Klhl40 kelch-like 40 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Klhl40provided by MGI
Official Full Name: kelch-like 40provided by MGI
Primary source: MGI:MGI:1919580
See related: Ensembl:ENSMUSG00000074001 AllianceGenome:MGI:1919580
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: Kbtbd5; 2310024D23Rik
Summary: Predicted to enable ubiquitin-like ligase-substrate adaptor activity. Involved in myotube differentiation and positive regulation of protein metabolic process. Acts upstream of or within negative regulation of proteasomal ubiquitin-dependent protein catabolic process and negative regulation of protein ubiquitination. Located in A band and I band. Part of Cul3-RING ubiquitin ligase complex. Is expressed in several structures, including diaphragm; genitourinary system; limb segment; musculature; and paraxial mesenchyme. Used to study nemaline myopathy 8. Human ortholog(s) of this gene implicated in nemaline myopathy 8. Orthologous to human KLHL40 (kelch like family member 40). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in mammary gland adult (RPKM 4.8), heart adult (RPKM 3.3) and 7 other tissues See more
Orthologs: human all
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Genomic context

Location:: 9 F4; 9 72.61 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	9	NC_000075.7 (121606673..121612885)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	9	NC_000075.6 (121777499..121791200)

Chromosome 9 - NC_000075.7 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: 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?

Kbtbd5 regulates skeletal muscle myogenesis through the regulation of E2F1-DP1 activity
Title: Kelch Repeat and BTB Domain Containing Protein 5 (Kbtbd5) Regulates Skeletal Muscle Myogenesis through the E2F1-DP1 Complex.
NEB and LMOD3 were reduced in skeletal muscle of Klhl40-/- mice, providing a potential basis for the development of experimental nemaline myopathy.
Title: KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy.
we have demonstrated that Kbtbd5 is the direct downstream target gene of the Myod family and regulates myogenic differentiation.
Title: Kbtbd5 is regulated by MyoD and restricted to the myogenic lineage.

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Variation

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Alleles

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

Endonuclease-mediated (3)
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin-like ligase-substrate adaptor activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in negative regulation of proteasomal ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within negative regulation of proteasomal ubiquitin-dependent protein catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of protein ubiquitination	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within negative regulation of protein ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of proteasome-mediated ubiquitin-dependent protein catabolic process	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of protein ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in skeletal muscle fiber development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within skeletal muscle fiber development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in skeletal muscle fiber development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within skeletal muscle fiber differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in skeletal muscle fiber differentiation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in A band	IBA Inferred from Biological aspect of Ancestor more info
located_in A band	IDA Inferred from Direct Assay more info	PubMed
part_of Cul3-RING ubiquitin ligase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of Cul3-RING ubiquitin ligase complex	IDA Inferred from Direct Assay more info	PubMed
is_active_in I band	IBA Inferred from Biological aspect of Ancestor more info
located_in I 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

General protein information

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Preferred Names: kelch-like protein 40

Names: kelch repeat and BTB (POZ) domain containing 5; kelch repeat and BTB domain-containing protein 5

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_028202.3 → NP_082478.1 kelch-like protein 40

See identical proteins and their annotated locations for NP_082478.1

Status: VALIDATED

Source sequence(s)

AK160799, BC125576

Consensus CDS

CCDS23637.1

UniProtKB/Swiss-Prot

B9EHG6, Q059P8, Q3TUF0, Q9D783

UniProtKB/TrEMBL

A0A0R4J166

Related

ENSMUSP00000095873.3, ENSMUST00000098272.4

Conserved Domains (6) summary

smart00612
Location:463 → 510

Kelch; Kelch domain

PHA03098
Location:47 → 594

PHA03098; kelch-like protein; Provisional

sd00038
Location:402 → 448

Kelch; KELCH repeat [structural motif]

pfam00651
Location:23 → 125

BTB; BTB/POZ domain

pfam01344
Location:499 → 538

Kelch_1; Kelch motif

pfam07707
Location:133 → 239

BACK; BTB And C-terminal Kelch