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Aliases for TRAPPC11 Gene

Aliases for TRAPPC11 Gene

  • Trafficking Protein Particle Complex 11 2 3 5
  • C4orf41 3 4
  • Trafficking Protein Particle Complex Subunit 11 3
  • Chromosome 4 Open Reading Frame 41 2
  • Foie Gras Homolog (Zebrafish) 2
  • Gryzun Homolog (Drosophila) 2
  • Foie Gras Homolog 3
  • Gryzun Homolog 3
  • LGMD2S 3
  • FOIGR 3
  • GRY 3

External Ids for TRAPPC11 Gene

Previous HGNC Symbols for TRAPPC11 Gene

  • C4orf41

Previous GeneCards Identifiers for TRAPPC11 Gene

  • GC04P184581

Summaries for TRAPPC11 Gene

Entrez Gene Summary for TRAPPC11 Gene

  • The protein encoded by this gene is a subunit of the TRAPP (transport protein particle) tethering complex, which functions in intracellular vesicle trafficking. This subunit is involved in early stage endoplasmic reticulum-to-Golgi vesicle transport. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2013]

GeneCards Summary for TRAPPC11 Gene

TRAPPC11 (Trafficking Protein Particle Complex 11) is a Protein Coding gene. Diseases associated with TRAPPC11 include Muscular Dystrophy, Limb-Girdle, Type 2E and Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome.

UniProtKB/Swiss-Prot for TRAPPC11 Gene

  • Involved in endoplasmic reticulum to Golgi apparatus trafficking at a very early stage.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TRAPPC11 Gene

Genomics for TRAPPC11 Gene

Regulatory Elements for TRAPPC11 Gene

Enhancers for TRAPPC11 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
- Elite enhancer/Elite enhancer-gene association

Enhancers around TRAPPC11 on UCSC Golden Path with GeneCards custom track

Promoters for TRAPPC11 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for TRAPPC11 Gene

Chromosome:
4
Start:
183,659,267 bp from pter
End:
183,713,594 bp from pter
Size:
54,328 bases
Orientation:
Plus strand

Genomic View for TRAPPC11 Gene

Genes around TRAPPC11 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TRAPPC11 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TRAPPC11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TRAPPC11 Gene

Proteins for TRAPPC11 Gene

  • Protein details for TRAPPC11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z392-TPC11_HUMAN
    Recommended name:
    Trafficking protein particle complex subunit 11
    Protein Accession:
    Q7Z392
    Secondary Accessions:
    • A4QPB8
    • B2RCD6
    • Q5U5I7
    • Q6FI73
    • Q86T25
    • Q9H0L1
    • Q9H5K9
    • Q9H8Q1
    • Q9H9I7

    Protein attributes for TRAPPC11 Gene

    Size:
    1133 amino acids
    Molecular mass:
    128881 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=BAB14240.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB14556.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB15617.1; Type=Erroneous termination; Positions=1063; Note=Translated as Gln.; Evidence={ECO:0000305}; Sequence=BAG37533.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAB66686.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAD91169.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAD97983.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for TRAPPC11 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TRAPPC11 Gene

Post-translational modifications for TRAPPC11 Gene

  • Ubiquitination at Lys 898 and Lys 1119
  • Modification sites at PhosphoSitePlus

Other Protein References for TRAPPC11 Gene

No data available for DME Specific Peptides for TRAPPC11 Gene

Domains & Families for TRAPPC11 Gene

Gene Families for TRAPPC11 Gene

Protein Domains for TRAPPC11 Gene

Suggested Antigen Peptide Sequences for TRAPPC11 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q7Z392

UniProtKB/Swiss-Prot:

TPC11_HUMAN :
  • Belongs to the TRAPPC11 family.
Family:
  • Belongs to the TRAPPC11 family.
genes like me logo Genes that share domains with TRAPPC11: view

Function for TRAPPC11 Gene

Molecular function for TRAPPC11 Gene

UniProtKB/Swiss-Prot Function:
Involved in endoplasmic reticulum to Golgi apparatus trafficking at a very early stage.

