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UniProtKB - P05166 (PCCB_HUMAN)

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Protein

Propionyl-CoA carboxylase beta chain, mitochondrial

Gene

PCCB

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Catalytic activityi

ATP + propanoyl-CoA + HCO3- = ADP + phosphate + (S)-methylmalonyl-CoA.

Pathwayi: propanoyl-CoA degradation

This protein is involved in step 1 of the subpathway that synthesizes succinyl-CoA from propanoyl-CoA.
Proteins known to be involved in the 3 steps of the subpathway in this organism are:
  1. Propionyl-CoA carboxylase alpha chain, mitochondrial (PCCA), Propionyl-CoA carboxylase beta chain, mitochondrial (PCCB)
  2. no protein annotated in this organism
  3. no protein annotated in this organism
This subpathway is part of the pathway propanoyl-CoA degradation, which is itself part of Metabolic intermediate metabolism.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes succinyl-CoA from propanoyl-CoA, the pathway propanoyl-CoA degradation and in Metabolic intermediate metabolism.

GO - Molecular functioni

  • ATP binding Source: UniProtKB-KW
  • CoA carboxylase activity Source: GO_Central
  • propionyl-CoA carboxylase activity Source: ProtInc
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionLigase
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000114054-MONOMER
ReactomeiR-HSA-196780 Biotin transport and metabolism
R-HSA-3371599 Defective HLCS causes multiple carboxylase deficiency
R-HSA-71032 Propionyl-CoA catabolism
SABIO-RKiP05166
UniPathwayiUPA00945; UER00908

Names & Taxonomyi

Protein namesi
Recommended name:
Propionyl-CoA carboxylase beta chain, mitochondrial (EC:6.4.1.3)
Short name:
PCCase subunit beta
Alternative name(s):
Propanoyl-CoA:carbon dioxide ligase subunit beta
Gene namesi
Name:PCCB
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000114054.13
HGNCiHGNC:8654 PCCB
MIMi232050 gene
neXtProtiNX_P05166

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Propionic acidemia type II (PA-2)8 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionLife-threatening disease characterized by episodic vomiting, lethargy and ketosis, neutropenia, periodic thrombocytopenia, hypogammaglobulinemia, developmental retardation, and intolerance to protein.
See also OMIM:606054
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00908017L → M in PA-2. 1 PublicationCorresponds to variant dbSNP:rs200185747EnsemblClinVar.1
Natural variantiVAR_00027144R → P in PA-2. 1
Natural variantiVAR_02384767R → S in PA-2. 1 PublicationCorresponds to variant dbSNP:rs747053913Ensembl.1
Natural variantiVAR_000272106S → R in PA-2. 1
Natural variantiVAR_023848107V → M in PA-2. 1 Publication1
Natural variantiVAR_023849112G → D in PA-2. 1 PublicationCorresponds to variant dbSNP:rs202247818EnsemblClinVar.1
Natural variantiVAR_000273131G → R in PA-2. 1
Natural variantiVAR_009081140K → KICK in PA-2. 1
Natural variantiVAR_023850153A → P in PA-2. 1 PublicationCorresponds to variant dbSNP:rs202247819EnsemblClinVar.1
Natural variantiVAR_023851165R → Q in PA-2; does not affect either heteromeric or homomeric assembly. 2 Publications1
Natural variantiVAR_000274165R → W in PA-2. 1 PublicationCorresponds to variant dbSNP:rs879253815EnsemblClinVar.1
Natural variantiVAR_000275168E → K in PA-2; common mutation. 2 PublicationsCorresponds to variant dbSNP:rs121964960EnsemblClinVar.1
Natural variantiVAR_023852188G → R in PA-2. 1 PublicationCorresponds to variant dbSNP:rs746102997Ensembl.1
Natural variantiVAR_000276198G → D in PA-2. Corresponds to variant dbSNP:rs762354873Ensembl.1
Natural variantiVAR_009082205V → D in PA-2. 1 Publication1
Natural variantiVAR_009083228P → L in PA-2. Corresponds to variant dbSNP:rs374722096EnsemblClinVar.1
Natural variantiVAR_023853246G → V in PA-2. 1 Publication1
Natural variantiVAR_023854341Missing in PA-2. 1 Publication1
Natural variantiVAR_000277408Missing in PA-2. 2 Publications1
Natural variantiVAR_000278410R → W in PA-2. 3 PublicationsCorresponds to variant dbSNP:rs121964959EnsemblClinVar.1
Natural variantiVAR_009084428T → I in PA-2. 2 PublicationsCorresponds to variant dbSNP:rs111033542EnsemblClinVar.1
Natural variantiVAR_023855430I → L in PA-2. 1 Publication1
Natural variantiVAR_023856435Y → C in PA-2. 1 PublicationCorresponds to variant dbSNP:rs121964961EnsemblClinVar.1
Natural variantiVAR_023857439Y → C in PA-2. 1 PublicationCorresponds to variant dbSNP:rs769521436EnsemblClinVar.1
Natural variantiVAR_009085442M → T in PA-2. 1 Publication1
Natural variantiVAR_023858468A → T in PA-2. 1 PublicationCorresponds to variant dbSNP:rs775563122EnsemblClinVar.1
Natural variantiVAR_000279497A → V in PA-2; common mutation; does not affect either heteromeric or homomeric assembly. 1 PublicationCorresponds to variant dbSNP:rs142403318EnsemblClinVar.1
Natural variantiVAR_000280512R → C in PA-2; affects heteromeric and homomeric assembly. 2 PublicationsCorresponds to variant dbSNP:rs186710233EnsemblClinVar.1
Natural variantiVAR_000281519L → P in PA-2; affects heteromeric and homomeric assembly. 1 PublicationCorresponds to variant dbSNP:rs202247822EnsemblClinVar.1
Natural variantiVAR_009086536N → D in PA-2; affects heteromeric and homomeric assembly. 1 PublicationCorresponds to variant dbSNP:rs202247823EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi5096
GeneReviewsiPCCB
MalaCardsiPCCB
MIMi606054 phenotype
OpenTargetsiENSG00000114054
Orphaneti35 Propionic acidemia
PharmGKBiPA32993

