Free for academic non-profit institutions. Other users need a Commercial license

Aliases for UTRN Gene

Aliases for UTRN Gene

  • Utrophin 2 3
  • DRP1 3 4 6
  • DMDL 3 4 6
  • Dystrophin-Related Protein 1 3 4
  • DRP-1 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 annular pancreas and dystrophinopathies. Among its related pathways are Agrin Interactions at Neuromuscular Junction. GO annotations related to this gene include calcium ion binding and protein kinase binding. An important paralog of this gene is DRP2.

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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UTRN Gene

Genomics for UTRN Gene

Regulatory Elements for UTRN Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for UTRN Gene

Start:
144,285,701 bp from pter
End:
144,853,034 bp from pter
Size:
567,334 bases
Orientation:
Plus strand

Genomic View for UTRN Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for UTRN Gene at MOPED

Post-translational modifications for UTRN Gene

  • Ubiquitination at Lys1334
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for UTRN Gene

Domains for UTRN Gene

Suggested Antigen Peptide Sequences for UTRN Gene

Graphical View of Domain Structure for InterPro Entry

P46939

UniProtKB/Swiss-Prot:

UTRO_HUMAN :
  • P46939
Domain:
  • Actin binding affinity is primarily determined by CH domain 1.
  • Contains 2 CH (calponin-homology) domains.
  • Contains 1 WW domain.
Similarity:
  • Contains 20 spectrin repeats.
  • Contains 1 ZZ-type zinc finger.
genes like me logo Genes that share domains with UTRN: view

No data available for Gene Families for UTRN Gene

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 IDA 16803572
GO:0005178 integrin binding IPI 16803572
GO:0005509 calcium ion binding --
GO:0005515 protein binding IPI 10767429
GO:0008270 zinc ion binding IEA --
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

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for UTRN

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
Jensen Localization Image for UTRN Gene COMPARTMENTS Subcellular localization image for UTRN gene
Compartment Confidence
cytoskeleton 5
nucleus 4
plasma membrane 4
cytosol 3
extracellular 2
golgi apparatus 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for UTRN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA 19786618
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with UTRN: view

Pathways for UTRN Gene

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

Pathways by source for UTRN Gene

1 Qiagen pathway for UTRN Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

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:0007568 aging IEA --
GO:0010976 positive regulation of neuron projection development IEA --
genes like me logo Genes that share ontologies with UTRN: view

Compounds for UTRN Gene

(10) Novoseek inferred chemical compound relationships for UTRN Gene

Compound -log(P) Hits PubMed IDs
dapc 82.2 3
acetylcholine 50.9 18
cardiotoxin 43.9 1
phosphotyrosine 2.22 2
nitric oxide 0 3
genes like me logo Genes that share compounds with UTRN: view

Transcripts for UTRN Gene

mRNA/cDNA for UTRN Gene

Unigene Clusters for UTRN Gene

Utrophin:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for UTRN

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for UTRN

Flow Cytometry 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 for UTRN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for UTRN Gene

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.
genes like me logo Genes that share expressions with UTRN: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues 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 35
  • 99.5 (n)
  • 99.39 (a)
UTRN 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia UTRN 35
  • 89.8 (n)
  • 91.93 (a)
UTRN 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia UTRN 35
  • 90.33 (n)
  • 92.04 (a)
UTRN 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Utrn 35
  • 84.62 (n)
  • 87.61 (a)
Utrn 16
Utrn 36
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia UTRN 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia UTRN 36
  • 83 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Utrn 35
  • 84.24 (n)
  • 87.13 (a)
chicken
(Gallus gallus)
Aves UTRN 35
  • 75.67 (n)
  • 77.87 (a)
UTRN 36
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia UTRN 36
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia utrn 35
  • 68.13 (n)
  • 68.35 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC572406 35
  • 56.96 (n)
  • 51.32 (a)
UTRN 36
  • 69 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Dys 37
  • 44 (a)
worm
(Caenorhabditis elegans)
Secernentea M116.5 37
  • 37 (a)
Species with no ortholog for UTRN:
  • 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 MAF
rs1746 -- 144,350,123(-) AGGAA(C/T)TCCTG intron-variant
rs10192 -- 144,852,962(+) AAGAA(A/C)TAATC utr-variant-3-prime
rs17082 -- 144,446,723(+) TTTCC(C/T)CATGG intron-variant
rs74671 -- 144,306,480(+) TGGGT(A/G)GTGGA intron-variant
rs587691 -- 144,286,744(+) TTTTC(A/G)AGGAG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv830831 CNV Gain 17160897
nsv830832 CNV Gain 17160897
esv2422260 CNV Deletion 17116639
dgv1160e199 CNV Deletion 23128226
nsv516523 CNV Loss 19592680
nsv527525 CNV Loss 19592680
nsv886739 CNV Loss 21882294
esv2665497 CNV Deletion 23128226
nsv510057 CNV Loss 20534489
esv2675592 CNV Deletion 23128226
nsv830833 CNV Loss 17160897
nsv5518 CNV Insertion 18451855
esv2674664 CNV Deletion 23128226
nsv886740 CNV Gain 21882294
nsv886741 CNV Loss 21882294
esv2732825 CNV Deletion 23290073
esv7877 CNV Loss 19470904
esv2676054 CNV Deletion 23128226
esv2732826 CNV Deletion 23290073
esv2659683 CNV Deletion 23128226
esv2732827 CNV Deletion 23290073

Relevant External Links for UTRN Gene

HapMap Linkage Disequilibrium report
UTRN
Human Gene Mutation Database (HGMD)
UTRN

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

Disorders for UTRN Gene

MalaCards: The human disease database

MalaCards: The human disease database. (2) Diseases for UTRN Gene including...

Search for UTRN Gene in MalaCards »

(2) University of Copenhagen DISEASES for UTRN Gene

(24) Novoseek inferred disease relationships for UTRN Gene

Disease -log(P) Hits PubMed IDs
muscular dystrophy duchenne 93.5 48
muscular dystrophy becker 87.9 19
muscular dystrophies 87.9 29
muscle degeneration 78.9 1
myasthenic syndromes congenital 60.5 2

Relevant External Links for UTRN

Genetic Association Database (GAD)
UTRN
Human Genome Epidemiology (HuGE) Navigator
UTRN
genes like me logo Genes that share disorders with UTRN: view

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

Publications for UTRN Gene

  1. Primary structure of dystrophin-related protein. (PMID: 1461283) Tinsley J.M. … Davies K.E. (Nature 1992) 3 4 23
  2. 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 23
  3. The 2.0-A structure of the second calponin homology domain from the actin-binding region of the dystrophin homologue utrophin. (PMID: 9887274) Keep N.H. … Kendrick-Jones J. (J. Mol. Biol. 1999) 3 4 23
  4. 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 23
  5. 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 23

Products for UTRN Gene

Sources for UTRN Gene

Back to Top

Content