Human Gene UTRN (ENST00000367545.8_4) from GENCODE V47lift37
  Description: utrophin, transcript variant 1 (from RefSeq NM_007124.3)
Gencode Transcript: ENST00000367545.8_4
Gencode Gene: ENSG00000152818.20_17
Transcript (Including UTRs)
   Position: hg19 chr6:144,606,471-145,174,170 Size: 567,700 Total Exon Count: 75 Strand: +
Coding Region
   Position: hg19 chr6:144,612,965-145,172,133 Size: 559,169 Coding Exon Count: 74 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:144,606,471-145,174,170)mRNA (may differ from genome)Protein (3433 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  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";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  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 -200.10579-0.346 Picture PostScript Text
3' UTR -425.602037-0.209 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
IPR001589 - Actinin_actin-bd_CS
IPR001715 - CH-domain
IPR016344 - Dystrophin/utrophin
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:
PF00307 - Calponin homology (CH) domain
PF00397 - WW domain
PF00435 - Spectrin repeat
PF00569 - Zinc finger, ZZ type
PF09068 - EF hand
PF09069 - EF-hand

SCOP Domains:
47473 - EF-hand
47576 - Calponin-homology domain, CH-domain
116907 - Hook domain
46966 - Spectrin repeat
51045 - WW domain
57850 - RING/U-box

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1BHD - X-ray MuPIT 1QAG - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P46939
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
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003779 actin binding
GO:0005178 integrin binding
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0017166 vinculin binding
GO:0019901 protein kinase binding
GO:0046872 metal ion binding
GO:0051015 actin filament binding

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

Cellular Component:
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0016010 dystrophin-associated glycoprotein complex
GO:0016020 membrane
GO:0030054 cell junction
GO:0030175 filopodium
GO:0030426 growth cone
GO:0030864 cortical actin cytoskeleton
GO:0031527 filopodium membrane
GO:0031594 neuromuscular junction
GO:0032991 macromolecular complex
GO:0042383 sarcolemma
GO:0045202 synapse
GO:0045211 postsynaptic membrane
GO:0070062 extracellular exosome
GO:0070938 contractile ring


