Human Gene TBCD (ENST00000355528.9_6) from GENCODE V47lift37
  Description: tubulin folding cofactor D (from RefSeq NM_005993.5)
Gencode Transcript: ENST00000355528.9_6
Gencode Gene: ENSG00000141556.22_15
Transcript (Including UTRs)
   Position: hg19 chr17:80,709,941-80,903,790 Size: 193,850 Total Exon Count: 39 Strand: +
Coding Region
   Position: hg19 chr17:80,710,070-80,900,339 Size: 190,270 Coding Exon Count: 39 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:80,709,941-80,903,790)mRNA (may differ from genome)Protein (1192 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TBCD_HUMAN
DESCRIPTION: RecName: Full=Tubulin-specific chaperone D; AltName: Full=Beta-tubulin cofactor D; Short=tfcD; AltName: Full=SSD-1; AltName: Full=Tubulin-folding cofactor D;
FUNCTION: Tubulin-folding protein; involved in the first step of the tubulin folding pathway. Modulates microtubule dynamics by capturing GTP-bound beta-tubulin (TUBB). Acts as a GTPase- activating protein (GAP) for ARL2. Its ability to interact with beta tubulin is regulated via its interaction with ARL2. Induces microtubule disruption in absence of ARL2. Increases degradation of beta tubulin, when overexpressed in polarized cells. Promotes epithelial cell detachment, a process antagonized by ARL2. Induces tight adherens and tight junctions disassembly at the lateral cell membrane.
SUBUNIT: Found in a complex with at least ARL2, PPP2CB, PPP2R1A, PPP2R2A, PPP2R5E and TBCD. Interacts with PPP2CB. Interacts with ARL2 (By similarity). Supercomplex made of cofactors A to E. Cofactors A and D function by capturing and stabilizing tubulin in a quasi-native conformation. Cofactor E binds to the cofactor D- tubulin complex; interaction with cofactor C then causes the release of tubulin polypeptides that are committed to the native state. Interacts with ARL2; interaction is enhanced with the GDP- bound form of ARL2. Does not interact with ARL3, ARL4A and ARL4D. Interacts with beta tubulin.
SUBCELLULAR LOCATION: Cell junction, tight junction (By similarity). Lateral cell membrane (By similarity). Cytoplasm (By similarity). Cell junction, adherens junction (By similarity). Note=Localized in cell-cell contacts (By similarity).
TISSUE SPECIFICITY: Ubiquitously expressed.
INDUCTION: Down-regulated by shear stress.
SIMILARITY: Belongs to the TBCD family.
SIMILARITY: Contains 3 HEAT repeats.
SEQUENCE CAUTION: Sequence=AAH39654.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAA76832.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: TBCD
Diseases sorted by gene-association score: encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum* (1232), corneal dystrophy, reis-bucklers type (12), chronic tic disorder (12), spastic quadriplegia (11), hypoparathyroidism-retardation-dysmorphism syndrome (9), epithelial basement membrane dystrophy (8), corneal dystrophy, thiel-behnke type (8), retinitis pigmentosa 2 (8), epithelial-stromal tgfbi dystrophy (7), corneal dystrophy, avellino type (7), lattice corneal dystrophy (6), epithelial and subepithelial dystrophy (6), quadriplegia (6), corneal fleck dystrophy (6), microcephaly (3)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 19.87 RPKM in Brain - Cerebellum
Total median expression: 623.67 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -48.60129-0.377 Picture PostScript Text
3' UTR -1226.803451-0.355 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011989 - ARM-like
IPR016024 - ARM-type_fold
IPR022577 - Tubulin_specific_chaperoneD_C

Pfam Domains:
PF12612 - Tubulin folding cofactor D C terminal

SCOP Domains:
48371 - ARM repeat
48431 - Lipovitellin-phosvitin complex, superhelical domain

ModBase Predicted Comparative 3D Structure on Q9BTW9
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
Gene SorterGene Sorter Gene Sorter  
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005096 GTPase activator activity
GO:0005515 protein binding
GO:0048487 beta-tubulin binding
GO:0051087 chaperone binding

Biological Process:
GO:0000278 mitotic cell cycle
GO:0006457 protein folding
GO:0007021 tubulin complex assembly
GO:0007023 post-chaperonin tubulin folding pathway
GO:0010812 negative regulation of cell-substrate adhesion
GO:0031115 negative regulation of microtubule polymerization
GO:0034333 adherens junction assembly
GO:0043547 positive regulation of GTPase activity
GO:0048667 cell morphogenesis involved in neuron differentiation
GO:0070830 bicellular tight junction assembly

Cellular Component:
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0005815 microtubule organizing center
GO:0005856 cytoskeleton
GO:0005874 microtubule
GO:0005886 plasma membrane
GO:0005912 adherens junction
GO:0005923 bicellular tight junction
GO:0016020 membrane
GO:0016328 lateral plasma membrane
GO:0030054 cell junction