Chemistry databases

DrugBankiDB00121 Biotin
DB00161 L-Valine

Polymorphism and mutation databases

BioMutaiPCCB
DMDMi124106304

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 28Mitochondrion1 PublicationAdd BLAST28
ChainiPRO_000000029329 – 539Propionyl-CoA carboxylase beta chain, mitochondrialAdd BLAST511

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei71PhosphoserineCombined sources1
Modified residuei99N6-acetyllysine; alternateBy similarity1
Modified residuei99N6-succinyllysine; alternateBy similarity1
Modified residuei248N6-succinyllysineBy similarity1
Modified residuei474N6-acetyllysine; alternateBy similarity1
Modified residuei474N6-succinyllysine; alternateBy similarity1
Modified residuei489N6-acetyllysine; alternateBy similarity1
Modified residuei489N6-succinyllysine; alternateBy similarity1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiP05166
MaxQBiP05166
PaxDbiP05166
PeptideAtlasiP05166
PRIDEiP05166
ProteomicsDBi51816
51817 [P05166-2]

PTM databases

iPTMnetiP05166
PhosphoSitePlusiP05166

Expressioni

Gene expression databases

BgeeiENSG00000114054
CleanExiHS_PCCB
ExpressionAtlasiP05166 baseline and differential
GenevisibleiP05166 HS

Organism-specific databases

HPAiHPA036939
HPA036940

Interactioni

Subunit structurei

Probably a dodecamer composed of six biotin-containing alpha subunits and six beta subunits.

Binary interactionsi

WithEntry#Exp.IntActNotes
PCCAP051653EBI-1371908,EBI-2211679

Protein-protein interaction databases

BioGridi111129, 23 interactors
DIPiDIP-38244N
IntActiP05166, 11 interactors
MINTiP05166
STRINGi9606.ENSP00000419027

Structurei

3D structure databases

ProteinModelPortaliP05166
SMRiP05166
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini32 – 290CoA carboxyltransferase N-terminalPROSITE-ProRule annotationAdd BLAST259
Domaini294 – 533CoA carboxyltransferase C-terminalPROSITE-ProRule annotationAdd BLAST240

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni32 – 533CarboxyltransferasePROSITE-ProRule annotationAdd BLAST502
Regioni325 – 358Acyl-CoA bindingSequence analysisAdd BLAST34

