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Aliases for HLCS Gene

Aliases for HLCS Gene

  • Holocarboxylase Synthetase (Biotin-(Proprionyl-CoA-Carboxylase (ATP-Hydrolysing)) Ligase) 2 3
  • Holocarboxylase Synthetase (Biotin-(Proprionyl-Coenzyme A-Carboxylase (ATP-Hydrolysing)) Ligase) 2 3
  • Biotin Apo-Protein Ligase 3 4
  • Holocarboxylase Synthetase (Biotin-[Proprionyl-Coenzyme A-Carboxylase (ATP-Hydrolysing)] Ligase) 2
  • Biotin--[Methylmalonyl-CoA-Carboxytransferase] Ligase 3
  • Biotin--[Methylcrotonoyl-CoA-Carboxylase] Ligase 3
  • Biotin--[Acetyl-CoA-Carboxylase] Ligase 3
  • EC 6.3.4.- 4
  • HCS 3

External Ids for HLCS Gene

Previous GeneCards Identifiers for HLCS Gene

  • GC21M034700
  • GC21M037043
  • GC21M037045
  • GC21M038123
  • GC21M023599

Summaries for HLCS Gene

Entrez Gene Summary for HLCS Gene

  • 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 holocarboxylase synthetase deficiency. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Jun 2011]

GeneCards Summary for HLCS Gene

HLCS (Holocarboxylase Synthetase (Biotin-(Proprionyl-CoA-Carboxylase (ATP-Hydrolysing)) Ligase)) is a Protein Coding gene. Diseases associated with HLCS include holocarboxylase synthetase deficiency and multiple carboxylase deficiency. Among its related pathways are Metabolism and Metabolism of vitamins and cofactors. GO annotations related to this gene include protein homodimerization activity and biotin binding.

UniProtKB/Swiss-Prot for HLCS Gene

  • Post-translational modification of specific protein by attachment of biotin. Acts on various carboxylases such as acetyl-CoA-carboxylase, pyruvate carboxylase, propionyl CoA carboxylase, and 3-methylcrotonyl CoA carboxylase

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HLCS Gene

Genomics for HLCS Gene

Regulatory Elements for HLCS Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for HLCS Gene

Chromosome:
21
Start:
36,750,888 bp from pter
End:
36,990,246 bp from pter
Size:
239,359 bases
Orientation:
Minus strand

Genomic View for HLCS Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HLCS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HLCS Gene

Proteins for HLCS Gene

  • Protein details for HLCS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P50747-BPL1_HUMAN
    Recommended name:
    Biotin--protein ligase
    Protein Accession:
    P50747
    Secondary Accessions:
    • B2RAH1
    • D3DSG6
    • Q99451

    Protein attributes for HLCS Gene

    Size:
    726 amino acids
    Molecular mass:
    80760 Da
    Quaternary structure:
    • Monomer
    SequenceCaution:
    • Sequence=AK307940; Type=Frameshift; Positions=169; Evidence={ECO:0000305};

neXtProt entry for HLCS Gene

Proteomics data for HLCS Gene at MOPED

Post-translational modifications for HLCS Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for HLCS Gene

Domains & Families for HLCS Gene

Suggested Antigen Peptide Sequences for HLCS Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P50747

UniProtKB/Swiss-Prot:

BPL1_HUMAN :
  • Contains 1 BPL/LPL catalytic domain.
  • Belongs to the biotin--protein ligase family.
Domain:
  • Contains 1 BPL/LPL catalytic domain.
Family:
  • Belongs to the biotin--protein ligase family.
genes like me logo Genes that share domains with HLCS: view

