Aliases &
Descriptions
for UTRN gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase)
About This Section
|
| Aliases & Descriptions |
|---|
| utrophin1 2 | | Dystrophin-related protein 12 3 | | DRP11 2 3 5 | | DRP-12 3 | | DMDL2 3 5 | | utrophin (homologous to dystrophin)1 | | DRP1 2 | | FLJ236782 |
Export aliases for UTRN gene to outside databasesPrevious GC identifers: GC06P144236 GC06P144460 GC06P144593 GC06P144654 |
Summaries
for UTRN gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for UTRN:
This gene shares both structural and functional similarities with the dystrophin gene. It contains an actin-bindingN-terminus, a triple coiled-coil repeat central region, and a C-terminus that consists of protein-protein interactionmotifs which interact with dystroglycan protein components. The protein encoded by this gene is located at theneuromuscular synapse and myotendinous junctions, where it participates in post-synaptic membrane maintenance andacetylcholine receptor clustering. Mouse studies suggest that this gene may serve as a functional substitute for thedystrophin gene and therefore, may serve as a potential therapeutic alternative to muscular dystrophy which is causedby mutations in the dystrophin gene. Alternative splicing of the utrophin gene has been described; however, thefull-length nature of these variants has not yet been determined. (provided by RefSeq)
UniProtKB/Swiss-Prot: UTRO_HUMAN, P46939Function: May play a role in anchoring the cytoskeleton to the plasma membrane (By similarity)
Gene Wiki entry for UTRN (Utrophin) |
Genomic Views
for UTRN gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 60),
Regulatory elements and Epigenetics data according to
Qiagen and/or
SABiosciences)
About This Section
|
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the UTRN gene promoter:
AP-1 Sp1 c-Rel c-Jun c-Fos RORalpha2 GR-beta GR-alpha C/EBPbeta SRF
Other transcription factors
Search SABiosciences Chromatin IP Primers for UTRN
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for UTRN  |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 6q24 Ensembl cytogenetic band: 6q24.2 HGNC cytogenetic band: 6q24UTRN Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc gene densities for chromosome 6 GeneLoc Exon Structure GeneLoc location for GC06P142176: view genomic region
(about GC identifiers)
Start:
|
142,176,382 bp from pter |
End:
|
142,737,622 bp from pter |
Size:
|
561,241 bases |
Orientation:
|
plus strand |
1 alternative location:
| Chr6+ 144,606,837-145,174,170 |
RefSeq DNA sequence:- NC_000006.11 NT_025741.15
|
Proteins
for UTRN gene
(According to
1UniProtKB,
neXtProt,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
Millipore,
Sigma-Aldrich,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological, and/or
ProSpec,
Biochemical Assays by
Millipore,
Sigma-Aldrich,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Dec 2010 and
Entrez Gene,
Antibodies by
Millipore,
Sigma-Aldrich,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals, and/or
Epitomics)
About This Section
|
UniProtKB/Swiss-Prot: UTRO_HUMAN, P46939 (See
protein sequence)Recommended Name: Utrophin Size: 3433 amino acids; 394466 Da
Subunit: Interacts with the syntrophins SNTA1; SNTB1 and SNTB2. Interacts with SYNM. Interacts (via its WWW and ZZdomains) with DAG1 (via the PPXY motif of betaDAG1); the interaction is inhibited by the tyrosine phosphorylation ofthe PPXY motif of DAG1
Subcellular location: Cell junction, synapse, postsynaptic cell membrane; Peripheral membrane protein; Cytoplasmicside. Cytoplasm, cytoskeleton. Note=Neuromuscular junction
PDB structure from  and Proteopedia  :1BHD (3D)
1QAG (3D)
Secondary accessions: Q5SZ57Explore the universe of human proteins at neXtProt for UTRN: NX_P46939
Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_009055.2
ENSEMBL proteins: ENSP00000356495 ENSP00000387927 ENSP00000404205 ENSP00000390879 ENSP00000398923 ENSP00000396276 ENSP00000356515 ENSP00000356494 ENSP00000393815 ENSP00000356499 ENSP00000356496
Human Recombinant Proteins
5/11 Gene Ontology (GO) cellular component terms (GO ID links to tree view) (see all 11): About this table
UTRN for ontologies About GeneDecksing
Antibodies for UTRN:
Assays for UTRN: |
Protein
Domains/
Families
for UTRN gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
UTRN for domains About GeneDecksing
5/10 InterPro domains/families (see all 10):Graphical View of Domain Structure for InterPro Entry P46939ProtoNet protein and cluster: P46939 5 Blocks protein families: IPB000433 Zn-finger IPB001589 Actin-binding IPB001715 Calponin-like actin-binding IPB002017 Spectrin repeat IPB002349 WW domain signature
UniProtKB/Swiss-Prot: UTRO_HUMAN, P46939Similarity: Contains 2 CH (calponin-homology) domainsSimilarity: Contains 20 spectrin repeatsSimilarity: Contains 1 WW domainSimilarity: Contains 1 ZZ-type zinc finger |
Gene Function
for UTRN gene
(According to UniProtKB,
IUBMB,and/or
Genatlas, Animal models from MGI Dec 24 2010,
shRNA from
OriGene,
Sigma-Aldrich,
RNAi from
Millipore,
siRNAs from
Sigma-Aldrich,
OriGene,
Qiagen,
Super-pooled esiRNAs from Sigma-Aldrich,
microRNA from Sigma-Aldrich,
Qiagen,
SABiosciences,
Clones from Millipore,
Sigma-Aldrich,
OriGene,
GenScript,
Sino Biological,
Cell Lines from GenScript,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene.)
