Human Gene TBC1D1 (ENST00000698857.1_3) from GENCODE V47lift37
  Description: TBC1 domain family member 1, transcript variant 6 (from RefSeq NM_001396959.1)
Gencode Transcript: ENST00000698857.1_3
Gencode Gene: ENSG00000065882.18_17
Transcript (Including UTRs)
   Position: hg19 chr4:37,892,705-38,140,794 Size: 248,090 Total Exon Count: 22 Strand: +
Coding Region
   Position: hg19 chr4:37,903,717-38,138,956 Size: 235,240 Coding Exon Count: 21 

Page IndexSequence and LinksPrimersMalaCardsCTDGene Alleles
Microarray ExpressionRNA StructureOther SpeciesmRNA DescriptionsOther NamesModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:37,892,705-38,140,794)mRNA (may differ from genome)Protein (1262 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblExonPrimerGeneCardsHGNC
MalacardsMGIPubMedUniProtKBWikipedia

-  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: TBC1D1
Diseases sorted by gene-association score: warburg micro syndrome 1 (7)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

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

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -152.40358-0.426 Picture PostScript Text
3' UTR -569.501838-0.310 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.

-  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 SorterGene Sorter    
 RGD    
      
      

-  Descriptions from all associated GenBank mRNAs
  BC050321 - Homo sapiens TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1, mRNA (cDNA clone MGC:48435 IMAGE:5262043), complete cds.
BC029950 - Homo sapiens TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1, mRNA (cDNA clone IMAGE:5176169).
AK295746 - Homo sapiens cDNA FLJ61614 complete cds, highly similar to TBC1 domain family member 1.
BC126979 - Homo sapiens TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1, mRNA (cDNA clone IMAGE:40108509), complete cds.
AB587568 - Synthetic construct DNA, clone: pF1KE1590, Homo sapiens TBC1D1 gene for TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1, without stop codon, in Flexi system.
AB449881 - Homo sapiens TBC1D1 mRNA for TBC1 domain family, member 1, complete cds.
AK303574 - Homo sapiens cDNA FLJ58219 complete cds, highly similar to TBC1 domain family member 1.
BC028196 - Homo sapiens TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1, mRNA (cDNA clone IMAGE:5211948), with apparent retained intron.
JD458543 - Sequence 439567 from Patent EP1572962.
JD424332 - Sequence 405356 from Patent EP1572962.
JD125326 - Sequence 106350 from Patent EP1572962.
JD298547 - Sequence 279571 from Patent EP1572962.
JD283506 - Sequence 264530 from Patent EP1572962.
JD500221 - Sequence 481245 from Patent EP1572962.
BC014529 - Homo sapiens TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1, mRNA (cDNA clone IMAGE:3843156), partial cds.
BC053648 - Homo sapiens TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1, mRNA (cDNA clone IMAGE:5553589), partial cds.
AB029031 - Homo sapiens mRNA for KIAA1108 protein, partial cds.
AK027355 - Homo sapiens cDNA FLJ14449 fis, clone HEMBB1001684.
JD507702 - Sequence 488726 from Patent EP1572962.
AK057182 - Homo sapiens cDNA FLJ32620 fis, clone STOMA2000386, highly similar to TBC1 domain family member 1.
AK074954 - Homo sapiens cDNA FLJ90473 fis, clone NT2RP3002571, highly similar to TBC1 domain family member 1.
BC032337 - Homo sapiens TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1, mRNA (cDNA clone IMAGE:5189702), with apparent retained intron.
JD332922 - Sequence 313946 from Patent EP1572962.
JD424821 - Sequence 405845 from Patent EP1572962.
JD524867 - Sequence 505891 from Patent EP1572962.
JD507686 - Sequence 488710 from Patent EP1572962.
JD313061 - Sequence 294085 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A0A8V8TNS9, A0A8V8TNS9_HUMAN, NM_001396959, TBC1D1 , uc331efz.1, uc331efz.2
UCSC ID: ENST00000698857.1_3
RefSeq Accession: NM_001396959.1

-  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.