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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 epileps... See more...
Aliases for TRAPPC10 Gene
Aliases for TRAPPC10 Gene
- Trafficking Protein Particle Complex Subunit 10 2 3 4
- Trafficking Protein Particle Complex 10 2 3 5
- EHOC-1 2 3 4
- 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
External Ids for TRAPPC10 Gene
- HGNC: 11868
- NCBI Entrez Gene: 7109
- Ensembl: ENSG00000160218
- OMIM®: 602103
- UniProtKB/Swiss-Prot: P48553
Previous HGNC Symbols for TRAPPC10 Gene
- TMEM1
Previous GeneCards Identifiers for TRAPPC10 Gene
- GC00U913620
- GC21P044257
- GC21P045432
- GC21P030802
Summaries 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 Subunit 10) is a Protein Coding gene. Diseases associated with TRAPPC10 include Progressive Myoclonus Epilepsy and Myoclonus Epilepsy. Among its related pathways are Vesicle-mediated transport and RAB GEFs exchange GTP for GDP on RABs. Gene Ontology (GO) annotations related to this gene include sodium ion transmembrane transporter activity. An important paralog of this gene is ENSG00000280433.
UniProtKB/Swiss-Prot Summary for TRAPPC10 Gene
-
Specific subunit of the TRAPP (transport protein particle) II complex, a highly conserved vesicle tethering complex that functions in late Golgi trafficking as a membrane tether.
Additional gene information for TRAPPC10 Gene
- HGNC (11868)
- NCBI Entrez Gene (7109)
- Ensembl (ENSG00000160218)
- OMIM® (602103)
- UniProtKB/Swiss-Prot (P48553)
- Open Targets Platform(ENSG00000160218)
- Monarch Initiative
- Alliance of Genome Resources
- Search for TRAPPC10 at DataMed
- Search for TRAPPC10 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TRAPPC10 Gene
Genomics for TRAPPC10 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for TRAPPC10 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 TRAPPC10 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TRAPPC10
- Top Transcription factor binding sites by QIAGEN in the TRAPPC10 gene promoter:
-
- AhR
- ATF
- c-Ets-1
- CREB
- E47
- Hand1
- Pax-5
- TBP
- TFIID
Genomic Locations for TRAPPC10 Gene
Latest Assembly
- chr21:44,012,309-44,106,552
- (GRCh38/hg38)
- Size:
- 94,244 bases
- Orientation:
- Plus strand
Previous Assembly
- chr21:45,432,190-45,526,433
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 94,244 bases
- Orientation:
- Plus strand
Genomic View for TRAPPC10 Gene
Genes around TRAPPC10 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 21q22.3 by HGNC
- 21q22.3 by Entrez Gene
- 21q22.3 by Ensembl
TRAPPC10 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 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
- Q3MIR2
- Q86SI7
- Q9UMD4
- Q9Y4L3
Protein attributes for TRAPPC10 Gene
- Size:
- 1259 amino acids
- Molecular mass:
- 142189 Da
- Quaternary structure:
-
- Specific component of the multisubunit TRAPP II complex, which includes at least TRAPPC1, TRAPPC2, TRAPPC3, TRAPPC4, TRAPPC5, TRAPPC6A/B, TRAPPC9, TRAPPC10 and TRAPPC14. TRAPPC9, TRAPPC10 and TRAPPC14 are specific subunits of the TRAPP II complex (PubMed:31467083, PubMed:21525244, PubMed:11805826). Interacts with TRAPPC14 (PubMed:31467083).
