HLCS - holocarboxylase synthetase Gene

Also Known as HCS

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3141

About HLCS

Cytogenetic location: 21q22.13 Genomic coordinates (GRCh38): 21:36,748,625-36,990,211 (from NCBI)

This gene has 9 transcripts (splice variants), 213 orthologues and is associated with 3 phenotypes. Ubiquitous expression in thyroid (RPKM 4.3), prostate (RPKM 3.3) and 25 other tissues.

Summary

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]

HLCS Products (8)

mRNA	Protein	Name
NM_000411.8	NP_000402.3	biotin--protein ligase isoform 1
NM_001242784.3	NP_001229713.1	biotin--protein ligase isoform 1
NM_001242785.2	NP_001229714.1	biotin--protein ligase isoform 1
NM_001352514.2	NP_001339443.1	biotin--protein ligase isoform 2
NM_001352515.2	NP_001339444.1	biotin--protein ligase isoform 1
NM_001352516.2	NP_001339445.1	biotin--protein ligase isoform 1
NM_001352517.1	NP_001339446.1	biotin--protein ligase isoform 1
NM_001352518.2	NP_001339447.1	biotin--protein ligase isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables biotin binding	IDA IDA: Inferred from direct assay	14613969	GOA
enables biotin--[biotin carboxyl-carrier protein] ligase activity	IDA IDA: Inferred from direct assay	7842009	GOA
enables biotin--[biotin carboxyl-carrier protein] ligase activity	IMP IMP: Inferred from mutant phenotype	18429047	GOA
enables enzyme binding	IPI IPI: Inferred from physical interaction	19157941	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	20085763	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in post-translational protein modification	IDA IDA: Inferred from direct assay	14613969	GOA
involved in response to biotin	IDA IDA: Inferred from direct assay	17904341	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in chromatin	IDA IDA: Inferred from direct assay	14613969	GOA
located in cytosol	IDA IDA: Inferred from direct assay	9630604	GOA
located in nuclear lamina	IDA IDA: Inferred from direct assay	14613969	GOA
located in nuclear matrix	IDA IDA: Inferred from direct assay	14613969	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HLCS Protein Structure

BPL_LplA_LipB

BPL_C

0
200
400
600
726 a.a.

Protein Preferred Names	Protein Names
biotin--protein ligase	biotin apo-protein ligase

HLCS Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	HLCS	P50747	MED19	Homo sapiens	A0JLT2-2	Y2H Array	32296183
Intra	HLCS	P50747	MED19	Homo sapiens	A0JLT2-2	Y2H Prey Pooling	32296183
Intra	HLCS	P50747	ANKRD29	Homo sapiens	Q8N6D5	Y2H Array	32296183
Intra	HLCS	P50747	ANKRD29	Homo sapiens	Q8N6D5	Y2H Prey Pooling	32296183
Intra	HLCS	P50747	ANKRD29	Homo sapiens	Q8N6D5	Validated Y2H	32296183
Intra	HLCS	P50747	ACACB	Homo sapiens	O00763	NMR	20085763
Intra	HLCS	P50747	ACACB	Homo sapiens	O00763	Enzymatic Study	20085763
Intra	HLCS	P50747	KRTAP5-9	Homo sapiens	P26371	Y2H Prey Pooling	32296183
Intra	HLCS	P50747	KRTAP5-9	Homo sapiens	P26371	Y2H Array	32296183
Intra	HLCS	P50747	SPATA46	Homo sapiens	Q5T0L3	Y2H Prey Pooling	32296183
Intra	HLCS	P50747	SPATA46	Homo sapiens	Q5T0L3	Validated Y2H	32296183
Intra	HLCS	P50747	SPATA46	Homo sapiens	Q5T0L3	Y2H Array	32296183
Intra	HLCS	P50747	POT1	Homo sapiens	Q9NUX5	Pull Down	21044950

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Holocarboxylase Synthetase Deficiency	HLCS DEFICIENCY Early-Onset Multiple Carboxylase Deficiency Biotin- Ligase Deficiency Neonatal Multiple Carboxylase Deficiency Multiple Carboxylase Deficiency, Neonatal Form Multiple Carboxylase Deficiency, Early Onset Multiple Carboxylase Deficiency - Neonatal Onset Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency Early-Onset Combined Carboxylase Deficiency Infantile Multiple Carboxylase Deficiency Biotin-Responsive Mcd Biotin-Responsive Multiple Carboxylase Deficiency Early-Onset Mcd Mcd Neonatal Form
Multiple Carboxylase Deficiency	Mcd Holocarboxylase Synthetase Deficiency
Biotinidase Deficiency	Late-Onset Multiple Carboxylase Deficiency BTD DEFICIENCY Multiple Carboxylase Deficiency, Late-Onset Multiple Carboxylase Deficiency, Juvenile-Onset Juvenile-Onset Multiple Carboxylase Deficiency Biotin Deficiency Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency Deficiency Of Biotinidase Biot Carboxylase Deficiency, Multiple, Late-Onset Late-Onset Mcd Mcd Juvenile Form Biotin Deficiency Disease
Organic Acidemia	Organic Aciduria Disorder Of Organic Acid Metabolism Organic Acid Metabolism Disorder Organic Acidemias Inherited Organic Acidemia Organic Acidurias Aciduria Organic
Metabolic Acidosis
Propionic Acidemia	Ketotic Hyperglycinemia Propionyl-Coa Carboxylase Deficiency Pcc Deficiency Propionicacidemia Glycinemia, Ketotic Hyperglycinemia With Ketoacidosis And Leukopenia Ketotic Glycinemia Propionic Aciduria Prop Acidemia, Propionic PA-1 Ketotic Ii Glycinemia Hyperglycinemia, Ketotic Propionic Acidemia Type I Propionic Acidemia Type Ii PA-2 Propionicaciduria
Biotin Deficiency	Biotin Deficiency Disease B7 Deficiency Biotan Vitamin Deficiency
3-Methylcrotonyl-Coa Carboxylase Deficiency	3-Methylcrotonylglycinuria Mcc Deficiency Methylcrotonyl-Coa Carboxylase Deficiency Bmcc Deficiency 3-Mcc Deficiency 3mcc Mccd 3mcc Deficiency Isolated 3-Methylcrotonyl-Coa Carboxylase Deficiency 3-Mcc 3-Methylcrotonyl-Coenzyme A Carboxylase Deficiency Deficiency Of Methylcrotonoyl-Coa Carboxylase 3-Methyl Crotonyl-Coa Carboxylase Deficiency 3-Methylcrotonyl Coa Carboxylase 1 Deficiency
Methylmalonic Acidemia	Methylmalonic Aciduria Mma Acidemia, Methylmalonic Isolated Methylmalonic Acidemia
Neurodegeneration With Brain Iron Accumulation 6	NBIA6 Copan Neurodegeneration With Brain Iron Accumulation Due To Coasy Mutation Coasy Protein-Associated Neurodegeneration Neurodegeneration, With Brain Iron Accumulation, Type 6
Monocarboxylate Transporter 1 Deficiency	Ketoacidosis Due To Monocarboxylate Transporter-1 Deficiency MCT1D Ketosis
Down Syndrome	Trisomy 21 Complete Trisomy 21 Syndrome Down'S Syndrome Trisomy 21 Syndrome Down'S Syndrome - Trisomy 21 Downs Syndrome G Trisomy 47,Xx,+21 47,Xy,+21 Trisomy G Down Syndrome, Susceptibility To Chromosome 21 Trisomy Trisomy 21 Nos Abnormal Autosomes 21
Alpha-Methylacetoacetic Aciduria	Beta-Ketothiolase Deficiency 3-Ketothiolase Deficiency 3-Oxothiolase Deficiency Mitochondrial Acetoacetyl-Coa Thiolase Deficiency Alpha-Methylacetoaceticaciduria Mat Deficiency T2 Deficiency 2-Methyl-3-Hydroxybutyricacidemia Beta Ketothiolase Deficiency Pseudo-Zellweger Syndrome 2-Methyl-3-Hydroxybutyric Acidemia 3-Ktd Deficiency Peroxisomal Thiolase Deficiency 2-Methylacetoacetyl-Coenzyme A Thiolase Deficiency 3-Alpha-Oxothiolase Deficiency Methylacetoacetyl-Coenzyme A Thiolase Deficiency Mitochondrial 2-Methylacetoacetyl-Coa Thiolase Deficiency - Potassium Stimulated Β-Ketothiolase Deficiency Alpha Methylacetoacetic Aciduria Alpha-Methyl-Acetoacetyl-Coa Thiolase Deficiency Mitochondrial Acetoacetyl-Coenzyme A Thiolase Deficiency 3KTD Aciduria, Alpha-Methylacetoacetic Deficiency Of Acetyl-Coa Acetyltransferase Deficiency Of Acetyl-Coa Acyltransferase Hepatic Methionine Adenosyltransferase Deficiency Bifunctional Peroxisomal Enzyme Deficiency
Orofaciodigital Syndrome Viii	Edwards Syndrome Trisomy 18 Complete Trisomy 18 Syndrome OFD8 Orofaciodigital Syndrome 8 Trisomy 18 Syndrome Oral-Facial-Digital Syndrome With Hypoplastic Epiglottis E3 Trisomy Oral-Facial-Digital Syndrome Type 8 Orofaciodigital Syndrome Type 8 Ofds Viii Oral-Facial-Digital Syndrome, Type Viii Ofd Syndrome 8 Ofds 8 Oral Facial Digital Syndrome 8 Oral Facial Digital Syndrome Type 8 18 Trisomy Chromosome 18 Trisomy Trisomy 16-18 Trisomy E Trisomy E Syndrome Chromosome 18 Duplication Oral-Facial-Digital Syndrome, Edwards Type Orofaciodigital Syndrome, Edwards Type Chromosome 18, Trisomy Cleft Lip/Palate With Abnormal Thumbs And Microcephaly Trisomy 18 Chromosome Abnormal Autosomes 18
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Mcad Deficiency Carnitine Deficiency Secondary To Medium-Chain Acyl-Coa Dehydrogenase Deficiency Acadm Deficiency Acyl-Coa Dehydrogenase, Medium Chain, Deficiency Of Medium Chain Acyl-Coa Dehydrogenase Deficiency ACADMD Mcadh Deficiency Mcadd Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency Acyl-Coa Dehydrogenase Medium-Chain Deficiency Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency Medium Chain Acyl Dehydrogenase Deficiency
Patau Syndrome	Trisomy 13 Complete Trisomy 13 Syndrome Trisomy 13 Syndrome D1 Trisomy Patau'S Syndrome Complete Trisomy 13 Chromosome 13, Trisomy 13 Complete D Trisomy Syndrome Bartholin-Patau Syndrome Chromosome 13 Duplication D1 Trisomy Syndrome D>1< Trisomy Syndrome Patau Chromosome 13 Trisomy Abnormal Autosomes 13
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Vlcad Deficiency Very Long Chain Acyl-Coa Dehydrogenase Deficiency Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency Lcad Deficiency Very Long-Chain Acyl-Coa Dehydrogenase Deficiency Long Chain Acyl-Coa Dehydrogenase Deficiency ACADVLD Acadl Deficiency Vlcadd Long-Chain Acyl-Coa Dehydrogenase Deficiency Acadvl Acyl-Coa Dehydrogenase Very Long Chain Deficiency Very Long-Chain Acyl Coenzyme A Dehydrogenase Deficiency Vlcad-C Vlcad-H Acyl-Coa Dehydrogenase, Very Long Chain, Deficiency Of Acyl-Coa Dehydrogenase Very Long-Chain Deficiency Acyl-Coa Dehydrogenase Long-Chain Deficiency Deficiency, Very Long Chain Acyl-Coa Dehydrogenase Long Chain/Very Long Chain Acyl Coa Dehydrogenase Deficiency
Cerebral Palsy	Infantile Cerebral Palsy Mixed Cerebral Palsy Palsy Cerebral Palsy, Cerebral Cerebral Palsy, Mixed
Maple Syrup Urine Disease	MSUD Bckd Deficiency Branched-Chain Ketoaciduria Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency Keto Acid Decarboxylase Deficiency Maple Syrup Urine Disease, Type Ii Branched Chain Ketoaciduria Classic Maple Syrup Urine Disease Intermittent Maple Syrup Urine Disease Maple Syrup Urine Disease, Type Ia Ketoacidaemia Bckdh Deficiency Branched-Chain 2-Ketoacid Dehydrogenase Deficiency Thiamine-Responsive Maple Syrup Urine Disease Intermediate Maple Syrup Urine Disease Maple Syrup Urine Disease Type 1a Maple Syrup Urine Disease Type 1b Maple Syrup Urine Disease Type 2 Maple Syrup Urine Disease, Type Ib Dihydrolipoamide Dehydrogenase Deficiency Branched-Chain Ketoacid Dehydrogenase Deficiency Maple Syrup Disease Ketoacidemia Classic Bckd Deficiency Classic Msud Classic Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency Classic Branched-Chain Ketoaciduria Thiamine-Responsive Bckd Deficiency Thiamine-Responsive Msud Thiamine-Responsive Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency Intermittent Bckd Deficiency Intermittent Msud Intermittent Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency Maple Syrup Urine Disease 1a MSUD1A Maple Syrup Urine Disease Type Ia Msud Type Ia Maple Syrup Urine Disease 1b MSUD1B Maple Syrup Urine Disease Type Ib Msud Type Ib Maple Syrup Urine Disease 2 MSUD2 Maple Syrup Urine Disease Type Ii Msud Type Ii Nadh Cytochrome B5 Reductase Deficiency Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency Ketonemia Maple Syrup Urine Disease, Type 1b Ketoacid Decarboxylase Deficiency Oxoacid Decarboxylase Deficiency Branched Chain Ketoacid Dehydrogenase Deficiency Msud - [Maple-Syrup-Urine Disease] Ketoaminoacidaemia Bckd - [Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency] Maple-Syrup-Urine Disorder Maple-Syrup-Urine Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-12564	Phthalazinone pyrazole	Inhibitor	98.0%	Unkown
HY-183354	HLC40		/	Unkown
HY-RS06218	HLCS Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	HLCS	VGNC	VGNC:73477
Mus musculus	HLCS	MGD	MGI:894646
Canis familiaris	HLCS	VGNC	VGNC:50300
Bos taurus	HLCS	VGNC	VGNC:50274
Rattus norvegicus	HLCS	RGD	RGD:1565360
Felis catus	HLCS	VGNC	VGNC:67588
Others	HLCS	NCBI