Human Gene TRAPPC6A (ENST00000588062.5) from GENCODE V44
  Description: Homo sapiens trafficking protein particle complex 6A (TRAPPC6A), transcript variant 4, mRNA. (from RefSeq NM_001270893)
RefSeq Summary (NM_001270893): This gene encodes a component of the trafficking protein particle complex, which tethers transport vesicles to the cis-Golgi membrane. Loss of expression of the related gene in mouse affects coat and eye pigmentation, suggesting that the encoded protein may be involved in melanosome biogenesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012].
Gencode Transcript: ENST00000588062.5
Gencode Gene: ENSG00000007255.10
Transcript (Including UTRs)
   Position: hg38 chr19:45,162,928-45,178,237 Size: 15,310 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg38 chr19:45,163,954-45,178,218 Size: 14,265 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:45,162,928-45,178,237)mRNA (may differ from genome)Protein (113 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TPC6A_HUMAN
DESCRIPTION: RecName: Full=Trafficking protein particle complex subunit 6A; Short=TRAPP complex subunit 6A;
FUNCTION: May play a role in vesicular transport during the biogenesis of melanosomes (By similarity).
SUBUNIT: Part of the multisubunit TRAPP (transport protein particle) complex. Heterodimer with TRAPPC3. The heterodimer TRAPPC3-TRAPPC6A interacts with TRAPPC2L. Interacts with TRAPPC2L.
SUBCELLULAR LOCATION: Golgi apparatus, cis-Golgi network (By similarity). Endoplasmic reticulum (By similarity).
SIMILARITY: Belongs to the TRAPP small subunits family. BET3 subfamily.
SEQUENCE CAUTION: Sequence=AAC62259.1; Type=Erroneous initiation; Sequence=AAF28967.1; Type=Erroneous initiation;

-  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           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 48.25 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 798.03 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 -2.8019-0.147 Picture PostScript Text
3' UTR -142.50334-0.427 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
IPR024096 - NO_sig/Golgi_transp_ligand-bd
IPR007194 - TRAPP_component

Pfam Domains:
PF04051 - Transport protein particle (TRAPP) component

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2C0J - X-ray 2J3T - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on O75865
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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
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0017112 Rab guanyl-nucleotide exchange factor activity

Biological Process:
GO:0006888 ER to Golgi vesicle-mediated transport
GO:0016192 vesicle-mediated transport
GO:0043087 regulation of GTPase activity
GO:0043473 pigmentation
GO:0048193 Golgi vesicle transport
GO:0048208 COPII vesicle coating
GO:1903232 melanosome assembly

Cellular Component:
GO:0000139 Golgi membrane
GO:0005783 endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0005801 cis-Golgi network
GO:0005802 trans-Golgi network
GO:0005829 cytosol
GO:0030008 TRAPP complex


-  Descriptions from all associated GenBank mRNAs
  BC001907 - Homo sapiens trafficking protein particle complex 6A, mRNA (cDNA clone MGC:2650 IMAGE:3534111), complete cds.
JD338830 - Sequence 319854 from Patent EP1572962.
JD508755 - Sequence 489779 from Patent EP1572962.
BC004450 - Homo sapiens trafficking protein particle complex 6A, mRNA (cDNA clone MGC:4188 IMAGE:2820830), complete cds.
AF161407 - Homo sapiens HSPC289 mRNA, partial cds.
JD367770 - Sequence 348794 from Patent EP1572962.
JD518950 - Sequence 499974 from Patent EP1572962.
JD174846 - Sequence 155870 from Patent EP1572962.
JD117751 - Sequence 98775 from Patent EP1572962.
JD271485 - Sequence 252509 from Patent EP1572962.
JD252487 - Sequence 233511 from Patent EP1572962.
JD086353 - Sequence 67377 from Patent EP1572962.
FJ418644 - Homo sapiens TRAPPC6Adelta29-42 mRNA, complete cds.

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

Protein O75865 (Reactome details) participates in the following event(s):

R-HSA-5694439 COPII coat binds TRAPPCII and RAB1:GDP
R-HSA-5694441 CSNK1D phosphorylates SEC23
R-HSA-5694418 RAB1:GTP binds USO1 and GORASP1:GOLGA2
R-HSA-5694409 Nucleotide exchange on RAB1
R-HSA-8877475 TRAPPC complexes exchange GTP for GDP on RAB1
R-HSA-204005 COPII-mediated vesicle transport
R-HSA-199977 ER to Golgi Anterograde Transport
R-HSA-8876198 RAB GEFs exchange GTP for GDP on RABs
R-HSA-199991 Membrane Trafficking
R-HSA-948021 Transport to the Golgi and subsequent modification
R-HSA-9007101 Rab regulation of trafficking
R-HSA-5653656 Vesicle-mediated transport
R-HSA-446203 Asparagine N-linked glycosylation
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000588062.1, ENST00000588062.2, ENST00000588062.3, ENST00000588062.4, HSPC289, NM_001270893, O75865, Q9BQ45, Q9P092, TPC6A_HUMAN, uc031rlh.1, uc031rlh.2
UCSC ID: ENST00000588062.5
RefSeq Accession: NM_001270893
Protein: O75865 (aka TPC6A_HUMAN)
CCDS: CCDS59396.1

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