About This Section
|
UniProtKB/Swiss-Prot: UTRO_HUMAN, P46939Function: May play a role in anchoring the cytoskeleton to the plasma membrane (By similarity)
Genatlas biochemistry entry for UTRN:utrophin,dystrophin related protein,expressed in sensory ganglia and brain,at the synapse and myotendinousjunction,associating with the dystroglycan complex and involved in association with rapsyn,in the clustering ofacetylcholine receptors4 Gene Ontology (GO) molecular function terms (GO ID links to tree view): About this table
UTRN for ontologies About GeneDecksing
Animal Models: 14 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Utrn):
UTRN for phenotypes About GeneDecksing
|
Pathways & Interactions
for UTRN gene
(Pathways according to
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
PCR Arrays from
SABiosciences,
Proteins Network according to
SABiosciences,
Sigma-Aldrich,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene).
About This Section
|
UTRN for pathways About GeneDecksing
1  Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathway for UTRN
SABiosciences Pathway-Focused PCR Array including UTRN: PAHS-099A
Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for UTRN
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for UTRN
5/48 Interacting proteins for UTRN (ENSP000003565153 P469391, 2) via UniProtKB, MINT, and/or STRING (see all 48)About this table
3 Gene Ontology (GO) biological process terms (GO ID links to tree view): About this table
UTRN for ontologies About GeneDecksing
|
Drugs & Compounds
for UTRN gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
UTRN for compounds About GeneDecksing
 Browse Tocris compounds for UTRN
10  Novoseek chemical compound relationships for UTRN gene
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| dapc |
82.2 |
3 |
10814717 (2), 16611689 (1) |
| acetylcholine |
50.9 |
20 |
9077444 (2), 8919248 (1), 8674136 (1), 17921863 (1) (see all 17) |
| cardiotoxin |
43.9 |
1 |
10197815 (1) |
| phosphotyrosine |
2.22 |
2 |
9060469 (1), 9117347 (1) |
| nitric oxide |
0 |
3 |
17127434 (1), 11747092 (1), 15034255 (1) |
| calcium |
0 |
2 |
7805877 (2) |
| zinc |
0 |
4 |
10871758 (2), 19965907 (1), 17009962 (1) |
| tyrosine |
0 |
11 |
10769203 (6), 9060469 (1), 8640231 (1) |
| arginine |
0 |
3 |
15561099 (1), 11747092 (1), 20505827 (1) |
| creatinine |
0 |
2 |
7881285 (1), 11238465 (1) |
About this table
|
Transcripts
for UTRN gene(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 228 Homo sapiens; Dec 8 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
Millipore,
siRNAs from
Sigma-Aldrich,
OriGene,
Qiagen,
Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
microRNA from Sigma-Aldrich,
Qiagen,
SABiosciences,
Tagged/untagged cDNA clones from
OriGene,
Sigma-Aldrich,
GenScript,
Primers from
OriGene and/or
SABiosciences)
About This Section
|
REFSEQ mRNAs for UTRN gene: NM_007124.2 Additional cDNA sequence: AK023675.1 AK292506.1 X15488.1 X69086.1 24/25 DOTS entries (see all 25): DT.316975 DT.95289437 DT.95289438 DT.91892868 DT.91707523 DT.92027387 DT.91970601 DT.102833264 DT.121357524 DT.91794183 DT.121357568 DT.91642199 DT.97802607 DT.86853120 DT.92449434 DT.92449435 DT.121357409 DT.121357518 DT.121357547 DT.91834826 DT.91893668 DT.91903823 DT.91966923 DT.92449428 12 AceView cDNA sequences: BP359217 BP359624 BX473114 CD653134 CD698150 CD691005 AV761929 CD694536 CD707628 CD691266 BE719085 CD694201
 highest scoring ESTs for UTRN:AL046946 W84486 AA025239 AA026026 AA046146 AA046321 AA233855 AA358108 AA503827 AA557618 Unigene Cluster for UTRN: Utrophin Hs.133135 [show with all ESTs]Unigene Representative Sequence: NM_007124
