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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
External Ids for HLCS Gene
- HGNC: 4976
- Entrez Gene: 3141
- Ensembl: ENSG00000159267
- OMIM: 609018
- UniProtKB: P50747
Previous GeneCards Identifiers for HLCS Gene
- GC21M034700
- GC21M037043
- GC21M037045
- GC21M038123
- GC21M023599
Summaries 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
- HGNC(4976)
- Entrez Gene(3141)
- Ensembl(ENSG00000159267)
- OMIM(609018)
- UniProtKB(P50747)
- Open Targets Platform(ENSG00000159267)
- Monarch Initiative
- Search for HLCS at DataMed
- Search for HLCS at HumanCyc
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 Pubs
Promoters and enhancers for HLCS Gene
- 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 the GeneHancer Hub at the UCSC Golden Path
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
- chr21:36,748,625-36,990,255
- (GRCh38/hg38)
- Size:
- 241,631 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:
-
- 21q22.13 by HGNC
- 21q22.13 by Entrez Gene
- 21q22.13 by Ensembl
HLCS Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression for HLCS Gene
Post-translational modifications for HLCS Gene
Other Protein References for HLCS Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for HLCS
-
Abcam antibodies for HLCS
- Invitrogen Antibodies for HLCS (AFLGC-HLCS)
-
Biorbyt antibodies for HLCS
- Sino Biological Antibodies for HLCS
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for HLCS
- Origene Custom Protein Services for HLCS
- antibodies-online: Show 5 available HLCS Proteins ranked by validation data
- Compare Top HLCS Proteins
-
Quality Products:
-
Abcam proteins for HLCS
Assay Products
- antibodies-online: Show 4 available HLCS Elisa Kits ranked by validation data
- Compare Top HLCS Elisa Kits
-
Quality Products:
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
- InterPro:
- Blocks:
-
- Biotin protein ligase, C-terminal
- 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- Family:
-
- Belongs to the biotin--protein ligase family.
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={ECO:0000305|PubMed:10590022};.
- 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={ECO:0000269|PubMed:7753853};.
- 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={ECO:0000305|PubMed:10590022};.
- 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={ECO:0000305|PubMed:10590022};.
- 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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000166 | nucleotide binding | IEA | -- |
| 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 | -- |
Phenotypes for HLCS Gene
- MGI mutant phenotypes for HLCS:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for HLCS:
-
- Increased vaccinia virus (VACV) infection
- no effect
- shRNA abundance <= 50%
- Decreased epidermal growth factor (EGF) endocytosis, decreased transferrin (TF) endocytosis
- Decreased viability
- Increased viability (proliferation)
- Synthetic lethal with MLN4924 (a NAE inhibitor)
- Increased viability with MLN4924 (a NAE inhibitor)
- Increased mitotic delay (prometaphase or metaphase alignment problems, MAP)
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for HLCS - Select products 50% OFF >
- * HLCS CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for HLCS
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for HLCS
-
Santa Cruz Biotechnology (SCBT) CRISPR for HLCS
miRNA for HLCS Gene
- miRTarBase miRNAs that target HLCS
-
- hsa-miR-218-5p (MIRT440495)
- mmu-miR-3091-3p (MIRT577065)
- mmu-miR-2861 (MIRT577066)
- mmu-miR-743b-3p (MIRT583084)
- mmu-miR-743a-3p (MIRT583085)
- mmu-miR-720 (MIRT586900)
- mmu-miR-3104-3p (MIRT586901)
- mmu-miR-223-3p (MIRT602198)
- mmu-miR-452-3p (MIRT602199)
- mmu-miR-344f-5p (MIRT602200)
- mmu-miR-3473c (MIRT602201)
- mmu-miR-691 (MIRT602202)
- hsa-miR-6749-3p (MIRT619786)
- hsa-miR-203b-3p (MIRT619787)
- hsa-miR-642a-5p (MIRT619788)
- hsa-miR-4539 (MIRT619789)
- hsa-miR-146a-3p (MIRT619790)
- hsa-miR-4469 (MIRT619791)
- hsa-miR-2276-5p (MIRT619792)
- hsa-miR-6892-3p (MIRT619793)
- hsa-miR-5196-3p (MIRT619794)
- hsa-miR-8485 (MIRT619795)
- hsa-miR-4767 (MIRT626193)
- hsa-miR-6870-3p (MIRT710576)
- hsa-miR-5193 (MIRT710577)
- hsa-miR-6891-3p (MIRT710578)
- hsa-miR-6072 (MIRT710579)
- hsa-miR-1224-3p (MIRT710580)
- hsa-miR-3691-3p (MIRT710581)
- hsa-miR-1306-5p (MIRT710582)
- hsa-miR-587 (MIRT718173)
- hsa-miR-6836-3p (MIRT718174)
- hsa-miR-211-5p (MIRT718175)
- hsa-miR-204-5p (MIRT718176)
- hsa-miR-6829-3p (MIRT718177)
- hsa-miR-6791-3p (MIRT718178)
- hsa-miR-6778-3p (MIRT718179)
- hsa-miR-4685-3p (MIRT718180)
- hsa-miR-4287 (MIRT718181)
- hsa-miR-6747-3p (MIRT718182)
- hsa-miR-6832-3p (MIRT718183)
- hsa-miR-3620-3p (MIRT718184)
- hsa-miR-6752-3p (MIRT718185)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for HLCS
- Browse OriGene Inhibitory RNA Products For HLCS
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HLCS
Clone Products
- Applied Biological Materials (abm): Clones for HLCS - Select products 50% OFF >
- * HLCS as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for HLCS
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for HLCS
Cell Line Products
-
Horizon Cell Lines 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.
