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Protein Ontology report - methylcrotonoyl-CoA carboxylase beta chain, mitochondrial (human)
PR:Q9HCC0 - http://purl.obolibrary.org/obo/PR_Q9HCC0
 
  Protein Forms  Annotations      
Ontology Information Show OBO stanza / GPI
  PRO ID
PR:Q9HCC0   
  PRO namemethylcrotonoyl-CoA carboxylase beta chain, mitochondrial (human) 
  Synonyms
PRO-Short-label: EXACT:hMCCC2
Gene-based: RELATED:MCCB | MCCC2
Other: EXACT:3-methylcrotonyl-CoA carboxylase 2 (human) | 3-methylcrotonyl-CoA carboxylase non-biotin-containing subunit (human) | 3-methylcrotonyl-CoA:carbon dioxide ligase subunit beta (human) | MCCase subunit beta (human)
  Definition"A methylcrotonoyl-CoA carboxylase beta chain, mitochondrial that is encoded in the genome of human. The human MCCC2 gene contains 17 exons, and maps to the chromosomal location 5q12-q13." [PMID:11170888, PRO:CNA] 
  PRO Categoryorganism-gene 
  ParentPR:000010234 methylcrotonoyl-CoA carboxylase beta chain, mitochondrial
PR:000029067 Homo sapiens protein
  Gene TemplateHGNC:6937 MCCC2 (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 9                                        
         Modification0                                                  Organism-Modification 3                                        
  Term Hierarchy
  Visualization
DAG: OLS:
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Related Cross References

  Db identifiers
UniProtKB:Q9HCC0
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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:Q9HCC0 methylcrotonoyl-CoA carboxylase beta chain, mitochondrial (human)
hMCCC2

organism-sequence


PR:000026117 methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant (human)
hMCCC2/var+

organism-sequence


PR:000026118 methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant MCCB S173L (human)
hMCCC2/var:MCCB S173L
Yes
organism-sequence


PR:000026119 methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant MCCB E99Q (human)
hMCCC2/var:MCCB E99Q
Yes
organism-sequence


PR:000026120 methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant MCCB V339M (human)
hMCCC2/var:MCCB V339M
Yes
organism-sequence


PR:000026121 methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant MCCB I437V (human)
hMCCC2/var:MCCB I437V
Yes
organism-sequence


PR:000026122 methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant D172fs (human)
hMCCC2/var:D172fs
Yes
organism-sequence


PR:000026123 methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant MCCB IVS3+5G->T (human)
hMCCC2/var:MCCB IVS3+5G->T
Yes
organism-sequence


PR:Q9HCC0-1 methylcrotonoyl-CoA carboxylase beta chain, mitochondrial isoform 1 (human)
hMCCC2/iso:1

organism-sequence


PR:Q9HCC0-2 methylcrotonoyl-CoA carboxylase beta chain, mitochondrial isoform h2 (human)
hMCCC2/iso:h2

organism-modification


PR:000035939 methylcrotonoyl-CoA carboxylase beta chain, mitochondrial, transit peptide removed form (human)
hMCCC2/TransPep-

organism-modification


PR:000067781 methylcrotonoyl-CoA carboxylase beta chain, mitochondrial cysteinylated 1 (human)
hMCCC2/Cyst:1

organism-modification


PR:000067879 methylcrotonoyl-CoA carboxylase beta chain, mitochondrial deaminated 1 (human)
hMCCC2/Deam:1

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Functional Annotation (PRO-centric view) Switch to GO Centric View   
PRO Term GO Annotation Evidence
PR:000026118 hMCCC2/var:MCCB S173L
Example: UniProtKB:Q9HCC0-1, Ser-173, CHEBI:30006		 associated_with_disease_progressionDO:0050710 3-methylcrotonyl-CoA carboxylase deficiency PMID:11181649
PR:000026119 hMCCC2/var:MCCB E99Q
Example: UniProtKB:Q9HCC0-1, Glu-99, CHEBI:30011		 associated_with_disease_progressionDO:0050710 3-methylcrotonyl-CoA carboxylase deficiency PMID:11181649
PR:000026120 hMCCC2/var:MCCB V339M
Example: UniProtKB:Q9HCC0-1, Val-339, CHEBI:16044		 associated_with_disease_progressionDO:0050710 3-methylcrotonyl-CoA carboxylase deficiency PMID:11181649
PR:000026121 hMCCC2/var:MCCB I437V associated_with_disease_progressionDO:0050710 3-methylcrotonyl-CoA carboxylase deficiency PMID:11181649
located_inSO:0001569 cryptic_splice_site_variant PMID:11181649
PR:000026122 hMCCC2/var:D172fs
UniProtKB:Q9HCC0, 1-172		 associated_with_disease_progressionDO:0050710 3-methylcrotonyl-CoA carboxylase deficiency PMID:11170888
PR:000026123 hMCCC2/var:MCCB IVS3+5G->T associated_with_disease_progressionDO:0050710 3-methylcrotonyl-CoA carboxylase deficiency PMID:11170888