• Gene id: 54511

Gene Summary

• Gene Symbol: HMGCLL1   Gene   UCSC   Ensembl
• Aliases: bA418P12.1, er-cHL
• Gene name: 3-hydroxymethyl-3-methylglutaryl-CoA lyase like 1
• Alternate names: 3-hydroxymethyl-3-methylglutaryl-CoA lyase, cytoplasmic, 3-hydroxy-3-methylglutaryl-CoA lyase-like protein 1, 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like protein 1, 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase-like 1, endoplasmic reticulum 3-hydroxy-,
• Gene location: 6p12.1 (55607572: 55434372)     Exons: 14     NC_000006.12

Protein Summary

• Protein general information: Q8TB92  
  • Name: 3 hydroxy 3 methylglutaryl CoA lyase, cytoplasmic (EC 4.1.3.4) (3 hydroxy 3 methylglutaryl CoA lyase like protein 1) (Endoplasmic reticulum 3 hydroxy 3 methylglutaryl CoA lyase) (er cHL)
  • Length: 370  
  • Mass: 39514
• Sequence:

  MGNVPSAVKHCLSYQQLLREHLWIGDSVAGALDPAQTSLLTNLHCFQPDVSGFSVSLAGTVACIHWETSQLSGLP
  EFVKIVEVGPRDGLQNEKVIVPTDIKIEFINRLSQTGLSVIEVTSFVSSRWVPQMADHTEVMKGIHQYPGVRYPV
  LTPNLQGFHHAVAAGATEISVFGAASESFSKKNINCSIEESMGKFEEVVKSARHMNIPARGYVSCALGCPYEGSI
  TPQKVTEVSKRLYGMGCYEISLGDTIGVGTPGSMKRMLESVMKEIPPGALAVHCHDTYGQALANILTALQMGINV
  VDSAVSGLGGCPYAKGASGNVATEDLIYMLNGLGLNTGVNLYKVMEAGDFICKAVNKTTNSKVAQASFNA

• Structural information:
  • Protein Domains: (78..34-)
    (/note="Pyruvate-carboxyltransferase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01151"-)
  • Interpro: IPR013785  IPR030021  IPR000891  
  • Prosite: PS50991
  • STRING: ENSP00000381654
• Other Databases: GeneCards:  HMGCLL1  Malacards:  HMGCLL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006629	lipid metabolic process	IBA	biological process
GO:0004419	hydroxymethylglutaryl-CoA lyase activity	IBA	molecular function
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0005829	cytosol	IBA	cellular component
GO:0006552	leucine catabolic process	IBA	biological process
GO:0046951	ketone body biosynthetic process	IBA	biological process
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0046951	ketone body biosynthetic process	IDA	biological process
GO:0046951	ketone body biosynthetic process	IDA	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0004419	hydroxymethylglutaryl-CoA lyase activity	IDA	molecular function
GO:0004419	hydroxymethylglutaryl-CoA lyase activity	IDA	molecular function
GO:0016020	membrane	IDA	cellular component
GO:0046872	metal ion binding	TAS	molecular function
GO:0046872	metal ion binding	ISS	molecular function
GO:0004419	hydroxymethylglutaryl-CoA lyase activity	ISS	molecular function
GO:0004419	hydroxymethylglutaryl-CoA lyase activity	IEA	molecular function
GO:0046951	ketone body biosynthetic process	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016829	lyase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0004419	hydroxymethylglutaryl-CoA lyase activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0046951	ketone body biosynthetic process	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04146	Peroxisome
hsa00280	Valine, leucine and isoleucine degradation
hsa00650	Butanoate metabolism
hsa00072	Synthesis and degradation of ketone bodies

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R