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Protein Ontology report - methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial (human)
PR:Q96RQ3 - http://purl.obolibrary.org/obo/PR_Q96RQ3
 
  Protein Forms  Annotations      
Ontology Information Show OBO stanza / GPI
  PRO ID
PR:Q96RQ3   
  PRO namemethylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial (human) 
  Synonyms
PRO-Short-label: EXACT:hMCCC1
Gene-based: RELATED:MCCA | MCCC1
Other: 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)
  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 Categoryorganism-gene 
  ParentPR:000010233 methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial
PR:000029067 Homo sapiens protein
  Gene TemplateHGNC:6936 MCCC1 (human)
  TaxonNCBITaxon:9606 Homo sapiens
  Terms by PRO Category
Organism-Independent Organism-Specific
         Category          Number of Terms          Category          Number of Terms
         Gene0                                                  Organism-Gene 1                                        
         Sequence0                                                  Organism-Sequence 6                                        
         Modification0                                                  Organism-Modification 4                                        
  Term Hierarchy
  Visualization
DAG: OLS:
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Related Cross References

  Db identifiers
UniProtKB:Q96RQ3
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Protein Forms  Switch to Extended View   

Category  
PRO Form Name
Short Name
Ann. Has Annotation?

comp. In Complex?
organism-gene


PR:Q96RQ3 methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial (human)
hMCCC1

organism-sequence


PR:000026110 methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial sequence variant (human)
hMCCC1/var+

organism-sequence


PR:000026111 methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial sequence variant MCCA D532H (human)
hMCCC1/var:MCCA D532H
Yes
organism-sequence


PR:000026112 methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial sequence variant MCCA L437P (human)
hMCCC1/var:MCCA L437P
Yes
organism-sequence


PR:000026113 methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial sequence variant MCCA R385S (human)
hMCCC1/var:MCCA R385S
Yes
organism-sequence


PR:000026114 methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial sequence variant MCCA A289V (human)
hMCCC1/var:MCCA A289V
Yes
organism-sequence


PR:Q96RQ3-1 methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial isoform 1 (human)
hMCCC1/iso:1

organism-modification


PR:000048349 methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial, transit peptide removed form (human)
hMCCC1/TransPep-

organism-modification


PR:000048350 methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial, transit peptide removed biotinylated 1 (human)
hMCCC1/TransPep-/Btn:1

organism-modification


PR:000068018 methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial phosphorylated 1 (human)
hMCCC1/Phos:1

organism-modification


PR:000068242 methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial cysteinylated 1 (human)
hMCCC1/Cyst:1

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Functional Annotation (GO-centric view) Switch to PRO Centric View     

Disease Associated GO Term
Protein Forms & Complexes
Evidence
DO:0050710 3-methylcrotonyl-CoA carboxylase deficiencyPR:000026111 hMCCC1/var:MCCA D532H PMID:11181649
PR:000026112 hMCCC1/var:MCCA L437P PMID:11181649
PR:000026113 hMCCC1/var:MCCA R385S PMID:11181649
PR:000026114 hMCCC1/var:MCCA A289V PMID:11181649

Cellular Location GO Term
Protein Forms & Complexes
Evidence
SO:0001559 polypeptide_loss_of_function_variantPR:000026112 hMCCC1/var:MCCA L437P PMID:11181649
PR:000026113 hMCCC1/var:MCCA R385S PMID:11181649
PR:000026114 hMCCC1/var:MCCA A289V PMID:11181649
SO:0001630 splice_region_variantPR:000026111 hMCCC1/var:MCCA D532H PMID:11181649