Utrophin

Information about Utrophin

utrophin (homologous to dystrophin)
Identifiers
Symbol	UTRN
Alt. Symbols	DMDL
Entrez	7402
HUGO	12635
OMIM	128240
RefSeq	NM_007124
UniProt	P46939
Other data
Locus	Chr. 6 q24

Utrophin is a protein 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.

External links

MeSH Utrophin

• • [ e]

Protein: membrane proteins

Ankyrin - Arrestin - Calnexin - Connexin - Dystrophin - Ephrin - Heterotrimeric GTP-binding proteins - LDL-receptor-related protein associated protein - Membrane fusion protein (VAMP) - Membrane glycoproteins - Membrane transport proteins - Myelin basic protein - Neurofibromin 2 - Phospholipid transfer proteins - Pore forming toxins - Presenilin - Protoporphyrinogen oxidase - Pulmonary surfactant-associated protein B - Pulmonary surfactant-associated protein C - Spectrin - Tetraspanin - Transmembrane receptors - Utrophin - Vesicular transport proteins

• • [ e] Proteins of the cytoskeleton
Microfilaments	Actins - Actin-binding proteins - Actinin - Arp2/3 complex - Cofilin - Destrin - Gelsolin - Myosins - Profilin - Tropomodulin - Troponin (T, C, I) - Tropomyosin - Wiskott-Aldrich syndrome protein
Intermediate filaments	type 1 and 2 (Cytokeratin, type I, type II) - type 3 (Desmin, GFAP, Peripherin, Vimentin) - type 4 (Internexin, Nestin, Neurofilament, Synemin, Syncoilin) - type 5 (Lamin A, B)
Microtubules	Dyneins - Kinesins - MAPs (Tau protein, Dynamin) - Tubulins - Stathmin
Catenins	Alpha catenin - Beta catenin - Plakoglobin (gamma catenin) - Delta catenin
Nonhuman	Major sperm proteins - Prokaryotic cytoskeleton (Crescentin, FtsZ, MreB)
Other	APC - Dystrophin (Dystroglycan) - plakin (Desmoplakin, Plectin) - Spectrin - Talin - Utrophin - Vinculin

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MeSH D020388 Duchenne muscular dystrophy (DMD) (also known as muscular dystrophy - Duchenne type) is an eventually fatal disorder that is characterized by rapidly progressive muscle weakness and atrophy of muscle tissue.
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Dystrophin is a rod-shaped cytoplasmic protein, and a vital part of a protein complex that connects the cytoskeleton of a muscle fiber to the surrounding extracellular matrix through the cell membrane.
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Actin is a globular structural, 42-47 kDa protein found in many eukaryotic cells, with concentrations of over 100 μM. It is also one of the most highly conserved proteins, differing by no more than 5% in species as diverse as algae and humans.
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Relationship to primary sequence

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Dystroglycan is one of the dystrophin-associated glycoproteins, which is encoded by a 5.5 kb transcript in Homo sapiens by chromosome 3. There are two exons that are separated by a large intron.
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MUSCLE (multiple sequence comparison by log-expectation) is public domain, multiple sequence alignment software for protein and nucleotide sequences.
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neuromuscular junction (NMJ) is the synapse or junction of the axon terminal of a motoneuron with the motor end plate, the highly-excitable region of muscle fiber plasma membrane responsible for initiation of action potentials across the muscle's surface, ultimately
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The chemical compound acetylcholine, often abbreviated as ACh, was the first neurotransmitter to be identified. It is a chemical transmitter in both the peripheral nervous system (PNS) and central nervous system (CNS) in many organisms including humans.
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