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MCCC1

GENERAL INFORMATION

Gene name

 MCCC1

Gene description

 Methylcrotonoyl-CoA carboxylase 1 (alpha)

Protein class

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

Predicted localization

 Intracellular,Secreted

Number of transcripts

 6
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic expression in most tissues with a granular pattern.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Approved based on 1 antibody.
HPA008310
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

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 83.38)

Entrez gene

 56922

UniProt

 Q96RQ3 (UniProt - Evidence at protein level)

neXtProt

 NX_Q96RQ3

Antibodypedia

 MCCC1 antibodies

PROTEIN BROWSER
MCCC1-001
MCCC1-002
MCCC1-003
MCCC1-201
MCCC1-202
MCCC1-203

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
MCCC1-001
ENSP00000265594
ENST00000265594
Q96RQ3 [Direct mapping]
Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial
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Enzymes
   ENZYME proteins
   Ligase
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004075 [biotin carboxylase activity]
GO:0004485 [methylcrotonoyl-CoA carboxylase activity]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005739 [mitochondrion]
GO:0005743 [mitochondrial inner membrane]
GO:0005759 [mitochondrial matrix]
GO:0005829 [cytosol]
GO:0006552 [leucine catabolic process]
GO:0006766 [vitamin metabolic process]
GO:0006767 [water-soluble vitamin metabolic process]
GO:0006768 [biotin metabolic process]
GO:0009083 [branched-chain amino acid catabolic process]
GO:0009374 [biotin binding]
GO:0034641 [cellular nitrogen compound metabolic process]
GO:0044281 [small molecule metabolic process]
GO:0046872 [metal ion binding]
Show all
 725 aa
80.5 kDa 		Yes 0
MCCC1-002
ENSP00000419898
ENST00000492597
E9PHF7 [Direct mapping]
Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004075 [biotin carboxylase activity]
GO:0005524 [ATP binding]
GO:0005739 [mitochondrion]
GO:0008152 [metabolic process]
GO:0046872 [metal ion binding]
Show all
 616 aa
68.3 kDa 		No 0
MCCC1-003
ENSP00000420433
ENST00000476176
E9PG35 [Direct mapping]
Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial
Show all
   Phobius predicted secreted proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004075 [biotin carboxylase activity]
GO:0005524 [ATP binding]
GO:0005739 [mitochondrion]
GO:0008152 [metabolic process]
GO:0046872 [metal ion binding]
Show all
 598 aa
66.5 kDa 		No 0
MCCC1-201
ENSP00000441253
ENST00000539926
F5GYT8 [Direct mapping]
Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004075 [biotin carboxylase activity]
GO:0005524 [ATP binding]
GO:0005739 [mitochondrion]
GO:0008152 [metabolic process]
GO:0046872 [metal ion binding]
Show all
 575 aa
64 kDa 		No 0
MCCC1-202
ENSP00000480435
ENST00000610757
F5GYT8 [Direct mapping]
Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004075 [biotin carboxylase activity]
GO:0005524 [ATP binding]
GO:0005739 [mitochondrion]
GO:0008152 [metabolic process]
GO:0046872 [metal ion binding]
Show all
 575 aa
64 kDa 		No 0
MCCC1-203
ENSP00000486824
ENST00000629669
G5E9X5 [Direct mapping]
Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial; Methylcrotonoyl-Coenzyme A carboxylase 1 (Alpha), isoform CRA_a
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004075 [biotin carboxylase activity]
GO:0005524 [ATP binding]
GO:0008152 [metabolic process]
GO:0046872 [metal ion binding]
Show all
 434 aa
48.2 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.