-  Descriptions from all associated GenBank mRNAs
  LF208701 - JP 2014500723-A/16204: Polycomb-Associated Non-Coding RNAs.
AK292506 - Homo sapiens cDNA FLJ77189 partial cds, highly similar to Homo sapiens utrophin (homologous to dystrophin) (UTRN), mRNA.
GU014834 - Synthetic construct Homo sapiens clone IMAGE:100068738; MGC:198452 utrophin (UTRN) gene, encodes complete protein.
X69086 - H.sapiens mRNA for utrophin.
MA444278 - JP 2018138019-A/16204: Polycomb-Associated Non-Coding RNAs.
LF321864 - JP 2014500723-A/129367: Polycomb-Associated Non-Coding RNAs.
MA557441 - JP 2018138019-A/129367: Polycomb-Associated Non-Coding RNAs.
LF321839 - JP 2014500723-A/129342: Polycomb-Associated Non-Coding RNAs.
LF321838 - JP 2014500723-A/129341: Polycomb-Associated Non-Coding RNAs.
LF321837 - JP 2014500723-A/129340: Polycomb-Associated Non-Coding RNAs.
LF321836 - JP 2014500723-A/129339: Polycomb-Associated Non-Coding RNAs.
LF321835 - JP 2014500723-A/129338: Polycomb-Associated Non-Coding RNAs.
LF321834 - JP 2014500723-A/129337: Polycomb-Associated Non-Coding RNAs.
LF321833 - JP 2014500723-A/129336: Polycomb-Associated Non-Coding RNAs.
LF321832 - JP 2014500723-A/129335: Polycomb-Associated Non-Coding RNAs.
LF321831 - JP 2014500723-A/129334: Polycomb-Associated Non-Coding RNAs.
LF321830 - JP 2014500723-A/129333: Polycomb-Associated Non-Coding RNAs.
LF321829 - JP 2014500723-A/129332: Polycomb-Associated Non-Coding RNAs.
LF321828 - JP 2014500723-A/129331: Polycomb-Associated Non-Coding RNAs.
LF321827 - JP 2014500723-A/129330: Polycomb-Associated Non-Coding RNAs.
LF321826 - JP 2014500723-A/129329: Polycomb-Associated Non-Coding RNAs.
LF321825 - JP 2014500723-A/129328: Polycomb-Associated Non-Coding RNAs.
LF321824 - JP 2014500723-A/129327: Polycomb-Associated Non-Coding RNAs.
LF321823 - JP 2014500723-A/129326: Polycomb-Associated Non-Coding RNAs.
LF321822 - JP 2014500723-A/129325: Polycomb-Associated Non-Coding RNAs.
LF321821 - JP 2014500723-A/129324: Polycomb-Associated Non-Coding RNAs.
LF321819 - JP 2014500723-A/129322: Polycomb-Associated Non-Coding RNAs.
LF321815 - JP 2014500723-A/129318: Polycomb-Associated Non-Coding RNAs.
LF321814 - JP 2014500723-A/129317: Polycomb-Associated Non-Coding RNAs.
LF321813 - JP 2014500723-A/129316: Polycomb-Associated Non-Coding RNAs.
LF321812 - JP 2014500723-A/129315: Polycomb-Associated Non-Coding RNAs.
LF321811 - JP 2014500723-A/129314: Polycomb-Associated Non-Coding RNAs.
LF321809 - JP 2014500723-A/129312: Polycomb-Associated Non-Coding RNAs.
LF321808 - JP 2014500723-A/129311: Polycomb-Associated Non-Coding RNAs.
MA557416 - JP 2018138019-A/129342: Polycomb-Associated Non-Coding RNAs.
MA557415 - JP 2018138019-A/129341: Polycomb-Associated Non-Coding RNAs.
MA557414 - JP 2018138019-A/129340: Polycomb-Associated Non-Coding RNAs.
MA557413 - JP 2018138019-A/129339: Polycomb-Associated Non-Coding RNAs.
MA557412 - JP 2018138019-A/129338: Polycomb-Associated Non-Coding RNAs.
MA557411 - JP 2018138019-A/129337: Polycomb-Associated Non-Coding RNAs.
MA557410 - JP 2018138019-A/129336: Polycomb-Associated Non-Coding RNAs.
MA557409 - JP 2018138019-A/129335: Polycomb-Associated Non-Coding RNAs.
MA557408 - JP 2018138019-A/129334: Polycomb-Associated Non-Coding RNAs.
MA557407 - JP 2018138019-A/129333: Polycomb-Associated Non-Coding RNAs.
MA557406 - JP 2018138019-A/129332: Polycomb-Associated Non-Coding RNAs.
MA557405 - JP 2018138019-A/129331: Polycomb-Associated Non-Coding RNAs.
MA557404 - JP 2018138019-A/129330: Polycomb-Associated Non-Coding RNAs.
MA557403 - JP 2018138019-A/129329: Polycomb-Associated Non-Coding RNAs.
MA557402 - JP 2018138019-A/129328: Polycomb-Associated Non-Coding RNAs.
MA557401 - JP 2018138019-A/129327: Polycomb-Associated Non-Coding RNAs.
MA557400 - JP 2018138019-A/129326: Polycomb-Associated Non-Coding RNAs.
MA557399 - JP 2018138019-A/129325: Polycomb-Associated Non-Coding RNAs.
MA557398 - JP 2018138019-A/129324: Polycomb-Associated Non-Coding RNAs.
MA557396 - JP 2018138019-A/129322: Polycomb-Associated Non-Coding RNAs.
MA557392 - JP 2018138019-A/129318: Polycomb-Associated Non-Coding RNAs.
MA557391 - JP 2018138019-A/129317: Polycomb-Associated Non-Coding RNAs.
MA557390 - JP 2018138019-A/129316: Polycomb-Associated Non-Coding RNAs.
