Human Gene TBC1D19 (ENST00000264866.9_4) from GENCODE V47lift37
  Description: TBC1 domain family member 19, transcript variant 1 (from RefSeq NM_018317.4)
Gencode Transcript: ENST00000264866.9_4
Gencode Gene: ENSG00000109680.11_10
Transcript (Including UTRs)
   Position: hg19 chr4:26,585,706-26,757,845 Size: 172,140 Total Exon Count: 21 Strand: +
Coding Region
   Position: hg19 chr4:26,585,816-26,756,569 Size: 170,754 Coding Exon Count: 21 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:26,585,706-26,757,845)mRNA (may differ from genome)Protein (526 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMGIPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TBC19_HUMAN
DESCRIPTION: RecName: Full=TBC1 domain family member 19;
FUNCTION: May act as a GTPase-activating protein for Rab family protein(s).
SIMILARITY: Contains 1 Rab-GAP TBC domain.

-  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


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

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 4.01 RPKM in Uterus
Total median expression: 96.71 RPKM



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

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -43.10110-0.392 Picture PostScript Text
3' UTR -297.601276-0.233 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
IPR000195 - Rab-GTPase-TBC_dom

Pfam Domains:
PF00566 - Rab-GTPase-TBC domain

SCOP Domains:
47923 - Ypt/Rab-GAP domain of gyp1p

ModBase Predicted Comparative 3D Structure on Q8N5T2
FrontTopSide
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  
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005096 GTPase activator activity
GO:0005515 protein binding

Biological Process:
GO:0043547 positive regulation of GTPase activity
GO:1902017 regulation of cilium assembly


-  Descriptions from all associated GenBank mRNAs
  AK310795 - Homo sapiens cDNA, FLJ17837.
AK225395 - Homo sapiens mRNA for TBC1 domain family member 19 variant, clone: HRC05849.
AK289631 - Homo sapiens cDNA FLJ78496 complete cds, highly similar to Homo sapiens TBC1 domain family, member 19, mRNA.
AK001944 - Homo sapiens cDNA FLJ11082 fis, clone PLACE1005206.
BC031642 - Homo sapiens TBC1 domain family, member 19, mRNA (cDNA clone MGC:34295 IMAGE:5175317), complete cds.
CU689214 - Synthetic construct Homo sapiens gateway clone IMAGE:100020315 5' read TBC1D19 mRNA.
KJ894181 - Synthetic construct Homo sapiens clone ccsbBroadEn_03575 TBC1D19 gene, encodes complete protein.
AB449905 - Homo sapiens TBC1D19 mRNA for TBC1 domain family, member 19, complete cds.
JD203119 - Sequence 184143 from Patent EP1572962.
AF075043 - Homo sapiens full length insert cDNA YN66A06.
JD099975 - Sequence 80999 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: B9A6M0, ENST00000264866.1, ENST00000264866.2, ENST00000264866.3, ENST00000264866.4, ENST00000264866.5, ENST00000264866.6, ENST00000264866.7, ENST00000264866.8, NM_018317, Q8N5T2, Q9NUX1, TBC19_HUMAN, uc317hwe.1, uc317hwe.2
UCSC ID: ENST00000264866.9_4
RefSeq Accession: NM_018317.4
Protein: Q8N5T2 (aka TBC19_HUMAN)

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