InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: UTRN

Summary

InnateDB Gene

IDBG-97437.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

UTRN

Gene Name

utrophin

Synonyms

DMDL; DRP; DRP1

Species

Homo sapiens

Ensembl Gene

ENSG00000152818

Encoded Proteins

IDBP-97439

utrophin

IDBP-97447

utrophin

IDBP-97449

utrophin

IDBP-97451

utrophin

IDBP-387651

utrophin

IDBP-387659

utrophin

IDBP-387661

utrophin

IDBP-387662

utrophin

IDBP-387663

utrophin

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 6:144285701-144853034

Strand

Forward strand

Band

q24.2

Transcripts

ENST00000367545	ENSP00000356515
ENST00000367526	ENSP00000356496
ENST00000367525	ENSP00000356495
ENST00000367524	ENSP00000356494
ENST00000433557	ENSP00000390879
ENST00000421035	ENSP00000396276
ENST00000417142	ENSP00000404205
ENST00000432686	ENSP00000398923
ENST00000455022	ENSP00000387927
ENST00000480333
ENST00000465299
ENST00000460618

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 47 experimentally validated interaction(s) in this database.
They are also associated with 7 interaction(s) predicted by orthology.

Experimentally validated
Total	47 [view]
Protein-Protein	47 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	7 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003779	actin binding
GO:0005178	integrin binding
GO:0005509	calcium ion binding
GO:0005515	protein binding
GO:0008270	zinc ion binding
GO:0017166	vinculin binding
GO:0019901	protein kinase binding

Biological Process

GO:0001954	positive regulation of cell-matrix adhesion
GO:0006936	muscle contraction
GO:0007517	muscle organ development
GO:2000649	regulation of sodium ion transmembrane transporter activity

Cellular Component

GO:0005634	nucleus
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:0031527	filopodium membrane
GO:0031594	neuromuscular junction
GO:0043234	protein complex
GO:0045202	synapse
GO:0045211	postsynaptic membrane
GO:0070062	extracellular vesicular exosome
GO:0070938	contractile ring

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000019820

View Gene Order

ENSBTAG00000009665

Not yet available

Pathways

NETPATH

REACTOME

KEGG

INOH

PID NCI

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Hs.133135 Hs.707754

RefSeq

NM_007124 XM_005267127 XM_005267128 XM_005267130 XM_005267133 XM_006715559

HUGO

OMIM

CCDS

CCDS34547

HPRD

00547

IMGT

EMBL

GenPept

RNA Seq Atlas