No data available for Gene Families for HLCS Gene

Function for HLCS Gene

Molecular function for HLCS Gene

GENATLAS Biochemistry:
holocarboxylase synthetase,80kDa,cytosolic,with two alternatively spliced isoforms,catalyzing the biotinylation of the four biotin-dependent carboxylases,including the mitochondrial pyruvate carboxylase,propionyl-CoA carboxylase,methylcrotonyl-CoA carboxylase and the cytosolic acetyl-CoA carboxylase
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=224 nM for biotin {ECO:0000269 PubMed:10590022}; Vmax=143.9 pmol/min/mg enzyme {ECO:0000269 PubMed:10590022};
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + biotin + apo-[methylmalonyl-CoA:pyruvate carboxytransferase] = AMP + diphosphate + [methylmalonyl-CoA:pyruvate carboxytransferase]
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + biotin + apo-[propionyl-CoA:carbon-dioxide ligase (ADP-forming)] = AMP + diphosphate + [propionyl-CoA:carbon-dioxide ligase (ADP-forming)]
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + biotin + apo-[3-methylcrotonoyl-CoA:carbon-dioxide ligase (ADP-forming)] = AMP + diphosphate + [3-methylcrotonoyl-CoA:carbon-dioxide ligase (ADP-forming)]
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + biotin + apo-[acetyl-CoA:carbon-dioxide ligase (ADP-forming)] = AMP + diphosphate + [acetyl-CoA:carbon-dioxide ligase (ADP-forming)]
UniProtKB/Swiss-Prot Function:
Post-translational modification of specific protein by attachment of biotin. Acts on various carboxylases such as acetyl-CoA-carboxylase, pyruvate carboxylase, propionyl CoA carboxylase, and 3-methylcrotonyl CoA carboxylase

Enzyme Numbers (IUBMB) for HLCS Gene

Gene Ontology (GO) - Molecular Function for HLCS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004077 biotin-[acetyl-CoA-carboxylase] ligase activity IEA --
GO:0004078 biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity IEA --
GO:0004079 biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity IEA --
GO:0004080 biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity IDA 7842009
GO:0005515 protein binding IPI 20085763
genes like me logo Genes that share ontologies with HLCS: view
genes like me logo Genes that share phenotypes with HLCS: view

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for HLCS

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for HLCS Gene

Localization for HLCS Gene

Subcellular locations from UniProtKB/Swiss-Prot for HLCS Gene

Cytoplasm. Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HLCS Gene COMPARTMENTS Subcellular localization image for HLCS gene
Compartment Confidence
cytosol 5
mitochondrion 5
nucleus 5
extracellular 1

Gene Ontology (GO) - Cellular Components for HLCS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin IDA 14613969
GO:0005652 nuclear lamina IDA 14613969
GO:0005737 cytoplasm IDA --
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with HLCS: view

Pathways & Interactions for HLCS Gene

genes like me logo Genes that share pathways with HLCS: view

Pathways by source for HLCS Gene

Gene Ontology (GO) - Biological Process for HLCS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006464 cellular protein modification process --
GO:0006766 vitamin metabolic process TAS --
GO:0006767 water-soluble vitamin metabolic process TAS --
GO:0006768 biotin metabolic process TAS --
GO:0008283 cell proliferation IMP 18429047
genes like me logo Genes that share ontologies with HLCS: view

No data available for SIGNOR curated interactions for HLCS Gene

Drugs & Compounds for HLCS Gene

(12) Drugs for HLCS Gene - From: HMDB, NovoSeek, and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Biotin Approved Nutra Target 34
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0
S-Adenosylmethionine Approved Nutra 0
Diphosphate Experimental Pharma 0

(10) Additional Compounds for HLCS Gene - From: NovoSeek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Biotinyl-5'-AMP
  • (+)-Biotinyl 5'-adenylate
  • 5'-Adenylic acid anhydride with biotin
  • 5'-Adenylic acid monoanhydride with biotin
  • B-AMP
  • beta-AMP
4130-20-5
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
3-methylcrotonyl-coa
  • 3-Methylbut-2-enoyl-CoA
  • 3-Methylbut-2-enoyl-Coenzyme A
  • 3-Methylcrotonoyl-CoA
  • 3-Methylcrotonoyl-Coenzyme A
  • 3-Methylcrotonyl-CoA
793193-48-3
acetyl-coa
  • Ac-CoA
  • Ac-Coenzyme A
  • Ac-S-CoA
  • Ac-S-Coenzyme A
  • Acetyl coenzyme-A
72-89-9
Acyl-CoA
genes like me logo Genes that share compounds with HLCS: view