- SequenceCaution:
-
- Sequence=AAC50134.1; Type=Frameshift; Evidence={ECO:0000305};
Protein Expression for TRAPPC10 Gene
Post-translational modifications for TRAPPC10 Gene
Other Protein References for TRAPPC10 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
-
- XP_005261225.1
- XP_011528016.1
- XP_011528017.1
- XP_011528018.1
- XP_011528019.1
- XP_011528020.1
- XP_011528021.1
- XP_011528022.1
- XP_011528023.1
- XP_011528024.1
- XP_011528025.1
- XP_011528027.1
- XP_011528028.1
- XP_011528029.1
- XP_011528030.1
- XP_011528031.1
- XP_011528032.1
- XP_016883943.1
- XP_024307896.1
- NP_001338638.1
- NP_003265.3
Antibodies for research
- Novus Biologicals Antibodies for TRAPPC10
- Invitrogen Antibodies for TRAPPC10 (AFLGC-TRAPPC10)
-
Biorbyt antibodies for TRAPPC10
-
Boster Bio Antibodies for TRAPPC10
-
Custom Antibody ServicesProSci Antibodies for TRAPPC10
-
Santa Cruz Biotechnology (SCBT) Antibodies for TRAPPC10
Protein products for research
-
OriGene Purified Proteins for TRAPPC10
- Search Origene for MassSpec and Protein Over-expression Lysates for TRAPPC10
- Origene Custom Protein Services for TRAPPC10
- antibodies-online: Show 8 available TMEM1 Proteins ranked by validation data
- Compare Top TMEM1 Proteins
-
Quality Products:
-
Abcam proteins for TRAPPC10
Assay products for research
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:
Suggested Antigen Peptide Sequences for TRAPPC10 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ54223, highly similar to Transmembrane protein 1 (B4E0X9_HUMAN)
- TMEM1 protein (Q76NH5_HUMAN)
- Transport protein particle subunit TMEM1 (TPC10_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P48553- Family:
-
- Belongs to the TRAPPC10 family.
Function for TRAPPC10 Gene
Molecular function for TRAPPC10 Gene
- UniProtKB/Swiss-Prot Function:
- Specific subunit of the TRAPP (transport protein particle) II complex, a highly conserved vesicle tethering complex that functions in late Golgi trafficking as a membrane tether.
Phenotypes From GWAS Catalog for TRAPPC10 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 21273506 |
Phenotypes for TRAPPC10 Gene
- MGI mutant phenotypes for TRAPPC10:
-
inferred from 3 alleles
- nervous system phenotype
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- cardiovascular system phenotype
- behavior/neurological phenotype
- immune system phenotype
- hematopoietic system phenotype
- digestive/alimentary phenotype
- endocrine/exocrine gland phenotype
- vision/eye phenotype
- skeleton phenotype
- craniofacial phenotype
- adipose tissue phenotype
- GenomeRNAi human phenotypes for TRAPPC10:
Animal Models for TRAPPC10 Gene
- MGI Knock Outs for TRAPPC10:
-
- Trappc10 Trappc10<tm1b(KOMP)Wtsi>
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for TRAPPC10 - Starting at $85 >
- * TRAPPC10 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for TRAPPC10
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TRAPPC10
-
Santa Cruz Biotechnology (SCBT) CRISPR for TRAPPC10
miRNA for TRAPPC10 Gene
- miRTarBase miRNAs that target TRAPPC10
-
- mmu-miR-19b-3p (MIRT012492)
- hsa-miR-186-5p (MIRT021083)
- hsa-miR-330-5p (MIRT038240)
- hsa-miR-615-3p (MIRT040102)
- hsa-miR-18a-3p (MIRT040804)
- hsa-miR-193b-3p (MIRT041335)
- hsa-miR-17-5p (MIRT254247)
- hsa-miR-20a-5p (MIRT254248)
- hsa-miR-93-5p (MIRT254250)
- hsa-miR-106b-5p (MIRT254254)
- hsa-miR-20b-5p (MIRT254255)
- hsa-miR-519d-3p (MIRT254260)
- hsa-miR-4713-5p (MIRT621718)
- hsa-miR-2116-3p (MIRT621719)
- hsa-miR-532-3p (MIRT621720)
- hsa-miR-150-5p (MIRT621721)
- hsa-miR-4762-5p (MIRT621722)
- hsa-miR-4753-3p (MIRT652238)
- hsa-miR-130b-5p (MIRT652239)
- hsa-let-7a-5p (MIRT735587)
- hsa-let-7b-5p (MIRT735612)
- hsa-let-7c-5p (MIRT735639)
- hsa-let-7d-5p (MIRT735667)
- hsa-let-7e-5p (MIRT735694)
- hsa-let-7f-5p (MIRT735725)
- hsa-let-7g-5p (MIRT735757)
- hsa-let-7i-5p (MIRT735785)
- hsa-miR-1233-5p (MIRT736273)
- hsa-miR-1249-5p (MIRT736479)
- hsa-miR-1294 (MIRT737185)
- hsa-miR-1321 (MIRT737378)
- hsa-miR-149-3p (MIRT737805)
- hsa-miR-202-3p (MIRT738799)
- hsa-miR-3921 (MIRT742972)
- hsa-miR-4278 (MIRT743694)
- hsa-miR-4316 (MIRT744009)
- hsa-miR-4419a (MIRT744219)
