Details for: TBCE

Gene ID: 6905

Symbol: TBCE

Ensembl ID: ENSG00000284770

Description: tubulin folding cofactor E

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.58
    Marker Score: 1147
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 1.01
    Marker Score: 775
  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 0.96
    Marker Score: 966
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.95
    Marker Score: 490
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.94
    Marker Score: 444
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.86
    Marker Score: 311
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 0.84
    Marker Score: 11155
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.83
    Marker Score: 343
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.78
    Marker Score: 525
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 0.73
    Marker Score: 1123
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.7
    Marker Score: 445
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.67
    Marker Score: 2822.5
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.67
    Marker Score: 269
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.66
    Marker Score: 169
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.56
    Marker Score: 857
  • Cell Name: CD16-positive, CD56-dim natural killer cell, human (CL0000939)
    Fold Change: 0.5
    Marker Score: 389
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.5
    Marker Score: 210
  • Cell Name: CD4-positive, alpha-beta T cell (CL0000624)
    Fold Change: 0.47
    Marker Score: 1051
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.45
    Marker Score: 543
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 0.42
    Marker Score: 4004.5
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.41
    Marker Score: 25318
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.4
    Marker Score: 3427.5
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 0.39
    Marker Score: 3681.5
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.38
    Marker Score: 215.5
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 0.37
    Marker Score: 13627
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: 0.36
    Marker Score: 377
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.34
    Marker Score: 1320
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 0.34
    Marker Score: 188
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 0.33
    Marker Score: 135
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.33
    Marker Score: 196
  • Cell Name: brainstem motor neuron (CL2000047)
    Fold Change: 0.32
    Marker Score: 186
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.31
    Marker Score: 120
  • Cell Name: CD1c-positive myeloid dendritic cell (CL0002399)
    Fold Change: 0.31
    Marker Score: 806
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 0.31
    Marker Score: 2019
  • Cell Name: tracheal goblet cell (CL1000329)
    Fold Change: 0.3
    Marker Score: 837.5
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 0.29
    Marker Score: 11193
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 0.29
    Marker Score: 4345.5
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0.29
    Marker Score: 5714
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.28
    Marker Score: 74
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.28
    Marker Score: 374
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 0.27
    Marker Score: 1140
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.27
    Marker Score: 185
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 0.27
    Marker Score: 2068
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 0.26
    Marker Score: 622.5
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: 0.26
    Marker Score: 650
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.26
    Marker Score: 2290
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.25
    Marker Score: 161
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 0.25
    Marker Score: 452
  • Cell Name: malignant cell (CL0001064)
    Fold Change: 0.25
    Marker Score: 3300
  • Cell Name: neuroendocrine cell (CL0000165)
    Fold Change: 0.24
    Marker Score: 95
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.24
    Marker Score: 77
  • Cell Name: B-2 B cell (CL0000822)
    Fold Change: 0.24
    Marker Score: 290
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.23
    Marker Score: 489
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.23
    Marker Score: 80
  • Cell Name: natural killer cell (CL0000623)
    Fold Change: 0.23
    Marker Score: 295
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 0.23
    Marker Score: 92
  • Cell Name: hematopoietic multipotent progenitor cell (CL0000837)
    Fold Change: 0.23
    Marker Score: 110
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: 0.22
    Marker Score: 77
  • Cell Name: effector memory CD8-positive, alpha-beta T cell (CL0000913)
    Fold Change: 0.22
    Marker Score: 137
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.22
    Marker Score: 62
  • Cell Name: lung microvascular endothelial cell (CL2000016)
    Fold Change: 0.22
    Marker Score: 46
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.21
    Marker Score: 124
  • Cell Name: classical monocyte (CL0000860)
    Fold Change: 0.21
    Marker Score: 880
  • Cell Name: tracheobronchial smooth muscle cell (CL0019019)
    Fold Change: 0.21
    Marker Score: 62
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.21
    Marker Score: 337
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.21
    Marker Score: 96
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.21
    Marker Score: 70.5
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.21
    Marker Score: 869.5
  • Cell Name: plasmacytoid dendritic cell, human (CL0001058)
    Fold Change: 0.2
    Marker Score: 53
  • Cell Name: CNS interneuron (CL0000402)
    Fold Change: 0.2
    Marker Score: 96.5
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.2
    Marker Score: 1203
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.2
    Marker Score: 333
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: 0.2
    Marker Score: 301
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.19
    Marker Score: 4110.5
  • Cell Name: mesenchymal lymphangioblast (CL0005021)
    Fold Change: 0.19
    Marker Score: 43
  • Cell Name: myeloid leukocyte (CL0000766)
    Fold Change: 0.19
    Marker Score: 232
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.19
    Marker Score: 183
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.19
    Marker Score: 1133
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: 0.19
    Marker Score: 4823
  • Cell Name: B-1a B cell (CL0000820)
    Fold Change: 0.19
    Marker Score: 45
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.19
    Marker Score: 56
  • Cell Name: tendon cell (CL0000388)
    Fold Change: 0.19
    Marker Score: 46
  • Cell Name: stem cell (CL0000034)
    Fold Change: 0.19
    Marker Score: 442
  • Cell Name: activated CD8-positive, alpha-beta T cell, human (CL0001049)
    Fold Change: 0.19
    Marker Score: 42
  • Cell Name: progenitor cell of endocrine pancreas (CL0002351)
    Fold Change: 0.18
    Marker Score: 40
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.18
    Marker Score: 122
  • Cell Name: oocyte (CL0000023)
    Fold Change: 0.18
    Marker Score: 44
  • Cell Name: ILC1, human (CL0001077)
    Fold Change: 0.18
    Marker Score: 45
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 0.18
    Marker Score: 103
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.17
    Marker Score: 102
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: 0.17
    Marker Score: 115
  • Cell Name: NKp44-negative group 3 innate lymphoid cell, human (CL0001080)
    Fold Change: 0.17
    Marker Score: 38
  • Cell Name: type I enteroendocrine cell (CL0002277)
    Fold Change: 0.17
    Marker Score: 43
  • Cell Name: NKp44-positive group 3 innate lymphoid cell, human (CL0001079)
    Fold Change: 0.17
    Marker Score: 39
  • Cell Name: fibroblast of lung (CL0002553)
    Fold Change: 0.17
    Marker Score: 447
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 0.17
    Marker Score: 182
  • Cell Name: interneuron (CL0000099)
    Fold Change: 0.17
    Marker Score: 77
  • Cell Name: type L enteroendocrine cell (CL0002279)
    Fold Change: 0.17
    Marker Score: 46
  • Cell Name: erythroid progenitor cell, mammalian (CL0001066)
    Fold Change: 0.17
    Marker Score: 54
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.17
    Marker Score: 41

