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Aliases & Descriptions for PCCB
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| DKFZp451E113 2 | | EC 6.4.1.3 3 |
| | | Descriptions |
|---|
| PCCase subunit beta 2, 3 | | Propanoyl-CoA:carbon dioxide ligase subunit beta 2, 3 | | propionyl Coenzyme A carboxylase, beta polypeptide 2 |
|
| | Search outside databases for aliases for PCCB genePrevious GC identifers: GC03U990060 GC03P136720 GC03P137250 GC03P137290 |
Summaries for PCCB(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for PCCB: The protein encoded by this gene is a subunit of the propionyl-CoA carboxylase (PCC) enzyme, which is involved in the catabolism of propionyl-CoA. PCC is a mitochondrial enzyme that probably acts as a dodecamer of six alpha subunits and six beta subunits. This gene encodes the beta subunit of PCC. Defects in this gene are a cause of propionic acidemia type II (PA-2). [provided by RefSeq]
|
Genomic Location for PCCB
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the PCCB gene 
Entrez Gene cytogenetic band: 3q21-q22 Ensembl cytogenetic band: 3q22.3 HGNC cytogenetic band: 3q21-q22PCCB Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 3 GeneLoc Exon Structure GeneLoc location for GC03P137451:
(about GC identifiers)
Start:
|
137,451,857 bp from pter |
End:
|
137,531,701 bp from pter |
Size:
|
79,845 bases |
Orientation:
|
plus strand |
RefSeq DNA sequence:- NC_000003.10 NT_005612.15
| Proteins for PCCB
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: PCCB_HUMAN, P05166 (See
protein sequence)Recommended Name: Propionyl-CoA carboxylase beta chain, mitochondrial precursor Size: 539 amino acids; 58216 Da
Subunit: Probably a dodecamer composed of six biotin-containing alpha subunits and six beta subunits
Subcellular location: Mitochondrion matrix
Secondary accessions: Q16813 Q96CX0Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_000523.2
ENSEMBL proteins: ENSP00000251654
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
2 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for PCCB: Assays for PCCB: | Protein
Domains/ Families for PCCB(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry P05166
ProtoNet protein and cluster: P05166 1 Blocks protein family: IPB000022 Carboxyl transferase family
UniProtKB/Swiss-Prot: PCCB_HUMAN, P05166Similarity: Belongs to the accD/PCCB familySimilarity: Contains 1 carboxyltransferase domain | Gene Function for PCCB
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000532
Applied Biosystems Silencer® siRNAs for PCCB
Sigma-Aldrich siRNA and siRNA Panels for PCCB  Sigma-Aldrich shRNA for PCCB  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000532                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000532                                  untagged cDNA clones in CMV expression vector (see all 2): NM_000532 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_000532
UniProtKB/Swiss-Prot: PCCB_HUMAN, P05166Catalytic activity: ATP + propanoyl-CoA + HCO(3)(-) = ADP + phosphate + (S)-methylmalonyl-CoAEnzyme Number (IUBMB): EC 6.4.1.3 Genatlas biochemistry entry for PCCB:propionyl-CoA carboxylase,beta polypeptide,biotin-dependent,mitochondrial conversion of propionyl CoA TO methylmalonyl CoA,branched chain valine,isoleucine catabolism,energy pathway2 Gene Ontology (GO) molecular function terms (links to tree view): About this table | Pathways & Interactions for PCCB
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
| 3 Sigma-Aldrich "Your Favorite Gene" Pathways for PCCB (Your Favorite Gene powered by Ingenuity) 
UniProtKB/Swiss-Prot: PCCB_HUMAN, P05166Pathway: Metabolic intermediate metabolism; propionyl-CoA degradation; succinyl-CoA from propionyl-CoA: step 1/3 5/16 Interacting proteins for PCCB (ENSP000002516543 P051662) via UniProtKB, MINT, and/or STRING (see all 16
)About this table
|
Drugs & Compounds for PCCB(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
Browse Tocris compounds for PCCB 2 Novoseek chemical compound relationships for PCCB gene
About this table
|