Sequence similaritiesi

Belongs to the AccD/PCCB family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG0540 Eukaryota
COG4799 LUCA
GeneTreeiENSGT00530000063337
HOGENOMiHOG000218693
HOVERGENiHBG003970
InParanoidiP05166
KOiK01966
PhylomeDBiP05166
TreeFamiTF314350

Family and domain databases

InterProiView protein in InterPro
IPR034733 AcCoA_carboxyl
IPR029045 ClpP/crotonase-like_dom_sf
IPR011763 COA_CT_C
IPR011762 COA_CT_N
PfamiView protein in Pfam
PF01039 Carboxyl_trans, 1 hit
SUPFAMiSSF52096 SSF52096, 2 hits
PROSITEiView protein in PROSITE
PS50989 COA_CT_CTER, 1 hit
PS50980 COA_CT_NTER, 1 hit

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P05166-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAAALRVAAV GARLSVLASG LRAAVRSLCS QATSVNERIE NKRRTALLGG 
        60         70         80         90        100
GQRRIDAQHK RGKLTARERI SLLLDPGSFV ESDMFVEHRC ADFGMAADKN 
       110        120        130        140        150
KFPGDSVVTG RGRINGRLVY VFSQDFTVFG GSLSGAHAQK ICKIMDQAIT 
       160        170        180        190        200
VGAPVIGLND SGGARIQEGV ESLAGYADIF LRNVTASGVI PQISLIMGPC 
       210        220        230        240        250
AGGAVYSPAL TDFTFMVKDT SYLFITGPDV VKSVTNEDVT QEELGGAKTH 
       260        270        280        290        300
TTMSGVAHRA FENDVDALCN LRDFFNYLPL SSQDPAPVRE CHDPSDRLVP 
       310        320        330        340        350
ELDTIVPLES TKAYNMVDII HSVVDEREFF EIMPNYAKNI IVGFARMNGR 
       360        370        380        390        400
TVGIVGNQPK VASGCLDINS SVKGARFVRF CDAFNIPLIT FVDVPGFLPG 
       410        420        430        440        450
TAQEYGGIIR HGAKLLYAFA EATVPKVTVI TRKAYGGAYD VMSSKHLCGD 
       460        470        480        490        500
TNYAWPTAEI AVMGAKGAVE IIFKGHENVE AAQAEYIEKF ANPFPAAVRG 
       510        520        530 
FVDDIIQPSS TRARICCDLD VLASKKVQRP WRKHANIPL
Length:539
Mass (Da):58,216
Last modified:January 23, 2007 - v3
Checksum:iA2DAAC00312D3C0F
GO
Isoform 2 (identifier: P05166-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     124-124: Q → QQIIGWAQWLPLVISALWEAE

