• Gene id: 131377

Gene Summary

• Gene Symbol: KLHL40   Gene   UCSC   Ensembl
• Aliases: KBTBD5, NEM8, SRYP, SYRP
• Gene name: kelch like family member 40
• Alternate names: kelch-like protein 40, kelch repeat and BTB (POZ) domain containing 5, kelch repeat and BTB domain-containing protein 5, nemaline myopathy type 8, sarcosynapsin,
• Gene location: 3p22.1 (42685536: 42692543)     Exons: 6     NC_000003.12
• Gene summary(Entrez): This gene encodes a protein containing a BACK domain, a BTB/POZ domain, and 5 Kelch repeats, however, its exact function is not known. The gene and the multi-domain protein structure are conserved across different taxa, including primates, rodents, chicke
• OMIM: 609818

Protein Summary

• Protein general information: Q2TBA0  
  • Name: Kelch like protein 40 (Kelch repeat and BTB domain containing protein 5) (Sarcosynapsin)
  • Length: 621  
  • Mass: 69257
  • Tissue specificity: Highly expressed in fetal (19, 23 and 31 weeks of gestation) and adult skeletal muscle; expression levels tend to be higher in fetal compared to postnatal muscles (at protein level). Also expressed in fetal and adult heart. {ECO
• Sequence:

  MALGLEQAEEQRLYQQTLLQDGLKDMLDHGKFLDCVVRAGEREFPCHRLVLAACSPYFRARFLAEPERAGELHLE
  EVSPDVVAQVLHYLYTSEIALDEASVQDLFAAAHRFQIPSIFTICVSFLQKRLCLSNCLAVFRLGLLLDCARLAV
  AARDFICAHFTLVARDADFLGLSADELIAIISSDGLNVEKEEAVFEAVMRWAGSGDAEAQAERQRALPTVFESVR
  CRLLPRAFLESRVERHPLVRAQPELLRKVQMVKDAHEGRITTLRKKKKGKDGAGAKEADKGTSKAKAEEDEEAER
  ILPGILNDTLRFGMFLQDLIFMISEEGAVAYDPAANECYCASLSNQVPKNHVSLVTKENQVFVAGGLFYNEDNKE
  DPMSAYFLQFDHLDSEWLGMPPLPSPRCLFGLGEALNSIYVVGGREIKDGERCLDSVMCYDRLSFKWGESDPLPY
  VVYGHTVLSHMDLVYVIGGKGSDRKCLNKMCVYDPKKFEWKELAPMQTARSLFGATVHDGRIIVAAGVTDTGLTS
  SAEVYSITDNKWAPFEAFPQERSSLSLVSLVGTLYAIGGFATLETESGELVPTELNDIWRYNEEEKKWEGVLREI
  AYAAGATFLPVRLNVLCLTKM

• Structural information:
  • Protein Domains: (33..9-)
    (/note="BTB-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00037-)
    (133..23-)
    (/note="BACK"-)
  • Interpro: IPR011705  IPR017096  IPR000210  IPR015915  IPR006652   IPR030607  IPR011333  
  • Prosite: PS50097
  • PDB: 4ASC
  • PDBsum: 4ASC
  • STRING: ENSP00000287777
• Other Databases: GeneCards:  KLHL40  Malacards:  KLHL40

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031397	negative regulation of protein ubiquitination	IBA	biological process
GO:0031674	I band	IBA	cellular component
GO:0032435	negative regulation of proteasomal ubiquitin-dependent protein catabolic process	IBA	biological process
GO:0048741	skeletal muscle fiber development	IBA	biological process
GO:0031672	A band	IBA	cellular component
GO:0031463	Cul3-RING ubiquitin ligase complex	ISS	cellular component
GO:0098528	skeletal muscle fiber differentiation	ISS	biological process
GO:0048741	skeletal muscle fiber development	ISS	biological process
GO:0032436	positive regulation of proteasomal ubiquitin-dependent protein catabolic process	ISS	biological process
GO:0005737	cytoplasm	ISS	cellular component
GO:0031398	positive regulation of protein ubiquitination	ISS	biological process
GO:0031397	negative regulation of protein ubiquitination	IEA	biological process
GO:0048741	skeletal muscle fiber development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0007275	multicellular organism development	IEA	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:0031674	I band	IEA	cellular component
GO:0031672	A band	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
Nemaline myopathy	KEGG:H00698
Nemaline myopathy	KEGG:H00698
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881