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Protein Ontology report - methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant MCCB E99Q (human)
PR:000026119 -
http://purl.obolibrary.org/obo/PR_000026119
Annotations
Ontology Information
Show OBO stanza
/
PAF
/
GPI
PRO ID
PR:000026119
PRO name
methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant MCCB E99Q (human)
Synonyms
PRO-Short-label
:
EXACT:
hMCCC2/var:MCCB E99Q
PRO-proteoform-std
:
EXACT:
UniProtKB:Q9HCC0
, Glu-99,
CHEBI:30011
NARROW:
UniProtKB:Q9HCC0-1
, Glu-99,
CHEBI:30011
Definition
"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]
PRO Category
organism-sequence
Parent
PR:000026117
methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant (human)
Taxon
NCBITaxon:9606
Homo sapiens
Term Hierarchy
Visualization
DAG:
OLS:
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Related Cross References
Db identifiers
UniProtKB_VAR:VAR_012792
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Functional Annotation (PRO-centric view)
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GO Centric View
PRO Term
GO Annotation
Evidence
PR:000026119
hMCCC2/var:MCCB E99Q
Example: UniProtKB:Q9HCC0-1, Glu-99, CHEBI:30011
associated_with_disease_progression
DO:0050710
3-methylcrotonyl-CoA carboxylase deficiency
PMID:11181649