Note: No experimental confirmation available.
Show »
Length:559
Mass (Da):60,521
Checksum:i07788B2E955626AA
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti58 – 59QH → HD in AAB28900 (PubMed:8225321).Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00908017L → M in PA-2. 1 PublicationCorresponds to variant dbSNP:rs200185747EnsemblClinVar.1
Natural variantiVAR_00027144R → P in PA-2. 1
Natural variantiVAR_02384767R → S in PA-2. 1 PublicationCorresponds to variant dbSNP:rs747053913Ensembl.1
Natural variantiVAR_000272106S → R in PA-2. 1
Natural variantiVAR_023848107V → M in PA-2. 1 Publication1
Natural variantiVAR_023849112G → D in PA-2. 1 PublicationCorresponds to variant dbSNP:rs202247818EnsemblClinVar.1
Natural variantiVAR_000273131G → R in PA-2. 1
Natural variantiVAR_009081140K → KICK in PA-2. 1
Natural variantiVAR_023850153A → P in PA-2. 1 PublicationCorresponds to variant dbSNP:rs202247819EnsemblClinVar.1
Natural variantiVAR_023851165R → Q in PA-2; does not affect either heteromeric or homomeric assembly. 2 Publications1
Natural variantiVAR_000274165R → W in PA-2. 1 PublicationCorresponds to variant dbSNP:rs879253815EnsemblClinVar.1
Natural variantiVAR_000275168E → K in PA-2; common mutation. 2 PublicationsCorresponds to variant dbSNP:rs121964960EnsemblClinVar.1
Natural variantiVAR_023852188G → R in PA-2. 1 PublicationCorresponds to variant dbSNP:rs746102997Ensembl.1
Natural variantiVAR_000276198G → D in PA-2. Corresponds to variant dbSNP:rs762354873Ensembl.1
Natural variantiVAR_009082205V → D in PA-2. 1 Publication1
Natural variantiVAR_009083228P → L in PA-2. Corresponds to variant dbSNP:rs374722096EnsemblClinVar.1
Natural variantiVAR_023853246G → V in PA-2. 1 Publication1
Natural variantiVAR_048163287P → S1 PublicationCorresponds to variant dbSNP:rs2228310Ensembl.1
Natural variantiVAR_023854341Missing in PA-2. 1 Publication1
Natural variantiVAR_000277408Missing in PA-2. 2 Publications1
Natural variantiVAR_000278410R → W in PA-2. 3 PublicationsCorresponds to variant dbSNP:rs121964959EnsemblClinVar.1
Natural variantiVAR_009084428T → I in PA-2. 2 PublicationsCorresponds to variant dbSNP:rs111033542EnsemblClinVar.1
Natural variantiVAR_023855430I → L in PA-2. 1 Publication1
Natural variantiVAR_023856435Y → C in PA-2. 1 PublicationCorresponds to variant dbSNP:rs121964961EnsemblClinVar.1
Natural variantiVAR_023857439Y → C in PA-2. 1 PublicationCorresponds to variant dbSNP:rs769521436EnsemblClinVar.1
Natural variantiVAR_009085442M → T in PA-2. 1 Publication1
Natural variantiVAR_023858468A → T in PA-2. 1 PublicationCorresponds to variant dbSNP:rs775563122EnsemblClinVar.1
Natural variantiVAR_000279497A → V in PA-2; common mutation; does not affect either heteromeric or homomeric assembly. 1 PublicationCorresponds to variant dbSNP:rs142403318EnsemblClinVar.1
Natural variantiVAR_000280512R → C in PA-2; affects heteromeric and homomeric assembly. 2 PublicationsCorresponds to variant dbSNP:rs186710233EnsemblClinVar.1
Natural variantiVAR_000281519L → P in PA-2; affects heteromeric and homomeric assembly. 1 PublicationCorresponds to variant dbSNP:rs202247822EnsemblClinVar.1
Natural variantiVAR_009086536N → D in PA-2; affects heteromeric and homomeric assembly. 1 PublicationCorresponds to variant dbSNP:rs202247823EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_042568124Q → QQIIGWAQWLPLVISALWEA E in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X73424 mRNA Translation: CAA51825.1
S67325 mRNA Translation: AAB28900.1
AJ006487
, AJ006488, AJ006489, AJ006490, AJ006491, AJ006492, AJ006493, AJ006494, AJ006495, AJ006496, AJ006497, AJ006498, AJ006499 Genomic DNA Translation: CAA07066.1
AK295312 mRNA Translation: BAH12030.1
AC069524 Genomic DNA No translation available.
CH471052 Genomic DNA Translation: EAW79118.1
BC013768 mRNA Translation: AAH13768.1
BC053661 mRNA Translation: AAH53661.1
M13573 mRNA Translation: AAA60036.1
M31167 Genomic DNA Translation: AAA60037.1
M31169 Genomic DNA Translation: AAA60038.1
CCDSiCCDS3089.1 [P05166-1]
CCDS54643.1 [P05166-2]
PIRiT45009
RefSeqiNP_000523.2, NM_000532.4 [P05166-1]
NP_001171485.1, NM_001178014.1 [P05166-2]
UniGeneiHs.63788

Genome annotation databases

EnsembliENST00000251654; ENSP00000251654; ENSG00000114054 [P05166-1]
ENST00000469217; ENSP00000419027; ENSG00000114054 [P05166-2]
GeneIDi5096
KEGGihsa:5096
UCSCiuc003eqy.3 human [P05166-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiPCCB_HUMAN
AccessioniPrimary (citable) accession number: P05166
Secondary accession number(s): B7Z2Z4, Q16813, Q96CX0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 13, 1987
Last sequence update: January 23, 2007
Last modified: June 20, 2018
This is version 184 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

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