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GENE AND PROTEIN SUMMARY

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Gene name

MCCC1

Description

methylcrotonoyl-CoA carboxylase 1 (alpha)

Protein class

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

Protein evidence

High

Entrez gene summary

This gene encodes the large subunit of 3-methylcrotonyl-CoA carboxylase. This enzyme functions as a heterodimer and catalyzes the carboxylation of 3-methylcrotonyl-CoA to form 3-methylglutaconyl-CoA. Mutations in this gene are associated with 3-Methylcrotonylglycinuria, an autosomal recessive disorder of leucine catabolism. [provided by RefSeq, Jul 2008]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

11 in total
0 with predicted TM region
7 with predicted signal peptide

SUBCELLULAR LOCATION SUMMARY

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Main location(s)

Mitochondria

Additional location(s)

 

Staining summary

Staining of mitochondria in all three cell lines.

Reliability (Single)

Antibodies in assay

HPA008310
 

NORMAL TISSUE & ORGAN SUMMARY

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Staining summary

Strong cytoplasmic positivity was observed in pyramidal neurons, umbrella cells in urothelium and subsets of cells in the seminiferous ducts. The gastrointestinal tract, gall bladder, airway epithelium displayed moderate cytoplasmic immunoreactivity. Remaining normal tissues were in general negative.

Tissue specificity

Staining in 27 out of 80 cell types

Reliability (Single)

Antibodies in assay

HPA008310
 

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 21% of the cancers

Antibodies in assay

HPA008310
 

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

High
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

HPA008310

HPA008310

A-431 Skin High
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 High
PC-3 Bone marrow Medium
RT-4 Urinary bladder High
U-2 OS Bone Medium
Weak
U-251 MG Brain Medium
Weak

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

HPA008310 pAb