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: EXACT: MCCC1 Gene-based: RELATED: MCCA Other: EXACT: 3-methylcrotonyl-CoA carboxylase 1 | 3-methylcrotonyl-CoA carboxylase biotin-containing subunit | 3-methylcrotonyl-CoA:carbon dioxide ligase subunit alpha | MCCase subunit alpha
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 Display Category: All All gene organism-gene sequence organism-sequence modification organism-modification
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 Centric View GO Centric View

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

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