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Aliases for TRAPPC10 Gene

Aliases for TRAPPC10 Gene

  • Trafficking Protein Particle Complex 10 2 3 5
  • Trafficking Protein Particle Complex Subunit TMEM1 3 4
  • Trafficking Protein Particle Complex Subunit 130 2 3
  • Transport Protein Particle Subunit TMEM1 3 4
  • Transmembrane Protein 1 2 3
  • TRAPP 130 KDa Subunit 2 3
  • TRAPP Subunit TMEM1 3 4
  • EHOC-1 3 4
  • TMEM1 3 4
  • EHOC1 3 4
  • Trafficking Protein Particle Complex Subunit 10 3
  • Epilepsy Holoprosencephaly Candidate-1 Protein 3
  • Epilepsy Holoprosencephaly Candidate 1 Protein 4
  • Protein GT334 4
  • TRS130 3
  • GT334 3
  • TRS30 3

External Ids for TRAPPC10 Gene

Previous HGNC Symbols for TRAPPC10 Gene

  • TMEM1

Previous GeneCards Identifiers for TRAPPC10 Gene

  • GC00U913620
  • GC21P044257
  • GC21P045432
  • GC21P030802

Summaries for TRAPPC10 Gene

Entrez Gene Summary for TRAPPC10 Gene

  • The protein encoded by this gene is a transmembrane protein found in the cis-Golgi complex. The encoded protein is part of the multisubunit transport protein particle (TRAPP) complex and may be involved in vesicular transport from the endoplasmic reticulum to the Golgi. Mutations in this gene could be responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy, or for autoimmune polyglandular disease type 1. [provided by RefSeq, Jul 2008]

GeneCards Summary for TRAPPC10 Gene

TRAPPC10 (Trafficking Protein Particle Complex 10) is a Protein Coding gene. Diseases associated with TRAPPC10 include Progressive Myoclonus Epilepsy and Holoprosencephaly 1. Among its related pathways are Transport to the Golgi and subsequent modification and RAB GEFs exchange GTP for GDP on RABs. GO annotations related to this gene include sodium ion transmembrane transporter activity. An important paralog of this gene is LOC102724200.

UniProtKB/Swiss-Prot for TRAPPC10 Gene

  • May play a role in vesicular transport from endoplasmic reticulum to Golgi.

Gene Wiki entry for TRAPPC10 Gene

Additional gene information for TRAPPC10 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TRAPPC10 Gene

Genomics for TRAPPC10 Gene

Regulatory Elements for TRAPPC10 Gene

Enhancers for TRAPPC10 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH21H044137 2 FANTOM5 Ensembl ENCODE dbSUPER 22.9 +130.2 130206 11 HNRNPUL1 HDGF PKNOX1 ARID4B SIN3A ZNF2 YY1 ZNF207 ZNF143 DEK PWP2 ICOSLG TRAPPC10 UBE2G2 RRP1B MTND5P1 PFKL C21orf2 TRPM2 PDXK
GH21H043882 1.6 Ensembl ENCODE dbSUPER 21.5 -128.4 -128395 4 HDGF FOXA2 ARNT ARID4B SIN3A ZNF766 ZNF207 FOS SP3 ZNF592 TRAPPC10 RNU6-859P UBE2G2 PWP2 TRPM2 ENSG00000184441 RRP1B AATBC GC21M043897 AGPAT3
GH21H043974 1.5 Ensembl ENCODE dbSUPER 22.4 -36.8 -36841 0 HDGF ATF1 ARNT SIN3A YBX1 GLI4 TCF12 CBX5 ZNF207 ZNF143 RRP1B PWP2 U2AF1 TRAPPC10 AATBC SIK1 UBE2G2 RNU6-859P AGPAT3 RRP1
GH21H044064 1.2 FANTOM5 ENCODE dbSUPER 20.1 +53.2 53201 2 POLR2A MAX ZBTB33 FOXP2 CEBPG CREM EGR2 PWP2 TRAPPC10 PFKL C21orf2 H2AFZP1 PIR47770
GH21H043658 1.4 FANTOM5 ENCODE 16.3 -352.1 -352146 2 HDGF MLX ARNT ARID4B SIN3A DMAP1 ZNF2 SLC30A9 ZNF207 ZNF143 WDR4 U2AF1 PWP2 RRP1B ENSG00000184441 ENSG00000233754 PKNOX1 HSF2BP TRAPPC10 PDXK
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TRAPPC10 on UCSC Golden Path with GeneCards custom track

Promoters for TRAPPC10 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000143000 281 2401 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF766 ZNF143 ZNF207 SP3 SP5

Genomic Location for TRAPPC10 Gene

Chromosome:
21
Start:
44,012,319 bp from pter
End:
44,106,552 bp from pter
Size:
94,234 bases
Orientation:
Plus strand

Genomic View for TRAPPC10 Gene

Genes around TRAPPC10 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TRAPPC10 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TRAPPC10 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TRAPPC10 Gene

