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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] See more...
Aliases for TRAPPC11 Gene
Aliases for TRAPPC11 Gene
External Ids for TRAPPC11 Gene
- HGNC: 25751
- Entrez Gene: 60684
- Ensembl: ENSG00000168538
- OMIM: 614138
- UniProtKB: Q7Z392
Previous HGNC Symbols for TRAPPC11 Gene
- C4orf41
Previous GeneCards Identifiers for TRAPPC11 Gene
- GC04P184581
Summaries 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, Autosomal Recessive 18 and Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1. Among its related pathways are RAB GEFs exchange GTP for GDP on RABs and Vesicle-mediated transport.
UniProtKB/Swiss-Prot Summary for TRAPPC11 Gene
-
Involved in endoplasmic reticulum to Golgi apparatus trafficking at a very early stage.
Additional gene information for TRAPPC11 Gene
- HGNC(25751)
- Entrez Gene(60684)
- Ensembl(ENSG00000168538)
- OMIM(614138)
- UniProtKB(Q7Z392)
- Open Targets Platform(ENSG00000168538)
- Monarch Initiative
- Search for TRAPPC11 at DataMed
- Search for TRAPPC11 at HumanCyc
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TRAPPC11 Gene
Genomics for TRAPPC11 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for TRAPPC11 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 TRAPPC11 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TRAPPC11
Genomic Locations for TRAPPC11 Gene
Genomic Locations for TRAPPC11 Gene
- chr4:183,659,267-183,713,594
- (GRCh38/hg38)
- Size:
- 54,328 bases
- Orientation:
- Plus strand
- chr4:184,580,420-184,634,745
- (GRCh37/hg19)
- Size:
- 54,326 bases
- Orientation:
- Plus strand
Genomic View for TRAPPC11 Gene
Genes around TRAPPC11 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 4q35.1 by HGNC
- 4q35.1 by Entrez Gene
- 4q35.1 by Ensembl
TRAPPC11 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB14556.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB15617.1; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence={ECO:0000305}; Sequence=BAG37533.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=CAB66686.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=CAD91169.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=CAD97983.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
Protein Expression for TRAPPC11 Gene
Post-translational modifications for TRAPPC11 Gene
Other Protein References for TRAPPC11 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Creative Diagnostics Anti-TRAPPC11 monoclonal antibody
- Invitrogen Antibodies for TRAPPC11 (AFLGC-TRAPPC11)
- antibodies-online: Show 5 available TRAPPC11 Antibodies ranked by validation data
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Biorbyt antibodies for TRAPPC11
Protein Products
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OriGene Purified Proteins for TRAPPC11
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- Novus Biologicals proteins for TRAPPC11
- antibodies-online: Show 3 available TRAPPC11 Proteins ranked by validation data
- Compare Top TRAPPC11 Proteins
-
Quality Products:
No data available for DME Specific Peptides for TRAPPC11 Gene
Domains & Families for TRAPPC11 Gene
Gene Families for TRAPPC11 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
Protein Domains for TRAPPC11 Gene
- InterPro:
- Blocks:
-
- Protein of unknown function DUF1683, C-terminal
- ProtoNet:
Suggested Antigen Peptide Sequences for TRAPPC11 Gene
- GenScript: Design optimal peptide antigens:
-
- UPF0636 protein C4orf41 (CD041_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q7Z392- Family:
-
- Belongs to the TRAPPC11 family.
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 From GWAS Catalog for TRAPPC11 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 21525244 |
Phenotypes for TRAPPC11 Gene
- GenomeRNAi human phenotypes for TRAPPC11:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for TRAPPC11 - Select products 50% OFF >
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-
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-
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miRNA for TRAPPC11 Gene
- miRTarBase miRNAs that target TRAPPC11
miRNA Products
Inhibitory RNA Products
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Clone Products
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- Sino Biological Human cDNA Clone for TRAPPC11
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No data available for Enzyme Numbers (IUBMB) , 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. Golgi apparatus, cis-Golgi network.
