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Aliases for UTRN Gene

Aliases for UTRN Gene

  • Utrophin 2 3 3 5
  • Dystrophin-Related Protein 1 3 4
  • DRP-1 3 4
  • DRP1 3 4
  • DMDL 3 4
  • Utrophin (Homologous To Dystrophin) 2
  • DRP 3

External Ids for UTRN Gene

Previous HGNC Symbols for UTRN Gene

  • DMDL

Previous GeneCards Identifiers for UTRN Gene

  • GC06P144460
  • GC06P144593
  • GC06P144654
  • GC06P142176

Summaries for UTRN Gene

Entrez Gene Summary for UTRN Gene

  • 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]

GeneCards Summary for UTRN Gene

UTRN (Utrophin) is a Protein Coding gene. Diseases associated with UTRN include Duchenne Muscular Dystrophy and Becker Muscular Dystrophy. Among its related pathways are Agrin Interactions at Neuromuscular Junction and Primary Focal Segmental Glomerulosclerosis FSGS. GO annotations related to this gene include calcium ion binding and actin binding. An important paralog of this gene is DMD.

UniProtKB/Swiss-Prot for UTRN Gene

  • May play a role in anchoring the cytoskeleton to the plasma membrane.

Gene Wiki entry for UTRN Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UTRN Gene

Genomics for UTRN Gene

Regulatory Elements for UTRN Gene

Enhancers for UTRN Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06G144346 1.8 FANTOM5 Ensembl ENCODE dbSUPER 5.3 +66.2 66216 10.6 HDGF PKNOX1 WRNIP1 ARID4B YY1 ZNF121 GATA2 CBX5 FOS ZNF202 TPT1P4 STX11 UTRN PLAGL1 ENSG00000225311 LOC100420214
GH06G144797 0.7 ENCODE 13.5 +512.9 512949 1.7 JUN EP300 RAD21 ZBTB40 NR2F2 YY1 FOXA1 JUND GATA3 FOSL2 UTRN ENSG00000220739 GC06M144895
GH06G144313 1.5 Ensembl ENCODE dbSUPER 5.6 +30.6 30631 5.1 HNRNPUL1 FOXA2 ATF1 ARID4B ZNF48 YY1 GATA2 SP5 MXD4 MIER2 TPT1P4 UTRN GC06P144306 ENSG00000225311
GH06G144283 1.4 ENCODE dbSUPER 5.6 +0.6 577 4.2 HNRNPUL1 PKNOX1 FOXA2 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 FOS TPT1P4 ENSG00000225311 STX11 UTRN GC06P144306
GH06G144292 1 ENCODE dbSUPER 5.8 +8.4 8420 2.2 JUN ZMYM3 CEBPB JUNB CEBPG ZNF623 EP300 MAFF JUND PRDM6 TPT1P4 ENSG00000225311 STX11 UTRN GC06P144306
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around UTRN on UCSC Golden Path with GeneCards custom track

Promoters for UTRN Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000204440 502 3601 HNRNPUL1 PKNOX1 FOXA2 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 FOS

Genomic Location for UTRN Gene

Chromosome:
6
Start:
144,285,298 bp from pter
End:
144,853,034 bp from pter
Size:
567,737 bases
Orientation:
Plus strand

Genomic View for UTRN Gene

Genes around UTRN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UTRN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UTRN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UTRN Gene

Proteins for UTRN Gene

  • Protein details for UTRN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P46939-UTRO_HUMAN
    Recommended name:
    Utrophin
    Protein Accession:
    P46939
    Secondary Accessions:
    • Q5SYY1
    • Q5SZ57
    • Q9UJ40

    Protein attributes for UTRN Gene

    Size:
    3433 amino acids
    Molecular mass:
    394466 Da
    Quaternary structure:
    • Homodimer. 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.

    Three dimensional structures from OCA and Proteopedia for UTRN Gene

    Alternative splice isoforms for UTRN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UTRN Gene

Post-translational modifications for UTRN Gene

  • Ubiquitination at isoforms=21334
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for UTRN Gene

Domains & Families for UTRN Gene

Gene Families for UTRN Gene

Suggested Antigen Peptide Sequences for UTRN Gene

Graphical View of Domain Structure for InterPro Entry

P46939

UniProtKB/Swiss-Prot:

UTRO_HUMAN :
  • Actin binding affinity is primarily determined by CH domain 1.
Domain:
  • Actin binding affinity is primarily determined by CH domain 1.
genes like me logo Genes that share domains with UTRN: view

Function for UTRN Gene

Molecular function for UTRN Gene

GENATLAS Biochemistry:
utrophin,dystrophin related protein,expressed in sensory ganglia and brain,at the synapse and myotendinous junction,associating with the dystroglycan complex and involved in association with rapsyn,in the clustering of acetylcholine receptors
UniProtKB/Swiss-Prot Function:
May play a role in anchoring the cytoskeleton to the plasma membrane.

Gene Ontology (GO) - Molecular Function for UTRN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA,IDA 16803572
GO:0005178 integrin binding IPI 16803572
GO:0005515 protein binding IPI 10767429
GO:0008270 zinc ion binding IEA --
GO:0017166 vinculin binding IPI 16803572
genes like me logo Genes that share ontologies with UTRN: view
genes like me logo Genes that share phenotypes with UTRN: view

Animal Models for UTRN Gene

MGI Knock Outs for UTRN:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for UTRN Gene

Localization for UTRN Gene

Subcellular locations from UniProtKB/Swiss-Prot for UTRN Gene

Cell junction, synapse, postsynaptic cell membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton. Note=Neuromuscular junction.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for UTRN gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 5
nucleus 5
cytosol 3
mitochondrion 2
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for UTRN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA,IDA 19786618
GO:0005856 cytoskeleton TAS 8977119
GO:0005886 plasma membrane TAS,IDA --
GO:0016010 dystrophin-associated glycoprotein complex IEA --
genes like me logo Genes that share ontologies with UTRN: view

Pathways & Interactions for UTRN Gene

genes like me logo Genes that share pathways with UTRN: view

Pathways by source for UTRN Gene

1 BioSystems pathway for UTRN Gene
1 Qiagen pathway for UTRN Gene

SIGNOR curated interactions for UTRN Gene

Is activated by:

Gene Ontology (GO) - Biological Process for UTRN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001954 positive regulation of cell-matrix adhesion IMP 19786618
GO:0006936 muscle contraction TAS 9288751
GO:0007517 muscle organ development TAS 9288751
GO:0007528 neuromuscular junction development IEA --
GO:0014894 response to denervation involved in regulation of muscle adaptation IEA --
genes like me logo Genes that share ontologies with UTRN: view

Drugs & Compounds for UTRN Gene

(6) Drugs for UTRN Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(4) Additional Compounds for UTRN Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with UTRN: view

Transcripts for UTRN Gene

Unigene Clusters for UTRN Gene

Utrophin:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for UTRN Gene

No ASD Table

Relevant External Links for UTRN Gene

GeneLoc Exon Structure for
UTRN
ECgene alternative splicing isoforms for
UTRN

Expression for UTRN Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for UTRN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for UTRN Gene

This gene is overexpressed in Peripheral blood mononuclear cells (11.2) and Uterus (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for UTRN Gene



Protein tissue co-expression partners for UTRN Gene

NURSA nuclear receptor signaling pathways regulating expression of UTRN Gene:

UTRN

SOURCE GeneReport for Unigene cluster for UTRN Gene:

Hs.133135

mRNA Expression by UniProt/SwissProt for UTRN Gene:

P46939-UTRO_HUMAN
Tissue specificity: Isoform 1 has high expression in muscle. Isoforms Up70 and Up140 were found in all the adult and fetal tissues tested and relatively abundant in lung and kidney.

Evidence on tissue expression from TISSUES for UTRN Gene

  • Liver(4.9)
  • Heart(4.4)
  • Muscle(3.6)
  • Pancreas(3.6)
  • Nervous system(3.1)
  • Blood(2.9)
  • Intestine(2.6)
  • Lung(2.6)
  • Kidney(2.2)
  • Spleen(2.2)
  • Adrenal gland(2.1)
  • Eye(2)
genes like me logo Genes that share expression patterns with UTRN: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for UTRN Gene

Orthologs for UTRN Gene

This gene was present in the common ancestor of animals.

Orthologs for UTRN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia UTRN 34 35
  • 99.5 (n)
dog
(Canis familiaris)
Mammalia UTRN 34 35
  • 90.33 (n)
cow
(Bos Taurus)
Mammalia UTRN 34 35
  • 89.8 (n)
mouse
(Mus musculus)
Mammalia Utrn 34 16 35
  • 84.62 (n)
rat
(Rattus norvegicus)
Mammalia Utrn 34
  • 84.24 (n)
oppossum
(Monodelphis domestica)
Mammalia UTRN 35
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia UTRN 35
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves UTRN 34 35
  • 75.67 (n)
lizard
(Anolis carolinensis)
Reptilia UTRN 35
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia utrn 34
  • 68.13 (n)
zebrafish
(Danio rerio)
Actinopterygii UTRN 35
  • 69 (a)
OneToOne
LOC572406 34
  • 56.96 (n)
fruit fly
(Drosophila melanogaster)
Insecta Dys 36
  • 44 (a)
worm
(Caenorhabditis elegans)
Secernentea M116.5 36
  • 37 (a)
Species where no ortholog for UTRN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for UTRN Gene

