[Term]
id: PR:000010233
name: methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial
def: "A protein that is a translation product of the human MCCC1 gene or a 1:1 ortholog thereof." [PRO:DNx]
comment: Category=gene.
synonym: "MCCA" RELATED Gene-based []
synonym: "MCCC1" EXACT PRO-short-label [PRO:DNx]
synonym: "MCCase subunit alpha" EXACT []
synonym: "3-methylcrotonyl-CoA carboxylase 1" EXACT []
synonym: "3-methylcrotonyl-CoA:carbon dioxide ligase subunit alpha" EXACT []
synonym: "3-methylcrotonyl-CoA carboxylase biotin-containing subunit" EXACT []
is_a: PR:000000001 ! protein

[Term]
id: PR:000026114
name: methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial sequence variant MCCA A289V (human)
def: "A methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial sequence variant (human) that has a Val residue at the position equivalent to Ala-289 of the amino acid sequence represented by UniProtKB:Q96RQ3. UniProtKB:Q96RQ3, Ala-289, CHEBI:30015." [PMID:11181649, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence.
synonym: "hMCCC1/var:MCCA A289V" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:Q96RQ3, Ala-289, CHEBI:30015" EXACT PRO-proteoform-std [PRO:DAN]
xref: UniProtKB_VAR:VAR_012785
is_a: PR:000026110 ! methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:Q96RQ3
name: methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial (human)
def: "A methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial that is encoded in the genome of human. The human MCCC1 gene contains 19 exons, and maps to the chromosomal location 3q25-27." [PMID:11170888, PRO:CNA]
comment: Category=organism-gene.
synonym: "MCCA" RELATED Gene-based [UniProtKB:Q96RQ3]
synonym: "MCCC1" RELATED Gene-based [UniProtKB:Q96RQ3]
synonym: "hMCCC1" EXACT PRO-short-label [PRO:DNx]
synonym: "MCCase subunit alpha (human)" EXACT [UniProtKB:Q96RQ3]
synonym: "3-methylcrotonyl-CoA carboxylase 1 (human)" EXACT [UniProtKB:Q96RQ3]
synonym: "3-methylcrotonyl-CoA:carbon dioxide ligase subunit alpha (human)" EXACT [UniProtKB:Q96RQ3]
synonym: "3-methylcrotonyl-CoA carboxylase biotin-containing subunit (human)" EXACT [UniProtKB:Q96RQ3]
xref: UniProtKB:Q96RQ3
intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens
intersection_of: PR:000010233 ! methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial
relationship: has_gene_template HGNC:6936 ! MCCC1 (human)

[Term]
id: PR:000026112
name: methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial sequence variant MCCA L437P (human)
def: "A methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial sequence variant (human) that has a Pro residue at the position equivalent to Leu-437 of the amino acid sequence represented by UniProtKB:Q96RQ3. UniProtKB:Q96RQ3, Leu-437, CHEBI:50342." [PMID:11181649, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence.
synonym: "hMCCC1/var:MCCA L437P" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:Q96RQ3, Leu-437, CHEBI:50342" EXACT PRO-proteoform-std [PRO:DAN]
xref: UniProtKB_VAR:VAR_012788
is_a: PR:000026110 ! methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000026113
name: methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial sequence variant MCCA R385S (human)
def: "A methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial sequence variant (human) that has a Ser residue at the position equivalent to Arg-385 of the amino acid sequence represented by UniProtKB:Q96RQ3. UniProtKB:Q96RQ3, Arg-385, CHEBI:29999." [PMID:11181649, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence.
synonym: "hMCCC1/var:MCCA R385S" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:Q96RQ3, Arg-385, CHEBI:29999" EXACT PRO-proteoform-std [PRO:DAN]
xref: UniProtKB_VAR:VAR_012787
is_a: PR:000026110 ! methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000026110
name: methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial sequence variant (human)
def: "A methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial (human) that has at least one amino acid residue that differs from the corresponding residue found in another methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial (human) when such a difference arises as the result of genetic differences, i.e., different alleles of methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial (human). Operationally, this means the sequence representation of the methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial (human) has at least one amino acid residue that differs from the equivalent residue found in the sequence represented by UniProtKB:Q96RQ3-1." [PRO:CNA]
comment: Category=organism-sequence.
synonym: "hMCCC1/var+" EXACT PRO-short-label [PRO:DNx]
is_a: PR:Q96RQ3 ! methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000026111
name: methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial sequence variant MCCA D532H (human)
def: "A methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial sequence variant (human) that lacks the region encoded by exon 13 and shifts the reading frame due to the missense mutation D532H altering the splice site at the position equivalent to Asp-532 of the amino acid sequence represented by UniProtKB:Q96RQ3." [PMID:11181649, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence. Note: The mutation indicated also results in its removal after splicing. Thus, despite the designation used in the publication (D532H), there is no position 532 in the final protein.
synonym: "hMCCC1/var:MCCA D532H" EXACT PRO-short-label [PRO:DNx]
is_a: PR:000026110 ! methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000048350
name: methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial, transit peptide removed biotinylated 1 (human)
def: "A methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial (human) that has had the transit peptide removed and has been post-translationally modified to include biotinylated lysine at position 681 of the amino acid sequence represented by UniProtKB:Q96RQ3. UniProtKB:Q96RQ3, 42-725, Lys-681, MOD:00126." [PRO:DNx, Reactome:R-HSA-3323154, Reactome:R-HSA-70748]
comment: Category=organism-modification.
synonym: "hMCCC1/TransPep-/Btn:1" EXACT PRO-short-label [PRO:DNx]
synonym: "PRO_0000002833, Lys-681, MOD:00126" EXACT PRO-proteoform-ftid [PRO:DNx]
synonym: "UniProtKB:Q96RQ3, 42-725, Lys-681, MOD:00126" EXACT PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-70748 "PR:000048350 located_in GO:0005759"
xref: Reactome:R-HSA-3323154 "PR:000048350 located_in GO:0005829"
is_a: PR:Q96RQ3 ! methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial (human)
relationship: has_part MOD:00126 ! N6-biotinyl-L-lysine
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens
relationship: lacks_part SO:0000725 ! transit_peptide

[Term]
id: PR:000048349
name: methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial, transit peptide removed form (human)
def: "A methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial (human) that has had the transit peptide removed. UniProtKB:Q96RQ3, 42-725." [PRO:DNx, Reactome:R-HSA-3323164]
comment: Category=organism-modification.
synonym: "PRO_0000002833" EXACT PRO-proteoform-ftid [PRO:DNx]
synonym: "hMCCC1/TransPep-" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:Q96RQ3, 42-725" EXACT PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-3323164 "PR:000048349 located_in GO:0005829"
intersection_of: PR:Q96RQ3 ! methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial (human)
intersection_of: lacks_part SO:0000725 ! transit_peptide
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:Q96RQ3-1
name: methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial isoform 1 (human)
def: "A methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial isoform 1 that is encoded in the genome of human." [PMID:11401427, PRO:CNA]
comment: Category=organism-sequence.
synonym: "hMCCC1/iso:1" EXACT PRO-short-label [PRO:DNx]
xref: UniProtKB:Q96RQ3-1
intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens
intersection_of: PR:000026106 ! methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial isoform 1