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Other Information

**Key Characteristics:** TBCE is a protein-coding gene that is involved in the folding and assembly of tubulins, which are critical components of microtubules. The gene is highly expressed in various cell types, including epithelial cells, muscle cells, and neurons. TBCE is a chaperone protein that interacts with tubulins and facilitates their proper folding and assembly. The gene is also involved in several cellular processes, including protein folding, microtubule organization, and cytoskeleton dynamics. **Pathways and Functions:** TBCE is involved in several key pathways, including: 1. **Post-chaperonin tubulin folding pathway**: TBCE interacts with tubulins and facilitates their proper folding and assembly. 2. **Microtubule organization**: TBCE is essential for maintaining the stability and organization of microtubules. 3. **Cytoskeleton dynamics**: TBCE regulates the dynamics of the cytoskeleton, including microtubules and actin filaments. 4. **Protein-folding chaperone binding**: TBCE interacts with other chaperone proteins and facilitates their binding to client proteins. 5. **Protein binding**: TBCE interacts with various proteins, including tubulins, actin, and microtubule-associated proteins. **Clinical Significance:** Dysregulation of TBCE has been linked to several diseases, including: 1. **Cancer**: TBCE mutations have been identified in various types of cancer, including breast, lung, and colon cancer. 2. **Neurodegenerative disorders**: TBCE mutations have been associated with neurodegenerative disorders, such as Alzheimer's disease and Parkinson's disease. 3. **Cardiovascular diseases**: TBCE mutations have been linked to cardiovascular diseases, including atherosclerosis and cardiac hypertrophy. 4. **Muscle atrophy**: TBCE mutations have been associated with muscle atrophy and weakness. In conclusion, TBCE is a critical gene that plays a pivotal role in maintaining cellular homeostasis. Its dysregulation has been linked to several diseases, emphasizing the need for further research into its mechanisms and clinical implications. As an expert immunologist, I believe that understanding the functions and pathways of TBCE will provide valuable insights into the development of novel therapeutic strategies for these diseases.

Genular Protein ID: 412169850

Symbol: TBCE_HUMAN

Name: Tubulin-specific chaperone E

UniProtKB Accession Codes:

Q15813 A8K8C2 B7Z3P1

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 2 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CORUM 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 8 EMDB 1 EPD 1 Ensembl 3 ExpressionAtlas 1 GO 14 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 2 InParanoid 1 IntAct 1 InterPro 7 MANE-Select 1 MIM 7 MalaCards 1 MassIVE 1 MaxQB 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 Orphanet 3 OrthoDB 1 PANTHER 2 PDB 4 PDBsum 2 PRO 1 PROSITE 2 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 1 RefSeq 4 SMART 1 SMR 1 STRING 1 SUPFAM 3 SignaLink 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 2 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8706133

Title: Pathway leading to correctly folded beta-tubulin.

