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
379974902024Biotin protein ligase as you like it: Either extraordinarily specific or promiscuous protein biotinylation.0
384934272024CircRNA HLCS regulates lens epithelial cell apoptosis via miR-338-3p/BPNT1 axis.0
379974902024Biotin protein ligase as you like it: Either extraordinarily specific or promiscuous protein biotinylation.0
384934272024CircRNA HLCS regulates lens epithelial cell apoptosis via miR-338-3p/BPNT1 axis.0
368905652023Clinical, biochemical, and genetic analysis of 28 Chinese patients with holocarboxylase synthetase deficiency.2
368905652023Clinical, biochemical, and genetic analysis of 28 Chinese patients with holocarboxylase synthetase deficiency.2
285645552017Holocarboxylase Synthetase: A Moonlighting Transcriptional Coregulator of Gene Expression and a Cytosolic Regulator of Biotin Utilization.7
285645552017Holocarboxylase Synthetase: A Moonlighting Transcriptional Coregulator of Gene Expression and a Cytosolic Regulator of Biotin Utilization.7
242391782014Holocarboxylase synthetase acts as a biotin-independent transcriptional repressor interacting with HDAC1, HDAC2 and HDAC7.3
248400432014Holocarboxylase synthetase interacts physically with nuclear receptor co-repressor, histone deacetylase 1 and a novel splicing variant of histone deacetylase 1 to repress repeats.4
242391782014Holocarboxylase synthetase acts as a biotin-independent transcriptional repressor interacting with HDAC1, HDAC2 and HDAC7.3
248400432014Holocarboxylase synthetase interacts physically with nuclear receptor co-repressor, histone deacetylase 1 and a novel splicing variant of histone deacetylase 1 to repress repeats.4
236249572013Holocarboxylase synthetase synergizes with methyl CpG binding protein 2 and DNA methyltransferase 1 in the transcriptional repression of long-terminal repeats.13
240759012013Three promoters regulate the transcriptional activity of the human holocarboxylase synthetase gene.3
241330612013Holocarboxylase synthetase catalyzes biotinylation of heat shock protein 72, thereby inducing RANTES expression in HEK-293 cells.4

Citation

Dessen P

HLCS (holocarboxylase synthetase)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/55984/css/favicon/gene-fusions-explorer/