UTRN

GENE INFORMATION

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Gene name

UTRN (HGNC Symbol)

Synonyms

DMDL, DRP, DRP1

Description

Utrophin (HGNC Symbol)

Entrez gene summary

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]

Chromosome

6

Cytoband

q24.2

Chromosome location (bp)

144285701 - 144853034

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000152818 (version 78.38)

Entrez gene

7402

UniProt

P46939 (UniProt - Evidence at protein level)

neXtProt

NX_P46939

Antibodypedia

UTRN antibodies
 

PROTEIN VIEW

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UTRN-001
 
UTRN-002
 
UTRN-003
 
UTRN-004
 
UTRN-005
 
UTRN-006
 
UTRN-007
 
UTRN-008
 
UTRN-010
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

UTRN-001 ENSP00000356515
ENST00000367545
P46939
Show all »
Show » Show » 3433 394.5 No 0
UTRN-002 ENSP00000396276
ENST00000421035
Show » Show » 154 17.4 No 0
UTRN-003 ENSP00000390879
ENST00000433557
Q5SYY2
Show all »
Show » 47 5.5 No 0
UTRN-004 ENSP00000398923
ENST00000432686
Q5JT45
Show all »
Show » Show » 181 20.8 No 0
UTRN-005 ENSP00000404205
ENST00000417142
Q5JT44
Show all »
Show » Show » 184 21 No 0
UTRN-006 ENSP00000387927
ENST00000455022
Q5JT49
Show all »
Show » Show » 186 21.4 No 0
UTRN-007 ENSP00000356494
ENST00000367524
Show » Show » 251 28.5 No 0
UTRN-008 ENSP00000356495
ENST00000367525
Q5T098
Show all »
Show » 66 7.8 No 0
UTRN-010 ENSP00000356496
ENST00000367526
Q5T097
Show all »
Show » Show » 988 113.4 No 0