Utrophin

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UTRN
Protein UTRN PDB 1bhd.png
Available structures
PDBHuman UniProt search: PDBe RCSB
Identifiers
AliasesUTRN, DMDL, DRP, DRP1, utrophin
External IDsMGI: 104631 HomoloGene: 21398 GeneCards: UTRN
Gene location (Human)
Chromosome 6 (human)
Chr.Chromosome 6 (human)[1]
Chromosome 6 (human)
Genomic location for UTRN
Genomic location for UTRN
Band6q24.2Start144,285,701 bp[1]
End144,853,034 bp[1]
RNA expression pattern
PBB GE UTRN 213023 at fs.png

PBB GE UTRN 213022 s at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_007124

NM_011682

RefSeq (protein)

NP_009055

n/a

Location (UCSC)Chr 6: 144.29 – 144.85 MbChr 10: 12.38 – 12.87 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Utrophin is a protein that in humans is encoded by the UTRN gene.[5][6]

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[edit]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000152818 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000019820 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ Nguyen TM, Le TT, Blake DJ, Davies KE, Morris GE (Dec 1992). "Utrophin, the autosomal homologue of dystrophin, is widely-expressed and membrane-associated in cultured cell lines". FEBS Lett. 313 (1): 19–22. doi:10.1016/0014-5793(92)81174-K. PMID 1426262.
  6. ^ "Entrez Gene: UTRN utrophin".

Further reading[edit]

External links[edit]