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MCCC1 - methylcrotonyl-CoA carboxylase subunit 1 Gene

Also Known as MCCA; MCC-B; MCCCalpha

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 56922

About MCCC1

Cytogenetic location: 3q27.1 Genomic coordinates (GRCh38): 3:183,015,218-183,116,196 (from NCBI)

This gene has 14 transcripts (splice variants), 202 orthologues, 4 paralogues and is associated with 3 phenotypes. Ubiquitous expression in fat (RPKM 22.0), kidney (RPKM 20.5) and 25 other tissues.

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]

MCCC1 Products (3)

mRNA	Protein	Name
NM_001293273.2	NP_001280202.1	methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial isoform 2
NM_001363880.1	NP_001350809.1	methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial isoform 3
NM_020166.5	NP_064551.3	methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial isoform 1 precursor

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
contributes to methylcrotonoyl-CoA carboxylase activity	IDA IDA: Inferred from direct assay	17360195	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	17360195	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of methylcrotonoyl-CoA carboxylase complex	IDA IDA: Inferred from direct assay	17360195	GOA
part of methylcrotonoyl-CoA carboxylase complex	IPI IPI: Inferred from physical interaction	17360195	GOA
located in mitochondrial matrix	IDA IDA: Inferred from direct assay	16023992	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MCCC1 Protein Structure

Biotin_carb_N

CPSase_L_D2

Biotin_carb_C

Biotin_lipoyl

0
200
400
600
725 a.a.

Protein Preferred Names	Protein Names
methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial	3-methylcrotonyl-CoA carboxylase 1

MCCC1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	MCCC1	Q96RQ3	MCCC2	Homo sapiens	Q9HCC0	Anti Tag CoIP	33961781
Intra	MCCC1	Q96RQ3	MCCC2	Homo sapiens	Q9HCC0	GMS	17360195
Intra	MCCC1	Q96RQ3	MCCC2	Homo sapiens	Q9HCC0	Anti Tag CoIP	17360195

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	MCC1D Mccd Type 1 Mcc1 Deficiency Methylcrotonylglycinuria Type I 3-Methylcrotonylglycinuria I 3-Methylcrotonoyl-Coa Carboxylase 1 Deficiency 3-Methylcrotonylglycinuria Type I Mcgi 3 Methylcrotonyl-Coa Carboxylase 1 Deficiency 3-Methylcrotonyl Coa Carboxylase 1 Deficiency
3-Methylcrotonyl-Coa Carboxylase Deficiency	3-Methylcrotonylglycinuria Mcc Deficiency Methylcrotonyl-Coa Carboxylase Deficiency Bmcc Deficiency 3-Mcc Deficiency 3mcc Mccd 3mcc Deficiency Isolated 3-Methylcrotonyl-Coa Carboxylase Deficiency 3-Mcc 3-Methylcrotonyl-Coenzyme A Carboxylase Deficiency Deficiency Of Methylcrotonoyl-Coa Carboxylase 3-Methyl Crotonyl-Coa Carboxylase Deficiency 3-Methylcrotonyl Coa Carboxylase 1 Deficiency
Mucinous Intrahepatic Cholangiocarcinoma	Mucin-Producing Intrahepatic Cholangiocarcinoma
Multiple Carboxylase Deficiency	Mcd Holocarboxylase Synthetase Deficiency
Tuberculum Sellae Meningioma	Meningioma Of The Tuberculum Sellae
Sella Turcica Neoplasm	Tumor Of Sella Turcica
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Scad Deficiency Acads Deficiency Lipid-Storage Myopathy Secondary To Short-Chain Acyl-Coa Dehydrogenase Deficiency Scadh Deficiency Short-Chain Acyl-Coa Dehydrogenase Deficiency Deficiency Of Butyryl-Coa Dehydrogenase Short Chain Acyl-Coa Dehydrogenase Deficiency ACADSD Scadd Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency Acyl-Coa Dehydrogenase, Short Chain, Deficiency Of Acyl-Coa Dehydrogenase Short-Chain Deficiency
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Vlcad Deficiency Very Long Chain Acyl-Coa Dehydrogenase Deficiency Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency Lcad Deficiency Very Long-Chain Acyl-Coa Dehydrogenase Deficiency Long Chain Acyl-Coa Dehydrogenase Deficiency ACADVLD Acadl Deficiency Vlcadd Long-Chain Acyl-Coa Dehydrogenase Deficiency Acadvl Acyl-Coa Dehydrogenase Very Long Chain Deficiency Very Long-Chain Acyl Coenzyme A Dehydrogenase Deficiency Vlcad-C Vlcad-H Acyl-Coa Dehydrogenase, Very Long Chain, Deficiency Of Acyl-Coa Dehydrogenase Very Long-Chain Deficiency Acyl-Coa Dehydrogenase Long-Chain Deficiency Deficiency, Very Long Chain Acyl-Coa Dehydrogenase Long Chain/Very Long Chain Acyl Coa Dehydrogenase Deficiency
Parkinson Disease, Late-Onset	Parkinson Disease Parkinson'S Disease PD PARK Parkinson Disease, Susceptibility To Late Onset Parkinson'S Disease Late Onset Parkinson Disease Paralysis Agitans Primary Parkinsonism Idiopathic Parkinson Disease Parkinson'S Parkinson Disease, Late-Onset, Susceptibility To Parkinson Disease, Age Of Onset, Modifier Lewy Body Parkinson Disease Idiopathic Parkinson'S Disease Pd - [Parkinson Disease] Parkinson Disease Nos Parkinson, Nos Primary Parkinson Disease

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-170692	Hypoglycemic agent 3		/	Unkown
HY-RS08218	MCCC1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	MCCC1	VGNC	VGNC:68208
Rattus norvegicus	MCCC1	RGD	RGD:1310615
Bos taurus	MCCC1	VGNC	VGNC:31298
Canis familiaris	MCCC1	VGNC	VGNC:43070
Macaca mulatta	MCCC1	VGNC	VGNC:74676
Mus musculus	MCCC1	MGD	MGI:1919289
Others	MCCC1	NCBI