InnateDB Protein
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IDBP-57836.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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PCCB
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Protein Name
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propionyl CoA carboxylase, beta polypeptide
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000251654
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InnateDB Gene
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IDBG-57834 (PCCB)
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Protein Structure
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Function |
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Subcellular Localization |
Mitochondrion matrix {ECO:0000269PubMed:16023992}.
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Disease Associations |
Propionic acidemia type II (PA-2) [MIM:606054]: Life- threatening disease characterized by episodic vomiting, lethargy and ketosis, neutropenia, periodic thrombocytopenia, hypogammaglobulinemia, developmental retardation, and intolerance to protein. {ECO:0000269PubMed:10447268, ECO:0000269PubMed:12189489, ECO:0000269PubMed:12559849, ECO:0000269PubMed:15059621, ECO:0000269PubMed:2154743, ECO:0000269PubMed:8411997, ECO:0000269PubMed:9683601}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 11 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
11
[view]
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Protein-Protein |
11
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR000022
Carboxyl transferase
IPR011762
Acetyl-coenzyme A carboxyltransferase, N-terminal
IPR011763
Acetyl-coenzyme A carboxyltransferase, C-terminal
IPR029045
ClpP/crotonase-like domain
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PFAM |
PF01039
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
P05166
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PhosphoSite |
PhosphoSite-P05166
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TrEMBL |
Q8WVH4
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UniProt Splice Variant |
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Entrez Gene |
5096
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UniGene |
Hs.736024
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RefSeq |
NP_000523
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HUGO |
HGNC:8654
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OMIM |
232050
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CCDS |
CCDS3089
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HPRD |
01982
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IMGT |
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EMBL |
AC069524
AJ006487
AJ006488
AJ006489
AJ006490
AJ006491
AJ006492
AJ006493
AJ006494
AJ006495
AJ006496
AJ006497
AJ006498
AJ006499
AK295312
BC013768
BC018013
BC053661
CH471052
M13573
M31167
M31169
S67325
X73424
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GenPept |
AAA60036
AAA60037
AAA60038
AAB28900
AAH13768
AAH18013
AAH53661
BAH12030
CAA07066
CAA51825
EAW79118
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