[Term]
id: PR:Q9HCC0-1
name: methylcrotonoyl-CoA carboxylase beta chain, mitochondrial isoform 1 (human)
def: "A methylcrotonoyl-CoA carboxylase beta chain, mitochondrial isoform 1 that is encoded in the genome of human." [PRO:CNA]
comment: Category=organism-sequence.
synonym: "hMCCC2/iso:1" EXACT PRO-short-label [PRO:DNx]
xref: UniProtKB:Q9HCC0-1
intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens
intersection_of: PR:000026108 ! methylcrotonoyl-CoA carboxylase beta chain, mitochondrial isoform 1

[Term]
id: PR:000010234
name: methylcrotonoyl-CoA carboxylase beta chain, mitochondrial
def: "A protein that is a translation product of the human MCCC2 gene or a 1:1 ortholog thereof." [PRO:DNx]
comment: Category=gene.
synonym: "MCCB" RELATED Gene-based []
synonym: "MCCC2" EXACT PRO-short-label [PRO:DNx]
synonym: "MCCase subunit beta" EXACT []
synonym: "3-methylcrotonyl-CoA carboxylase 2" EXACT []
synonym: "3-methylcrotonyl-CoA:carbon dioxide ligase subunit beta" EXACT []
synonym: "3-methylcrotonyl-CoA carboxylase non-biotin-containing subunit" EXACT []
is_a: PR:000000001 ! protein

[Term]
id: PR:Q9HCC0
name: methylcrotonoyl-CoA carboxylase beta chain, mitochondrial (human)
def: "A methylcrotonoyl-CoA carboxylase beta chain, mitochondrial that is encoded in the genome of human. The human MCCC2 gene contains 17 exons, and maps to the chromosomal location 5q12-q13." [PMID:11170888, PRO:CNA]
comment: Category=organism-gene.
synonym: "MCCB" RELATED Gene-based [UniProtKB:Q9HCC0]
synonym: "MCCC2" RELATED Gene-based [UniProtKB:Q9HCC0]
synonym: "hMCCC2" EXACT PRO-short-label [PRO:DNx]
synonym: "MCCase subunit beta (human)" EXACT [UniProtKB:Q9HCC0]
synonym: "3-methylcrotonyl-CoA carboxylase 2 (human)" EXACT [UniProtKB:Q9HCC0]
synonym: "3-methylcrotonyl-CoA:carbon dioxide ligase subunit beta (human)" EXACT [UniProtKB:Q9HCC0]
synonym: "3-methylcrotonyl-CoA carboxylase non-biotin-containing subunit (human)" EXACT [UniProtKB:Q9HCC0]
xref: UniProtKB:Q9HCC0
intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens
intersection_of: PR:000010234 ! methylcrotonoyl-CoA carboxylase beta chain, mitochondrial
relationship: has_gene_template HGNC:6937 ! MCCC2 (human)