Proteins for TRAPPC10 Gene

  • Protein details for TRAPPC10 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P48553-TPC10_HUMAN
    Recommended name:
    Trafficking protein particle complex subunit 10
    Protein Accession:
    P48553
    Secondary Accessions:
    • Q3MIR2
    • Q86SI7
    • Q9UMD4
    • Q9Y4L3

    Protein attributes for TRAPPC10 Gene

    Size:
    1259 amino acids
    Molecular mass:
    142189 Da
    Quaternary structure:
    • Component of the multisubunit TRAPP (transport protein particle) complex, which includes at least TRAPPC2, TRAPPC2L, TRAPPC3, TRAPPC3L, TRAPPC4, TRAPPC5, TRAPPC8, TRAPPC9, TRAPPC10, TRAPPC11 and TRAPPC12.
    SequenceCaution:
    • Sequence=AAC50134.1; Type=Frameshift; Positions=1187; Evidence={ECO:0000305};

    Alternative splice isoforms for TRAPPC10 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TRAPPC10 Gene

Post-translational modifications for TRAPPC10 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for TRAPPC10 Gene

Domains & Families for TRAPPC10 Gene

Gene Families for TRAPPC10 Gene

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

Protein Domains for TRAPPC10 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TRAPPC10 Gene

Graphical View of Domain Structure for InterPro Entry

P48553

UniProtKB/Swiss-Prot:

TPC10_HUMAN :
  • Belongs to the TMEM1 family.
Family:
  • Belongs to the TMEM1 family.
genes like me logo Genes that share domains with TRAPPC10: view

Function for TRAPPC10 Gene

Molecular function for TRAPPC10 Gene

UniProtKB/Swiss-Prot Function:
May play a role in vesicular transport from endoplasmic reticulum to Golgi.

Phenotypes From GWAS Catalog for TRAPPC10 Gene

Gene Ontology (GO) - Molecular Function for TRAPPC10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21273506
GO:0015081 sodium ion transmembrane transporter activity TAS 7633421
GO:0017112 Rab guanyl-nucleotide exchange factor activity TAS --
genes like me logo Genes that share ontologies with TRAPPC10: view
genes like me logo Genes that share phenotypes with TRAPPC10: view

Animal Models for TRAPPC10 Gene

MGI Knock Outs for TRAPPC10:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TRAPPC10
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TRAPPC10 Gene

Localization for TRAPPC10 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TRAPPC10 Gene

Golgi apparatus, cis-Golgi network.

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 TRAPPC10 gene
Compartment Confidence
cytosol 5
golgi apparatus 4
endosome 4
nucleus 3
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for TRAPPC10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005829 cytosol TAS --
GO:0016021 integral component of membrane TAS 9196060
GO:0030008 TRAPP complex IDA 21525244
genes like me logo Genes that share ontologies with TRAPPC10: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TRAPPC10 Gene

Pathways & Interactions for TRAPPC10 Gene

genes like me logo Genes that share pathways with TRAPPC10: view

Gene Ontology (GO) - Biological Process for TRAPPC10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006814 sodium ion transport TAS 7633421
GO:0006891 intra-Golgi vesicle-mediated transport IBA --
GO:0016192 vesicle-mediated transport IEA --
GO:0034498 early endosome to Golgi transport IBA --
genes like me logo Genes that share ontologies with TRAPPC10: view

No data available for SIGNOR curated interactions for TRAPPC10 Gene

Drugs & Compounds for TRAPPC10 Gene

(2) Drugs for TRAPPC10 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with TRAPPC10: view

Transcripts for TRAPPC10 Gene

Unigene Clusters for TRAPPC10 Gene

Trafficking protein particle complex 10:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TRAPPC10
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for TRAPPC10 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20a · 20b · 20c ^ 21a · 21b ^ 22 ^
SP1: - - - -
SP2: -
SP3: -
SP4:
SP5: -
SP6:

ExUns: 23 ^ 24 ^ 25
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:

Relevant External Links for TRAPPC10 Gene

GeneLoc Exon Structure for
TRAPPC10
ECgene alternative splicing isoforms for
TRAPPC10

Expression for TRAPPC10 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TRAPPC10 Gene

Protein differential expression in normal tissues from HIPED for TRAPPC10 Gene

This gene is overexpressed in Urine (14.7), Peripheral blood mononuclear cells (10.8), and Lymph node (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TRAPPC10 Gene



Protein tissue co-expression partners for TRAPPC10 Gene

NURSA nuclear receptor signaling pathways regulating expression of TRAPPC10 Gene:

TRAPPC10

SOURCE GeneReport for Unigene cluster for TRAPPC10 Gene:

Hs.126221

mRNA Expression by UniProt/SwissProt for TRAPPC10 Gene:

P48553-TPC10_HUMAN
Tissue specificity: Expressed in all tissues examined.

Evidence on tissue expression from TISSUES for TRAPPC10 Gene

  • Nervous system(4.4)
  • Liver(4.2)
genes like me logo Genes that share expression patterns with TRAPPC10: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for TRAPPC10 Gene

Orthologs for TRAPPC10 Gene

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

Orthologs for TRAPPC10 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TRAPPC10 33 34
  • 99.52 (n)
dog
(Canis familiaris)
Mammalia TRAPPC10 33 34
  • 87.66 (n)
cow
(Bos Taurus)
Mammalia TRAPPC10 33 34
  • 86.18 (n)
oppossum
(Monodelphis domestica)
Mammalia TRAPPC10 34
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TRAPPC10 34
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Trappc10 33 16 34
  • 84.95 (n)
rat
(Rattus norvegicus)
Mammalia Trappc10 33
  • 84.38 (n)
chicken
(Gallus gallus)
Aves TRAPPC10 33 34
  • 76.82 (n)
lizard
(Anolis carolinensis)
Reptilia TRAPPC10 34
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia trappc10 33
  • 66.91 (n)
zebrafish
(Danio rerio)
Actinopterygii trappc10 33
  • 63.85 (n)
TRAPPC10 34
  • 61 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002242 33
  • 47.37 (n)
fruit fly
(Drosophila melanogaster)
Insecta SIDL 33 34
  • 45.17 (n)
worm
(Caenorhabditis elegans)
Secernentea trpp-10 34
  • 18 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TRS130 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 41 (a)
OneToOne
Species where no ortholog for TRAPPC10 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • 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 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)
  • wheat (Triticum aestivum)

Evolution for TRAPPC10 Gene

ENSEMBL:
Gene Tree for TRAPPC10 (if available)
TreeFam:
Gene Tree for TRAPPC10 (if available)

Paralogs for TRAPPC10 Gene

Paralogs for TRAPPC10 Gene

genes like me logo Genes that share paralogs with TRAPPC10: view

Variants for TRAPPC10 Gene

Sequence variations from dbSNP and Humsavar for TRAPPC10 Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type
rs386352376 Uncertain significance 44,091,981(+) CAGAT(A/G/T)GTTAT intron-variant, nc-transcript-variant, reference, missense
rs1000056650 -- 44,042,748(+) TTTCT(C/G)TTTCT intron-variant
rs1000087313 -- 44,030,253(+) TGTGT(C/G)TGTGT intron-variant
rs1000108698 -- 44,043,160(+) GGTTC(C/T)ATTGA intron-variant
rs1000136016 -- 44,054,864(+) GAGCA(A/G)TTGGG intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for TRAPPC10 Gene

Variant ID Type Subtype PubMed ID
esv25124 CNV gain 19812545
esv2723627 CNV deletion 23290073
esv33817 CNV loss 17666407
esv3557795 CNV deletion 23714750
esv3575397 CNV gain 25503493
nsv1063752 CNV gain 25217958
nsv1118936 CNV deletion 24896259
nsv1139033 CNV deletion 24896259
nsv1139034 CNV deletion 24896259
nsv587721 CNV loss 21841781
nsv587722 CNV loss 21841781

Variation tolerance for TRAPPC10 Gene

Residual Variation Intolerance Score: 15.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.72; 83.09% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TRAPPC10 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TRAPPC10

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TRAPPC10 Gene

Disorders for TRAPPC10 Gene

MalaCards: The human disease database

(2) MalaCards diseases for TRAPPC10 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
progressive myoclonus epilepsy
  • unverricht-lundborg syndrome
holoprosencephaly 1
  • hpe1
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for TRAPPC10

Genetic Association Database (GAD)
TRAPPC10
Human Genome Epidemiology (HuGE) Navigator
TRAPPC10
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TRAPPC10
genes like me logo Genes that share disorders with TRAPPC10: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TRAPPC10 Gene

Publications for TRAPPC10 Gene

  1. Isolation and characterization of a candidate gene for progressive myoclonus epilepsy on 21q22.3. (PMID: 7633421) Yamakawa K … Korenberg JR (Human molecular genetics 1995) 2 3 4 22 60
  2. Genomic organization and complete nucleotide sequence of the TMEM1 gene on human chromosome 21q22.3. (PMID: 9196060) Nagamine K … Shimizu N (Biochemical and biophysical research communications 1997) 3 4 22 60
  3. Genomic structure of the human GT334 (EHOC-1) gene mapping to 21q22.3. (PMID: 9370297) Lafrenière RG … Rouleau GA (Gene 1997) 3 4 22 60
  4. C4orf41 and TTC-15 are mammalian TRAPP components with a role at an early stage in ER-to-Golgi trafficking. (PMID: 21525244) Scrivens PJ … Sacher M (Molecular biology of the cell 2011) 3 4 60
  5. L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms. (PMID: 20424473) Yokoyama K … Hosoya T (Nephron. Clinical practice 2010) 3 45 60

Products for TRAPPC10 Gene

Sources for TRAPPC10 Gene

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