HMGCL

GENERAL INFORMATION

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Gene name

HMGCL

Gene description

3-hydroxymethyl-3-methylglutaryl-CoA lyase

Protein class

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

Predicted localization

Intracellular,Secreted

Number of transcripts

3
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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

Granular cytoplasmic expression in most tissues.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining mainly consistent with RNA expression data.

Data reliability

Supportive based on 1 antibody.
HPA004727
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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

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

HMGCL (HGNC Symbol)

Synonyms

HL

Description

3-hydroxymethyl-3-methylglutaryl-CoA lyase (HGNC Symbol)

Entrez gene summary

The protein encoded by this gene belongs to the HMG-CoA lyase family. It is a mitochondrial enzyme that catalyzes the final step of leucine degradation and plays a key role in ketone body formation. Mutations in this gene are associated with HMG-CoA lyase deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

Chromosome

1

Cytoband

p36.11

Chromosome location (bp)

23801885 - 23838620

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000117305 (version 78.38)

Entrez gene

3155

UniProt

P35914 (UniProt - Evidence at protein level)

neXtProt

NX_P35914

Antibodypedia

HMGCL antibodies


PROTEIN BROWSER

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ENST00000235958
 
ENST00000374490
 
ENST00000436439
 
 
 
 


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)

HMGCL-002 ENSP00000363614
ENST00000374490
P35914
Show all »
Show » Show » 325 34.4 Yes 0
HMGCL-007 ENSP00000389281
ENST00000436439
P35914
Show all »
Show » Show » 254 26.9 Yes 0
HMGCL-010 ENSP00000235958
ENST00000235958
Show » Show » 182 19 No 0