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.... See more...

Aliases for HLCS Gene

Aliases for HLCS Gene

  • Holocarboxylase Synthetase 2 3 5
  • Holocarboxylase Synthetase (Biotin-(Proprionyl-Coenzyme A-Carboxylase (ATP-Hydrolysing)) Ligase) 2 3
  • Holocarboxylase Synthetase (Biotin-(Proprionyl-CoA-Carboxylase (ATP-Hydrolysing)) Ligase) 2 3
  • Biotin Apo-Protein Ligase 3 4
  • Biotin--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) is a Protein Coding gene. Diseases associated with HLCS include Holocarboxylase Synthetase Deficiency and Multiple Carboxylase Deficiency. Among its related pathways are Metabolism of water-soluble vitamins and cofactors and Metabolism. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and biotin binding.

UniProtKB/Swiss-Prot Summary for HLCS Gene

  • Biotin--protein ligase catalyzing the biotinylation of the 4 biotin-dependent carboxylases acetyl-CoA-carboxylase, pyruvate carboxylase, propionyl-CoA carboxylase, and methylcrotonyl-CoA carboxylase.

Additional gene information for HLCS Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HLCS Gene

Genomics for HLCS Gene

GeneHancer (GH) Regulatory Elements for HLCS Gene

Promoters and enhancers for HLCS Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH21J036989 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 541.1 +0.1 89 2 EP300 HNRNPK ZNF217 CTCF NRF1 POLR2G USF1 RBAK GTF2E2 ZFX HLCS DYRK1A MORC3 SETD4 ENSG00000242553 LINC01436 RPL23AP3 VPS26C ENSG00000207416
GH21J036964 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 530.7 +24.0 24025 3.2 HNRNPK MYC POLR2G GTF2E2 PHF8 ZFX ZNF639 CTCF ZBTB5 ZIC2 HLCS ENSG00000224790 hsa-miR-5095-325 ENSG00000242553 MORC3 TTC3 DYRK1A SETD4 PIGP lnc-PIGP-2
GH21J036994 Promoter/Enhancer 1.1 Ensembl ENCODE CraniofacialAtlas 38.6 -4.6 -4605 0.7 POLR2A CTCF ZBTB33 TAF1 EZH2 MRPL20P1 HLCS PIGP TTC3 RF00017-3705
GH21J037007 Promoter 1.2 EPDnew Ensembl 22.7 -16.5 -16455 1.4 ZFX GABPA ZBTB26 HDAC2 EZH2 MXI1 ELF1 KLF9 ZNF335 ZBTB48 RIPPLY3 HLCS piR-50437-421
GH21J036976 Enhancer 1.1 FANTOM5 ENCODE 22.6 +13.1 13093 1.1 CTCF USF1 ZNF10 TRIM28 REST TOE1 MYC RCOR1 RAD21 CTBP1 HLCS TTC3 RIPPLY3 PIGP DYRK1A lnc-PIGP-2 hsa-miR-5095-325
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HLCS on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HLCS

Top Transcription factor binding sites by QIAGEN in the HLCS gene promoter:
  • E4BP4
  • FOXF2
  • FOXJ2
  • FOXJ2 (long isoform)
  • MAZR
  • NF-kappaB
  • NF-kappaB1
  • Pax-4a
  • RORalpha1
  • TBP

Genomic Locations for HLCS Gene

Genomic Locations for HLCS Gene
chr21:36,750,888-36,990,246
(GRCh38/hg38)
Size:
239,359 bases
Orientation:
Minus strand
chr21:38,123,189-38,362,545
(GRCh37/hg19)
Size:
239,357 bases
Orientation:
Minus strand

Genomic View for HLCS Gene

Genes around HLCS on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HLCS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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; Evidence={ECO:0000305};

neXtProt entry for HLCS Gene

Post-translational modifications for HLCS Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for HLCS Gene

Domains & Families for HLCS Gene

Gene Families for HLCS Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for HLCS Gene

Blocks:
  • Biotin protein ligase, C-terminal
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for HLCS Gene

GenScript: Design optimal peptide antigens:
  • Biotin apo-protein ligase (BPL1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P50747

UniProtKB/Swiss-Prot:

BPL1_HUMAN :
  • Belongs to the biotin--protein ligase family.
Family:
  • Belongs to the biotin--protein ligase family.
genes like me logo Genes that share domains with HLCS: view

