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Tchem
HLCS
Biotin--protein ligase

Protein Classes
Protein Summary
Description
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. 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]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000336648
  • ENSP00000338387
  • ENSG00000159267
  • ENST00000399120
  • ENSP00000382071
  • ENST00000612277
  • ENSP00000479939

Symbol
  • HCS
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
molecular function
0.99
kinase perturbation
0.81
histone modification site profile
0.8
cell type or tissue
0.73
transcription factor binding site profile
0.73


Related Tools
Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 69.25   (req: < 5)
Gene RIFs: 25   (req: <= 3)
Antibodies: 141   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 69.25   (req: >= 5)
Gene RIFs: 25   (req: > 3)
Antibodies: 141   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 15
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligands: 3
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
GWAS Traits (2)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
hematocrit
1
2
2
41.5
hemoglobin measurement
1
1
1
22.3
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
hematocrit
2
41.5
hemoglobin measurement
1
22.3
Orthologs (13)
1 – 5 of 13
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
holocarboxylase synthetase
VGNC:6592
473989
Macaque
holocarboxylase synthetase
694733
Mouse
MGI:894646
110948
Rat
RGD:1565360
288240
Dog
holocarboxylase synthetase
VGNC:50300
478412
Species
Name
OMA
EggNOG
Inparanoid
Chimp
holocarboxylase synthetase
Macaque
holocarboxylase synthetase
Mouse
Rat
Dog
holocarboxylase synthetase
Protein Structure (0 Structures, 1 AlphaFold Model)
RepresentationColor Scheme
AF-P50747-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

Pathways (11)
Biotin transport and metabolism (R-HSA-196780)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 5 of 9
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Biotin transport and metabolism
Reactome
Defective HLCS causes multiple carboxylase deficiency
Reactome
Defects in biotin (Btn) metabolism
Reactome
Defects in vitamin and cofactor metabolism
Reactome
Disease
Name
Explore in Pharos
Explore in Source
Biotin transport and metabolism
Defective HLCS causes multiple carboxylase deficiency
Defects in biotin (Btn) metabolism
Defects in vitamin and cofactor metabolism
Disease
Gene Ontology Terms (20)
Items per page:
10
1 – 9 of 9
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Physical Interaction (IPI)
UniProtKB
Inferred from Electronic Annotation (IEA)
UniProtKB-KW
Inferred from Electronic Annotation (IEA)
UniProtKB-EC
Inferred from Electronic Annotation (IEA)
UniProtKB-EC
Inferred from Electronic Annotation (IEA)
UniProtKB-EC
Inferred from Electronic Annotation (IEA)
Ensembl
Protein-Protein Interactions (105)
1 – 10 of 105
TMC7
Tdark
Family: IC
Novelty: 0.36769179
p_int: 0.999995676
p_ni: 0.000004324
Score: 0.252
Data Source: BioPlex,STRINGDB
CATSPERD
Tdark
Novelty: 0.85066163
p_int: 0.999990427
p_ni: 0.000009573
Score: 0.685
Data Source: BioPlex,STRINGDB
TBC1D20
Tbio
Novelty: 0.08651866
p_int: 0.999932265
p_ni: 2.91e-7
p_wrong: 0.000067444
Score: 0.54
Data Source: BioPlex,STRINGDB
SPATA46
Tdark
Novelty: 0.327066
p_int: 0.985988398
p_ni: 0.014002949
p_wrong: 0.000008653
Score: 0.513
Data Source: BioPlex,STRINGDB
PC
Tbio
Family: Enzyme
Novelty: 0.00271694
Score: 0.99
Data Source: Reactome,STRINGDB
MCCC1
Tbio
Family: Enzyme
Novelty: 0.01234441
Score: 0.99
Data Source: Reactome,STRINGDB
PCCA
Tbio
Family: Enzyme
Novelty: 0.00515417
Score: 0.989
Data Source: Reactome,STRINGDB
BTD
Tbio
Family: Enzyme
Novelty: 0.01638573
Score: 0.988
Data Source: STRINGDB
ACACA
Tchem
Family: Enzyme
Novelty: 0.00248313
Score: 0.988
Data Source: Reactome,STRINGDB
ACACB
Tchem
Family: Enzyme
Novelty: 0.00462116
Score: 0.985
Data Source: Reactome,STRINGDB
Publication Statistics
PubMed Score  69.25

PubMed score by year
PubTator Score  325.13

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer