Details for: PCCB

Gene ID: 5096

Symbol: PCCB

Ensembl ID: ENSG00000114054

Description: propionyl-CoA carboxylase subunit beta

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 113.4718
    Cell Significance Index: -17.6500
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 90.5208
    Cell Significance Index: -22.9600
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 61.1243
    Cell Significance Index: -25.1800
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 55.4452
    Cell Significance Index: -22.5300
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 23.6503
    Cell Significance Index: -22.5800
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 20.0575
    Cell Significance Index: -24.7300
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 9.5638
    Cell Significance Index: -25.6200
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 7.1758
    Cell Significance Index: -22.0400
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 6.7587
    Cell Significance Index: -26.6700
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 3.9643
    Cell Significance Index: 392.1600
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 1.6225
    Cell Significance Index: 43.4800
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.1600
    Cell Significance Index: 188.6600
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.1221
    Cell Significance Index: 15.3100
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 1.0179
    Cell Significance Index: 16.3300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.9999
    Cell Significance Index: 200.5700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.7442
    Cell Significance Index: 266.9400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.6032
    Cell Significance Index: 119.7000
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.5225
    Cell Significance Index: 13.4300
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.5128
    Cell Significance Index: 26.6400
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.4837
    Cell Significance Index: 37.1200
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.4426
    Cell Significance Index: 30.6100
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 0.4419
    Cell Significance Index: 11.2900
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.3537
    Cell Significance Index: 10.1900
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.3518
    Cell Significance Index: 63.4100
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.3236
    Cell Significance Index: 8.0900
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.3097
    Cell Significance Index: 6.7100
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.2866
    Cell Significance Index: 12.9900
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.2864
    Cell Significance Index: 156.4000
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.2801
    Cell Significance Index: 193.7600
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.2327
    Cell Significance Index: 10.8500
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.2283
    Cell Significance Index: 14.3900
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.2087
    Cell Significance Index: 12.8300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.2057
    Cell Significance Index: 25.3000
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.1730
    Cell Significance Index: 4.6200
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.1439
    Cell Significance Index: 1.3300
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.1415
    Cell Significance Index: 7.9400
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1410
    Cell Significance Index: 26.8400
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.1109
    Cell Significance Index: 3.1000
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1043
    Cell Significance Index: 46.1100
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0925
    Cell Significance Index: 15.8000
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.0851
    Cell Significance Index: 5.7200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.0739
    Cell Significance Index: 3.2700
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.0611
    Cell Significance Index: 7.2000
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.0482
    Cell Significance Index: 3.5900
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.0481
    Cell Significance Index: 1.5400
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0401
    Cell Significance Index: 1.4100
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0395
    Cell Significance Index: 5.4300
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.0330
    Cell Significance Index: 1.2500
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0257
    Cell Significance Index: 48.3100
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0119
    Cell Significance Index: 21.9500
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0113
    Cell Significance Index: 7.1900
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0109
    Cell Significance Index: 16.7800
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0107
    Cell Significance Index: 14.4900
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0007
    Cell Significance Index: -0.5400
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0063
    Cell Significance Index: -0.8100
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0071
    Cell Significance Index: -5.2700
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0091
    Cell Significance Index: -5.7100
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0164
    Cell Significance Index: -7.4600
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0178
    Cell Significance Index: -13.5000
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0223
    Cell Significance Index: -12.5700
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.0243
    Cell Significance Index: -0.6400
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0265
    Cell Significance Index: -1.7100
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0293
    Cell Significance Index: -3.7500
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0323
    Cell Significance Index: -4.7000
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0452
    Cell Significance Index: -3.2000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0488
    Cell Significance Index: -4.9800
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0537
    Cell Significance Index: -0.9200
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0736
    Cell Significance Index: -15.5000
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0752
    Cell Significance Index: -21.6500
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.0836
    Cell Significance Index: -2.2400
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.0976
    Cell Significance Index: -2.3400
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0991
    Cell Significance Index: -11.5500
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1091
    Cell Significance Index: -3.7900
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1092
    Cell Significance Index: -12.5100
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.1251
    Cell Significance Index: -2.7400
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.1355
    Cell Significance Index: -2.0000
  • Cell Name: germ cell (CL0000586)
    Fold Change: -0.1477
    Cell Significance Index: -1.1200
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1798
    Cell Significance Index: -8.4500
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.1895
    Cell Significance Index: -21.6300
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.1903
    Cell Significance Index: -3.2100
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.2225
    Cell Significance Index: -6.3500
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2227
    Cell Significance Index: -23.1900
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.2244
    Cell Significance Index: -4.7800
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2292
    Cell Significance Index: -18.1500
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.2369
    Cell Significance Index: -12.4400
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.2865
    Cell Significance Index: -6.0800
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.2874
    Cell Significance Index: -4.8100
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.3306
    Cell Significance Index: -9.0000
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.3483
    Cell Significance Index: -18.1400
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.3705
    Cell Significance Index: -10.8800
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.3713
    Cell Significance Index: -4.6100
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.3980
    Cell Significance Index: -24.4000
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.4438
    Cell Significance Index: -8.9100
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.4577
    Cell Significance Index: -6.5600
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.4729
    Cell Significance Index: -6.9800
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.4814
    Cell Significance Index: -15.7600
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.4873
    Cell Significance Index: -15.5200
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.4902
    Cell Significance Index: -10.5900
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.5151
    Cell Significance Index: -11.9000
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.5275
    Cell Significance Index: -10.4300

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Enzyme Function:** PCCB is a subunit of the propionyl-CoA carboxylase enzyme, which catalyzes the carboxylation of propionyl-CoA to methylmalonyl-CoA, a critical step in fatty acid synthesis and biotin metabolism. 2. **Biotin Metabolism:** PCCB plays a central role in biotin metabolism, as it is involved in the carboxylation of biotin, which is essential for the activation of biotin-dependent carboxylases. 3. **Fatty Acid Synthesis:** PCCB is also essential for fatty acid synthesis, as it participates in the carboxylation of propionyl-CoA, a precursor molecule for fatty acid elongation. 4. **Cellular Expression:** PCCB is expressed in various cell types, including erythroid progenitor cells, neurons, and oocytes, highlighting its importance in multiple physiological processes. **Pathways and Functions:** 1. **Biotin Transport and Metabolism:** PCCB is involved in the biotin transport and metabolism pathway, where it participates in the carboxylation of biotin, which is essential for the activation of biotin-dependent carboxylases. 2. **Fatty Acid Metabolic Process:** PCCB is involved in the fatty acid metabolic process, where it participates in the carboxylation of propionyl-CoA, a precursor molecule for fatty acid elongation. 3. **Catalytic Complex:** PCCB is part of the catalytic complex of the propionyl-CoA carboxylase enzyme, which catalyzes the carboxylation of propionyl-CoA to methylmalonyl-CoA. 4. **Mitochondrial Fatty Acid Beta-Oxidation:** PCCB is also involved in mitochondrial fatty acid beta-oxidation, where it participates in the breakdown of fatty acids in the mitochondria. **Clinical Significance:** Mutations in the PCCB gene have been associated with defective biotin metabolism, leading to multiple carboxylase deficiency, a condition characterized by impaired biotin-dependent carboxylase activity. This condition can lead to a range of symptoms, including neurological impairment, growth retardation, and developmental delays. Therefore, the PCCB gene is a critical component of biotin metabolism and fatty acid synthesis, and mutations in this gene can have significant clinical implications. **Conclusion:** The Propionyl-CoA Carboxylase Subunit Beta (PCCB) gene plays a critical role in biotin metabolism and fatty acid synthesis. Its expression in various cell types highlights its importance in multiple physiological processes. Mutations in the PCCB gene can have significant clinical implications, leading to defective biotin metabolism and multiple carboxylase deficiency. Further research is needed to fully understand the role of PCCB in biotin metabolism and fatty acid synthesis.

Genular Protein ID: 3097239239

Symbol: PCCB_HUMAN

Name: Propanoyl-CoA:carbon dioxide ligase subunit beta

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 8188292

Title: 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

DOI: 10.1006/geno.1994.1099

PubMed ID: 8225321

Title: The molecular defect in propionic acidemia: exon skipping caused by an 8-bp deletion from an intron in the PCCB allele.

PubMed ID: 8225321

DOI: 10.1007/bf01247343

PubMed ID: 9683601

Title: Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients.

PubMed ID: 9683601

DOI: 10.1086/301970

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16641997

Title: The DNA sequence, annotation and analysis of human chromosome 3.

