desma desmin a [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: desmaprovided by ZNC
Official Full Name: desmin aprovided by ZNC
Primary source: ZFIN:ZDB-GENE-980526-221
See related: Ensembl:ENSDARG00000058656 AllianceGenome:ZFIN:ZDB-GENE-980526-221
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: des; desm; cb290; wu:fb59a12; zgc:109859
Summary: Acts upstream of or within several processes, including heart contraction; regulation of cardiac muscle contraction by calcium ion signaling; and sarcomere organization. Located in Z disc. Is expressed in several structures, including cardiovascular system; hindbrain neural plate; mesoderm; musculature system; and pectoral fin. Used to study myofibrillar myopathy 1. 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]
Orthologs: all
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Genomic context

Location:: chromosome: 9

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
106	current	GRCz11 (GCF_000002035.6)	9	NC_007120.7 (7515864..7539326, complement)
105	previous assembly	GRCz10 (GCF_000002035.5)	9	NC_007120.6 (7537473..7560935, complement)

Chromosome 9 - NC_007120.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Knockout of zebrafish desmin genes does not cause skeletal muscle degeneration but alters calcium flux.
Title: Knockout of zebrafish desmin genes does not cause skeletal muscle degeneration but alters calcium flux.
Desmin distribution during muscle maturation changes from dispersed aggregates to a perinuclear concentration to striated afterwards.
Title: Some distinctive features of zebrafish myogenesis based on unexpected distributions of the muscle cytoskeletal proteins actin, myosin, desmin, alpha-actinin, troponin and titin.

Submit: New GeneRIF Correction

General gene information

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Markers

fb59a12 (e-PCR)
- UniSTS:187257

desm (e-PCR), detects polymorphism
- UniSTS:204724

fc50g08.x1 (e-PCR)
- UniSTS:194031

Gene Ontology Provided by ZFIN

Process	Evidence Code	Pubs
acts_upstream_of_or_within heart contraction	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within locomotory behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within muscle contraction	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within myofibril assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of calcium ion transport into cytosol	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of cardiac muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of cardiac muscle contraction by calcium ion signaling	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within sarcomere organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in skeletal muscle organ development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within skeletal muscle organ development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within skeletal muscle tissue development	IMP Inferred from Mutant Phenotype more info	PubMed

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
is_active_in cell-cell junction	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in intermediate filament	IEA Inferred from Electronic Annotation more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
is_active_in sarcolemma	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: desmin a

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_001328376.1 → NP_001315305.1 desmin a isoform 2

Status: VALIDATED

Source sequence(s)

CU861474, EH433465, EH459468, EH579828

UniProtKB/TrEMBL

A0A8M1PA74, F1R8W3

Related

ENSDARP00000075994.4, ENSDART00000081553.5

Conserved Domains (3) summary

pfam00038
Location:101 → 409

Filament; Intermediate filament protein

pfam04732
Location:15 → 100

Filament_head; Intermediate filament head (DNA binding) region

pfam08641
Location:118 → 204

Mis14; Kinetochore protein Mis14 like
NM_130963.2 → NP_571038.2 desmin a isoform 1

Status: VALIDATED

Source sequence(s)

CU861474, EH433465, EH459468, EH579828

UniProtKB/TrEMBL

A0A8N7UZE8, F1R8W4

Related

ENSDARP00000075991.4, ENSDART00000081550.6