Function for HLCS Gene

Molecular function for HLCS Gene

UniProtKB/Swiss-Prot Function:
Biotin--protein ligase catalyzing the biotinylation of the 4 biotin-dependent carboxylases acetyl-CoA-carboxylase, pyruvate carboxylase, propionyl-CoA carboxylase, and methylcrotonyl-CoA carboxylase.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=apo-[methylmalonyl-CoA:pyruvate carboxytransferase] + ATP + biotin = AMP + diphosphate + H(+) + holo-[methylmalonyl-CoA:pyruvate carboxytransferase]; Xref=Rhea:RHEA:23668, Rhea:RHEA-COMP:10508, Rhea:RHEA-COMP:10509, ChEBI:CHEBI:15378, ChEBI:CHEBI:29969, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:57586, ChEBI:CHEBI:83144, ChEBI:CHEBI:456215; EC=6.3.4.9; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:23669; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=apo-[propionyl-CoA:carbon-dioxide ligase (ADP-forming)] + ATP + biotin = AMP + diphosphate + H(+) + holo-[propionyl-CoA:carbon-dioxide ligase (ADP-forming)]; Xref=Rhea:RHEA:11204, Rhea:RHEA-COMP:10511, Rhea:RHEA-COMP:10512, ChEBI:CHEBI:15378, ChEBI:CHEBI:29969, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:57586, ChEBI:CHEBI:83144, ChEBI:CHEBI:456215; EC=6.3.4.10; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:11205; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=apo-[3-methylcrotonoyl-CoA:carbon-dioxide ligase (ADP-forming)] + ATP + biotin = AMP + diphosphate + H(+) + holo-[3-methylcrotonoyl-CoA:carbon-dioxide ligase (ADP-forming)]; Xref=Rhea:RHEA:24376, Rhea:RHEA-COMP:10514, Rhea:RHEA-COMP:10515, ChEBI:CHEBI:15378, ChEBI:CHEBI:29969, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:57586, ChEBI:CHEBI:83144, ChEBI:CHEBI:456215; EC=6.3.4.11; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:24377; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + biotin + L-lysyl-[protein] = AMP + diphosphate + H(+) + N(6)-biotinyl-L-lysyl-[protein]; Xref=Rhea:RHEA:11756, Rhea:RHEA-COMP:9752, Rhea:RHEA-COMP:10505, ChEBI:CHEBI:15378, ChEBI:CHEBI:29969, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:57586, ChEBI:CHEBI:83144, ChEBI:CHEBI:456215; EC=6.3.4.15; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:11757; Evidence=. ;.
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};
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

Enzyme Numbers (IUBMB) for HLCS Gene

Phenotypes From GWAS Catalog for HLCS Gene

Gene Ontology (GO) - Molecular Function for HLCS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
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,IEA 7842009
genes like me logo Genes that share ontologies with HLCS: view
genes like me logo Genes that share phenotypes with HLCS: view

Human Phenotype Ontology for HLCS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HLCS

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HLCS gene
Compartment Confidence
nucleus 5
cytosol 5
mitochondrion 4
extracellular 2
endoplasmic reticulum 2
plasma membrane 1
cytoskeleton 1
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

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 IEA --
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 IEA --
GO:0006768 biotin metabolic process TAS --
GO:0008152 metabolic process IEA --
GO:0008283 cell proliferation IMP 18429047
GO:0009305 protein biotinylation IDA 7842009
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

(11) Drugs for HLCS Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Biotin Approved, Investigational Nutra Target 59
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Pore Blocker, Potentiation 0

(11) Additional Compounds for HLCS Gene - From: HMDB and Novoseek

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
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
14000-31-8
genes like me logo Genes that share compounds with HLCS: view

Transcripts for HLCS Gene

mRNA/cDNA for HLCS Gene

8 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HLCS

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

Expression for HLCS Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for HLCS Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HLCS

SOURCE GeneReport for Unigene cluster for HLCS Gene:

Hs.371350

mRNA Expression by UniProt/SwissProt for HLCS Gene:

P50747-BPL1_HUMAN
Tissue specificity: Widely expressed (PubMed:7842009, PubMed:7753853). Mostly expressed in muscle, placenta and to a lower extent in the brain, kidney, pancreas, liver and lung (PubMed:7842009).