Transcripts for HLCS Gene

Unigene Clusters for HLCS Gene

Holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase):
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for HLCS

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for HLCS Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c · 3d ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10a · 10b · 10c · 10d · 10e · 10f · 10g · 10h ^ 11a ·
SP1: - - - - - - - - - -
SP2: -
SP3: - - - - - - - - -
SP4: - - - - -
SP5: - - - - - - - - - -
SP6: - - - - - - -
SP7: - - - - -
SP8: - -
SP9: - - -
SP10: - - - - - - - - - - -
SP11: - - - - - - - - - - - -
SP12: - - - - - -
SP13:
SP14:
SP15:

ExUns: 11b ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^ 20
SP1: - - - -
SP2: - - - -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:

Relevant External Links for HLCS Gene

GeneLoc Exon Structure for
HLCS
ECgene alternative splicing isoforms for
HLCS

Expression for HLCS Gene

mRNA expression in normal human tissues for HLCS Gene

Protein differential expression in normal tissues from HIPED for HLCS Gene

This gene is overexpressed in Lavage (67.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for HLCS Gene



SOURCE GeneReport for Unigene cluster for HLCS Gene Hs.371350

mRNA Expression by UniProt/SwissProt for HLCS Gene

P50747-BPL1_HUMAN
Tissue specificity: Mostly expressed in muscle, placenta, in lesser extent in the brain, kidney, pancreas, liver and lung
genes like me logo Genes that share expression patterns with HLCS: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners for HLCS Gene

Orthologs for HLCS Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HLCS Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia HLCS 35
  • 80.07 (n)
  • 75.59 (a)
HLCS 36
  • 73 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HLCS 35
  • 82.02 (n)
  • 79.53 (a)
HLCS 36
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hlcs 35
  • 78.59 (n)
  • 77.25 (a)
Hlcs 16
Hlcs 36
  • 77 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia HLCS 35
  • 99.27 (n)
  • 99.17 (a)
HLCS 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hlcs 35
  • 78.64 (n)
  • 77.39 (a)
oppossum
(Monodelphis domestica)
Mammalia HLCS 36
  • 54 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HLCS 36
  • 50 (a)
OneToOne
chicken
(Gallus gallus)
Aves HLCS 35
  • 64.57 (n)
  • 61.12 (a)
HLCS 36
  • 50 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HLCS 36
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hlcs 35
  • 60.84 (n)
  • 56.94 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.12060 35
hlcs 35
  • 51.5 (n)
  • 43.13 (a)
hlcs 36
  • 29 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Hcs 36
  • 16 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea bpl-1 35
  • 42.72 (n)
  • 30.71 (a)
bpl-1 36
  • 11 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BPL1 36
  • 20 (a)
OneToOne
BPL1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons HCS1 35
  • 46.01 (n)
  • 34.22 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 44 (a)
OneToOne
Species with no ortholog for HLCS:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HLCS Gene

ENSEMBL:
Gene Tree for HLCS (if available)
TreeFam:
Gene Tree for HLCS (if available)

Paralogs for HLCS Gene

No data available for Paralogs for HLCS Gene

Variants for HLCS Gene

Sequence variations from dbSNP and Humsavar for HLCS Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type MAF
VAR_005084 Holocarboxylase synthetase deficiency (HLCS deficiency)
VAR_009196 Holocarboxylase synthetase deficiency (HLCS deficiency)
VAR_009197 Holocarboxylase synthetase deficiency (HLCS deficiency)
VAR_009198 Holocarboxylase synthetase deficiency (HLCS deficiency)
VAR_009199 Holocarboxylase synthetase deficiency (HLCS deficiency)

