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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 Compact View   

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

comp. In Complex?
organism-gene


PR:Q9HCC0
methylcrotonoyl-CoA carboxylase beta chain, mitochondrial (human)
hMCCC2
"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]

organism-sequence


PR:000026117
methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant (human)
hMCCC2/var+
"A methylcrotonoyl-CoA carboxylase beta chain, mitochondrial (human) that has at least one amino acid residue that differs from the corresponding residue found in another methylcrotonoyl-CoA carboxylase beta chain, mitochondrial (human) when such a difference arises as the result of genetic differences, i.e., different alleles of methylcrotonoyl-CoA carboxylase beta chain, mitochondrial (human). Operationally, this means the sequence representation of the methylcrotonoyl-CoA carboxylase beta chain, mitochondrial(human) has at least one amino acid residue that differs from the corresponding residue found in the sequence represented by UniProtKB:Q9HCC0-1." [PRO:CNA]

organism-sequence


PR:000026118
methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant MCCB S173L (human)
hMCCC2/var:MCCB S173L
"A methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant (human) that has a Leu residue at the position equivalent to Ser-173 of the amino acid sequence represented by UniProtKB:Q9HCC0-1. Example: UniProtKB:Q9HCC0-1, Ser-173, CHEBI:30006." [PMID:11181649, PRO:CNA]
Yes
organism-sequence


PR:000026119
methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant MCCB E99Q (human)
hMCCC2/var:MCCB E99Q
"A methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant (human) that has a Gln residue at the position equivalent to Glu-99 of the amino acid sequence represented by UniProtKB:Q9HCC0-1. Example: UniProtKB:Q9HCC0-1, Glu-99, CHEBI:30011." [PMID:11181649, PRO:CNA]
Yes
organism-sequence


PR:000026120
methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant MCCB V339M (human)
hMCCC2/var:MCCB V339M
"A methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant (human) that has a Met residue at the position equivalent to Val-339 of the amino acid sequence represented by UniProtKB:Q9HCC0-1. Example: UniProtKB:Q9HCC0-1, Val-339, CHEBI:16044." [PMID:11181649, PRO:CNA]
Yes
organism-sequence


PR:000026121
methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant MCCB I437V (human)
hMCCC2/var:MCCB I437V
"A methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant (human) that lacks the region encoded by the last 64 bp in exon 14 due to the missense mutation I437V introducing a splice site at the position equivalent to Ile-437 of the amino acid sequence represented by UniProtKB:Q9HCC0-1." [PMID:11181649, PRO:CNA]
Yes
organism-sequence


PR:000026122
methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant D172fs (human)
hMCCC2/var:D172fs
"A methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant (human) that is a truncated variant due to a frameshift caused by nucleotide insertion. The sequence in this variant is truncated after residue Asp-172 of the amino acid sequence represented by UniProtKB:Q9HCC0. UniProtKB:Q9HCC0, 1-172." [PMID:11170888, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000026123
methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant MCCB IVS3+5G->T (human)
hMCCC2/var:MCCB IVS3+5G->T
"A methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant (human) that results from a nucleotide change leading to skipping of exon 3, frameshift, and early truncation of the amino acid sequence represented by UniProtKB:Q9HCC0-1." [PMID:11170888, PRO:CNA]
Yes
organism-sequence


PR:Q9HCC0-1
methylcrotonoyl-CoA carboxylase beta chain, mitochondrial isoform 1 (human)
hMCCC2/iso:1
"A methylcrotonoyl-CoA carboxylase beta chain, mitochondrial isoform 1 that is encoded in the genome of human." [PRO:CNA]

organism-sequence


PR:Q9HCC0-2
methylcrotonoyl-CoA carboxylase beta chain, mitochondrial isoform h2 (human)
hMCCC2/iso:h2
"A methylcrotonoyl-CoA carboxylase beta chain, mitochondrial (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9HCC0-2." [PRO:DNx, UniProtKB:Q9HCC0]

organism-modification


PR:000035939
methylcrotonoyl-CoA carboxylase beta chain, mitochondrial, transit peptide removed form (human)
hMCCC2/TransPep-
"A methylcrotonoyl-CoA carboxylase beta chain, mitochondrial, transit peptide removed form in human. Example: UniProtKB:Q9HCC0-1, 23-563." [PMID:16023992, Reactome:R-HSA-3323134, Reactome:R-HSA-70769]

organism-modification


PR:000067781
methylcrotonoyl-CoA carboxylase beta chain, mitochondrial cysteinylated 1 (human)
hMCCC2/Cyst:1
"A methylcrotonoyl-CoA carboxylase beta chain, mitochondrial (human) that has been cysteinylated on the residue at the position equivalent to Cys-167 of the amino acid sequence represented by UniProtKB:Q9HCC0-1. Example: UniProtKB:Q9HCC0-1, Cys-167, MOD:00765." [IEDB_epitope:1583338, PRO:DNx]

organism-modification


PR:000067879
methylcrotonoyl-CoA carboxylase beta chain, mitochondrial deaminated 1 (human)
hMCCC2/Deam:1
"A methylcrotonoyl-CoA carboxylase beta chain, mitochondrial (human) that has been deaminated on the residue at the position equivalent to Asn-205 of the amino acid sequence represented by UniProtKB:Q9HCC0-1. Example: UniProtKB:Q9HCC0-1, Asn-205, MOD:00684." [IEDB_epitope:1581627, PRO:DNx]

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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