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Utrophin

From Wikipedia, the free encyclopedia
Mammalian protein found in Homo sapiens

UTRN
Identifiers
Aliases UTRN , DMDL, DRP, DRP1, utrophin
External IDsOMIM: 128240; MGI: 104631; HomoloGene: 21398; GeneCards: UTRN; OMA:UTRN - orthologs
Available structures
PDB Human UniProt search: PDBe RCSB
List of PDB id codes

1BHD, 1QAG,%%s1BHD, 1QAG

Gene location (Human)
Chromosome 6 (human)
Chr. Chromosome 6 (human) [1]
Band 6q24.2Start144,285,335 bp [1]
End144,853,034 bp [1]
Gene location (Mouse)
Chromosome 10 (mouse)
Chr. Chromosome 10 (mouse)[2]
Band 10 A1|10 3.77 cMStart12,257,932 bp [2]
End12,745,109 bp [2]
RNA expression pattern
Bgee
Human Mouse (ortholog)
Top expressed in
  • Achilles tendon

  • sural nerve

  • tendon of biceps brachii

  • trigeminal ganglion

  • epithelium of colon

  • monocyte

  • visceral pleura

  • pericardium

  • parietal pleura

  • epithelium of nasopharynx
Top expressed in
  • iris

  • ciliary body

  • Paneth cell

  • ascending aorta

  • aortic valve

  • vestibular membrane of cochlear duct

  • retinal pigment epithelium

  • fossa

  • right lung

  • right lung lobe
More reference expression data
BioGPS


More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

7402

22288

Ensembl

ENSG00000152818

ENSMUSG00000019820

UniProt

P46939
Q5T097

n/a

RefSeq (mRNA)

NM_007124
NM_001375323

NM_011682

RefSeq (protein)

NP_009055
NP_001362252

n/a

Location (UCSC)Chr 6: 144.29 – 144.85 Mb Chr 10: 12.26 – 12.75 Mb
PubMed search[3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Utrophin is a protein that in humans is encoded by the UTRN gene.[5] [6] The name is a short form for ubiquitous dystrophin . The 900 kb gene for utrophin is found on the long arm of human chromosome 6.

Discovery

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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 of utrophin to dystrophin 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.

Tissue distribution

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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.

Structure

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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.

Function

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The protein encoded by this gene is a component of the cytoskeleton. Utrophin was found during research into Duchenne's muscular dystrophy, where boosting its production was found to prevent cellular damage from occurring.[7]

Clinical significance

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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

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References

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  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000152818 – Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000019820 – 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. ↑ 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 Letters. 313 (1): 19–22. Bibcode:1992FEBSL.313...19T. doi:10.1016/0014-5793(92)81174-K . PMID 1426262. S2CID 22121696.
  6. ↑ "Entrez Gene: UTRN utrophin".
  7. ↑ This article incorporates text available under the CC BY 4.0 license. Betts JG, Desaix P, Johnson E, Johnson JE, Korol O, Kruse D, et al. (May 14, 2023). Anatomy & Physiology. Houston: OpenStax CNX. 10.3 Muscle Fiber Contraction and Relaxation. ISBN 978-1-947172-04-3.

Further reading

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