Evidence on tissue expression from TISSUES for HLCS Gene

  • Liver(4.6)
  • Nervous system(4.5)
  • Bone marrow(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for HLCS Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • eye
  • face
  • head
  • lip
Thorax:
  • diaphragm
  • esophagus
  • lung
Abdomen:
  • kidney
  • stomach
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with HLCS: view

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
chimpanzee
(Pan troglodytes)
Mammalia HLCS 31 30
  • 99.27 (n)
OneToOne
dog
(Canis familiaris)
Mammalia HLCS 31 30
  • 82.02 (n)
OneToOne
cow
(Bos Taurus)
Mammalia HLCS 31 30
  • 80.07 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hlcs 30
  • 78.64 (n)
mouse
(Mus musculus)
Mammalia Hlcs 17 31 30
  • 78.59 (n)
oppossum
(Monodelphis domestica)
Mammalia HLCS 31
  • 54 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HLCS 31
  • 50 (a)
OneToOne
chicken
(Gallus gallus)
Aves HLCS 31 30
  • 64.57 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HLCS 31
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hlcs 30
  • 60.84 (n)
zebrafish
(Danio rerio)
Actinopterygii hlcs 31 30
  • 51.5 (n)
OneToOne
Dr.12060 30
fruit fly
(Drosophila melanogaster)
Insecta Hcs 31
  • 16 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea bpl-1 31 30
  • 42.72 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BPL1 33 31
  • 20 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons HCS1 30
  • 46.01 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 44 (a)
OneToOne
Species where no ortholog for HLCS was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for HLCS: view image

Paralogs for HLCS Gene

No data available for Paralogs for HLCS Gene

Variants for HLCS Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HLCS Gene

SNP ID Clinical significance and condition Chr 21 pos Variation AA Info Type
645566 Uncertain Significance: Holocarboxylase synthetase deficiency 36,767,260(-) T/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
648263 Pathogenic: Holocarboxylase synthetase deficiency 36,930,375(-) A/T NONSENSE,NON_CODING_TRANSCRIPT_VARIANT
654583 Pathogenic: Holocarboxylase synthetase deficiency 36,936,860(-) A/AT NONSENSE,NON_CODING_TRANSCRIPT_VARIANT
658832 Uncertain Significance: Holocarboxylase synthetase deficiency 36,936,735(-) A/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
660589 Uncertain Significance: Holocarboxylase synthetase deficiency 36,936,558(-) A/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for HLCS Gene

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

Variant ID Type Subtype PubMed ID
dgv1269e212 CNV loss 25503493
dgv814e214 CNV loss 21293372
esv26519 CNV loss 19812545
esv2659201 CNV deletion 23128226
esv2666311 CNV deletion 23128226
esv2676526 CNV deletion 23128226
esv2751929 CNV gain 17911159
esv2763684 CNV gain+loss 21179565
esv3568184 CNV loss 25503493
esv3646977 CNV loss 21293372
esv3646978 CNV loss 21293372
esv3646982 CNV loss 21293372
esv3646983 CNV loss 21293372
nsv1072177 CNV deletion 25765185
nsv1127894 CNV deletion 24896259
nsv1131635 CNV deletion 24896259
nsv1136632 CNV deletion 24896259
nsv1144950 CNV deletion 24896259
nsv1160711 CNV duplication 26073780
nsv3507 CNV deletion 18451855
nsv3508 CNV insertion 18451855
nsv472584 CNV novel sequence insertion 20440878
nsv474050 CNV novel sequence insertion 20440878
nsv498978 CNV loss 21111241
nsv510504 OTHER sequence alteration 20534489
nsv587471 CNV loss 21841781

Variation tolerance for HLCS Gene

Residual Variation Intolerance Score: 26.6% 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)

Additional Variant Information for HLCS Gene

Human Gene Mutation Database (HGMD)
HLCS
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HLCS

SNP Genotyping and Copy Number Assay Products

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

Disorders for HLCS Gene

MalaCards: The human disease database

(21) MalaCards diseases for HLCS Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
holocarboxylase synthetase deficiency
  • hlcs deficiency
multiple carboxylase deficiency
  • mcd
biotinidase deficiency
  • btd deficiency
biotin deficiency
  • b7 deficiency
organic acidemia
  • organic acid metabolism disorder
- elite association - COSMIC cancer census association via MalaCards
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

Additional Disease Information for HLCS

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

Publications for HLCS Gene

  1. Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA. (PMID: 7842009) Suzuki Y … Narisawa K (Nature genetics 1994) 2 3 4 23 54
  2. Reduced half-life of holocarboxylase synthetase from patients with severe multiple carboxylase deficiency. (PMID: 18429047) Bailey LM … Polyak SW (Human mutation 2008) 3 4 23 54
  3. Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency. (PMID: 11735028) Yang X … Suzuki Y (Human genetics 2001) 3 4 23 54
  4. Identification and characterization of mutations in patients with holocarboxylase synthetase deficiency. (PMID: 10190325) Aoki Y … Narisawa K (Human genetics 1999) 3 4 23 54
  5. Gene identification in 1.6-Mb region of the Down syndrome region on chromosome 21. (PMID: 9037601) Ohira M … Ohki M (Genome research 1997) 3 4 23 54

Products for HLCS Gene

Sources for HLCS Gene