PubMed ID: 8706133

DOI: 10.1016/s0092-8674(00)80100-2

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

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: 11847227

Title: Functional overlap between retinitis pigmentosa 2 protein and the tubulin-specific chaperone cofactor C.

PubMed ID: 11847227

DOI: 10.1074/jbc.m200128200

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22223895

Title: Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features.

PubMed ID: 22223895

DOI: 10.1074/mcp.m111.015131

PubMed ID: 22814378

Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.

PubMed ID: 22814378

DOI: 10.1073/pnas.1210303109

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 27666374

Title: Biallelic TBCD mutations cause early-onset neurodegenerative encephalopathy.

PubMed ID: 27666374

DOI: 10.1016/j.ajhg.2016.08.005

PubMed ID: 27666369

Title: TBCE mutations cause early-onset progressive encephalopathy with distal spinal muscular atrophy.

PubMed ID: 27666369

DOI: 10.1016/j.ajhg.2016.08.006

PubMed ID: 12389028

Title: Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.

PubMed ID: 12389028

DOI: 10.1038/ng1012

Sequence Information:

  • Length: 527
  • Mass: 59346
  • Checksum: C919052D2D463BA1
  • Sequence:
    • MSDTLTADVI GRRVEVNGEH ATVRFAGVVP PVAGPWLGVE WDNPERGKHD GSHEGTVYFK 
CRHPTGGSFI RPNKVNFGTD FLTAIKNRYV LEDGPEEDRK EQIVTIGNKP VETIGFDSIM 
KQQSQLSKLQ EVSLRNCAVS CAGEKGGVAE ACPNIRKVDL SKNLLSSWDE VIHIADQLRH 
LEVLNVSENK LKFPSGSVLT GTLSVLKVLV LNQTGITWAE VLRCVAGCPG LEELYLESNN 
IFISERPTDV LQTVKLLDLS SNQLIDENQL YLIAHLPRLE QLILSDTGIS SLHFPDAGIG 
CKTSMFPSLK YLVVNDNQIS QWSFFNELEK LPSLRALSCL RNPLTKEDKE AETARLLIIA 
SIGQLKTLNK CEILPEERRR AELDYRKAFG NEWKQAGGHK DPEKNRLSEE FLTAHPRYQF 
LCLKYGAPED WELKTQQPLM LKNQLLTLKI KYPHQLDQKV LEKQLPGSMT IQKVKGLLSR 
LLKVPVSDLL LSYESPKKPG REIELENDLK SLQFYSVENG DCLLVRW

Genular Protein ID: 3600004349

Symbol: A0A2R8Y6Q1_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A2R8Y6Q1

Database IDs:

ARBA 1 Antibodypedia 2 Bgee 1 CDD 1 CTD 1 ChiTaRS 1 DNASU 1 EMBL 6 EPD 1 Ensembl 4 GO 1 Gene3D 1 GeneTree 1 HGNC 1 InterPro 4 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 Pfam 2 Proteomes 2 RefSeq 1 SUPFAM 2 VEuPathDB 2

Citations:

PubMed ID: 11181995

Title: The sequence of the human genome.

PubMed ID: 11181995

DOI: 10.1126/science.1058040

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

Sequence Information:

  • Length: 414
  • Mass: 46877
  • Checksum: 2F27838C79E1CC73
  • Sequence:
    • MYPCELCFSC SQLSKLQEVS LRNCAVSCAG EKGGVAEACP NIRKVDLSKN LLSSWDEVIH 
IADQLRHLEV LNVSENKLKF PSGSVLTGTL SVLKVLVLNQ TGITWAEVLR CVAGCPGLEE 
LYLESNNIFI SERPTDVLQT VKLLDLSSNQ LIDENQLYLI AHLPRLEQLI LSDTGISSLH 
FPDAGIGCKT SMFPSLKYLV VNDNQISQWS FFNELEKLPS LRALSCLRNP LTKEDKEAET 
ARLLIIASIG QLKTLNKCEI LPEERRRAEL DYRKAFGNEW KQAGGHKDPE KNRLSEEFLT 
AHPRYQFLCL KYGAPEDWEL KTQQPLMLKN QLLTLKIKYP HQLDQKVLEK QLPGSMTIQK 
VKGLLSRLLK VPVSDLLLSY ESPKKPGREI ELENDLKSLQ FYSVENGDCL LVRW

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. For the full schema, download it here.