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utrophin; dystrophin-related protein 1; DRP1; DRP (UTRN, DMDL)

Function: - may play a role in anchoring the cytoskeleton to the plasma membrane - interacts with the syntrophins SNTA1; SNTB1 & SNTB2 - interacts with SYNM - may act as a functional endogenous replacement for dystrophin [3] Structure: - contains 2 CH (calponin-homology) domains - contains 20 spectrin repeats - contains 1 WW domain - contains 1 ZZ-type Zn+2 finger Compartment: - cell junction, synapse, postsynaptic cell membrane - peripheral membrane protein; cytoplasmic side - cytoplasm, cytoskeleton - neuromuscular junction Expression: muscle Pharmacology: - ezutromid, a utrophin modulator, is an investigative agent for treatment of children with Duchenne muscular dystrophy [3]

General

Ca+2 binding protein cytoskeletal protein phosphoprotein zinc finger protein

Properties

SIZE: entity length = 3433 aa MW = 394 kD COMPARTMENT: cytoplasm MOTIF: actin-binding site SITE: 1-246 FOR-BINDING-OF: F-actin MOTIF: Tyr phosphorylation site {Y4} Ser phosphorylation site {S10} calponin homology domain NAME: calponin homology domain SITE: 31-135 calponin homology domain NAME: calponin homology domain SITE: 150-252 spectrin repeat {253-308} SYNM interaction {268-905} MOTIF: Ser phosphorylation site {S295} spectrin repeat {309-417} spectrin repeat {418-526} spectrin repeat {541-637} spectrin repeat {687-798} spectrin repeat {803-902} spectrin repeat {1016-1083} spectrin repeat {1125-1230} spectrin repeat {1248-1334} MOTIF: Thr phosphorylation site {T1266} SYNM interaction {1336-1768} MOTIF: spectrin repeat {1432-1541} spectrin repeat {1544-1649} spectrin repeat {1652-1753} spectrin repeat {1910-1968} spectrin repeat {1976-2081} spectrin repeat {2258-2333} spectrin repeat {2399-2440} spectrin repeat {2443-2556} spectrin repeat {2559-2636} spectrin repeat {2658-2688} spectrin repeat {2691-2797} SYNM interaction {2798-3165} MOTIF: WW domain (W/rsp5/WWP domain) {2812-2845} Zn finger ZZ-type NAME: Zn finger ZZ-type SITE: 3064-3111 EFFECTOR-BOUND: Zn+2 Ser phosphorylation site {S3180} Ser phosphorylation site {S3182} Ser phosphorylation site {S3297} Ser phosphorylation site {S3304}

Database Correlations

OMIM 128240 UniProt P46939 PFAM correlations Entrez Gene 7402 Kegg hsa:7402

References

  1. UniProt :accession P46939
  2. Wikipedia; Note: Utrophin entry http://en.wikipedia.org/wiki/Utrophin
  3. George J, Ezutromid Shows Potential in DMD. Phase II study indicates modulating utrophin may reduce muscle inflammation. MedPage Today. April 29, 2018 https://www.medpagetoday.com/meetingcoverage/aan/72591 - Muntoni F, et al Ezutromid significantly reduced muscle damage whilst maintaining utrophin in patients with Duchenne muscular dystrophy (DMD) after 24-weeks of treatment. Anerican Academy of Neurology (AAN) 2018.