Transcripts for PCCB(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000532
Sigma-Aldrich siRNA and siRNA Panels for PCCB  Sigma-Aldrich shRNA for PCCB  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_000532 REFSEQ mRNAs for PCCB gene: NM_000532.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000532               OriGene GFP tagged cDNA clone in CMV expression vector: NM_000532                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000532                                  untagged cDNA clones in CMV expression vector (see all 2): NM_000532  Additional cDNA sequence: AB209009.1 AF217984.1 AF251189.1 AF251191.1 AK130359.1 AK225215.1 AK225733.1 AK295312.1 AK302522.1 AK303079.1 AL831978.2 BC005909.1 BC013768.1 BC018013.1 BC053661.1 CR601703.1 CR603056.1 CR607835.1 CR609162.1 CR614392.1 CR618864.1 CR621266.1 CR624803.1 M13573.1 S67325.1 X73424.1 24/28 DOTS entries (see all 28
): DT.415386 DT.95335905 DT.101964909 DT.92441646 DT.95283426 DT.101984715 DT.101984718 DT.97865771 DT.120900467 DT.120900469 DT.101984719 DT.75185376 DT.100045524 DT.97811438 DT.100720585 DT.116168 DT.92441652 DT.95283416 DT.95283428 DT.100045521 DT.95283423 DT.95283427 DT.95317646 DT.100864986 24/272 AceView cDNA sequences (see all 272
):AU119871 BM741634 M13573 BQ646566 BQ343596 AI559324 CB159480 CR603056 BP348752 BF211289 BM743274 BG563542 BM558262 BI908664 BU849561 AA677084 BI831455 BM712844 AI924286 CR624803 BF982603 BG287632 AA680161 BE408707
highest scoring ESTs for PCCB:X73424 AA147098 AA223335 AA419435 AA459122 AA506483 AA507321 AA553631 AA639000 AA680161 Unigene Cluster for PCCB: Propionyl Coenzyme A carboxylase, beta polypeptide Hs.63788 [show with all ESTs]Unigene Representative Sequence: AB209009
GeneLoc Exon Structure
5/16 Alternative Splicing Database (ASD) splice patterns (SP) for PCCB (see all 16
)
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9a | · | 9b | · | 9c | · | 9d | ^ | 10 | ^ | 11a | · | 11b | ^ | 12 | ^ | 13a | · | 13b | ^ | 14 | ^ | 15 | ^ | |
| SP1: | |   | |   | |   | |   | - |   | - |   | |   | |   | |   | |   | - |   | - |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | - |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | |   | - |   | - |   | |   | |   | |   | |   | - |   | - |   | - |   | |   | |   | |   | |   | |   | - |   | |   | |   | - |   | |   | |   | |   | |   | |
| SP3: | |   | |   | |   | |   | - |   | - |   | |   | |   | |   | |   | - |   | - |   | - |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |
| SP4: | |   | |   | |   | |   | - |   | - |   | |   | |   | |   | |   | - |   | - |   | - |   | |   | |   | |   | |   | |   | - |   | |   | |   | - |   | |   | |   | |   | |   | |
| SP5: | |   | |   | |   | |   | - |   | - |   | |   | |   | - |   | - |   | - |   | - |   | - |   | |   | |   | |   | |   | |   | - |   | |   | |   | - |   | |   | |   | |   | |   |
| ExUns: | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | |
| SP1: | |   | - |   | |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | |   | |   | |   | |   | |
| SP3: | |   | - |   | |   | |   | |   | |   | |   | |
| SP4: | |   | - |   | |   | |   | |   | |   | |   | |
| SP5: | |   | - |   | |   | |   | |   | |   | |   |
About this scheme
ECgene alternative splicing isoforms for PCCB
1 Ensembl transcript including schematic representation: ENST00000251654
|
Expression for PCCB
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| PCCB expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for PCCB
1 / 2 / 3 4 probe-sets matching PCCB gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: AAACCTGGGA
SOURCE GeneReport for Unigene cluster: Hs.63788
Expression variation in blood from EXPOLDB for PCCB |
Orthologs for PCCB
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for PCCB gene from 5/12 species (see all 12
)
About this table Species with no ortholog for PCCB
ENSEMBL Gene Tree for PCCB | Paralogs for PCCB(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for PCCB gene
- MCCC22
|
SNPs/Variants for PCCB(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for PCCB (up to first 250kb)
