HLCS (holocarboxylase synthetase)

2016-10-01  

Identity

HGNC
HLCS
LOCATION
21q22.13
LOCUSID
3141
ALIAS
HCS
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

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/js/js/lib/css/template-nav.css