MCCC1 (methylcrotonyl-CoA carboxylase subunit 1)

2014-11-01  

Identity

HGNC
LOCATION
3q27.1
LOCUSID
ALIAS
MCC-B,MCCA,MCCCalpha
FUSION GENES

Other Information

Locus ID:

NCBI: 56922
MIM: 609010
HGNC: 6936
Ensembl: ENSG00000078070

Variants:

dbSNP: 56922
ClinVar: 56922
TCGA: ENSG00000078070
COSMIC: MCCC1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000078070ENST00000265594Q96RQ3
ENSG00000078070ENST00000265594A0A0S2Z693
ENSG00000078070ENST00000466650F2Z3E2
ENSG00000078070ENST00000476176E9PG35
ENSG00000078070ENST00000486226F8WDI3
ENSG00000078070ENST00000487634F2Z2Z7
ENSG00000078070ENST00000490284F8WF46
ENSG00000078070ENST00000492597E9PHF7
ENSG00000078070ENST00000495767F2Z2Z7
ENSG00000078070ENST00000497830F2Z3E2
ENSG00000078070ENST00000497959G5E9X5
ENSG00000078070ENST00000610757F5GYT8
ENSG00000078070ENST00000629669G5E9X5

Expression (GTEx)

0
5
10
15
20
25
30
35
40

Pathways

PathwaySourceExternal ID
Valine, leucine and isoleucine degradationKEGGko00280
Valine, leucine and isoleucine degradationKEGGhsa00280
Metabolic pathwaysKEGGhsa01100
Leucine degradation, leucine => acetoacetate + acetyl-CoAKEGGhsa_M00036
Leucine degradation, leucine => acetoacetate + acetyl-CoAKEGGM00036
DiseaseREACTOMER-HSA-1643685
Diseases of metabolismREACTOMER-HSA-5668914
Defects in vitamin and cofactor metabolismREACTOMER-HSA-3296482
Defects in biotin (Btn) metabolismREACTOMER-HSA-3323169
Defective HLCS causes multiple carboxylase deficiencyREACTOMER-HSA-3371599
MetabolismREACTOMER-HSA-1430728
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of water-soluble vitamins and cofactorsREACTOMER-HSA-196849
Biotin transport and metabolismREACTOMER-HSA-196780
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Branched-chain amino acid catabolismREACTOMER-HSA-70895

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
378051642023Methylcrotonyl-CoA carboxylase subunit 1 (MCCA) regulates multidrug resistance in multiple myeloma.1
378051642023Methylcrotonyl-CoA carboxylase subunit 1 (MCCA) regulates multidrug resistance in multiple myeloma.1
335590302021Association study of MCCC1/LAMP3 and DGKQ variants with Parkinson's disease in patients of Malay ancestry.1
335590302021Association study of MCCC1/LAMP3 and DGKQ variants with Parkinson's disease in patients of Malay ancestry.1
326528602020SNPs in SNCA, MCCC1, DLG2, GBF1 and MBNL2 are associated with Parkinson's disease in southern Chinese population.6
326528602020SNPs in SNCA, MCCC1, DLG2, GBF1 and MBNL2 are associated with Parkinson's disease in southern Chinese population.6
3173053020193-Methylcrotonyl-CoA carboxylase deficiency newborn screening in a population of 536,008: is routine screening necessary?3
319010422019[Genetic analysis of newborns with abnormal metabolism of 3-hydroxyisovalerylcarnitine].0
3173053020193-Methylcrotonyl-CoA carboxylase deficiency newborn screening in a population of 536,008: is routine screening necessary?3
319010422019[Genetic analysis of newborns with abnormal metabolism of 3-hydroxyisovalerylcarnitine].0
269142372016Association of three candidate genetic variants in RAB7L1/NUCKS1, MCCC1 and STK39 with sporadic Parkinson's disease in Han Chinese.10
2760125720163-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening.8
276299392016Methylcrotonoyl-CoA carboxylase 1 potentiates RLR-induced NF-κB signaling by targeting MAVS complex.11
269142372016Association of three candidate genetic variants in RAB7L1/NUCKS1, MCCC1 and STK39 with sporadic Parkinson's disease in Han Chinese.10
2760125720163-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening.8

Citation

Dessen P

MCCC1 (methylcrotonyl-CoA carboxylase subunit 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/68839/mccc1-(methylcrotonyl-coa-carboxylase-subunit-1)