HLCS

GENERAL INFORMATION

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Gene name

HLCS

Gene description

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

Protein class

Disease related genes
Enzymes
Mitochondrial proteins
Potential drug targets
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

6
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

General cytoplasmic expression with a granular pattern.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining mainly consistent with RNA expression data.

Data reliability

Uncertain based on 1 antibody.
HPA017379
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Heart muscle

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



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 BROWSER

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ENST00000336648
 
ENST00000399120
 
ENST00000419461
 
ENST00000427746
 
ENST00000448340
 
ENST00000612277
 
 
 
 


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
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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
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Show » 77 8.8 No 0
HLCS-005 ENSP00000396370
ENST00000419461
C9JD75
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Show » 87 9.6 No 0
HLCS-201 ENSP00000479939
ENST00000612277
P50747
Show all »
Show » Show » 726 80.8 No 0