[Term]
id: PR:000026118
name: methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant MCCB S173L (human)
def: "A methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant (human) that has a Leu residue at the position equivalent to Ser-173 of the amino acid sequence represented by UniProtKB:Q9HCC0-1. Example: UniProtKB:Q9HCC0-1, Ser-173, CHEBI:30006." [PMID:11181649, PRO:CNA]
comment: Category=organism-sequence.
synonym: "hMCCC2/var:MCCB S173L" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:Q9HCC0-1, Ser-173, CHEBI:30006" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_012795
is_a: PR:000026117 ! methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000026119
name: methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant MCCB E99Q (human)
def: "A methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant (human) that has a Gln residue at the position equivalent to Glu-99 of the amino acid sequence represented by UniProtKB:Q9HCC0-1. Example: UniProtKB:Q9HCC0-1, Glu-99, CHEBI:30011." [PMID:11181649, PRO:CNA]
comment: Category=organism-sequence.
synonym: "hMCCC2/var:MCCB E99Q" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:Q9HCC0-1, Glu-99, CHEBI:30011" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_012792
is_a: PR:000026117 ! methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000026117
name: methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant (human)
def: "A methylcrotonoyl-CoA carboxylase beta chain, mitochondrial (human) that has at least one amino acid residue that differs from the corresponding residue found in another methylcrotonoyl-CoA carboxylase beta chain, mitochondrial (human) when such a difference arises as the result of genetic differences, i.e., different alleles of methylcrotonoyl-CoA carboxylase beta chain, mitochondrial (human). Operationally, this means the sequence representation of the methylcrotonoyl-CoA carboxylase beta chain, mitochondrial(human) has at least one amino acid residue that differs from the corresponding residue found in the sequence represented by UniProtKB:Q9HCC0-1." [PRO:CNA]
comment: Category=organism-sequence.
synonym: "hMCCC2/var+" EXACT PRO-short-label [PRO:DNx]
is_a: PR:Q9HCC0 ! methylcrotonoyl-CoA carboxylase beta chain, mitochondrial (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:Q9HCC0-2
name: methylcrotonoyl-CoA carboxylase beta chain, mitochondrial isoform h2 (human)
def: "A methylcrotonoyl-CoA carboxylase beta chain, mitochondrial (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9HCC0-2." [PRO:DNx, UniProtKB:Q9HCC0]
comment: Category=organism-sequence.
synonym: "hMCCC2/iso:h2" EXACT PRO-short-label [PRO:DNx]
xref: UniProtKB:Q9HCC0-2
is_a: PR:Q9HCC0 ! methylcrotonoyl-CoA carboxylase beta chain, mitochondrial (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000026123
name: methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant MCCB IVS3+5G->T (human)
def: "A methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant (human) that results from a nucleotide change leading to skipping of exon 3, frameshift, and early truncation of the amino acid sequence represented by UniProtKB:Q9HCC0-1." [PMID:11170888, PRO:CNA]
comment: Category=organism-sequence.
synonym: "hMCCC2/var:MCCB IVS3+5G->T" EXACT PRO-short-label [PRO:DNx]
is_a: PR:000026117 ! methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000026122
name: methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant D172fs (human)
def: "A methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant (human) that is a truncated variant due to a frameshift caused by nucleotide insertion. The sequence in this variant is truncated after residue Asp-172 of the amino acid sequence represented by UniProtKB:Q9HCC0. UniProtKB:Q9HCC0, 1-172." [PMID:11170888, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence.
synonym: "hMCCC2/var:D172fs" EXACT PRO-short-label [PRO:DNx]
synonym: "MCCB D172fs (human)" EXACT [PRO:DAN]
synonym: "MCC beta D172fs (human)" EXACT [PRO:DAN]
synonym: "UniProtKB:Q9HCC0, 1-172" EXACT PRO-proteoform-std [PRO:DAN]
synonym: "UniProtKB:Q9HCC0-1, 1-172" NARROW PRO-proteoform-std [PRO:DAN]
is_a: PR:000026117 ! methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000026121
name: methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant MCCB I437V (human)
def: "A methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant (human) that lacks the region encoded by the last 64 bp in exon 14 due to the missense mutation I437V introducing a splice site at the position equivalent to Ile-437 of the amino acid sequence represented by UniProtKB:Q9HCC0-1." [PMID:11181649, PRO:CNA]
comment: Category=organism-sequence. Cannot map to UniProtKB_VAR:VAR_012801 because the sequence shows only amino acid change, while the rest of the sequence remains the same.
synonym: "hMCCC2/var:MCCB I437V" EXACT PRO-short-label [PRO:DNx]
is_a: PR:000026117 ! methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000026120
name: methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant MCCB V339M (human)
def: "A methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant (human) that has a Met residue at the position equivalent to Val-339 of the amino acid sequence represented by UniProtKB:Q9HCC0-1. Example: UniProtKB:Q9HCC0-1, Val-339, CHEBI:16044." [PMID:11181649, PRO:CNA]
comment: Category=organism-sequence.
synonym: "hMCCC2/var:MCCB V339M" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:Q9HCC0-1, Val-339, CHEBI:16044" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_012800
is_a: PR:000026117 ! methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000035939
name: methylcrotonoyl-CoA carboxylase beta chain, mitochondrial, transit peptide removed form (human)
def: "A methylcrotonoyl-CoA carboxylase beta chain, mitochondrial, transit peptide removed form in human. Example: UniProtKB:Q9HCC0-1, 23-563." [PMID:16023992, Reactome:R-HSA-3323134, Reactome:R-HSA-70769]
comment: Category=organism-modification.
synonym: "PRO_0000000291" NARROW PRO-proteoform-ftid [PRO:DNx]
synonym: "hMCCC2/TransPep-" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:Q9HCC0-1, 23-563" NARROW PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-70769 "PR:000035939 located_in GO:0005759"
xref: Reactome:R-HSA-3323134 "PR:000035939 located_in GO:0005829"
intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens
intersection_of: PR:000035938 ! methylcrotonoyl-CoA carboxylase beta chain, mitochondrial, transit peptide removed form