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Protein Ontology report - methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial sequence variant (human)
PR:000026110 - http://purl.obolibrary.org/obo/PR_000026110
 
  Protein Forms  Annotations      
Ontology Information Show OBO stanza / GPI
  PRO ID
PR:000026110   
  PRO namemethylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial sequence variant (human) 
  Synonyms
PRO-Short-label: EXACT:hMCCC1/var+
  Definition"A methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial (human) that has at least one amino acid residue that differs from the corresponding residue found in another methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial (human) when such a difference arises as the result of genetic differences, i.e., different alleles of methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial (human). Operationally, this means the sequence representation of the methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial (human) has at least one amino acid residue that differs from the equivalent residue found in the sequence represented by UniProtKB:Q96RQ3-1." [PRO:CNA] 
  PRO Categoryorganism-sequence 
  ParentPR:Q96RQ3 methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial (human)
  TaxonNCBITaxon:9606 Homo sapiens
  Terms by PRO Category
Organism-Independent Organism-Specific
         Category          Number of Terms          Category          Number of Terms
         Sequence0                                                  Organism-Sequence 5                                        
         Modification0                                                  Organism-Modification 0                                        
  Term Hierarchy
  Visualization
DAG: OLS:
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Protein Forms  Switch to Extended View   

Category  
PRO Form Name
Short Name
Ann. Has Annotation?

comp. In Complex?
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
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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