Klhl41 MGI Mouse Gene Detail - MGI:2683854

Symbol

Klhl41
Name

kelch-like 41
Synonyms

Kbtbd10, LOC228003

Feature Type

protein coding gene
IDs

MGI:2683854
NCBI Gene: 228003
Alliance

genome feature page
Transcription Start Sites

4 TSS

Sequence Map

Chr2:69500464-69514574 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 2, 40.92 cM
Mapping Data

1 experiment

SNPs within 2kb

520 from dbSNP Build 142
Strain Annotations

19

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2683854	protein coding gene	Chr2:69500464-69514583 (+)
129S1/SvImJ	ENSMUSG00200036750	protein coding gene	Chr2:66559827-66573939 (+)
A/J	ENSMUSG00195020318	protein coding gene	Chr2:66710795-66724934 (+)
AKR/J	ENSMUSG00220034503	protein coding gene	Chr2:66675678-66689814 (+)
BALB/cJ	ENSMUSG00180036311	protein coding gene	Chr2:66656157-66670173 (+)
C3H/HeJ	ENSMUSG00175035366	protein coding gene	Chr2:66775500-66789518 (+)
C57BL/6NJ	ENSMUSG00215018883	protein coding gene	Chr2:66596238-66610348 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0023623	protein coding gene	Chr2:64195932-64210790 (+)
CAST/EiJ	ENSTCUG00005008517	protein coding gene	Chr2:66075974-66090087 (+)
CBA/J	ENSMUSG00210036799	protein coding gene	Chr2:66815776-66829789 (+)
DBA/2J	ENSMUSG00185038170	protein coding gene	Chr2:66651314-66665326 (+)
FVB/NJ	ENSMUSG00205025509	protein coding gene	Chr2:66125725-66139861 (+)
JF1/MsJ	ENSUMUG00000003517	protein coding gene	Chr2:66315724-66329595 (+)
LP/J	ENSMUSG00230017926	protein coding gene	Chr2:68456795-68470807 (+)
NOD/ShiLtJ	ENSMUSG00190029350	protein coding gene	Chr2:66744235-66758368 (+)
NZO/HlLtJ	ENSMUSG00225014283	protein coding gene	Chr2:76199060-76213072 (+)
PWK/PhJ	ENSLUMG00010030169	protein coding gene	Chr2:66541715-66555571 (+)
SPRET/EiJ	ENSMSPG00010035443	protein coding gene	Chr2:67940470-67954387 (+)
WSB/EiJ	ENSIUOG00005017651	protein coding gene	Chr2:66790017-66803970 (+)

Human Ortholog

KLHL41, kelch like family member 41

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

KLHL41, kelch like family member 41
Synonyms

KBTBD10, Krp1, SARCOSIN
Links

HGNC:16905

NCBI Gene ID: 10324

UniProt: O60662
Chr Location

2q31.1; chr2:169509687-169526262 (+) GRCh38

MGI Vertebrate Homology

Klhl41 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: KLHL41
Protein SuperFamily

Kelch-like_protein_gigaxonin
Gene Tree

Klhl41

Diseases

1 with Klhl41 mouse models; 1 with human KLHL41 associations

Human Disease

Mouse Models

nemaline myopathy

IDs

View 1 model

nemaline myopathy 9

IDs

Click on a disease name to see all genes associated with that disease.

Mutations/Alleles

1 with disease annotations

References

1 with disease annotations

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Phenotype Summary

6 phenotypes from 1 allele in 1 genetic background
7 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

6
Chemically induced (other)

1
Endonuclease-mediated

3
Targeted

2
Genomic Mutations

1 involving Klhl41
Incidental Mutations

APF
Find Mice (IMSR)

16 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

The gene product is involved in stabilizing proteins involved in muscle function. Homozygous knockout affects the structure of muscle fibers and their sarcomeres, resulting in neonatal death.

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All GO Annotations

45
GO References

10

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

654
Tissues

28
cDNA Data

11
Literature Summary

2

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase klhl41

ZFIN klhl41a, klhl41b

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All Sequences

32
RefSeq

2
UniProt

2
CCDS

CCDS38136.1

Ensembl

ENSMUSG00000075307 (Evidence)
NCBI Gene

228003

			Length	Strain/Species	Flank
genomic	ENSMUSG00000075307	Ensembl Gene Model \| MGI Sequence Detail	14111	C57BL/6J	± kb
transcript	ENSMUST00000100050	Ensembl \| MGI Sequence Detail	2529	Not Applicable
polypeptide	ENSMUSP00000097627	Ensembl \| MGI Sequence Detail	606	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000009248 kelch-like protein 41

(term hierarchy)
InterPro Domains

IPR011705 BTB/Kelch-associated

IPR017096 BTB-kelch protein

IPR000210 BTB/POZ domain

IPR030571 Kelch-like protein 41/41b, BTB/POZ domain

IPR052392 Kelch repeat and BTB domain-containing protein

IPR006652 Kelch repeat type 1

IPR015915 Kelch-type beta-propeller

IPR011333 SKP1/BTB/POZ domain superfamily
GlyGen

A2AUC9 1 site, 1 O-linked glycan (1 site)

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All nucleic 21

cDNA 11

Primer pair 8

Other 2

Antibodies 2

Microarray probesets 2

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MGI:2684958

Summaries

All 38

Developmental Gene Expression 2

Diseases 1

Gene Ontology 10

Phenotypes 7
Earliest

J:83790 Lu S, et al., New N-RAP-binding partners alpha-actinin, filamin and Krp1 detected by yeast two-hybrid screening: implications for myofibril assembly. J Cell Sci. 2003 Jun 1;116(Pt 11):2169-78
Latest

J:255305 Ramirez-Martinez A, et al., KLHL41 stabilizes skeletal muscle sarcomeres by nonproteolytic ubiquitination. Elife. 2017 Aug 9;6:e26439

TSS for Klhl41:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr18128	Chr2:69500189-69500201 (+)	-269 bp
Tssr18129	Chr2:69500242-69500257 (+)	-214 bp
Tssr18130	Chr2:69500444-69500478 (+)	-3 bp
Tssr18131	Chr2:69500504-69500511 (+)	44 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 09/08/2026 MGI 6.24