GeneLoc Exon Structure
14 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000460618 ENST00000367525 ENST00000465299 ENST00000455022 ENST00000417142
ENST00000480333 ENST00000433557 ENST00000432686 ENST00000421035 ENST00000367545(uc003qkt.2)
ENST00000367524 ENST00000455675 ENST00000367529(uc010khq.1) ENST00000367526
|
Expression
for UTRN gene
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 228 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Primers from
OriGene and/or
SABiosciences
)
About This Section
| UTRN expression in normal and diseased human tissues
1 / 2 / 3 9 probe-sets matching UTRN gene
Affymetrix
probe-set |
Array |
GeneAnnot data |
GeneNote data |
GeneTide data |
| # genes |
Sensitivity |
Specificity |
Correlation |
Length |
Gb_Accession |
Consensus |
Uniqueness |
Score |
Rank |
| 45231_at2, 3
|
U95-B |
1 |
1.00 |
1.00 |
0.96 |
1.14 |
AL046946 |
1.00 |
1.00 |
1.00 |
1 |
| 62733_at2, 3
|
U95-C |
1 |
0.88 |
1.00 |
0.95 |
1.02 |
W84486 |
1.00 |
1.00 |
1.00 |
1 |
| 41390_at2, 3
|
U95-A |
1 |
0.81 |
1.00 |
0.94 |
0.84 |
X69086 |
0.80 |
1.00 |
0.91 |
1 |
| 225093_at2, 3
|
U133-B |
1 |
1.00 |
1.00 |
-- |
-- |
N66570 |
0.80 |
1.00 |
0.91 |
1 |
| 213023_at2, 3
|
U133-A |
1 |
1.00 |
1.00 |
-- |
-- |
NM_007124 |
0.60 |
1.00 |
0.82 |
1 |
| 213022_s_at2, 3
|
U133-A |
1 |
0.82 |
1.00 |
-- |
-- |
NM_007124 |
0.60 |
1.00 |
0.82 |
1 |
| 225093_at2
|
U133Plus2 |
1 |
1.00 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
| 213023_at2
|
U133Plus2 |
1 |
1.00 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
| 213022_s_at2
|
U133Plus2 |
1 |
0.82 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
About this table
UTRN for expression About GeneDecksing
Data from
Genenote
(Publications) and GNF BioGPS
About these images
About these images
CGAP SAGE TAG: TGTTAATTTT
SOURCE GeneReport for Unigene cluster: Hs.133135
Expression variation in blood from EXPOLDB for UTRN UniProtKB/Swiss-Prot: UTRO_HUMAN, P46939Tissue specificity: Muscle
SABiosciences Expression via Pathway-Focused PCR Array including UTRN: PAHS-099A
|
Orthologs
for UTRN gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Dec 24 2010,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for UTRN gene from 5/10 species (see all 10)
About this table Species with no ortholog for UTRN
ENSEMBL Gene Tree for UTRN (if available) |
Paralogs
for UTRN gene(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section
| Paralogs for UTRN gene
- DTNA2 DYTN2 DTNB2 DMD2 DRP22
UTRN for paralogs About GeneDecksing
|
Genomic Variants
for UTRN gene(SNPs according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Chr 6 pos | Sequence | Recs | AA
Chg | Type | More | Recs | Allele
freq | Pop | Total
sample | More |
|---|
About this tableHapMap Linkage Disequilibrium images for UTRN (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 5 variations for UTRN
4 CNVs: 94073 51815 81620 5395
1 Indel: 62585 | | QIAGEN SeqTarget long-range PCR primers for resequencing UTRN |
|
Disorders & Mutations
for UTRN gene
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
LSDB, HGMD, GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
UTRN for disorders About GeneDecksing
OMIM: 128240
10/24 Novoseek disease relationships for UTRN gene (see all 24)
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| muscular dystrophy duchenne |
93.5 |
57 |
7881285 (2), 8246010 (2), 16595608 (2), 14659408 (2) (see all 44) |
| muscular dystrophy becker |
87.9 |
22 |
8352853 (2), 8759779 (2), 10483791 (2), 7919618 (2) (see all 15) |
| muscular dystrophies |
87.9 |
33 |
16295426 (5), 7898714 (2), 10707847 (2), 19416869 (2) (see all 21) |