| Compartment | Confidence |
|---|---|
| golgi apparatus | 5 |
| cytosol | 4 |
| nucleus | 2 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
| peroxisome | 0 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005794 | Golgi apparatus | IEA,IDA | 27862579 |
| GO:0005829 | cytosol | TAS | -- |
| GO:0030008 | TRAPP complex | IMP | 21525244 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for TRAPPC11 Gene
Pathways & Interactions for TRAPPC11 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Vesicle-mediated transport | ||
| 2 | RAB GEFs exchange GTP for GDP on RABs | ||
Pathways by source for TRAPPC11 Gene
3 Reactome pathways for TRAPPC11 Gene
Interacting Proteins for TRAPPC11 Gene
GPS-Prot Interaction Network for TRAPPC11
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006888 | ER to Golgi vesicle-mediated transport | IMP | 21525244 |
| GO:0007030 | Golgi organization | IMP | 21525244 |
| GO:0016192 | vesicle-mediated transport | IEA | -- |
| GO:0045054 | constitutive secretory pathway | IMP | 19942856 |
| GO:0061635 | regulation of protein complex stability | IMP | 21525244 |
No data available for SIGNOR curated interactions for TRAPPC11 Gene
Transcripts for TRAPPC11 Gene
mRNA/cDNA for TRAPPC11 Gene
- 2 REFSEQ mRNAs :
- 21 NCBI additional mRNA sequence :
- 10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000334690 4523 nts (view in UCSC)
- ENST00000357207 4435 nts (view in UCSC)
- ENST00000504526 503 nts (view in UCSC)
- ENST00000505676 2244 nts (view in UCSC)
- ENST00000506426 395 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for TRAPPC11 - Select products 50% OFF >
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-
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-
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miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TRAPPC11
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Clone Products
- Applied Biological Materials (abm): Clones for TRAPPC11 - Select products 50% OFF >
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- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for TRAPPC11
- Addgene plasmids for TRAPPC11
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TRAPPC11
| 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
Expression 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, MaxQB, and MOPED for TRAPPC11 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TRAPPC11
SOURCE GeneReport for Unigene cluster for TRAPPC11 Gene:
Hs.443240Evidence on tissue expression from TISSUES for TRAPPC11 Gene
- Intestine(4.2)
- Nervous system(3.8)
Phenotype-based relationships between genes and organs from Gene ORGANizer for TRAPPC11 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- nervous
- respiratory
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- cranial nerve
- eye
- head
- mouth
- skull
- tongue
Thorax:
- lung
- rib
- rib cage
Pelvis:
- pelvis
Limb:
- arm
- digit
- femur
- finger
- foot
- hand
- hip
- lower limb
- thigh
- toe
- upper limb
General:
- peripheral nervous system
- spinal column
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for TRAPPC11
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | TRAPPC11 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | TRAPPC11 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| -- 31 |
|
OneToMany | |||
| Cow (Bos Taurus) |
Mammalia | TRAPPC11 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | TRAPPC11 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Trappc11 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Trappc11 30 17 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | C4H4ORF41 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | TRAPPC11 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | trappc11 30 |
|
||
| Str.7134 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.16501 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | trappc11 30 31 |
|
OneToOne | |
| wufb78g05 30 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | gry 30 31 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP006517 30 |
|
||
| Worm (Caenorhabditis elegans) |
Secernentea | B0412.3 30 |
|
||
| trpp-11 31 |
|
OneToOne | |||
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT5G65950 30 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os02g0714500 30 |
|
- Species where no ortholog for TRAPPC11 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (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)
- Aminode:
- Evolutionary constrained regions (ECRs) for TRAPPC11: view image
Paralogs for TRAPPC11 Gene
No data available for Paralogs for TRAPPC11 Gene
Variants for TRAPPC11 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TRAPPC11 Gene
| SNP ID | Clinical significance and condition | Chr 04 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 640745 | Uncertain Significance: Limb-girdle muscular dystrophy, type 2S | 183,694,626(+) | G/A | MISSENSE_VARIANT | |
| 641381 | Uncertain Significance: Limb-girdle muscular dystrophy, type 2S | 183,697,752(+) | G/C | MISSENSE_VARIANT | |
| 642886 | Uncertain Significance: Limb-girdle muscular dystrophy, type 2S | 183,685,344(+) | G/A | MISSENSE_VARIANT | |
| 644133 | Uncertain Significance: Limb-girdle muscular dystrophy, type 2S | 183,685,295(+) | G/A | MISSENSE_VARIANT | |
| 647690 | Uncertain Significance: Limb-girdle muscular dystrophy, type 2S | 183,694,635(+) | C/T | MISSENSE_VARIANT |
| 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 |
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)
Additional Variant Information for TRAPPC11 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TRAPPC11 Gene
Disorders for TRAPPC11 Gene
(25) MalaCards diseases for TRAPPC11 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
Search TRAPPC11 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
TPC11_HUMAN- Muscular dystrophy, limb-girdle, autosomal recessive 18 (LGMDR18) [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.
Additional Disease Information for TRAPPC11
No data available for Genatlas for TRAPPC11 Gene
Publications for TRAPPC11 Gene
- 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) 2 3 4
- Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation. (PMID: 27862579) Matalonga L … Girós M (Human mutation 2017) 3 4
- Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability. (PMID: 23830518) Bögershausen N … Lamont RE (American journal of human genetics 2013) 3 4
- A genome-wide RNA interference screen identifies two novel components of the metazoan secretory pathway. (PMID: 19942856) Wendler F … Munro S (The EMBO journal 2010) 2 3
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
ExternalLinks
Products for TRAPPC11 Gene
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- Biorbyt antibodies for TRAPPC11
Sources for TRAPPC11 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
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