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UTRN utrophin [ Homo sapiens (human) ]

Gene ID: 7402, updated on 5-Aug-2022

Summary

Official Symbol
UTRNprovided by HGNC
Official Full Name
utrophinprovided by HGNC
Primary source
HGNC:HGNC:12635
See related
Ensembl:ENSG00000152818 MIM:128240; AllianceGenome:HGNC:12635
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DRP; DMDL; DRP1
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]
Expression
Ubiquitous expression in thyroid (RPKM 15.3), fat (RPKM 15.0) and 25 other tissues See more
Orthologs
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Genomic context

See UTRN in Genome Data Viewer
Location:
6q24.2
Exon count:
76
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (144285335..144853034)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (145477963..146045651)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (144606471..145174170)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 5218 Neighboring gene tRNA-Leu (anticodon TAA) 1-1 Neighboring gene uncharacterized LOC124901418 Neighboring gene Sharpr-MPRA regulatory region 1397 Neighboring gene Sharpr-MPRA regulatory region 7657 Neighboring gene rhomboid domain containing 1 pseudogene Neighboring gene small nucleolar RNA, H/ACA box 98 Neighboring gene Sharpr-MPRA regulatory region 2668 Neighboring gene Sharpr-MPRA regulatory region 10150 Neighboring gene Sharpr-MPRA regulatory region 9645 Neighboring gene Sharpr-MPRA regulatory region 14510 Neighboring gene tRNA-Gln (anticodon TTG) 4-1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ23678

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables actin binding IDA
Inferred from Direct Assay
more info
PubMed 
enables actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables integrin binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables vinculin binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in actin cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in muscle contraction TAS
Traceable Author Statement
more info
PubMed 
involved_in muscle organ development TAS
Traceable Author Statement
more info
PubMed 
involved_in positive regulation of cell-matrix adhesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of sodium ion transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
Component Evidence Code Pubs
located_in anchoring junction IEA
Inferred from Electronic Annotation
more info
 
is_active_in cell junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in cell projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
colocalizes_with contractile ring IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in cortical actin cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoskeleton TAS
Traceable Author Statement
more info
PubMed 
part_of dystrophin-associated glycoprotein complex IEA
Inferred from Electronic Annotation
more info
 
located_in extracellular exosome HDA PubMed 
located_in filopodium IDA
Inferred from Direct Assay
more info
PubMed 
located_in filopodium membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in membrane TAS
Traceable Author Statement
more info
PubMed 
located_in neuromuscular junction IEA
Inferred from Electronic Annotation
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 
located_in postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
part_of protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in sarcolemma IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
utrophin
Names
dystrophin-related protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_042293.1 RefSeqGene

    Range
    5001..566298
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001375323.1NP_001362252.1  utrophin isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL357149, AL513184, AL513475
    Related
    ENSP00000356496.4, ENST00000367526.8
    Conserved Domains (4) summary
    cd00176
    Location:44245
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    cd00201
    Location:372400
    WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
    cd02334
    Location:623671
    ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
    cd16247
    Location:437598
    EFh_UTRO; EF-hand-like motif found in utrophin
  2. NM_007124.3NP_009055.2  utrophin isoform 1

    See identical proteins and their annotated locations for NP_009055.2

    Status: REVIEWED

    Source sequence(s)
    AL024474, AL357149, AL513184, AL513475, AL590488, AL590704
    Consensus CDS
    CCDS34547.1
    UniProtKB/Swiss-Prot
    P46939, Q9UJ40
    UniProtKB/TrEMBL
    Q6LBS5
    Related
    ENSP00000356515.3, ENST00000367545.8
    Conserved Domains (7) summary
    COG1196
    Location:10351835
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    COG5069
    Location:32269
    SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
    cd00176
    Location:310528
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    cd00201
    Location:28172845
    WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
    cd02334
    Location:30683116
    ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
    cd16247
    Location:28823043
    EFh_UTRO; EF-hand-like motif found in utrophin
    cl02488
    Location:530646
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    144285335..144853034
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    145477963..146045651
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)