Des desmin [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Desprovided by RGD
Official Full Name: desminprovided by RGD
Primary source: RGD:620686
See related: Ensembl:ENSRNOG00000019810 AllianceGenome:RGD:620686
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Summary: Predicted to enable cytoskeletal protein binding activity and identical protein binding activity. Predicted to be involved in intermediate filament organization. Located in Z disc; gap junction; and type III intermediate filament. Human ortholog(s) of this gene implicated in intrinsic cardiomyopathy (multiple) and myopathy (multiple). Orthologous to human DES (desmin). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in Muscle (RPKM 8191.8), Heart (RPKM 4982.5) and 2 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 9q33

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	9	NC_086027.1 (84299626..84307344)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	9	NC_051344.1 (76850979..76858695)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	9	NC_005108.4 (82556574..82564288)

Chromosome 9 - NC_086027.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Differential expression of desmin in the uterine myometrium and cervix as a possible mechanism for successful parturition in rats.
Title: Differential expression of desmin in the uterine myometrium and cervix as a possible mechanism for successful parturition in rats.
Micro-RNA-338-3p Promotes the Development of Atherosclerosis by Targeting Desmin and Promoting Proliferation.
Title: Micro-RNA-338-3p Promotes the Development of Atherosclerosis by Targeting Desmin and Promoting Proliferation.
A mutation in desmin makes skeletal muscle less vulnerable to acute muscle damage after eccentric loading in rats.
Title: A mutation in desmin makes skeletal muscle less vulnerable to acute muscle damage after eccentric loading in rats.
Desmin participates in the mechanoelectric feedback in heart failure through the NF-kappaB pathway.
Title: The role of desmin alterations in mechanical electrical feedback in heart failure.
Aberrant mitochondrial fission results in mitochondrial respiratory defects and apoptotic cell death in D7-Des Tg hearts. Inhibition of aberrant mitochondrial fission using mitochondrial division inhibitor significantly preserved mitochondrial function and decreased apoptotic cell death
Title: Aberrant Mitochondrial Fission Is Maladaptive in Desmin Mutation-Induced Cardiac Proteotoxicity.
Ser31 phosphorylated desmin aggregates extensively in cultured cardiomyocytes. Ser31 phosphorylated desmin is a likely candidate seed for the nucleation process leading to cardiac preamyloid oligomer deposition.
Title: Desmin Phosphorylation Triggers Preamyloid Oligomers Formation and Myocyte Dysfunction in Acquired Heart Failure.
This study provides new evidence of early onset (24 h) and continuous (4-12 wk) desmin misarrangement and disruption of the normal sarcomeric and mitochondrial architecture throughout the progression of volume overload heart failure, suggesting a causal link between desmin cleavage and mitochondrial disorganization and damage.
Title: Desmin loss and mitochondrial damage precede left ventricular systolic failure in volume overload heart failure.
Data indicte that desmin and h1-calponin are expressed in mesenchymal stem cells (MSC).
Title: Differentiated markers in undifferentiated cells: expression of smooth muscle contractile proteins in multipotent bone marrow mesenchymal stem cells.
Hypoxia-induced muscle damage is not accompanied by the loss of dystrophin and desmin.
Title: [Changes of dystrophin and desmin in rat gastrocnemius under micro-damage induced by hypoxia].
Desmin and alpha-actinin-2 content in rat soleus muscle in the dynamics of gravitational unloading and subsequent reloading.
Title: Desmin and α-actinin-2 content in rat soleus muscle in the dynamics of gravitational unloading and subsequent reloading.

Submit: New GeneRIF Correction See all GeneRIFs (24)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G67372 (e-PCR)
- UniSTS:186401

Des (e-PCR), detects polymorphism
- UniSTS:463408

stSG632979 (e-PCR)
- UniSTS:460346

D9Mco70 (e-PCR)
- UniSTS:518468

Des (e-PCR), detects polymorphism
- UniSTS:238157

AA964451 (e-PCR)
- UniSTS:248427

PMC209322P1 (e-PCR)
- UniSTS:271986

Vim (e-PCR), detects polymorphism
- UniSTS:507308

Des (e-PCR), detects polymorphism
- UniSTS:142845

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables cytoskeletal protein binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in intermediate filament organization	ISO Inferred from Sequence Orthology more info
involved_in intermediate filament organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in nuclear envelope organization	ISO Inferred from Sequence Orthology more info
involved_in nuclear envelope organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in skeletal muscle organ development	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in Z disc	IBA Inferred from Biological aspect of Ancestor more info
located_in Z disc	IDA Inferred from Direct Assay more info	PubMed
located_in Z disc	IEA Inferred from Electronic Annotation more info
located_in Z disc	ISO Inferred from Sequence Orthology more info
located_in Z disc	ISS Inferred from Sequence or Structural Similarity more info
located_in cardiac myofibril	ISO Inferred from Sequence Orthology more info
located_in cell tip	IEA Inferred from Electronic Annotation more info
located_in cell tip	ISO Inferred from Sequence Orthology more info
located_in cell tip	ISS Inferred from Sequence or Structural Similarity more info
is_active_in cell-cell junction	IBA Inferred from Biological aspect of Ancestor more info
located_in cell-cell junction	ISO Inferred from Sequence Orthology more info
located_in contractile muscle fiber	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoskeleton	ISO Inferred from Sequence Orthology more info
located_in fascia adherens	ISO Inferred from Sequence Orthology more info
located_in gap junction	IDA Inferred from Direct Assay more info	PubMed
located_in intercalated disc	ISO Inferred from Sequence Orthology more info
located_in intercalated disc	ISS Inferred from Sequence or Structural Similarity more info
located_in intermediate filament	IEA Inferred from Electronic Annotation more info
located_in intermediate filament	ISO Inferred from Sequence Orthology more info
located_in intermediate filament cytoskeleton	ISO Inferred from Sequence Orthology more info
located_in neuromuscular junction	ISO Inferred from Sequence Orthology more info
located_in nuclear envelope	IEA Inferred from Electronic Annotation more info
located_in nuclear envelope	ISO Inferred from Sequence Orthology more info
located_in nuclear envelope	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
is_active_in sarcolemma	IBA Inferred from Biological aspect of Ancestor more info
located_in sarcolemma	IEA Inferred from Electronic Annotation more info
located_in sarcolemma	ISO Inferred from Sequence Orthology more info
located_in sarcolemma	ISS Inferred from Sequence or Structural Similarity more info
located_in type III intermediate filament	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: desmin

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.

mRNA and Protein(s)

NM_022531.2 → NP_071976.2 desmin

Status: PROVISIONAL

Source sequence(s)

JAXUCZ010000009

UniProtKB/Swiss-Prot

P48675

UniProtKB/TrEMBL

A6JW26, F7FLT5, Q6P725

Related

ENSRNOP00000026860.3, ENSRNOT00000026860.5

Conserved Domains (2) summary

pfam00038
Location:106 → 414

Filament; Intermediate filament protein

pfam04732
Location:9 → 105

Filament_head; Intermediate filament head (DNA binding) region