• Gene id: 10324

Gene Summary

• Gene Symbol: KLHL41   Gene   UCSC   Ensembl
• Aliases: KBTBD10, Krp1, SARCOSIN
• Gene name: kelch like family member 41
• Alternate names: kelch-like protein 41, kel-like protein 23, kelch repeat and BTB (POZ) domain containing 10, kelch-related protein 1, sarcomeric muscle protein,
• Gene location: 2q31.1 (169509701: 169526257)     Exons: 6     NC_000002.12
• Gene summary(Entrez): This gene is a member of the kelch-like family. The encoded protein contains a BACK domain, a BTB/POZ domain, and 5 Kelch repeats. This protein is thought to function in skeletal muscle development and maintenance. Mutations in this gene have been associa
• OMIM: 607701

Protein Summary

• Protein general information: O60662  
  • Name: Kelch like protein 41 (Kel like protein 23) (Kelch repeat and BTB domain containing protein 10) (Kelch related protein 1) (Sarcosin)
  • Length: 606  
  • Mass: 68037
  • Tissue specificity: Sarcomeric muscle.
• Sequence:

  MDSQRELAEELRLYQSTLLQDGLKDLLDEKKFIDCTLKAGDKSLPCHRLILSACSPYFREYFLSEIDEAKKKEVV
  LDNVDPAILDLIIKYLYSASIDLNDGNVQDIFALASRFQIPSVFTVCVSYLQKRLAPGNCLAILRLGLLLDCPRL
  AISAREFVSDRFVQICKEEDFMQLSPQELISVISNDSLNVEKEEAVFEAVMKWVRTDKENRVKNLSEVFDCIRFR
  LMTEKYFKDHVEKDDIIKSNPDLQKKIKVLKDAFAGKLPEPSKNAAKTGAGEVNGDVGDEDLLPGYLNDIPRHGM
  FVKDLILLVNDTAAVAYDPTENECYLTALAEQIPRNHSSIVTQQNQIYVVGGLYVDEENKDQPLQSYFFQLDSIA
  SEWVGLPPLPSARCLFGLGEVDDKIYVVAGKDLQTEASLDSVLCYDPVAAKWNEVKKLPIKVYGHNVISHKGMIY
  CLGGKTDDKKCTNRVFIFNPKKGDWKDLAPMKIPRSMFGVAVHKGKIVIAGGVTEDGLSASVEAFDLTTNKWDVM
  TEFPQERSSISLVSLAGSLYAIGGFAMIQLESKEFAPTEVNDIWKYEDDKKEWAGMLKEIRYASGASCLATRLNL
  FKLSKL

• Structural information:
  • Protein Domains: (33..10-)
    (/note="BTB-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00037-)
    (135..23-)
    (/note="BACK"-)
  • Interpro: IPR011705  IPR017096  IPR000210  IPR015915  IPR006652   IPR030571  IPR011333  
  • Prosite: PS50097
  • STRING: ENSP00000284669
• Other Databases: GeneCards:  KLHL41  Malacards:  KLHL41

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:2000291	regulation of myoblast proliferation	IBA	biological process
GO:2001014	regulation of skeletal muscle cell differentiation	IBA	biological process
GO:0005856	cytoskeleton	IBA	cellular component
GO:0031430	M band	IBA	cellular component
GO:0033017	sarcoplasmic reticulum membrane	IBA	cellular component
GO:0045661	regulation of myoblast differentiation	IBA	biological process
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component
GO:0033017	sarcoplasmic reticulum membrane	IDA	cellular component
GO:0031463	Cul3-RING ubiquitin ligase complex	IDA	cellular component
GO:0016567	protein ubiquitination	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:2000291	regulation of myoblast proliferation	ISS	biological process
GO:0045661	regulation of myoblast differentiation	ISS	biological process
GO:0035914	skeletal muscle cell differentiation	ISS	biological process
GO:0031430	M band	ISS	cellular component
GO:0031430	M band	ISS	cellular component
GO:0030239	myofibril assembly	ISS	biological process
GO:0005856	cytoskeleton	ISS	cellular component
GO:0048741	skeletal muscle fiber development	IEA	biological process
GO:0035914	skeletal muscle cell differentiation	IEA	biological process
GO:0045214	sarcomere organization	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016529	sarcoplasmic reticulum	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0006941	striated muscle contraction	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0043687	post-translational protein modification	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:2001014	regulation of skeletal muscle cell differentiation	IEA	biological process
GO:2000291	regulation of myoblast proliferation	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0031275	regulation of lateral pseudopodium assembly	IEA	biological process
GO:0031143	pseudopodium	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0045661	regulation of myoblast differentiation	IEA	biological process
GO:0035914	skeletal muscle cell differentiation	IEA	biological process
GO:0033017	sarcoplasmic reticulum membrane	IEA	cellular component
GO:0031430	M band	IEA	cellular component
GO:0030239	myofibril assembly	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0001726	ruffle	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0033017	sarcoplasmic reticulum membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0031143	pseudopodium	IEA	cellular component
GO:0031430	M band	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

Associated diseases	References
Nemaline myopathy	KEGG:H00698
Nemaline myopathy	KEGG:H00698
hypertrophic cardiomyopathy	PMID:11583900
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray