Human Gene UTRN (ENST00000367526.8) Description and Page Index
  Description: utrophin (from HGNC UTRN)
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]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: X69086.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END##
Gencode Transcript: ENST00000367526.8
Gencode Gene: ENSG00000152818.18
Transcript (Including UTRs)
   Position: hg38 chr6:144,583,210-144,851,003 Size: 267,794 Total Exon Count: 25 Strand: +
Coding Region
   Position: hg38 chr6:144,583,457-144,850,997 Size: 267,541 Coding Exon Count: 25 

Page IndexSequence and LinksMalaCardsCTDRNA-Seq ExpressionMicroarray Expression
RNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA DescriptionsPathways
Other NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:144,583,210-144,851,003)mRNA (may differ from genome)Protein (988 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblExonPrimerGeneCardsHGNCLynx
MGIPubMedStanford SOURCEUniProtKBWikipedia

-  MalaCards Disease Associations
  MalaCards Gene Search: UTRN
Diseases sorted by gene-association score: becker muscular dystrophy (26), duchenne muscular dystrophy (23), neuromuscular disease (18), muscle tissue disease (14), dystrophinopathies (13), cytoplasmic body myopathy (10), congenital myasthenic syndrome (7), sarcoglycanopathies (7), dermatomyositis (7), muscular dystrophy (7), myopathy (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 19.88 RPKM in Nerve - Tibial
Total median expression: 392.22 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -63.70247-0.258 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011992 - EF-hand-like_dom
IPR015153 - EF-hand_dom_typ1
IPR015154 - EF-hand_dom_typ2
IPR018159 - Spectrin/alpha-actinin
IPR002017 - Spectrin_repeat
IPR001202 - WW_Rsp5_WWP
IPR000433 - Znf_ZZ

Pfam Domains:
PF09068 - EF hand
PF09069 - EF-hand
PF00435 - Spectrin repeat
PF00397 - WW domain
PF00569 - Zinc finger, ZZ type

ModBase Predicted Comparative 3D Structure on Q5T097
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0008270 zinc ion binding
GO:0046872 metal ion binding


-  Descriptions from all associated GenBank mRNAs
  LF208701 - JP 2014500723-A/16204: Polycomb-Associated Non-Coding RNAs.
MA444278 - JP 2018138019-A/16204: Polycomb-Associated Non-Coding RNAs.
GU014834 - Synthetic construct Homo sapiens clone IMAGE:100068738; MGC:198452 utrophin (UTRN) gene, encodes complete protein.
X69086 - H.sapiens mRNA for utrophin.
X15488 - Human mRNA fragment for dystrophin-related protein.
LF321793 - JP 2014500723-A/129296: Polycomb-Associated Non-Coding RNAs.
MA557370 - JP 2018138019-A/129296: Polycomb-Associated Non-Coding RNAs.
LF321768 - JP 2014500723-A/129271: Polycomb-Associated Non-Coding RNAs.
MA557345 - JP 2018138019-A/129271: Polycomb-Associated Non-Coding RNAs.
LF321761 - JP 2014500723-A/129264: Polycomb-Associated Non-Coding RNAs.
MA557338 - JP 2018138019-A/129264: Polycomb-Associated Non-Coding RNAs.
LF321760 - JP 2014500723-A/129263: Polycomb-Associated Non-Coding RNAs.
MA557337 - JP 2018138019-A/129263: Polycomb-Associated Non-Coding RNAs.
LF321754 - JP 2014500723-A/129257: Polycomb-Associated Non-Coding RNAs.
MA557331 - JP 2018138019-A/129257: Polycomb-Associated Non-Coding RNAs.
LF321751 - JP 2014500723-A/129254: Polycomb-Associated Non-Coding RNAs.
MA557328 - JP 2018138019-A/129254: Polycomb-Associated Non-Coding RNAs.
LF321750 - JP 2014500723-A/129253: Polycomb-Associated Non-Coding RNAs.
MA557327 - JP 2018138019-A/129253: Polycomb-Associated Non-Coding RNAs.
LF321722 - JP 2014500723-A/129225: Polycomb-Associated Non-Coding RNAs.
MA557299 - JP 2018138019-A/129225: Polycomb-Associated Non-Coding RNAs.
LF321720 - JP 2014500723-A/129223: Polycomb-Associated Non-Coding RNAs.
MA557297 - JP 2018138019-A/129223: Polycomb-Associated Non-Coding RNAs.
LF321719 - JP 2014500723-A/129222: Polycomb-Associated Non-Coding RNAs.
MA557296 - JP 2018138019-A/129222: Polycomb-Associated Non-Coding RNAs.
LF321715 - JP 2014500723-A/129218: Polycomb-Associated Non-Coding RNAs.
MA557292 - JP 2018138019-A/129218: Polycomb-Associated Non-Coding RNAs.
LF321714 - JP 2014500723-A/129217: Polycomb-Associated Non-Coding RNAs.
MA557291 - JP 2018138019-A/129217: Polycomb-Associated Non-Coding RNAs.
LF321713 - JP 2014500723-A/129216: Polycomb-Associated Non-Coding RNAs.
MA557290 - JP 2018138019-A/129216: Polycomb-Associated Non-Coding RNAs.
LF321711 - JP 2014500723-A/129214: Polycomb-Associated Non-Coding RNAs.
MA557288 - JP 2018138019-A/129214: Polycomb-Associated Non-Coding RNAs.
LF321710 - JP 2014500723-A/129213: Polycomb-Associated Non-Coding RNAs.
MA557287 - JP 2018138019-A/129213: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_agrPathway - Agrin in Postsynaptic Differentiation

-  Other Names for This Gene
  Alternate Gene Symbols: GU014834, Q5T097, Q5T097_HUMAN, RP11-352E13.1-010, uc063sal.1
UCSC ID: uc063sal.1
RefSeq Accession: NM_007124
Protein: Q5T097

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.