HLCS (holocarboxylase synthetase)

2016-10-01  

Identity

HGNC
LOCATION
21q22.13
LOCUSID
ALIAS
HCS
FUSION GENES

Other Information

Locus ID:

NCBI: 3141
MIM: 609018
HGNC: 4976
Ensembl: ENSG00000159267

Variants:

dbSNP: 3141
ClinVar: 3141
TCGA: ENSG00000159267
COSMIC: HLCS

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000159267ENST00000336648P50747
ENSG00000159267ENST00000399120P50747
ENSG00000159267ENST00000419461C9JD75
ENSG00000159267ENST00000427746C9JCQ9
ENSG00000159267ENST00000448340A0A0C4DG27
ENSG00000159267ENST00000612277P50747

Expression (GTEx)

0
5
10
15

Pathways

PathwaySourceExternal ID
Biotin metabolismKEGGko00780
Biotin metabolismKEGGhsa00780
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of water-soluble vitamins and cofactorsREACTOMER-HSA-196849
Biotin transport and metabolismREACTOMER-HSA-196780

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
179043412008Holocarboxylase synthetase regulates expression of biotin transporters by chromatin remodeling events at the SMVT locus.36
184526522008Prokaryotic BirA ligase biotinylates K4, K9, K18 and K23 in histone H3.31
206885002011Holocarboxylase synthetase is a chromatin protein and interacts directly with histone H3 to mediate biotinylation of K9 and K18.22
191579412009N- and C-terminal domains in human holocarboxylase synthetase participate in substrate recognition.13
205921042010Biotin regulates the expression of holocarboxylase synthetase in the miR-539 pathway in HEK-293 cells.12
201532872010Holocarboxylase synthetase: correlation of protein localisation with biological function.11
174177202007Carnitine transporter and holocarboxylase synthetase deficiencies in The Faroe Islands.9
218024112011Human holocarboxylase synthetase with a start site at methionine-58 is the predominant nuclear variant of this protein and has catalytic activity.9
236249572013Holocarboxylase synthetase synergizes with methyl CpG binding protein 2 and DNA methyltransferase 1 in the transcriptional repression of long-terminal repeats.9
197407362009Distinct amino termini of two human HCS isoforms influence biotin acceptor substrate recognition.7

Citation

Dessen P

HLCS (holocarboxylase synthetase)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/55984/hlcs