Human Gene TBC1D14 (uc003gjs.4)
  Description: Homo sapiens TBC1 domain family, member 14 (TBC1D14), transcript variant 1, mRNA.
Transcript (Including UTRs)
   Position: hg19 chr4:6,911,495-7,034,845 Size: 123,351 Total Exon Count: 14 Strand: +
Coding Region
   Position: hg19 chr4:6,925,117-7,032,119 Size: 107,003 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:6,911,495-7,034,845)mRNA (may differ from genome)Protein (693 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCHPRDLynxMGIneXtProt
OMIMPubMedReactomeUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TBC14_HUMAN
DESCRIPTION: RecName: Full=TBC1 domain family member 14;
FUNCTION: May act as a GTPase-activating protein for Rab family protein(s) (By similarity).
SIMILARITY: Contains 1 Rab-GAP TBC domain.
SEQUENCE CAUTION: Sequence=AAH41167.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAA92560.1; 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


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): TBC1D14
CDC HuGE Published Literature: TBC1D14

-  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: 28.99 RPKM in Stomach
Total median expression: 786.36 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 -114.50201-0.570 Picture PostScript Text
3' UTR -1009.842726-0.370 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

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2QQ8 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9P2M4
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 orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Ensembl   
  Protein Sequence   
  Alignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005096 GTPase activator activity
GO:0005515 protein binding
GO:0017137 Rab GTPase binding
GO:0019901 protein kinase binding

Biological Process:
GO:0006886 intracellular protein transport
GO:0010507 negative regulation of autophagy
GO:0031338 regulation of vesicle fusion
GO:0071955 recycling endosome to Golgi transport
GO:0090630 activation of GTPase activity
GO:2000785 regulation of autophagosome assembly
GO:1902017 regulation of cilium assembly

Cellular Component:
GO:0005654 nucleoplasm
GO:0005776 autophagosome
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0043231 intracellular membrane-bounded organelle
GO:0055037 recycling endosome


