Human Gene UTRN (ENST00000367545.8) from GENCODE V44
Description: Homo sapiens utrophin (UTRN), transcript variant 1, mRNA. (from RefSeq NM_007124) RefSeq Summary (NM_007124): 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, Jul 2008]. Gencode Transcript: ENST00000367545.8 Gencode Gene: ENSG00000152818.20 Transcript (Including UTRs) Position: hg38 chr6:144,285,335-144,853,034 Size: 567,700 Total Exon Count: 75 Strand: + Coding Region Position: hg38 chr6:144,291,829-144,850,997 Size: 559,169 Coding Exon Count: 74
ID:UTRO_HUMAN DESCRIPTION: RecName: Full=Utrophin; AltName: Full=Dystrophin-related protein 1; Short=DRP-1; FUNCTION: May play a role in anchoring the cytoskeleton to the plasma membrane (By similarity). SUBUNIT: Interacts with the syntrophins SNTA1; SNTB1 and SNTB2. Interacts with SYNM. Interacts (via its WWW and ZZ domains) with DAG1 (via the PPXY motif of betaDAG1); the interaction is inhibited by the tyrosine phosphorylation of the PPXY motif of DAG1. SUBCELLULAR LOCATION: Cell junction, synapse, postsynaptic cell membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton. Note=Neuromuscular junction. TISSUE SPECIFICITY: Muscle. SIMILARITY: Contains 2 CH (calponin-homology) domains. SIMILARITY: Contains 20 spectrin repeats. SIMILARITY: Contains 1 WW domain. SIMILARITY: Contains 1 ZZ-type zinc finger. WEB RESOURCE: Name=Wikipedia; Note=Utrophin entry; URL="http://en.wikipedia.org/wiki/Utrophin";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P46939
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0001954 positive regulation of cell-matrix adhesion GO:0006936 muscle contraction GO:0007517 muscle organ development GO:0007528 neuromuscular junction development GO:0014894 response to denervation involved in regulation of muscle adaptation GO:2000649 regulation of sodium ion transmembrane transporter activity
US Server