-  Descriptions from all associated GenBank mRNAs
  BC003094 - Homo sapiens tubulin folding cofactor D, mRNA (cDNA clone MGC:1538 IMAGE:3503192), complete cds.
LF384833 - JP 2014500723-A/192336: Polycomb-Associated Non-Coding RNAs.
AB023205 - Homo sapiens KIAA0988 mRNA for KIAA0988 protein.
AK293471 - Homo sapiens cDNA FLJ61213 complete cds, highly similar to Tubulin-specific chaperone D.
BC006364 - Homo sapiens tubulin folding cofactor D, mRNA (cDNA clone MGC:12705 IMAGE:4131114), complete cds.
AK091959 - Homo sapiens cDNA FLJ34640 fis, clone KIDNE2016539, highly similar to Homo sapiens mRNA for beta-tubulin folding cofactor D.
AX747278 - Sequence 803 from Patent EP1308459.
AJ006417 - Homo sapiens mRNA for beta-tubulin folding cofactor D.
KJ905935 - Synthetic construct Homo sapiens clone ccsbBroadEn_15605 TBCD gene, encodes complete protein.
AB384074 - Synthetic construct DNA, clone: pF1KSDA0988, Homo sapiens TBCD gene for tubulin-specific chaperone D, complete cds, without stop codon, in Flexi system.
DQ891885 - Synthetic construct clone IMAGE:100004515; FLH180931.01X; RZPDo839H07134D tubulin-specific chaperone d (TBCD) gene, encodes complete protein.
EU176650 - Synthetic construct Homo sapiens clone IMAGE:100011447; FLH180930.01L; RZPDo839G10254D tubulin folding cofactor D (TBCD) gene, encodes complete protein.
AL133562 - Homo sapiens mRNA; cDNA DKFZp434F216 (from clone DKFZp434F216); partial cds.
MA620410 - JP 2018138019-A/192336: Polycomb-Associated Non-Coding RNAs.
AF052173 - Homo sapiens clone 24417 mRNA sequence.
BC039654 - Homo sapiens tubulin folding cofactor D, mRNA (cDNA clone MGC:45847 IMAGE:4865367), complete cds.
AK057975 - Homo sapiens cDNA FLJ25246 fis, clone STM03354, highly similar to Homo sapiens mRNA for beta-tubulin folding cofactor D.
BC150142 - Homo sapiens cDNA clone IMAGE:40122268.
AL096745 - Homo sapiens mRNA; cDNA DKFZp586D1022 (from clone DKFZp586D1022).
KJ905936 - Synthetic construct Homo sapiens clone ccsbBroadEn_15606 TBCD gene, encodes complete protein.
JD271224 - Sequence 252248 from Patent EP1572962.
LF328656 - JP 2014500723-A/136159: Polycomb-Associated Non-Coding RNAs.
MA564233 - JP 2018138019-A/136159: Polycomb-Associated Non-Coding RNAs.
LF328671 - JP 2014500723-A/136174: Polycomb-Associated Non-Coding RNAs.
MA564248 - JP 2018138019-A/136174: Polycomb-Associated Non-Coding RNAs.
BC024167 - Homo sapiens tubulin folding cofactor D, mRNA (cDNA clone IMAGE:4042508), with apparent retained intron.
LF328673 - JP 2014500723-A/136176: Polycomb-Associated Non-Coding RNAs.
BC012824 - Homo sapiens tubulin folding cofactor D, mRNA (cDNA clone IMAGE:2961209), partial cds.
LF328677 - JP 2014500723-A/136180: Polycomb-Associated Non-Coding RNAs.
AF193042 - Homo sapiens PP1096 mRNA, complete cds.
LF328678 - JP 2014500723-A/136181: Polycomb-Associated Non-Coding RNAs.
AK129619 - Homo sapiens cDNA FLJ26108 fis, clone SPL05107.
JD537085 - Sequence 518109 from Patent EP1572962.
JD335558 - Sequence 316582 from Patent EP1572962.
JD549846 - Sequence 530870 from Patent EP1572962.
JD430069 - Sequence 411093 from Patent EP1572962.
MA564250 - JP 2018138019-A/136176: Polycomb-Associated Non-Coding RNAs.
MA564254 - JP 2018138019-A/136180: Polycomb-Associated Non-Coding RNAs.
MA564255 - JP 2018138019-A/136181: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9BTW9 (Reactome details) participates in the following event(s):

R-HSA-389955 Beta-tubulin:GTP: Cofactor A+ Cofactor D -> Beta-tubulin:GTP:Cofactor D + Cofactor A
R-HSA-389969 Beta-tubulin:GTP + Cofactor D -> Beta-tubulin:GTP: Cofactor D
R-HSA-389974 Beta-tubulin:GTP:Cofactor D:alpha-tubulin:GTP:Cofactor E:Cofactor C-> Beta-tubulin:GDP :alpha-tubulin:GTP heterodimer +Cofactor E+ Cofactor D+ Cofactor C+ Pi
R-HSA-389976 Beta-tubulin:GTP:Cofactor D+alpha-tubulin:GTP:Cofactor E-> Beta-tubulin:GTP:Cofactor D:alpha-tubulin:GTP:Cofactor E
R-HSA-389964 Beta-tubulin:GTP:Cofactor D:alpha-tubulin:GTP:Cofactor E+ Cofactor C-> Beta-tubulin:GTP:Cofactor D:alpha-tubulin:GTP:Cofactor E:Cofactor C
R-HSA-389977 Post-chaperonin tubulin folding pathway
R-HSA-391251 Protein folding
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000355528.1, ENST00000355528.2, ENST00000355528.3, ENST00000355528.4, ENST00000355528.5, ENST00000355528.6, ENST00000355528.7, ENST00000355528.8, KIAA0988, NM_005993, O95458, PP1096, Q7L8K1, Q8IXP6, Q8NAX0, Q8WYH4, Q96E74, Q9BTW9, Q9UF82, Q9UG46, Q9Y2J3, SSD1, TBCD_HUMAN, TFCD, uc317zda.1, uc317zda.2
UCSC ID: ENST00000355528.9_6
RefSeq Accession: NM_005993.5
Protein: Q9BTW9 (aka TBCD_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.