Phenotypes for TRAPPC11 Gene

GenomeRNAi human phenotypes for TRAPPC11:
genes like me logo Genes that share phenotypes with TRAPPC11: view

Human Phenotype Ontology for TRAPPC11 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for TRAPPC11 Gene

miRTarBase miRNAs that target TRAPPC11

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for TRAPPC11 Gene

Localization for TRAPPC11 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TRAPPC11 Gene

Golgi apparatus, cis-Golgi network.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TRAPPC11 Gene COMPARTMENTS Subcellular localization image for TRAPPC11 gene
Compartment Confidence
golgi apparatus 3
cytosol 2
nucleus 2
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for TRAPPC11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IEA --
genes like me logo Genes that share ontologies with TRAPPC11: view

Pathways & Interactions for TRAPPC11 Gene

SuperPathways for TRAPPC11 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TRAPPC11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016192 vesicle-mediated transport IEA --
genes like me logo Genes that share ontologies with TRAPPC11: view

No data available for Pathways by source and SIGNOR curated interactions for TRAPPC11 Gene

Drugs & Compounds for TRAPPC11 Gene

No Compound Related Data Available

Transcripts for TRAPPC11 Gene

Unigene Clusters for TRAPPC11 Gene

Trafficking protein particle complex 11:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TRAPPC11 Gene

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

ExUns: 22 ^ 23 ^ 24 ^ 25 ^ 26a · 26b ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32a · 32b · 32c
SP1: - - -
SP2: - - -
SP3: - -
SP4:
SP5:
SP6:

Relevant External Links for TRAPPC11 Gene

GeneLoc Exon Structure for
TRAPPC11
ECgene alternative splicing isoforms for
TRAPPC11

Expression for TRAPPC11 Gene

mRNA expression in normal human tissues for TRAPPC11 Gene

Protein differential expression in normal tissues from HIPED for TRAPPC11 Gene

This gene is overexpressed in Stomach (7.0) and Lymph node (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TRAPPC11 Gene



Protein tissue co-expression partners for TRAPPC11 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TRAPPC11 Gene:

TRAPPC11

SOURCE GeneReport for Unigene cluster for TRAPPC11 Gene:

Hs.443240
genes like me logo Genes that share expression patterns with TRAPPC11: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for TRAPPC11 Gene

Orthologs for TRAPPC11 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TRAPPC11 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TRAPPC11 34
  • 89.56 (n)
  • 95.32 (a)
TRAPPC11 35
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TRAPPC11 34
  • 92.47 (n)
  • 96.2 (a)
TRAPPC11 35
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Trappc11 34
  • 87.2 (n)
  • 93.65 (a)
Trappc11 16
Trappc11 35
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TRAPPC11 34
  • 99.59 (n)
  • 99.72 (a)
TRAPPC11 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Trappc11 34
  • 88.17 (n)
  • 94.44 (a)
oppossum
(Monodelphis domestica)
Mammalia TRAPPC11 35
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 68 (a)
OneToMany
-- 35
  • 85 (a)
OneToMany
-- 35
  • 90 (a)
OneToMany
chicken
(Gallus gallus)
Aves C4H4ORF41 34
  • 79 (n)
  • 88.78 (a)
C4H4ORF41 35
  • 89 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TRAPPC11 35
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.7134 34
trappc11 34
  • 76.29 (n)
  • 85.53 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.16501 34
zebrafish
(Danio rerio)
Actinopterygii trappc11 34
  • 71 (n)
  • 78.62 (a)
wufb78g05 34
trappc11 35
  • 79 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006517 34
  • 44.55 (n)
  • 36.28 (a)
fruit fly
(Drosophila melanogaster)
Insecta gry 34
  • 47.41 (n)
  • 37.41 (a)
gry 35
  • 27 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea B0412.3 34
  • 46.2 (n)
  • 35.89 (a)
trpp-11 35
  • 26 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G65950 34
  • 42.21 (n)
  • 28.66 (a)
rice
(Oryza sativa)
Liliopsida Os02g0714500 34
  • 43.94 (n)
  • 32.31 (a)
Species where no ortholog for TRAPPC11 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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 blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TRAPPC11 Gene

