Klhl41 kelch-like 41 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Klhl41provided by MGI
Official Full Name: kelch-like 41provided by MGI
Primary source: MGI:MGI:2683854
See related: Ensembl:ENSMUSG00000075307 AllianceGenome:MGI:2683854
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Gm112; Kbtbd10; SARCOSIN
Summary: Predicted to enable ubiquitin-like ligase-substrate adaptor activity. Involved in several processes, including regulation of myoblast differentiation; regulation of myoblast proliferation; and skeletal muscle cell differentiation. Acts upstream of or within regulation of skeletal muscle cell differentiation. Located in M band; cytoskeleton; and sarcoplasmic reticulum membrane. Is expressed in aorta; heart; musculature; and somite. Used to study nemaline myopathy. Human ortholog(s) of this gene implicated in nemaline myopathy 9. Orthologous to human KLHL41 (kelch like family member 41). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in heart adult (RPKM 9.8), mammary gland adult (RPKM 7.3) and 6 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 C2; 2 40.92 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (69500464..69514583)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (69670120..69684239)

Chromosome 2 - NC_000068.8 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Dysregulation of NRAP degradation by KLHL41 contributes to pathophysiology in nemaline myopathy.
Title: Dysregulation of NRAP degradation by KLHL41 contributes to pathophysiology in nemaline myopathy.
Loss of KLHL41 leads to nemaline myopathy.
Title: KLHL41 stabilizes skeletal muscle sarcomeres by nonproteolytic ubiquitination.
Data show that Sarcosin (Krp1) mRNA is expressed in the myotome part of the mature somites in mouse embryos from embryonic day 9.5 onwards.
Title: Sarcosin (Krp1) in skeletal muscle differentiation: gene expression profiling and knockdown experiments.
Krp1 promotes lateral fusion of adjacent thin fibrils into mature, wide myofibrils and contribute insight into mechanisms of myofibrillogenesis and disassembly
Title: Krp1 (Sarcosin) promotes lateral fusion of myofibril assembly intermediates in cultured mouse cardiomyocytes.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Klhl41 (e-PCR), detects polymorphism
- UniSTS:548022

Klhl41 (e-PCR), detects polymorphism
- UniSTS:548023

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ubiquitin-like ligase-substrate adaptor activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in myofibril assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein ubiquitination	IEA Inferred from Electronic Annotation more info
involved_in protein ubiquitination	ISO Inferred from Sequence Orthology more info
involved_in pseudopodium assembly	IEA Inferred from Electronic Annotation more info
involved_in pseudopodium assembly	ISO Inferred from Sequence Orthology more info
involved_in regulation of myoblast differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of myoblast differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of myoblast proliferation	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of myoblast proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of skeletal muscle cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within regulation of skeletal muscle cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in skeletal muscle cell differentiation	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of Cul3-RING ubiquitin ligase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of Cul3-RING ubiquitin ligase complex	IEA Inferred from Electronic Annotation more info
part_of Cul3-RING ubiquitin ligase complex	ISO Inferred from Sequence Orthology more info
is_active_in M band	IBA Inferred from Biological aspect of Ancestor more info
located_in M band	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
is_active_in cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in pseudopodium	IEA Inferred from Electronic Annotation more info
located_in pseudopodium	ISO Inferred from Sequence Orthology more info
located_in ruffle	IEA Inferred from Electronic Annotation more info
is_active_in sarcoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in sarcoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in sarcoplasmic reticulum membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: kelch-like protein 41

Names: kelch repeat and BTB (POZ) domain containing 10; kelch repeat and BTB domain-containing protein 10

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_001081087.1 → NP_001074556.1 kelch-like protein 41

See identical proteins and their annotated locations for NP_001074556.1

Status: VALIDATED

Source sequence(s)

AL929083

Consensus CDS

CCDS38136.1

UniProtKB/Swiss-Prot

A2AUC9, B2RWT7

Related

ENSMUSP00000097627.4, ENSMUST00000100050.4

Conserved Domains (3) summary

PHA03098
Location:39 → 578

PHA03098; kelch-like protein; Provisional

sd00038
Location:388 → 433

Kelch; KELCH repeat [structural motif]

cd18341
Location:6 → 135

BTB_POZ_KLHL41_KBTBD10; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch-like protein 41 (KLHL41)