• Gene id: 3141

Gene Summary

• Gene Symbol: HLCS   Gene   UCSC   Ensembl
• Aliases: HCS
• Gene name: holocarboxylase synthetase
• Alternate names: biotin--protein ligase, biotin apo-protein ligase, biotin--[acetyl-CoA-carboxylase] ligase, biotin--[methylcrotonoyl-CoA-carboxylase] ligase, biotin--[methylmalonyl-CoA-carboxytransferase] ligase, holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase ,
• Gene location: 21q22.13 (36990254: 36748624)     Exons: 20     NC_000021.9
• Gene summary(Entrez): This gene encodes an enzyme that catalyzes the binding of biotin to carboxylases and histones. The protein plays an important role in gluconeogenesis, fatty acid synthesis and branched chain amino acid catabolism. Defects in this gene are the cause of hol
• OMIM: 142970

Protein Summary

• Protein general information: P50747  
  • Name: Biotin protein ligase (EC 6.3.4. ) (Biotin apo protein ligase) [Includes: Biotin [methylmalonyl CoA carboxytransferase] ligase (EC 6.3.4.9); Biotin [propionyl CoA carboxylase [ATP hydrolyzing]] ligase (EC 6.3.4.10) (Holocarboxylase synthetase) (HCS); B
  • Length: 726  
  • Mass: 80760
  • Tissue specificity: Widely expressed (PubMed
• Sequence:

  MEDRLHMDNGLVPQKIVSVHLQDSTLKEVKDQVSNKQAQILEPKPEPSLEIKPEQDGMEHVGRDDPKALGEEPKQ
  RRGSASGSEPAGDSDRGGGPVEHYHLHLSSCHECLELENSTIESVKFASAENIPDLPYDYSSSLESVADETSPER
  EGRRVNLTGKAPNILLYVGSDSQEALGRFHEVRSVLADCVDIDSYILYHLLEDSALRDPWTDNCLLLVIATRESI
  PEDLYQKFMAYLSQGGKVLGLSSSFTFGGFQVTSKGALHKTVQNLVFSKADQSEVKLSVLSSGCRYQEGPVRLSP
  GRLQGHLENEDKDRMIVHVPFGTRGGEAVLCQVHLELPPSSNIVQTPEDFNLLKSSNFRRYEVLREILTTLGLSC
  DMKQVPALTPLYLLSAAEEIRDPLMQWLGKHVDSEGEIKSGQLSLRFVSSYVSEVEITPSCIPVVTNMEAFSSEH
  FNLEIYRQNLQTKQLGKVILFAEVTPTTMRLLDGLMFQTPQEMGLIVIAARQTEGKGRGGNVWLSPVGCALSTLL
  ISIPLRSQLGQRIPFVQHLMSVAVVEAVRSIPEYQDINLRVKWPNDIYYSDLMKIGGVLVNSTLMGETFYILIGC
  GFNVTNSNPTICINDLITEYNKQHKAELKPLRADYLIARVVTVLEKLIKEFQDKGPNSVLPLYYRYWVHSGQQVH
  LGSAEGPKVSIVGLDDSGFLQVHQEGGEVVTVHPDGNSFDMLRNLILPKRR

• Structural information:
  • Protein Domains: (463..65-)
    (/note="BPL/LPL-catalytic)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01067"-)
  • Interpro: IPR019197  IPR004408  IPR003142  IPR004143  
  • Prosite: PS51733
  • CDD: cd16442
  • STRING: ENSP00000382071
• Other Databases: GeneCards:  HLCS  Malacards:  HLCS

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004077	biotin-[acetyl-CoA-carboxylase] ligase activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0009305	protein biotinylation	IBA	biological process
GO:0071110	histone biotinylation	IBA	biological process
GO:0004077	biotin-[acetyl-CoA-carboxylase] ligase activity	IEA	molecular function
GO:0006464	cellular protein modification process	IEA	biological process
GO:0008152	metabolic process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0016874	ligase activity	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0003824	catalytic activity	IEA	molecular function
GO:0004078	biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity	IEA	molecular function
GO:0004080	biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity	IEA	molecular function
GO:0004077	biotin-[acetyl-CoA-carboxylase] ligase activity	IEA	molecular function
GO:0004079	biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006768	biotin metabolic process	TAS	biological process
GO:0018271	biotin-protein ligase activity	TAS	molecular function
GO:0018271	biotin-protein ligase activity	TAS	molecular function
GO:0018271	biotin-protein ligase activity	TAS	molecular function
GO:0018271	biotin-protein ligase activity	TAS	molecular function
GO:0018271	biotin-protein ligase activity	TAS	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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004080	biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity	IEA	molecular function
GO:0070781	response to biotin	IEA	biological process
GO:0042802	identical protein binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0018271	biotin-protein ligase activity	IDA	molecular function
GO:0009374	biotin binding	IDA	molecular function
GO:0005829	cytosol	IDA	cellular component
GO:0070781	response to biotin	IDA	biological process
GO:0009305	protein biotinylation	IDA	biological process
GO:0005652	nuclear lamina	IDA	cellular component
GO:0000785	chromatin	IDA	cellular component
GO:0071110	histone biotinylation	IDA	biological process
GO:0016570	histone modification	IDA	biological process
GO:0016363	nuclear matrix	IDA	cellular component
GO:0004080	biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity	IDA	molecular function
GO:0018271	biotin-protein ligase activity	IMP	molecular function
GO:0005829	cytosol	HDA	cellular component
GO:0019899	enzyme binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00780	Biotin metabolism

Diseases

Associated diseases	References
Holocarboxylase synthetase deficiency	KEGG:H00180
Holocarboxylase synthetase deficiency	KEGG:H00180
Holocarboxylase synthetase deficiency	PMID:12124727
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq