HLCS

GENE INFORMATION

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Gene name

HLCS (HGNC Symbol)

Synonyms

HCS

Description

Holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) (HGNC Symbol)

Entrez gene 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]

Chromosome

21

Cytoband

q22.13

Chromosome location (bp)

36750888 - 36990236

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000159267 (version 78.38)

Entrez gene

3141

UniProt

P50747 (UniProt - Evidence at protein level)

neXtProt

NX_P50747

Antibodypedia

HLCS antibodies
 

PROTEIN VIEW

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HLCS-001
 
HLCS-002
 
HLCS-003
 
HLCS-004
 
HLCS-005
 
HLCS-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

HLCS-001 ENSP00000338387
ENST00000336648
P50747
Show all »
Show » Show » 726 80.8 No 0
HLCS-002 ENSP00000382071
ENST00000399120
P50747
Show all »
Show » Show » 726 80.8 No 0
HLCS-003 ENSP00000392923
ENST00000448340
P50747
Show all »
Show » Show » 92 10.1 No 0
HLCS-004 ENSP00000396443
ENST00000427746
C9JCQ9
Show all »
Show » 77 8.8 No 0
HLCS-005 ENSP00000396370
ENST00000419461
C9JD75
Show all »
Show » 87 9.6 No 0
HLCS-201 ENSP00000479939
ENST00000612277
P50747
Show all »
Show » Show » 726 80.8 No 0