|
Disorders & Mutations for PCCB
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 232050 disorders: 606054 UniProtKB/Swiss-Prot: PCCB_HUMAN, P05166
Defects in PCCB are the cause of propionic acidemia type II (PA-2) [MIM:606054]. PA-2 is a life-threatening disease characterized by episodic vomiting, lethargy and ketosis, neutropenia, periodic thrombocytopenia, hypogammaglobulinemia, developmental retardation, and intolerance to protein3 Novoseek disease relationships for PCCB gene
About this table
Genatlas disease: PCCB hyperglycinemia,ketotic,propionic acidemia B Human Gene Mutation Database: PCCB
|
Medical News for PCCB(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for PCCB (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 17/58 PubMed articles for PCCB gene (see all 58
):- Overview of mutations in the PCCA and PCCB genes causing propionic acidemia. (PubMed id 10502773)1, 3, 4 Ugarte M.... Gravel R.A. (1999)
- Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia. (PubMed id 15059621)1, 3, 4 Yang X.... Ohura T. (2004)
- Effect of PCCB gene mutations on the heteromeric and homomeric assembly of propionyl-CoA carboxylase. (PubMed id 11749052)1, 3, 4 Muro S.... Ugarte M. (2001)
- Propionic acidemia: identification of twenty-four novel mutations in Europe and North America. (PubMed id 12559849)1, 3, 4 Perez B.... Ugarte M. (2003)
- Identification of novel mutations in the PCCB gene in European propionic acidemia patients. (PubMed id 10447268)1, 3, 4 Muro S.... Ugarte M. (1999)
- Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients. (PubMed id 9683601)1, 3, 4 Rodriguez-Pombo P.... Ugarte M. (1998)
- Correction of the metabolic defect in propionic acidemia fibroblasts by microinjection of a full-length cDNA or RNA transcript encoding the propionyl-CoA carboxylase beta subunit. (PubMed id 8188292)1, 3, 4 Lamhonwah A.-M.... Gravel R.A. (1994)
- Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications. (PubMed id 12189489)1, 3, 4 Yorifuji T.... Nakahata T. (2002)
- Three independent mutations in the same exon of the PCCB gene: differences between Caucasian and Japanese propionic acidaemia. (PubMed id 8411997)1, 3, 4 Tahara T.... Fenton W.A. (1993)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)3, 4 Gerhard D.S....Malek J. (2004)
- Isolation of cDNA clones coding for the alpha and beta chains of human propionyl-CoA carboxylase: chromosomal assignments and DNA polymorphisms associated with PCCA and PCCB genes. (PubMed id 3460076)3, 4 Lamhonwah A.-M.... Gravel R.A. (1986)
- Transfection screening for defects in the PCCA and PCCB genes encoding propionyl-CoA carboxylase subunits. (PubMed id 11914040)1 Rodriguez-Pombo P....Rodriguez-Pombo P. (2002)
- Three novel splice mutations in the PCCA gene causing identical exon skipping in propionic acidemia patients. (PubMed id 9385377)1 Richard E....Ugarte M. (1997)
- High frequency of large genomic deletions in the PCCA gene causing propionic acidemia. (PubMed id 19157943)1 Desviat L.R....Ugarte M. (2009)
- Functional characterization of PCCA mutations causing propionic acidemia. (PubMed id 12385775)1 Clavero S....Desviat L.R. (2002)
- Structure of the PCCA gene and distribution of mutations causing propionic acidemia. (PubMed id 11592820)1 Campeau E....Gravel R.A. (2001)
- Detection of a normally rare transcript in propionic acidemia patients with mRNA destabilizing mutations in the PCCA gene. (PubMed id 9887338)1 Campeau E....Gravel R.A. (1999)
|
Search for PCCB
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing PCCB
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing PCCB
(According to HUGE)
About This Section
| -- |
Specialized Databases showing PCCB(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| GeneReviews | http://www.genetests.org/query?gene=PCCB |
|
| | | About This Section
| --
| Services for PCCB(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for PCCB:

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Incremental update: 13 Oct 2009
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