MCCC1

GENERAL INFORMATION

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Gene name

MCCC1

Gene description

Methylcrotonoyl-CoA carboxylase 1 (alpha)

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

5
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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

Normal tissues displayed moderate to strong cytoplasmic staining. Adipocytes and skeletal muscle cells were weakly stained or negative.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
HPA008310
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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

MCCC1 (HGNC Symbol)

Synonyms

MCCA

Description

Methylcrotonoyl-CoA carboxylase 1 (alpha) (HGNC Symbol)

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]

Chromosome

3

Cytoband

q27.1

Chromosome location (bp)

183015218 - 183116075

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000078070 (version 78.38)

Entrez gene

56922

UniProt

Q96RQ3 (UniProt - Evidence at protein level)

neXtProt

NX_Q96RQ3

Antibodypedia

MCCC1 antibodies


PROTEIN BROWSER

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ENST00000265594
 
ENST00000476176
 
ENST00000492597
 
ENST00000539926
 
ENST00000610757
 
 
 
 


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)

MCCC1-001 ENSP00000265594
ENST00000265594
Q96RQ3
Show all »
Show » Show » 725 80.5 Yes 0
MCCC1-002 ENSP00000419898
ENST00000492597
E9PHF7
Show all »
Show » Show » 616 68.3 No 0
MCCC1-003 ENSP00000420433
ENST00000476176
E9PG35
Show all »
Show » Show » 598 66.5 No 0
MCCC1-201 ENSP00000441253
ENST00000539926
Show » Show » 575 64 No 0
MCCC1-202 ENSP00000480435
ENST00000610757
Show » Show » 575 64 No 0