ENSEMBL:
Gene Tree for UTRN (if available)
TreeFam:
Gene Tree for UTRN (if available)

Paralogs for UTRN Gene

Paralogs for UTRN Gene

genes like me logo Genes that share paralogs with UTRN: view

Variants for UTRN Gene

Sequence variations from dbSNP and Humsavar for UTRN Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1000000211 -- 144,704,693(+) GCGTG(A/G)TGGCT intron-variant
rs1000002287 -- 144,569,526(+) TTTAT(A/T)TGTGT intron-variant
rs1000004341 -- 144,399,099(+) AGAAA(C/T)TCAGG intron-variant
rs1000009780 -- 144,504,759(+) CAGGA(C/T)GATGC intron-variant
rs1000011364 -- 144,408,238(+) CCCGC(A/G)TTCTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for UTRN Gene

Variant ID Type Subtype PubMed ID
dgv1160e199 CNV deletion 23128226
esv2422260 CNV deletion 17116639
esv2659683 CNV deletion 23128226
esv2665497 CNV deletion 23128226
esv2674664 CNV deletion 23128226
esv2675592 CNV deletion 23128226
esv2676054 CNV deletion 23128226
esv2732825 CNV deletion 23290073
esv2732826 CNV deletion 23290073
esv2732827 CNV deletion 23290073
esv2763600 CNV loss 21179565
esv3540588 CNV deletion 23714750
esv3611106 CNV loss 21293372
esv3611107 CNV loss 21293372
esv3611108 CNV loss 21293372
esv3611109 CNV loss 21293372
esv3611112 CNV loss 21293372
esv3611113 CNV loss 21293372
esv3611114 CNV gain 21293372
esv3611118 CNV loss 21293372
esv3611119 CNV loss 21293372
esv3611120 CNV loss 21293372
esv3890960 CNV loss 25118596
esv7877 CNV loss 19470904
nsv1021098 CNV gain 25217958
nsv1023014 CNV loss 25217958
nsv1032838 CNV loss 25217958
nsv1074966 CNV deletion 25765185
nsv476476 CNV novel sequence insertion 20440878
nsv510057 OTHER sequence alteration 20534489
nsv516523 CNV loss 19592680
nsv527525 CNV loss 19592680
nsv5518 CNV insertion 18451855
nsv604822 CNV loss 21841781
nsv830831 CNV gain 17160897
nsv830832 CNV gain 17160897
nsv830833 CNV loss 17160897
nsv958344 CNV deletion 24416366

Variation tolerance for UTRN Gene

Residual Variation Intolerance Score: 3.77% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.14; 84.66% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for UTRN Gene

Human Gene Mutation Database (HGMD)
UTRN
SNPedia medical, phenotypic, and genealogical associations of SNPs for
UTRN

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UTRN Gene

Disorders for UTRN Gene

MalaCards: The human disease database

(11) MalaCards diseases for UTRN Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
duchenne muscular dystrophy
  • muscular dystrophy, duchenne type
becker muscular dystrophy
  • benign congenital myopathy
neuromuscular disease
  • neuromuscular diseases
muscle tissue disease
dystrophinopathies
  • dystrophinopathy
- elite association - COSMIC cancer census association via MalaCards
Search UTRN in MalaCards View complete list of genes associated with diseases

Relevant External Links for UTRN

Genetic Association Database (GAD)
UTRN
Human Genome Epidemiology (HuGE) Navigator
UTRN
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
UTRN
genes like me logo Genes that share disorders with UTRN: view

No data available for UniProtKB/Swiss-Prot and Genatlas for UTRN Gene

Publications for UTRN Gene

  1. Adhesion-dependent tyrosine phosphorylation of (beta)-dystroglycan regulates its interaction with utrophin. (PMID: 10769203) James M. … Winder S.J. (J. Cell Sci. 2000) 3 4 22 64
  2. Up71 and up140, two novel transcripts of utrophin that are homologues of short forms of dystrophin. (PMID: 10369873) Wilson J. … Edwards Y.H. (Hum. Mol. Genet. 1999) 3 4 22 64
  3. Crystal structure of the actin-binding region of utrophin reveals a head-to-tail dimer. (PMID: 10647184) Keep N.H. … Kendrick-Jones J. (Structure 1999) 3 4 22 64
  4. Utrophin, the autosomal homologue of dystrophin, is widely-expressed and membrane-associated in cultured cell lines. (PMID: 1426262) Nguyen T.M. … Morris G.E. (FEBS Lett. 1992) 2 3 22 64
  5. Primary structure of dystrophin-related protein. (PMID: 1461283) Tinsley J.M. … Davies K.E. (Nature 1992) 3 4 22 64

Products for UTRN Gene

Sources for UTRN Gene

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