Sequence in raw or FASTA format:
UTRN utrophin [Homo sapiens (human)]
| Gene Symbol | UTRN |
| Entrez Gene ID | 7402 |
| Full Name | utrophin |
| Synonyms | DMDL, DRP, DRP1, FLJ23678 |
| Gene Type | protein-coding |
| Organism | Homo sapiens (human) |
| Genome |
6 6q24 |
| 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]. |
| Disorder | MIM: 128240 |
| Homo sapiens (human) | UTRN | NP_009055.2 |
| Pan troglodytes (chimpanzee) | UTRN | XP_001172869.1 |
| Canis lupus familiaris (dog) | UTRN | NP_001012395.1 |
| Bos taurus (cattle) | UTRN | XP_001788213.1 |
| Mus musculus (house mouse) | Utrn | NP_035812.3 |
| Rattus norvegicus (Norway rat) | Utrn | NP_037202.1 |
| Gallus gallus (chicken) | UTRN | XP_419648.2 |
| ID | Name | Evidence |
| GO:0001954 | positive regulation of cell-matrix adhesion | IMP |
| GO:0006936 | muscle contraction | TAS |
| GO:0007517 | muscle organ development | TAS |
Component
| ID | Name | Evidence |
| GO:0005624 | membrane fraction | TAS |
| GO:0005634 | nucleus | IDA |
| GO:0005730 | nucleolus | IDA |
| GO:0005737 | cytoplasm | IDA |
| GO:0005856 | cytoskeleton | IEA |
| GO:0005886 | plasma membrane | IDA |
| GO:0030054 | cell junction | IEA |
| GO:0045202 | synapse | IEA |
| GO:0045211 | postsynaptic membrane | IEA |
Function
| ID | Name | Evidence |
| GO:0003779 | actin binding | IEA |
| GO:0005509 | calcium ion binding | IEA |
| GO:0005515 | protein binding | IPI |
| GO:0008270 | zinc ion binding | IEA |
Our customer service representatives are available 24 hours a day, Monday through Friday; please contact us anytime for assistance.
| Secured Online Quotation | |
| Email: gene@genscript.com | |
| Phone: 1-877-436-7274 (Toll-Free) 1-732-885-9188 | |
| Fax: 1-732-210-0262 1-732-885-5878 |


