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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 Compact View   

Category  
PRO ID
Name
Short Name
Definition
Ann. Has Annotation?

comp. In Complex?
organism-sequence


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

organism-sequence


PR:000026111
methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial sequence variant MCCA D532H (human)
hMCCC1/var:MCCA D532H
"A methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial sequence variant (human) that lacks the region encoded by exon 13 and shifts the reading frame due to the missense mutation D532H altering the splice site at the position equivalent to Asp-532 of the amino acid sequence represented by UniProtKB:Q96RQ3." [PMID:11181649, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000026112
methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial sequence variant MCCA L437P (human)
hMCCC1/var:MCCA L437P
"A methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial sequence variant (human) that has a Pro residue at the position equivalent to Leu-437 of the amino acid sequence represented by UniProtKB:Q96RQ3. UniProtKB:Q96RQ3, Leu-437, CHEBI:50342." [PMID:11181649, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000026113
methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial sequence variant MCCA R385S (human)
hMCCC1/var:MCCA R385S
"A methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial sequence variant (human) that has a Ser residue at the position equivalent to Arg-385 of the amino acid sequence represented by UniProtKB:Q96RQ3. UniProtKB:Q96RQ3, Arg-385, CHEBI:29999." [PMID:11181649, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000026114
methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial sequence variant MCCA A289V (human)
hMCCC1/var:MCCA A289V
"A methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial sequence variant (human) that has a Val residue at the position equivalent to Ala-289 of the amino acid sequence represented by UniProtKB:Q96RQ3. UniProtKB:Q96RQ3, Ala-289, CHEBI:30015." [PMID:11181649, PRO:CNA, PRO:DAN]
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