631 HomoloGene: 21398 GeneCards: UTRN Gene
Gene ontology Molecular function • actin binding • integrin binding • protein binding • zinc ion binding • vinculin binding • protein kinase binding Cellular component • nucleoplasm • cytoplasm • cytoskeleton • plasma membrane • dystrophin-associated glycoprotein complex • membrane • cell junction • filopodium • filopodium membrane • neuromuscular junction • sarcolemma • protein complex • postsynaptic membrane • extracellular exosome • contractile ring Biological process • positive regulation of cell-matrix adhesion • muscle contraction • muscle organ development • regulation of sodium ion transmembrane transporter activity Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	7402	22288
Ensembl	ENSG00000152818	ENSMUSG00000019820
UniProt	P46939	E9Q6R7
RefSeq (mRNA)	NM_007124	NM_011682
RefSeq (protein)	NP_009055	NP_035812
Location (UCSC)	Chr 6: 144.29 – 144.85 Mb	Chr 10: 12.38 – 12.86 Mb
PubMed search	[1]	[2]

Utrophin is a protein that in humans is encoded by the UTRN gene.

The protein encoded by this gene is a component of the cytoskeleton. Utrophin was found during research into Duchenne's muscular dystrophy. The name is a contraction for ubiquitous dystrophin. The 900 kb gene for utrophin is found on the long arm of human chromosome 6. Utrophin was discovered due to its homology with dystrophin. It was found by screening a peptide containing the C-terminal domain of dystrophin against cDNA libraries. The homology varies over its full length from less than 30% in regions of the central rod structural domain, to 85% (identity 73%) for the actin binding domain.

The tertiary structure of utrophin contains a C-terminus that consists of protein–protein interaction motifs that interact with dystroglycan, a central rod region consisting of a triple coiled-coil repeat, and an actin-binding N-terminus.

In normal muscle cells, utrophin is located at the neuromuscular synapse and myotendinous junctions. It is necessary for normal membrane maintenance, and for the clustering of the acetylcholine receptor. In adult humans, utrophin RNA is found ubiquitously, as the name implies, being abundant in the brain, kidney, liver, lung, muscle, spleen and stomach. In the human fetus during muscle differentiation, utrophin is found at the sarcolemma. It disappears when the fetus begins to express dystrophin.

Utrophin expression is dramatically increased in patients with Duchenne's muscular dystrophy (and female carriers), both in those muscle fibers lacking dystrophin and in rare, revertant fibers that express dystrophin.

No reports have yet associated mutation in the utrophin gene with disease, but it does not seem to play a critical role in development, since mice without utrophin develop normally.

See also

• dystrophin

External links

• Utrophin at the US National Library of Medicine Medical Subject Headings (MeSH)