PubMed ID: 16641997

DOI: 10.1038/nature04728

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 3460076

Title: 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

DOI: 10.1073/pnas.83.13.4864

PubMed ID: 16023992

Title: Mitochondrial targeting signals and mature peptides of 3-methylcrotonyl-CoA carboxylase.

PubMed ID: 16023992

DOI: 10.1016/j.bbrc.2005.06.190

PubMed ID: 2154743

Title: An unusual insertion/deletion in the gene encoding the beta-subunit of propionyl-CoA carboxylase is a frequent mutation in Caucasian propionic acidemia.

PubMed ID: 2154743

DOI: 10.1073/pnas.87.4.1372

PubMed ID: 6765947

Title: Isolation and characterization of propionyl-CoA carboxylase from normal human liver. Evidence for a protomeric tetramer of nonidentical subunits.

PubMed ID: 6765947

DOI: 10.1016/s0021-9258(19)86263-4

PubMed ID: 20725044

Title: Crystal structure of the alpha(6)beta(6) holoenzyme of propionyl-coenzyme A carboxylase.

PubMed ID: 20725044

DOI: 10.1038/nature09302

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 8411997

Title: Three independent mutations in the same exon of the PCCB gene: differences between Caucasian and Japanese propionic acidaemia.

PubMed ID: 8411997

DOI: 10.1007/bf00710282

PubMed ID: 10447268

Title: Identification of novel mutations in the PCCB gene in European propionic acidemia patients.

PubMed ID: 10447268

DOI: 10.1002/(sici)1098-1004(1999)14:1<89::aid-humu18>3.0.co;2-5

PubMed ID: 10502773

Title: Overview of mutations in the PCCA and PCCB genes causing propionic acidemia.

PubMed ID: 10502773

DOI: 10.1002/(sici)1098-1004(199910)14:4<275::aid-humu1>3.0.co;2-n

PubMed ID: 11749052

Title: Effect of PCCB gene mutations on the heteromeric and homomeric assembly of propionyl-CoA carboxylase.

PubMed ID: 11749052

DOI: 10.1006/mgme.2001.3254

PubMed ID: 12189489

Title: Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications.

PubMed ID: 12189489

DOI: 10.1007/s00439-002-0761-z

PubMed ID: 12559849

Title: Propionic acidemia: identification of twenty-four novel mutations in Europe and North America.

PubMed ID: 12559849

DOI: 10.1016/s1096-7192(02)00197-x

PubMed ID: 15059621

Title: Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia.

PubMed ID: 15059621

DOI: 10.1016/j.ymgme.2004.01.003

PubMed ID: 15890657

Title: Characterization of four variant forms of human propionyl-CoA carboxylase expressed in Escherichia coli.

PubMed ID: 15890657

DOI: 10.1074/jbc.m413281200

Sequence Information:

  • Length: 539
  • Mass: 58216
  • Checksum: A2DAAC00312D3C0F
  • Sequence:
  • MAAALRVAAV GARLSVLASG LRAAVRSLCS QATSVNERIE NKRRTALLGG GQRRIDAQHK 
    RGKLTARERI SLLLDPGSFV ESDMFVEHRC ADFGMAADKN KFPGDSVVTG RGRINGRLVY 
    VFSQDFTVFG GSLSGAHAQK ICKIMDQAIT VGAPVIGLND SGGARIQEGV ESLAGYADIF 
    LRNVTASGVI PQISLIMGPC AGGAVYSPAL TDFTFMVKDT SYLFITGPDV VKSVTNEDVT 
    QEELGGAKTH TTMSGVAHRA FENDVDALCN LRDFFNYLPL SSQDPAPVRE CHDPSDRLVP 
    ELDTIVPLES TKAYNMVDII HSVVDEREFF EIMPNYAKNI IVGFARMNGR TVGIVGNQPK 
    VASGCLDINS SVKGARFVRF CDAFNIPLIT FVDVPGFLPG TAQEYGGIIR HGAKLLYAFA 
    EATVPKVTVI TRKAYGGAYD VMSSKHLCGD TNYAWPTAEI AVMGAKGAVE IIFKGHENVE 
    AAQAEYIEKF ANPFPAAVRG FVDDIIQPSS TRARICCDLD VLASKKVQRP WRKHANIPL

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.