desmb desmin b [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: desmbprovided by ZNC
Official Full Name: desmin bprovided by ZNC
Primary source: ZFIN:ZDB-GENE-061027-102
See related: Ensembl:ENSDARG00000005221 AllianceGenome:ZFIN:ZDB-GENE-061027-102
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: wu:fc11d08; zgc:154009
Summary: Acts upstream of or within locomotory behavior; muscle contraction; and skeletal muscle organ development. Predicted to be located in intermediate filament. Predicted to be active in Z disc; cell-cell junction; and sarcolemma. Is expressed in cardiovascular system; intestine; musculature system; and somite. 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, Dec 2024]
Orthologs: all
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Genomic context

Location:: chromosome: 6

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	6	NC_007117.7 (13871641..13891733, complement)
105	previous assembly	GRCz10 (GCF_000002035.5)	6	NC_007117.6 (13742204..13762270, complement)

Chromosome 6 - NC_007117.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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 intermediate filaments are required for normal active force generation.
Title: Knockdown of desmin in zebrafish larvae affects interfilament spacing and mechanical properties of skeletal muscle.

Submit: New GeneRIF Correction

General gene information

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Markers

fc11d08.x1 (e-PCR)
- UniSTS:192515

fc11d08.x1 (e-PCR)
- UniSTS:192516

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

Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables structural constituent of cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in intermediate filament organization	IBA Inferred from Biological aspect of Ancestor more info
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
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

Component	Evidence Code	Pubs
is_active_in Z disc	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cell-cell junction	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
is_active_in intermediate filament	IBA Inferred from Biological aspect of Ancestor more info
located_in intermediate filament	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 b

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_001077452.1 → NP_001070920.1 desmin b

See identical proteins and their annotated locations for NP_001070920.1

Status: PROVISIONAL

Source sequence(s)

BC124512

UniProtKB/TrEMBL

Q05AI8

Related

ENSDARP00000065355.4, ENSDART00000065356.6

Conserved Domains (2) summary

pfam00038
Location:109 → 417

Filament; Intermediate filament protein

pfam04732
Location:15 → 108

Filament_head; Intermediate filament head (DNA binding) region

RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

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

Reference GRCz11 Primary Assembly

Genomic

NC_007117.7 Reference GRCz11 Primary Assembly

Range

13871641..13891733 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_021476935.2 → XP_021332610.1 desmin b isoform X1

UniProtKB/TrEMBL

A0A8M9QFJ6

Conserved Domains (2) summary

pfam00038
Location:108 → 416

Filament; Intermediate filament protein

pfam04732
Location:13 → 107

Filament_head; Intermediate filament head (DNA binding) region