MA557389 - JP 2018138019-A/129315: Polycomb-Associated Non-Coding RNAs.
MA557388 - JP 2018138019-A/129314: Polycomb-Associated Non-Coding RNAs.
MA557386 - JP 2018138019-A/129312: Polycomb-Associated Non-Coding RNAs.
MA557385 - JP 2018138019-A/129311: Polycomb-Associated Non-Coding RNAs.
LF321807 - JP 2014500723-A/129310: Polycomb-Associated Non-Coding RNAs.
LF321806 - JP 2014500723-A/129309: Polycomb-Associated Non-Coding RNAs.
LF321805 - JP 2014500723-A/129308: Polycomb-Associated Non-Coding RNAs.
LF321804 - JP 2014500723-A/129307: Polycomb-Associated Non-Coding RNAs.
LF321803 - JP 2014500723-A/129306: Polycomb-Associated Non-Coding RNAs.
LF321802 - JP 2014500723-A/129305: Polycomb-Associated Non-Coding RNAs.
LF321799 - JP 2014500723-A/129302: Polycomb-Associated Non-Coding RNAs.
LF321795 - JP 2014500723-A/129298: Polycomb-Associated Non-Coding RNAs.
MA557384 - JP 2018138019-A/129310: Polycomb-Associated Non-Coding RNAs.
MA557383 - JP 2018138019-A/129309: Polycomb-Associated Non-Coding RNAs.
MA557382 - JP 2018138019-A/129308: Polycomb-Associated Non-Coding RNAs.
MA557381 - JP 2018138019-A/129307: Polycomb-Associated Non-Coding RNAs.
MA557380 - JP 2018138019-A/129306: Polycomb-Associated Non-Coding RNAs.
MA557379 - JP 2018138019-A/129305: Polycomb-Associated Non-Coding RNAs.
MA557376 - JP 2018138019-A/129302: Polycomb-Associated Non-Coding RNAs.
MA557372 - JP 2018138019-A/129298: Polycomb-Associated Non-Coding RNAs.
LF321768 - JP 2014500723-A/129271: Polycomb-Associated Non-Coding RNAs.
LF321761 - JP 2014500723-A/129264: Polycomb-Associated Non-Coding RNAs.
LF321760 - JP 2014500723-A/129263: Polycomb-Associated Non-Coding RNAs.
LF321754 - JP 2014500723-A/129257: Polycomb-Associated Non-Coding RNAs.
LF321751 - JP 2014500723-A/129254: Polycomb-Associated Non-Coding RNAs.
LF321750 - JP 2014500723-A/129253: Polycomb-Associated Non-Coding RNAs.
MA557345 - JP 2018138019-A/129271: Polycomb-Associated Non-Coding RNAs.
MA557338 - JP 2018138019-A/129264: Polycomb-Associated Non-Coding RNAs.
MA557337 - JP 2018138019-A/129263: Polycomb-Associated Non-Coding RNAs.
MA557331 - JP 2018138019-A/129257: Polycomb-Associated Non-Coding RNAs.
MA557328 - JP 2018138019-A/129254: Polycomb-Associated Non-Coding RNAs.
MA557327 - JP 2018138019-A/129253: Polycomb-Associated Non-Coding RNAs.
X15488 - Human mRNA fragment for dystrophin-related protein.
LF321722 - JP 2014500723-A/129225: Polycomb-Associated Non-Coding RNAs.
LF321720 - JP 2014500723-A/129223: Polycomb-Associated Non-Coding RNAs.
LF321719 - JP 2014500723-A/129222: Polycomb-Associated Non-Coding RNAs.
LF321715 - JP 2014500723-A/129218: Polycomb-Associated Non-Coding RNAs.
LF321714 - JP 2014500723-A/129217: Polycomb-Associated Non-Coding RNAs.
LF321713 - JP 2014500723-A/129216: Polycomb-Associated Non-Coding RNAs.
LF321711 - JP 2014500723-A/129214: Polycomb-Associated Non-Coding RNAs.
LF321710 - JP 2014500723-A/129213: Polycomb-Associated Non-Coding RNAs.
AK023675 - Homo sapiens cDNA FLJ13613 fis, clone PLACE1010856.
LF321702 - JP 2014500723-A/129205: Polycomb-Associated Non-Coding RNAs.
MA557299 - JP 2018138019-A/129225: Polycomb-Associated Non-Coding RNAs.
MA557297 - JP 2018138019-A/129223: Polycomb-Associated Non-Coding RNAs.
MA557296 - JP 2018138019-A/129222: Polycomb-Associated Non-Coding RNAs.
MA557292 - JP 2018138019-A/129218: Polycomb-Associated Non-Coding RNAs.
MA557291 - JP 2018138019-A/129217: Polycomb-Associated Non-Coding RNAs.
MA557290 - JP 2018138019-A/129216: Polycomb-Associated Non-Coding RNAs.
MA557288 - JP 2018138019-A/129214: Polycomb-Associated Non-Coding RNAs.
MA557287 - JP 2018138019-A/129213: Polycomb-Associated Non-Coding RNAs.
MA557279 - JP 2018138019-A/129205: 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: DMDL, DRP1, ENST00000367545.1, ENST00000367545.2, ENST00000367545.3, ENST00000367545.4, ENST00000367545.5, ENST00000367545.6, ENST00000367545.7, NM_007124, P46939, Q5SYY1, Q5SZ57, Q9UJ40, uc318fzq.1, uc318fzq.2, UTRN , UTRN_HUMAN
UCSC ID: ENST00000367545.8_4
RefSeq Accession: NM_007124.3
Protein: P46939 (aka UTRO_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

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