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FLASH GENE

Symbol

HLCS

contributors: mct - updated : 21-08-2012

HGNC name	holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)
HGNC id	4976

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	HLCS holocarboxylase synthetase deficiency
Location	21q22.13      Physical location : 38.123.189 - 38.362.536
Synonym name	biotin apoprotin ligase
	acetyl-CoA-carboxylaseligase
	methylmalonyl-CoA-carboxytransferaseligase
	propionyl-CoA-carboxylase
Synonym symbol(s)	HCS, BPL1
EC.number	6.3.4.10/ 6.3.4.9/ 6.3.4.156.3.4 9

DNA

TYPE	functioning gene
STRUCTURE	239.37 kb     12 Exon(s)    1 Copie(s)

10 Kb 5' upstream gene genomic sequence study

text structure

a translation start site in methionine-58 (HLCS58) might enter the cell nucleus

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000411 12 - 6019 NP_000402 81 726 - 2010 20153287 NM_001242785 12 - 6112 NP_001229714 81 726 - 2010 20153287 NM_001242784 12 - 6953 NP_001229713 81 726 - 2010 20153287 variant 4 - - 8500 - - - Leon del Rio HLCS58 - - - 108 - - 2011 21802411 nuclear protein, is catalytically active

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive liver       moderately Endocrine pancreas       moderately Nervous brain       moderately Respiratory lung       moderately Urinary kidney       moderately

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine   Epithelial secretory glandular exocrine   Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal domain recognizes the charged region of biotin acceptor protein, distinctly from the recognition by the catalytic domain
	biotin protein ligase catalytic domain

mono polymer

monomer

HOMOLOGY

interspecies

homolog to C.elegans M 162.7

Homologene

FAMILY

biotin--protein ligase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus,nucleoplasm
text	may also enter the nuclear compartment

basic FUNCTION	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
	catalyzes the incorporation of biotin into apo carboxylase and the biotinylation of the four biotin-dependent carboxylases in the cell
	responsible for attaching biotin onto the biotin-dependent enzymes that reside in the cytoplasm and mitochondria
	plays a pivotal role in biotin-dependent metabolic and epigenetic phenomena
	biotin protein ligase, which has a pivotal role in biotin-dependent metabolic pathways and epigenetic phenomena

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	interacts directly with histone H3, causing biotinylation of K9 and K18
	HLCS acts as a biotin-independent transcriptional repressor interacting with HDAC1, HDAC2 and HDAC7

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

HLCS

related resource

MITOP database

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS