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 obser... See more...

Aliases for TRAPPC6A Gene

Aliases for TRAPPC6A Gene

  • Trafficking Protein Particle Complex 6A 2 3 5
  • Trafficking Protein Particle Complex Subunit 6A 3 4
  • TRAPP Complex Subunit 6A 3 4
  • TRS33 2 3
  • TRAPPC6A 5
  • MGC2650 2
  • HSPC289 2

External Ids for TRAPPC6A Gene

Previous GeneCards Identifiers for TRAPPC6A Gene

  • GC00U913616
  • GC19M050360
  • GC19M045666
  • GC19M042096

Summaries for TRAPPC6A Gene

Entrez Gene Summary for TRAPPC6A Gene

  • 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]

GeneCards Summary for TRAPPC6A Gene

TRAPPC6A (Trafficking Protein Particle Complex 6A) is a Protein Coding gene. Diseases associated with TRAPPC6A include Spondyloepiphyseal Dysplasia Tarda, X-Linked and Hermansky-Pudlak Syndrome. Among its related pathways are RAB GEFs exchange GTP for GDP on RABs and Transport to the Golgi and subsequent modification. An important paralog of this gene is TRAPPC6B.

UniProtKB/Swiss-Prot Summary for TRAPPC6A Gene

  • May play a role in vesicular transport during the biogenesis of melanosomes.

Additional gene information for TRAPPC6A Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TRAPPC6A Gene

Genomics for TRAPPC6A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TRAPPC6A Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TRAPPC6A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TRAPPC6A

Top Transcription factor binding sites by QIAGEN in the TRAPPC6A gene promoter:
  • AP-2rep
  • AREB6
  • ER-alpha
  • NF-1
  • NF-1/L
  • Olf-1

Genomic Locations for TRAPPC6A Gene

Genomic Locations for TRAPPC6A Gene
chr19:45,162,928-45,179,266
(GRCh38/hg38)
Size:
16,339 bases
Orientation:
Minus strand
chr19:45,666,186-45,681,495
(GRCh37/hg19)
Size:
15,310 bases
Orientation:
Minus strand

Genomic View for TRAPPC6A Gene

Genes around TRAPPC6A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TRAPPC6A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TRAPPC6A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TRAPPC6A Gene

Proteins for TRAPPC6A Gene

  • Protein details for TRAPPC6A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75865-TPC6A_HUMAN
    Recommended name:
    Trafficking protein particle complex subunit 6A
    Protein Accession:
    O75865
    Secondary Accessions:
    • K7ERB1
    • K7ERQ4
    • Q9BQ45
    • Q9P092

    Protein attributes for TRAPPC6A Gene

    Size:
    159 amino acids
    Molecular mass:
    17605 Da
    Quaternary structure:
    • Part of the multisubunit transport protein particle (TRAPP) complex. Heterodimer with TRAPPC3 (PubMed:16828797, PubMed:16262728). The heterodimer TRAPPC3-TRAPPC6A interacts with TRAPPC2L. Interacts with TRAPPC2L (PubMed:19416478).
    SequenceCaution:
    • Sequence=AAC62259.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=AAF28967.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TRAPPC6A Gene

    Alternative splice isoforms for TRAPPC6A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TRAPPC6A Gene

Post-translational modifications for TRAPPC6A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TRAPPC6A Gene

Antibody Products

  • Biorbyt antibodies for TRAPPC6A
  • Santa Cruz Biotechnology (SCBT) Antibodies for TRAPPC6A

No data available for DME Specific Peptides for TRAPPC6A Gene

Domains & Families for TRAPPC6A Gene

Gene Families for TRAPPC6A Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for TRAPPC6A Gene

InterPro:
Blocks:
  • Transport protein particle (TRAPP) component, Bet3
ProtoNet:

Suggested Antigen Peptide Sequences for TRAPPC6A Gene

GenScript: Design optimal peptide antigens:
  • Trafficking protein particle complex 6A, isoform CRA_a (B7TZ90_HUMAN)
  • Trafficking protein particle complex subunit 6A (TPC6A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O75865

UniProtKB/Swiss-Prot:

TPC6A_HUMAN :
  • Belongs to the TRAPP small subunits family. BET3 subfamily.
Family:
  • Belongs to the TRAPP small subunits family. BET3 subfamily.
genes like me logo Genes that share domains with TRAPPC6A: view

Function for TRAPPC6A Gene

Molecular function for TRAPPC6A Gene

UniProtKB/Swiss-Prot Function:
May play a role in vesicular transport during the biogenesis of melanosomes.

Phenotypes From GWAS Catalog for TRAPPC6A Gene

Gene Ontology (GO) - Molecular Function for TRAPPC6A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with TRAPPC6A: view
genes like me logo Genes that share phenotypes with TRAPPC6A: view

Animal Model Products

CRISPR Products

miRNA for TRAPPC6A Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TRAPPC6A

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TRAPPC6A Gene

Localization for TRAPPC6A Gene

Subcellular locations from UniProtKB/Swiss-Prot for TRAPPC6A Gene

Golgi apparatus, cis-Golgi network. Endoplasmic reticulum.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TRAPPC6A gene
Compartment Confidence
endoplasmic reticulum 4
cytosol 4
golgi apparatus 4
nucleus 2
endosome 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
lysosome 1

Gene Ontology (GO) - Cellular Components for TRAPPC6A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005801 cis-Golgi network IBA 21873635
GO:0005802 trans-Golgi network IBA 21873635
genes like me logo Genes that share ontologies with TRAPPC6A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TRAPPC6A Gene

Pathways & Interactions for TRAPPC6A Gene

genes like me logo Genes that share pathways with TRAPPC6A: view

Gene Ontology (GO) - Biological Process for TRAPPC6A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006888 ER to Golgi vesicle-mediated transport IBA 21873635
GO:0016192 vesicle-mediated transport IEA --
GO:0043087 regulation of GTPase activity IEA --
GO:0043473 pigmentation IEA --
GO:0048193 Golgi vesicle transport IEA --
genes like me logo Genes that share ontologies with TRAPPC6A: view

No data available for SIGNOR curated interactions for TRAPPC6A Gene

Drugs & Compounds for TRAPPC6A Gene

(1) Drugs for TRAPPC6A Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
S-palmitoyl-L-cysteine Experimental Pharma Target 0
genes like me logo Genes that share compounds with TRAPPC6A: view

Transcripts for TRAPPC6A Gene

mRNA/cDNA for TRAPPC6A Gene

4 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TRAPPC6A

Alternative Splicing Database (ASD) splice patterns (SP) for TRAPPC6A Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c
SP1: -
SP2:
SP3: - -

Relevant External Links for TRAPPC6A Gene

GeneLoc Exon Structure for
TRAPPC6A

Expression for TRAPPC6A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TRAPPC6A Gene

Protein differential expression in normal tissues from HIPED for TRAPPC6A Gene

This gene is overexpressed in Serum (67.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TRAPPC6A Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TRAPPC6A

SOURCE GeneReport for Unigene cluster for TRAPPC6A Gene:

Hs.466929

Evidence on tissue expression from TISSUES for TRAPPC6A Gene

  • Blood(4.2)
  • Lung(4.2)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with TRAPPC6A: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TRAPPC6A Gene

Orthologs for TRAPPC6A Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TRAPPC6A Gene

Organism Taxonomy Gene Similarity Type Details
Dog
(Canis familiaris)
Mammalia TRAPPC6A 30 31
  • 88.89 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TRAPPC6A 30 31
  • 88.4 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Trappc6a 30
  • 85.74 (n)
Mouse
(Mus musculus)
Mammalia Trappc6a 30 17 31
  • 85.12 (n)
OneToOne
Chimpanzee
(Pan troglodytes)
Mammalia TRAPPC6A 31
  • 71 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia TRAPPC6A 31
  • 68 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia TRAPPC6A 31
  • 42 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii trappc6bl 31
  • 56 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG6196 31
  • 41 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea trpp-6 31
  • 36 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TRS33 31
  • 17 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 55 (a)
OneToMany
Species where no ortholog for TRAPPC6A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for TRAPPC6A Gene

ENSEMBL:
Gene Tree for TRAPPC6A (if available)
TreeFam:
Gene Tree for TRAPPC6A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TRAPPC6A: view image

Paralogs for TRAPPC6A Gene

Paralogs for TRAPPC6A Gene

(1) SIMAP similar genes for TRAPPC6A Gene using alignment to 2 proteins:

  • TPC6A_HUMAN
  • B7TZ90_HUMAN

Pseudogenes.org Pseudogenes for TRAPPC6A Gene

genes like me logo Genes that share paralogs with TRAPPC6A: view

Variants for TRAPPC6A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TRAPPC6A Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
805851 Uncertain Significance: not provided 45,164,241(-) A/T MISSENSE_VARIANT
rs116105443 Likely Benign: Hermansky-Pudlak syndrome 45,178,835(-) C/G INTRON_VARIANT
rs116448245 Likely Benign: Hermansky-Pudlak syndrome 45,178,784(-) A/T FIVE_PRIME_UTR_VARIANT
rs543407501 Uncertain Significance: Hermansky-Pudlak syndrome 45,178,799(-) C/T FIVE_PRIME_UTR_VARIANT
rs59215448 Likely Benign: Hermansky-Pudlak syndrome 45,178,770(-) G/A FIVE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for TRAPPC6A Gene

Structural Variations from Database of Genomic Variants (DGV) for TRAPPC6A Gene

Variant ID Type Subtype PubMed ID
esv1005203 CNV deletion 20482838
esv2422482 CNV duplication 17116639
esv2668324 CNV deletion 23128226
esv3644500 CNV loss 21293372
nsv828565 CNV gain 20364138
nsv833842 CNV loss 17160897
nsv833843 CNV loss 17160897
nsv953587 CNV deletion 24416366

Variation tolerance for TRAPPC6A Gene

Residual Variation Intolerance Score: 89.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.32; 26.14% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TRAPPC6A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TRAPPC6A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TRAPPC6A Gene

Disorders for TRAPPC6A Gene

MalaCards: The human disease database

(3) MalaCards diseases for TRAPPC6A Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
spondyloepiphyseal dysplasia tarda, x-linked
  • sedt
hermansky-pudlak syndrome
  • albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
spinal muscular atrophy, type iv
  • sma4
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for TRAPPC6A

genes like me logo Genes that share disorders with TRAPPC6A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TRAPPC6A Gene

Publications for TRAPPC6A Gene

  1. Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae. (PMID: 19197348) Lowe JK … Friedman JM (PLoS genetics 2009) 3 41
  2. Structure of the Bet3-Tpc6B core of TRAPP: two Tpc6 paralogs form trimeric complexes with Bet3 and Mum2. (PMID: 16828797) Kümmel D … Heinemann U (Journal of molecular biology 2006) 3 4
  3. Biochemical and crystallographic studies reveal a specific interaction between TRAPP subunits Trs33p and Bet3p. (PMID: 16262728) Kim MS … Sacher M (Traffic (Copenhagen, Denmark) 2005) 3 4
  4. The DNA sequence and biology of human chromosome 19. (PMID: 15057824) Grimwood J … Lucas SM (Nature 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for TRAPPC6A Gene

  • Biorbyt antibodies for TRAPPC6A

Sources for TRAPPC6A Gene