Structural Variations from Database of Genomic Variants (DGV) for HLCS Gene

Variant ID Type Subtype PubMed ID
nsv913735 CNV Loss 21882294
nsv913736 CNV Loss 21882294
nsv3507 CNV Loss 18451855
esv2676526 CNV Deletion 23128226
nsv498978 CNV Loss 21111241
esv26519 CNV Loss 19812545
esv2751929 CNV Gain 17911159
esv2659201 CNV Deletion 23128226
nsv510504 CNV Loss 20534489
nsv3508 CNV Insertion 18451855
esv2666311 CNV Deletion 23128226

Variation tolerance for HLCS Gene

Residual Variation Intolerance Score: 26.57% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.69; 46.18% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HLCS Gene

HapMap Linkage Disequilibrium report
HLCS
Human Gene Mutation Database (HGMD)
HLCS

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HLCS Gene

Disorders for HLCS Gene

MalaCards: The human disease database

(10) MalaCards diseases for HLCS Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
holocarboxylase synthetase deficiency
  • multiple carboxylase deficiency - neonatal onset
multiple carboxylase deficiency
  • holocarboxylase synthetase deficiency
biotinidase deficiency
  • holocarboxylase synthetase deficiency
biotin deficiency
  • b7 deficiency
organic acidemia
  • organic aciduria
- elite association
Search HLCS in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

BPL1_HUMAN
  • Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]: A neonatal form of multiple carboxylase deficiency, an autosomal recessive disorder of biotin metabolism, characterized by ketoacidosis, hyperammonemia, excretion of abnormal organic acid metabolites, and dermatitis. In holocarboxylase synthetase deficiency, clinical and biochemical symptoms improve dramatically with administration of biotin. {ECO:0000269 PubMed:10190325, ECO:0000269 PubMed:10590022, ECO:0000269 PubMed:11735028, ECO:0000269 PubMed:12124727, ECO:0000269 PubMed:12633764, ECO:0000269 PubMed:16134170, ECO:0000269 PubMed:20095979, ECO:0000269 PubMed:25690727, ECO:0000269 PubMed:7842009, ECO:0000269 PubMed:8541348, ECO:0000269 PubMed:8817339, ECO:0000269 PubMed:9396568}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for HLCS Gene

multiple carboxylase deficiency,early onset with feeding difficulties,hypotonia,seizures,lethargy and metabolic acidosis mild,hyperammonemia,organic aciduria

Relevant External Links for HLCS

Genetic Association Database (GAD)
HLCS
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HLCS
genes like me logo Genes that share disorders with HLCS: view

Publications for HLCS Gene

  1. From an inborn error patient to a search for regulatory meaning: a biotin conducted voyage. (PMID: 16359899) VelA!zquez-Arellano A. (Mol. Genet. Metab. 2006) 23 25 26 67
  2. Epigenetic regulation of chromatin structure and gene function by biotin. (PMID: 16772434) Hassan Y.I. … Zempleni J. (J. Nutr. 2006) 23 25 26 67
  3. Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA. (PMID: 7842009) Suzuki Y. … Narisawa K. (Nat. Genet. 1994) 2 23 67
  4. Noninvasive prenatal detection of trisomy 21 by an epigenetic-genetic chromosome-dosage approach. (PMID: 19850629) Tong Y.K. … Lo Y.M. (Clin. Chem. 2010) 23 67
  5. The N-terminal domain of human holocarboxylase synthetase facilitates biotinylation via direct interaction with the substrate protein. (PMID: 20085763) Lee C.K. … Jeon Y.H. (FEBS Lett. 2010) 23 67

Products for HLCS Gene

Sources for HLCS Gene

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