| muscle degeneration |
78.9 |
1 |
18385524 (1) |
| myasthenic syndromes congenital |
60.5 |
2 |
9443457 (1), 11030414 (1) |
| myopathy |
56.3 |
5 |
9829811 (2), 8866746 (1), 10707847 (1) |
| muscle necrosis |
53.8 |
1 |
11015608 (1) |
| neuromuscular diseases |
49.8 |
11 |
8981315 (3), 9829811 (2), 8078878 (1), 8012191 (1) (see all 7) |
| myositis |
42 |
5 |
8440993 (1), 9829811 (1), 1483043 (1), 10707847 (1) |
| dermatomyositis |
33.5 |
5 |
1483043 (1), 7843413 (1), 12619170 (1) |
About this table
Human Gene Mutation Database (HGMD): UTRN
Human Genome Epidemiology (HuGE) Navigator: UTRN (2 documents)
Export disorders and mutations for UTRN gene to outside databases
|
Medical News
for UTRN gene(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications
for UTRN gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6UniProtKB/TrEMBL, and/or
7Novoseek)
About This Section
|
10/262 PubMed articles for UTRN gene, integrated from 7 sources (see all 262):
(articles sorted by number of sources associating them with UTRN)- Primary structure of dystrophin-related protein. (PubMed id 1461283)1, 2, 7 Tinsley J.M.... Davies K.E. (1992)
- Adhesion-dependent tyrosine phosphorylation of (beta)-dystroglycan regulates its interaction with utrophin. (PubMed id 10769203)1, 2, 7 James M....Winder S.J. (2000)
- Crystal structure of the actin-binding region of utrophin reveals a head-to-tail dimer. (PubMed id 10647184)1, 2, 7 Keep N.H....Kendrick-Jones J. (1999)
- Utrophin, the autosomal homologue of dystrophin, is widely-expressed and membrane-associated in cultured cell lines. (PubMed id 1426262)1, 3, 7 Nguyen T.M....Morris G.E. (1992)
- Interactions of intermediate filament protein synemin with dystrophin and utrophin. (PubMed id 16777071)1, 2, 7 Bhosle R.C.... Robson R.M. (2006)
- The 2.0-A structure of the second calponin homology domain from the actin-binding region of the dystrophin homologue utrophin. (PubMed id 9887274)1, 2, 7 Keep N.H....Kendrick-Jones J. (1999)
- Contribution of the different modules in the utrophin carboxy-terminal region to the formation and regulation of the DAP complex. (PubMed id 10767429)1, 2, 7 Tommasi di Vignano A....Dente L. (2000)
- Syntrophin binds to an alternatively spliced exon of dystrophin. (PubMed id 7844150)1, 2, 7 Ahn A.H. and Kunkel L.M. (1995)
- Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
- The three human syntrophin genes are expressed in diverse tissues, have distinct chromosomal locations, and each bind to dystrophin and its relatives. (PubMed id 8576247)1, 2 Ahn A.H.... Kunkel L.M. (1996)
|
External Searches for UTRN gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing UTRN gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing UTRN gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing UTRN gene(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| Wikipedia | http://en.wikipedia.org/wiki/Utrophin |
|
| | |
About This Section
| Patent Information for UTRN gene:
Search GeneIP for patents involving UTRN
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for UTRN gene(Antibodies, recombinant proteins, and assays by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn,
Clones available from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, PCR Arrays from SABiosciences, Drugs and/or compounds by Sigma-Aldrich, Tocris Bioscience, and/or
Enzo Life Sciences)
About This Section
|
 | |
 |
| | | |
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 |  |  |  | |
| |  | Search Tocris compounds for UTRN |
| |  |  |  |  | | | | |
 | | | ELISAs and CLIAs for UTRN |
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