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Protein Ontology Report - hMCCC1

PR:Q96RQ3 - http://purl.obolibrary.org/obo/PR_Q96RQ3
This page represents a class of proteins encompassing all the protein products of the MCCC1 gene in human .
Ontology Information
PRO ID PR:Q96RQ3 Show OBO stanza / PAF
PRO name methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial (human)
Synonyms
PRO-short-label: hMCCC1
EXACT: 3-methylcrotonyl-CoA carboxylase 1 (human); 3-methylcrotonyl-CoA carboxylase biotin-containing subunit (human); 3-methylcrotonyl-CoA:carbon dioxide ligase subunit alpha (human); MCCase subunit alpha (human)
Gene-based: MCCA; MCCC1
Definition 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]
PRO Category organism-gene
Parent PR:000010233 methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial
Terms by PRO Category Retrieve All terms OBO Stanza / PAF
Organism-Specific
Category Number of Terms
organism-gene 1
organism-sequence 6
organism-modification 2
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

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

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