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GENE AND PROTEIN SUMMARY

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Gene name

HMGCL

Description

3-hydroxymethyl-3-methylglutaryl-CoA lyase

Protein class

Enzymes, Mapped to UniProt SWISS-PROT, Potentially secreted proteins

Protein evidence

Medium

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]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

5 in total
0 with predicted TM region
2 with predicted signal peptide

SUBCELLULAR LOCATION SUMMARY

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Main location(s)

Plasma membrane, Cytoplasm

Additional location(s)

 

Staining summary

Staining of cytoplasm and plasma membrane in all three cell lines.

Reliability (Single)

Antibodies in assay

HPA004727
 

NORMAL TISSUE & ORGAN SUMMARY

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Staining summary

A majority of normal tissues displayed moderate to strong cytoplasmic staining with a granular pattern. Weak, often basal staining was observed in squamous epithelia. Lymphoid tissues were mainly negative.

Tissue specificity

Staining in 59 out of 80 cell types

Reliability (Single)

Antibodies in assay

HPA004727
 

Organ

No of cell types

Antibody staining

CNS (brain) 11
Hematopoietic (blood) 8
Liver and pancreas 5
Digestive (GI-tract) 13
Respiratory (lung) 4
Cardiovascular 1
Female tissues 12
Placenta 2
Male tissues 5
Urinary tract (kidney) 3
Skin and soft tissues 13
Endocrine tissues 3

Level of antibody staining





Strong
Moderate
Weak
Negative

CANCER TISSUE SUMMARY

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Staining summary

Antibody staining in 74% of the cancers

Antibodies in assay

HPA004727
 

Tissue

Cancer staining

Normal tissue
staining

Breast cancer
 
Carcinoid
 
Cervical cancer
 
 
Colorectal cancer
 
 
Endometrial cancer
 
 
Glioma
 
Head and neck cancer
 
 
Liver cancer
 
 
Lung cancer
 
 
Lymphoma
 
 
 

Tissue

Cancer staining

Normal tissue
staining

Melanoma
 
Ovarian cancer
 
Pancreatic cancer
 
Prostate cancer
 
Renal cancer
 
Skin cancer
 
Stomach cancer
 
 
Testis cancer
 
Thyroid cancer
 
Urothelial cancer
 

Level of antibody staining





Strong
Moderate
Weak
Negative

CELL LINE SUMMARY

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RNA evidence

Medium
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

HPA004727

HPA004727

A-431 Skin Medium
Moderate
A-549 Lung Medium
CACO-2 Colon Medium
HEK 293 Embryonal kidney Medium
HeLa Cervix Medium
Hep-G2 Liver Medium
MCF-7 Pleural effusion Medium
PC-3 Bone marrow Medium
RT-4 Urinary bladder Medium
U-2 OS Bone Medium
Moderate
U-251 MG Brain Medium
Moderate

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

HPA004727 pAb