ENSEMBL:
Gene Tree for TRAPPC11 (if available)
TreeFam:
Gene Tree for TRAPPC11 (if available)

Paralogs for TRAPPC11 Gene

No data available for Paralogs for TRAPPC11 Gene

Variants for TRAPPC11 Gene

Sequence variations from dbSNP and Humsavar for TRAPPC11 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs397509417 Limb-girdle muscular dystrophy 2S (LGMD2S) 183,701,783(+) CAACC(A/G)GGCAT reference, missense
rs4286581 -- 183,699,987(+) CGCCC(A/G)GCTAA intron-variant
rs4467621 -- 183,700,108(+) CGCCC(A/G)GCCAA intron-variant
rs4400034 -- 183,665,585(+) AGACA(G/T)TGGAT intron-variant
rs4401492 -- 183,690,646(+) GAACA(G/T)AGAGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TRAPPC11 Gene

Variant ID Type Subtype PubMed ID
dgv2964n106 CNV deletion 24896259
esv1002560 CNV deletion 20482838
esv1205233 CNV deletion 17803354
esv2659078 CNV deletion 23128226
esv2728876 CNV deletion 23290073
esv3063065 CNV deletion 24192839
esv3384 CNV loss 18987735
esv3397171 CNV insertion 20981092
esv3603444 CNV loss 21293372
esv3603445 CNV gain 21293372
esv3603446 CNV loss 21293372
nsv1025333 CNV gain 25217958
nsv1030766 CNV gain 25217958
nsv292013 CNV deletion 16902084
nsv508338 CNV deletion 20534489

Variation tolerance for TRAPPC11 Gene

Residual Variation Intolerance Score: 5.56% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.72; 86.56% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TRAPPC11 Gene

Human Gene Mutation Database (HGMD)
TRAPPC11
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TRAPPC11

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TRAPPC11 Gene

Disorders for TRAPPC11 Gene

MalaCards: The human disease database

(4) MalaCards diseases for TRAPPC11 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, and DISEASES

Disorder Aliases PubMed IDs
muscular dystrophy, limb-girdle, type 2e
  • muscular dystrophy, limb-girdle, type 2s
intellectual disability-hyperkinetic movement-truncal ataxia syndrome
calpainopathy
  • limb-girdle muscular dystrophy type 2a
episodic ataxia, type 2
  • episodic ataxia type 2
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

TPC11_HUMAN
  • Limb-girdle muscular dystrophy 2S (LGMD2S) [MIM:615356]: A form of limb-girdle muscular dystrophy characterized by proximal muscle weakness with childhood onset, resulting in gait abnormalities and scapular winging. Serum creatine kinase is increased. A subset of patients may show a hyperkinetic movement disorder with chorea, ataxia, or dystonia and global developmental delay. {ECO:0000269 PubMed:23830518}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TRAPPC11

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TRAPPC11
genes like me logo Genes that share disorders with TRAPPC11: view

No data available for Genatlas for TRAPPC11 Gene

Publications for TRAPPC11 Gene

  1. C4orf41 and TTC-15 are mammalian TRAPP components with a role at an early stage in ER-to-Golgi trafficking. (PMID: 21525244) Scrivens P.J. … Sacher M. (Mol. Biol. Cell 2011) 2 3 4 65
  2. Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability. (PMID: 23830518) BAPgershausen N. … Lamont R.E. (Am. J. Hum. Genet. 2013) 3 4 65
  3. A genome-wide RNA interference screen identifies two novel components of the metazoan secretory pathway. (PMID: 19942856) Wendler F. … Munro S. (EMBO J. 2010) 2 3 65
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 65
  5. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S. … Poustka A. (Genome Res. 2001) 3 4 65

Products for TRAPPC11 Gene

Sources for TRAPPC11 Gene

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