MCCC1
entrez
56922
canonical
uniprot
Q96RQ3
canonical
ensembl
ENSG00000078070
resolver
ensp
ENSP00000265594
resolver
ensp
ENSP00000419898
resolver
ensp
ENSP00000674505
resolver
ensp
ENSP00000683196
resolver
enst
ENST00000265594
resolver
enst
ENST00000492597
resolver
genesymbol
MCCC1
resolver
genesymbol_syn
MCCA
resolver
hgnc
HGNC:6936
resolver
uniprot
A0A0S2Z693
resolver
uniprot
E9PHF7
resolver
uniprot
Q59ES4
resolver
uniprot
Q9H959
resolver
uniprot
Q9NS97
resolver
uniprot_entry
A0A0S2Z693_HUMAN
resolver
uniprot_entry
E9PHF7_HUMAN
resolver
uniprot_entry
MCCA_HUMAN
resolver
uniprot_sec
Q59ES4
resolver
uniprot_sec
Q9H959
resolver
uniprot_sec
Q9NS97
resolver
amino_acid_sequence
MAAASAVSVLLVAAERNRWHRLPSLLLPPRTWVWRQRTMKYTTATGRNITKVLIANRGEIACRVMRTAKKLGVQTVAVYSEADRNSMHVDMADEAYSIGPAPSQQSYLSMEKIIQVAKTSAAQAIHPGCGFLSENMEFAELCKQEGIIFIGPPPSAIRDMGIKSTSKSIMAAAGVPVVEGYHGEDQSDQCLKEHARRIGYPVMIKAVRGGGGKGMRIVRSEQEFQEQLESARREAKKSFNDDAMLIEKFVDTPRHVEVQVFGDHHGNAVYLFERDCSVQRRHQKIIEEAPAPGIKSEVRKKLGEAAVRAAKAVNYVGAGTVEFIMDSKHNFCFMEMNTRLQVEHPVTEMITGTDLVEWQLRIAAGEKIPLSQEEITLQGHAFEARIYAEDPSNNFMPVAGPLVHLSTPRADPSTRIETGVRQGDEVSVHYDPMIAKLVVWAADRQAALTKLRYSLRQYNIVGLHTNIDFLLNLSGHPEFEAGNVHTDFIPQHHKQLLLSRKAAAKESLCQAALGLILKEKAMTDTFTLQAHDQFSPFSSSSGRRLNISYTRNMTLKDGKNNVAIAVTYNHDGSYSMQIEDKTFQVLGNLYSEGDCTYLKCSVNGVASKAKLIILENTIYLFSKEGSIEIDIPVPKYLSSVSSQETQGGPLAPMTGTIEKVFVKAGDKVKAGDSLMVMIAMKMEHTIKSPKDGTVKKVFYREGAQANRHTPLVEFEEEESDKRESE
uniprot
proteins
disease_involvement
DISEASE: 3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]: An autosomal recessive disorder of leucine catabolism. The phenotype is variable, ranging from neonatal onset with severe neurological involvement to asymptomatic adults. There is a characteristic organic aciduria with massive excretion of 3-hydroxyisovaleric acid and 3-methylcrotonylglycine, usually in combination with a severe secondary carnitine deficiency. {ECO:0000269|PubMed:11170888, ECO:0000269|PubMed:11181649, ECO:0000269|PubMed:11406611, ECO:0000269|PubMed:16010683, ECO:0000269|PubMed:17968484, ECO:0000269|PubMed:21071250, ECO:0000269|PubMed:22150417, ECO:0000269|PubMed:22264772, ECO:0000269|PubMed:22642865, ECO:0000269|PubMed:25382614, ECO:0000269|PubMed:27601257, ECO:0000269|Ref.6}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
6.4.1.4
uniprot
proteins
function
FUNCTION: Biotin-attachment subunit of the 3-methylcrotonyl-CoA carboxylase, an enzyme that catalyzes the conversion of 3-methylcrotonyl-CoA to 3-methylglutaconyl-CoA, a critical step for leucine and isovaleric acid catabolism. {ECO:0000269|PubMed:17360195, ECO:0000269|PubMed:32561715}.
uniprot
proteins
mass_dalton
80473
uniprot
proteins
pathway_participation
PATHWAY: Amino-acid degradation; L-leucine degradation; (S)-3-hydroxy-3-methylglutaryl-CoA from 3-isovaleryl-CoA: step 2/3. {ECO:0000269|PubMed:17360195, ECO:0000269|PubMed:32561715}.
uniprot
proteins
post_translational_modification
PTM: Acetylated. {ECO:0000250|UniProtKB:Q99MR8}.
uniprot
proteins
pubmed
11170888
uniprot
proteins
pubmed
11181649
uniprot
proteins
pubmed
11401427
uniprot
proteins
pubmed
11406611
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16010683
uniprot
proteins
pubmed
16023992
uniprot
proteins
pubmed
17360195
uniprot
proteins
pubmed
17968484
uniprot
proteins
pubmed
21071250
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22150417
uniprot
proteins
pubmed
22264772
uniprot
proteins
pubmed
22642865
uniprot
proteins
pubmed
23438705
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25382614
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27601257
uniprot
proteins
pubmed
28887846
uniprot
proteins
pubmed
32561715
uniprot
proteins
sequence_length
725
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000269|PubMed:16023992}.
uniprot
proteins