-  Descriptions from all associated GenBank mRNAs
  BC041167 - Homo sapiens TBC1 domain family, member 14, mRNA (cDNA clone MGC:48919 IMAGE:5575580), complete cds.
AB037743 - Homo sapiens KIAA1322 mRNA for KIAA1322 protein.
AB384176 - Synthetic construct DNA, clone: pF1KSDA1322, Homo sapiens TBC1D14 gene for TBC1 domain family member 14, complete cds, without stop codon, in Flexi system.
AB449900 - Homo sapiens TBC1D14 mRNA for TBC1 domain family, member 14, complete cds.
CU691976 - Synthetic construct Homo sapiens gateway clone IMAGE:100021244 5' read TBC1D14 mRNA.
JF432420 - Synthetic construct Homo sapiens clone IMAGE:100073626 TBC1 domain family, member 14 (TBC1D14) gene, encodes complete protein.
KJ902966 - Synthetic construct Homo sapiens clone ccsbBroadEn_12360 TBC1D14 gene, encodes complete protein.
JD479919 - Sequence 460943 from Patent EP1572962.
JD226604 - Sequence 207628 from Patent EP1572962.
JD518972 - Sequence 499996 from Patent EP1572962.
JD386526 - Sequence 367550 from Patent EP1572962.
JD116257 - Sequence 97281 from Patent EP1572962.
AL833868 - Homo sapiens mRNA; cDNA DKFZp434K102 (from clone DKFZp434K102).
AK295068 - Homo sapiens cDNA FLJ55205 complete cds, highly similar to TBC1 domain family member 14.
AK056962 - Homo sapiens cDNA FLJ32400 fis, clone SKMUS2000317, weakly similar to Drainin.
DQ589025 - Homo sapiens piRNA piR-56137, complete sequence.
JD408330 - Sequence 389354 from Patent EP1572962.
JD141386 - Sequence 122410 from Patent EP1572962.
JD334685 - Sequence 315709 from Patent EP1572962.
JD383310 - Sequence 364334 from Patent EP1572962.
JD442225 - Sequence 423249 from Patent EP1572962.
JD558531 - Sequence 539555 from Patent EP1572962.
DQ596706 - Homo sapiens piRNA piR-34772, complete sequence.
DL492356 - Novel nucleic acids.
DL490845 - Novel nucleic acids.
JD535951 - Sequence 516975 from Patent EP1572962.
DQ579384 - Homo sapiens piRNA piR-47496, complete sequence.
JD280580 - Sequence 261604 from Patent EP1572962.
JD302243 - Sequence 283267 from Patent EP1572962.
JD389604 - Sequence 370628 from Patent EP1572962.
JD068324 - Sequence 49348 from Patent EP1572962.
JD343948 - Sequence 324972 from Patent EP1572962.
JD282035 - Sequence 263059 from Patent EP1572962.
JD134590 - Sequence 115614 from Patent EP1572962.
JD506914 - Sequence 487938 from Patent EP1572962.
JD500941 - Sequence 481965 from Patent EP1572962.
JD504073 - Sequence 485097 from Patent EP1572962.
JD260651 - Sequence 241675 from Patent EP1572962.
JD475943 - Sequence 456967 from Patent EP1572962.
JD402654 - Sequence 383678 from Patent EP1572962.
JD252068 - Sequence 233092 from Patent EP1572962.
JD543623 - Sequence 524647 from Patent EP1572962.
BC024966 - Homo sapiens TBC1 domain family, member 14, mRNA (cDNA clone IMAGE:4940397), partial cds.
JD212090 - Sequence 193114 from Patent EP1572962.
JD177237 - Sequence 158261 from Patent EP1572962.
JD200237 - Sequence 181261 from Patent EP1572962.
JD270796 - Sequence 251820 from Patent EP1572962.
DL491535 - Novel nucleic acids.
JD108473 - Sequence 89497 from Patent EP1572962.
DL490141 - Novel nucleic acids.
JD166268 - Sequence 147292 from Patent EP1572962.
JD132257 - Sequence 113281 from Patent EP1572962.
JD549858 - Sequence 530882 from Patent EP1572962.
JD530274 - Sequence 511298 from Patent EP1572962.
JD436750 - Sequence 417774 from Patent EP1572962.
DL491277 - Novel nucleic acids.
DL489917 - Novel nucleic acids.
JD233126 - Sequence 214150 from Patent EP1572962.
JD405412 - Sequence 386436 from Patent EP1572962.
JD544832 - Sequence 525856 from Patent EP1572962.
JD390027 - Sequence 371051 from Patent EP1572962.
JD390028 - Sequence 371052 from Patent EP1572962.
JD393837 - Sequence 374861 from Patent EP1572962.
JD507541 - Sequence 488565 from Patent EP1572962.
JD065962 - Sequence 46986 from Patent EP1572962.
JD381793 - Sequence 362817 from Patent EP1572962.
JD517277 - Sequence 498301 from Patent EP1572962.
JD105424 - Sequence 86448 from Patent EP1572962.
JD093501 - Sequence 74525 from Patent EP1572962.

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

Protein Q9P2M4 (Reactome details) participates in the following event(s):

R-HSA-8854759 TBC1D14 binds RAB11 and ULK1
R-HSA-8854214 TBC/RABGAPs
R-HSA-9007101 Rab regulation of trafficking
R-HSA-199991 Membrane Trafficking
R-HSA-5653656 Vesicle-mediated transport

-  Other Names for This Gene
  Alternate Gene Symbols: B9A6L5, D3DVT4, E9PAZ6, KIAA1322, NM_020773, NP_065824, Q8IW15, Q8NDK3, Q9P2M4, TBC14_HUMAN
UCSC ID: uc003gjs.4
RefSeq Accession: NM_020773
Protein: Q9P2M4 (aka TBC14_HUMAN or TB14_HUMAN)
CCDS: CCDS3394.2

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_020773.2
exon count: 14CDS single in 3' UTR: no RNA size: 5009
ORF size: 2082CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 4343.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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.