back to PRO homepage
  Home |   Browse |   Search |   SPARQL |   Statistics |   Download
 RACE-PRO
 PRO tracker
 Wiki
 PRO Consortium
 Publications
 Documentation

Protein Ontology Report - MCCC1

PR:000010233 - http://purl.obolibrary.org/obo/PR_000010233
Ontology Information
PRO ID PR:000010233 Show OBO stanza / PAF
PRO name methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial
Synonyms
PRO-short-label: MCCC1
EXACT: 3-methylcrotonyl-CoA carboxylase 1; 3-methylcrotonyl-CoA carboxylase biotin-containing subunit; 3-methylcrotonyl-CoA:carbon dioxide ligase subunit alpha; MCCase subunit alpha
Gene-based: MCCA
Definition A protein that is a translation product of the human MCCC1 gene or a 1:1 ortholog thereof. [PRO:DNx]
PRO Category gene
Parent PR:000000001 protein
Terms by PRO Category Retrieve All terms OBO Stanza / PAF
Organism-Independent Organism-Specific
Category Number of Terms Category Number of Terms
gene 1 organism-gene 5
sequence 1 organism-sequence 8
modification 2 organism-modification 2
union 0
Term Hierarchy Visualization DAG     OLS     Cytoscape

Interactive Sequence View Select/align proteoforms across species

Protein Forms
PRO ID & Category Annotation Complex Name Short Label Definition & Comment

MCCC1 forms found in complexes
MCCC1 Component Complexes
PR:Q99MR8 mMCCC1 PR:000025760 methylcrotonoyl-CoA carboxylase complex, mitochondrial (mouse)

Functional Annotation
PRO Term GO Annotation Evidence
PR:000026114
hMCCC1/var:MCCA A289V
Ala-289, CHEBI:30015
associated_with_disease_progression DOID:0050710 3-Methylcrotonyl-CoA carboxylase deficiency PMID:11181649
has_agent SO:0001559 polypeptide_loss_of_function_variant PMID:11181649
PR:000026112
hMCCC1/var:MCCA L437P
Leu-437, CHEBI:50342
associated_with_disease_progression DOID:0050710 3-Methylcrotonyl-CoA carboxylase deficiency PMID:11181649
has_agent SO:0001559 polypeptide_loss_of_function_variant PMID:11181649
PR:000026113
hMCCC1/var:MCCA R385S
Arg-385, CHEBI:29999
associated_with_disease_progression DOID:0050710 3-Methylcrotonyl-CoA carboxylase deficiency PMID:11181649
has_agent SO:0001559 polypeptide_loss_of_function_variant PMID:11181649
PR:000026111
hMCCC1/var:MCCA D532H
associated_with_disease_progression DOID:0050710 3-Methylcrotonyl-CoA carboxylase deficiency PMID:11181649
has_agent SO:0001630 splice_region_variant PMID:11181649

top