| 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 |
- Cytosol (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000785 | chromatin | IDA | 14613969 |
| GO:0005652 | nuclear lamina | IDA | 14613969 |
| GO:0005737 | cytoplasm | IEA,IBA | 21873635 |
| GO:0005739 | mitochondrion | IEA | -- |
| GO:0005829 | cytosol | TAS | -- |
Pathways & Interactions for HLCS Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Metabolism of water-soluble vitamins and cofactors | ||
| 2 | Metabolism |
.40
|
|
| 3 | Biotin metabolism | ||
Pathways by source for HLCS Gene
1 BioSystems pathway for HLCS Gene
4 Reactome pathways for HLCS Gene
2 KEGG pathways for HLCS Gene
Interacting Proteins for HLCS Gene
Selected Interacting proteins:
P50747-BPL1_HUMAN
ENSP00000382071
for HLCS Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for HLCS
| 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:0009305 | protein biotinylation | IDA | 7842009 |
| GO:0016570 | histone modification | IDA | 14613969 |
No data available for SIGNOR curated interactions for HLCS Gene
Drugs & Compounds for HLCS Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Biotin | Approved, Investigational | Nutra | Target, substrate | 62 | ||
| Phosphoric acid | Approved | Pharma | 0 | |||
| Adenosine monophosphate | Approved, Investigational | Nutra | 0 | |||
| ATP | Investigational | Nutra | Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| Biotinyl-5'-AMP |
|
4130-20-5 |
|
|||
| pyrophosphate |
|
14000-31-8 |
|
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 :
-
- ENST00000336648 6010 nts (view in UCSC)
- ENST00000399120 6466 nts (view in UCSC)
- ENST00000419461 702 nts (view in UCSC)
- ENST00000427746 666 nts (view in UCSC)
- ENST00000448340 780 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for HLCS - Select products 50% OFF >
- * HLCS CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for HLCS
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for HLCS
-
Santa Cruz Biotechnology (SCBT) CRISPR for HLCS
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for HLCS
- Browse OriGene Inhibitory RNA Products For HLCS
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HLCS
Clone Products
- Applied Biological Materials (abm): Clones for HLCS - Select products 50% OFF >
- * HLCS as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for HLCS
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for HLCS
| 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
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.371350mRNA 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
- Nervous system(4.6)
- Liver(4.6)
- Bone marrow(4.3)
- Skin(2.3)
- Kidney(2.2)
- Blood(2.2)
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
Primer Products
-
OriGene qPCR primer pairs for HLCS
-
OriGene qPCR primer pairs and template standards for HLCS
Gene Expression 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | HLCS 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | HLCS 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | HLCS 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Hlcs 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Hlcs 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | HLCS 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | HLCS 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | HLCS 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | HLCS 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | hlcs 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | hlcs 30 31 |
|
OneToOne | |
| Dr.12060 30 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Hcs 31 |
|
OneToOne | |
| Worm (Caenorhabditis elegans) |
Secernentea | bpl-1 30 31 |
|
OneToOne | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | BPL1 31 33 |
|
OneToOne | |
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | HCS1 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
- Species where no ortholog for HLCS was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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 |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HLCS Gene
Disorders for HLCS Gene
(15) MalaCards diseases for HLCS Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| holocarboxylase synthetase deficiency |
|
|
| multiple carboxylase deficiency |
|
|
| biotinidase deficiency |
|
|
| organic acidemia |
|
|
| biotin deficiency |
|
|
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
- Genetic Association Database
- (GAD)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
Publications for HLCS Gene
- Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA. (PMID: 7842009) Suzuki Y … Narisawa K (Nature genetics 1994) 2 3 4 23
- 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
- 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
- Identification and characterization of mutations in patients with holocarboxylase synthetase deficiency. (PMID: 10190325) Aoki Y … Narisawa K (Human genetics 1999) 3 4 23
- 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
ExternalLinks
Products for HLCS Gene
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for HLCS
- Origene Custom Protein Services for HLCS
- Origene shrna, sirna, and RNAi products in human, mouse, rat for HLCS
- Browse OriGene Inhibitory RNA Products For HLCS
- OriGene qPCR primer pairs for HLCS
- OriGene qPCR primer pairs and template standards for HLCS
- OriGene CRISPR knockouts for HLCS
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For HLCS
- Sino Biological Human cDNA Clone for HLCS
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Sino Biological Antibodies for HLCS
- Browse Sino Biological Assays
- Browse Antibodies
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for HLCS
- Novus Biologicals proteins and lysates for HLCS
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
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- Abcam antibodies for HLCS
- Abcam proteins for HLCS
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- Browse Primary Antibodies
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- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
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- Invitrogen Antibodies for HLCS (AFLGC-HLCS)
- VectorBuilder Custom and pre-made DNA vectors for HLCS (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for HLCS (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for HLCS (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for HLCS CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for HLCS
- antibodies-online: Show 9 available HLCS Antibodies ranked by validation data
- Compare Top HLCS Antibodies
- antibodies-online: Show 4 available HLCS Elisa Kits ranked by validation data
- Compare Top HLCS Elisa Kits
- Quality Products:
- antibodies-online: Show 5 available HLCS Proteins ranked by validation data
- Compare Top HLCS Proteins
- Quality Products:
- Horizon Cell Lines for HLCS
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for HLCS
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for HLCS
- Search GeneCopoeia for miRNA 3'UTR Target clone products for HLCS
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HLCS
- Biorbyt antibodies for HLCS
Sources for HLCS Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB