HLCS - holocarboxylase synthetase Gene

Homo sapiens

Also known as HCS

Gene ID: 3141 | Gene type: protein coding

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

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

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

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-12564	Phthalazinone pyrazole	Inhibitor	≥98.0%	Unkown
HY-12455	Duocarmycin A		/	Unkown
HY-RS06218	HLCS Human Pre-designed siRNA Set A		/	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

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