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Protein Ontology report - methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial (human)
PR:Q96RQ3 -
http://purl.obolibrary.org/obo/PR_Q96RQ3
Protein Forms
Annotations
Ontology Information
Show OBO stanza
/
GPI
PRO ID
PR:Q96RQ3
PRO name
methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial (human)
Synonyms
PRO-Short-label
:
EXACT:
hMCCC1
Gene-based
:
RELATED:
MCCA | MCCC1
Other
:
EXACT:
3-methylcrotonyl-CoA carboxylase 1 (human) | 3-methylcrotonyl-CoA carboxylase biotin-containing subunit (human) | 3-methylcrotonyl-CoA:carbon dioxide ligase subunit alpha (human) | MCCase subunit alpha (human)
Definition
"A methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial that is encoded in the genome of human. The human MCCC1 gene contains 19 exons, and maps to the chromosomal location 3q25-27." [
PMID:11170888
, PRO:CNA]
PRO Category
organism-gene
Parent
PR:000010233
methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial
PR:000029067
Homo sapiens protein
Gene Template
HGNC:6936
MCCC1 (human)
Taxon
NCBITaxon:9606
Homo sapiens
Terms by PRO Category
Organism-Independent
Organism-Specific
Category
Number of Terms
Category
Number of Terms
Gene
0
Organism-Gene
1
Sequence
0
Organism-Sequence
6
Modification
0
Organism-Modification
4
Term Hierarchy
Visualization
DAG:
OLS:
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Related Cross References
Db identifiers
UniProtKB:Q96RQ3
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Protein Forms
Switch to
Extended View
Category
PRO Form Name
Ann.
Has Annotation?
Comp.
In Complex?
organism-gene
PR:Q96RQ3
methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial (human), hMCCC1
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
organism-sequence
PR:Q96RQ3-1
methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial isoform 1 (human), hMCCC1/iso:1
organism-modification
PR:000048349
methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial, transit peptide removed form (human), hMCCC1/TransPep-
organism-modification
PR:000048350
methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial, transit peptide removed biotinylated 1 (human), hMCCC1/TransPep-/Btn:1
organism-modification
PR:000068018
methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial phosphorylated 1 (human), hMCCC1/Phos:1
organism-modification
PR:000068242
methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial cysteinylated 1 (human), hMCCC1/Cyst:1
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Functional Annotation (PRO-centric view)
Switch to
GO Centric View
PRO Term
GO Annotation
Evidence
PR:000026111
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]
associated_with_disease_progression
DO:0050710
3-methylcrotonyl-CoA carboxylase deficiency
PMID:11181649
located_in
SO:0001630
splice_region_variant
PMID:11181649
PR:000026112
hMCCC1/var:MCCA L437P
UniProtKB:Q96RQ3, Leu-437, CHEBI:50342
"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]
associated_with_disease_progression
DO:0050710
3-methylcrotonyl-CoA carboxylase deficiency
PMID:11181649
located_in
SO:0001559
polypeptide_loss_of_function_variant
PMID:11181649
PR:000026113
hMCCC1/var:MCCA R385S
UniProtKB:Q96RQ3, Arg-385, CHEBI:29999
"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]
associated_with_disease_progression
DO:0050710
3-methylcrotonyl-CoA carboxylase deficiency
PMID:11181649
located_in
SO:0001559
polypeptide_loss_of_function_variant
PMID:11181649
PR:000026114
hMCCC1/var:MCCA A289V
UniProtKB:Q96RQ3, Ala-289, CHEBI:30015
"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]
associated_with_disease_progression
DO:0050710
3-methylcrotonyl-CoA carboxylase deficiency
PMID:11181649
located_in
SO:0001559
polypeptide_loss_of_function_variant
PMID:11181649