- hsa-miR-4458 (MIRT744773)
- hsa-miR-4468 (MIRT744941)
- hsa-miR-4500 (MIRT745493)
- hsa-miR-4510 (MIRT745659)
- hsa-miR-4653-5p (MIRT746620)
- hsa-miR-4682 (MIRT746930)
- hsa-miR-4685-5p (MIRT746981)
- hsa-miR-4716-3p (MIRT747510)
- hsa-miR-4723-5p (MIRT747679)
- hsa-miR-4728-5p (MIRT747901)
- hsa-miR-4739 (MIRT748095)
- hsa-miR-4756-5p (MIRT748467)
- hsa-miR-503-5p (MIRT749546)
- hsa-miR-5088-5p (MIRT749643)
- hsa-miR-5698 (MIRT751312)
- hsa-miR-6127 (MIRT752133)
- hsa-miR-6129 (MIRT752206)
- hsa-miR-6130 (MIRT752294)
- hsa-miR-6133 (MIRT752398)
- hsa-miR-6732-5p (MIRT754088)
- hsa-miR-6785-5p (MIRT755896)
- hsa-miR-6794-5p (MIRT756110)
- hsa-miR-6797-5p (MIRT756239)
- hsa-miR-6805-5p (MIRT756491)
- hsa-miR-6825-5p (MIRT757026)
- hsa-miR-6837-5p (MIRT757263)
- hsa-miR-6870-5p (MIRT758012)
- hsa-miR-6883-5p (MIRT758481)
- hsa-miR-7111-5p (MIRT759070)
- hsa-miR-760 (MIRT759457)
- hsa-miR-98-5p (MIRT760954)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TRAPPC10
- Browse OriGene Inhibitory RNA Products For TRAPPC10
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TRAPPC10
Clone products for research
- Applied Biological Materials (abm): Clones for TRAPPC10 - Starting at $45 >
- * TRAPPC10 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for TRAPPC10
- Addgene plasmids for TRAPPC10
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TRAPPC10
Cell Lines for research
-
Horizon Cell Lines for TRAPPC10
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.
| Compartment | Confidence |
|---|---|
| endosome | 4 |
| cytosol | 4 |
| golgi apparatus | 4 |
| nucleus | 3 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
| peroxisome | 0 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000139 | Golgi membrane | IEA | -- |
| GO:0005794 | Golgi apparatus | IEA | -- |
| GO:0005829 | cytosol | TAS | -- |
| GO:0030008 | TRAPP complex | IDA | 21525244 |
| GO:1990071 | TRAPPII protein complex | IBA | 21873635 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for TRAPPC10 Gene
Pathways & Interactions for TRAPPC10 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Transport to the Golgi and subsequent modification | ||
| 2 | Vesicle-mediated transport | ||
| 3 | Metabolism of proteins | ||
| 4 | RAB GEFs exchange GTP for GDP on RABs | ||
Pathways by source for TRAPPC10 Gene
9 Reactome pathways for TRAPPC10 Gene
Interacting Proteins for TRAPPC10 Gene
Selected Interacting proteins:
P48553-TPC10_HUMAN
ENSP00000291574
for TRAPPC10 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for TRAPPC10
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006891 | intra-Golgi vesicle-mediated transport | IBA | 21873635 |
| GO:0016192 | vesicle-mediated transport | IEA | -- |
| GO:0034498 | early endosome to Golgi transport | IBA | 21873635 |
| GO:0048208 | COPII vesicle coating | TAS | -- |
No data available for SIGNOR curated interactions for TRAPPC10 Gene
Transcripts for TRAPPC10 Gene
mRNA/cDNA for TRAPPC10 Gene
- 3 REFSEQ mRNAs :
- 18 NCBI additional mRNA sequence :
- 12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000291574 6986 nts (view in UCSC)
- ENST00000380221 1763 nts (view in UCSC)
- ENST00000422875 5267 nts (view in UCSC)
- ENST00000459741 5826 nts (view in UCSC)
- ENST00000461889 563 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for TRAPPC10 - Starting at $85 >
- * TRAPPC10 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for TRAPPC10
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TRAPPC10
-
Santa Cruz Biotechnology (SCBT) CRISPR for TRAPPC10
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TRAPPC10
- Browse OriGene Inhibitory RNA Products For TRAPPC10
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TRAPPC10
Clone products for research
- Applied Biological Materials (abm): Clones for TRAPPC10 - Starting at $45 >
- * TRAPPC10 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for TRAPPC10
- Addgene plasmids for TRAPPC10
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TRAPPC10
| 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
Expression for TRAPPC10 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Neural Tube (Nervous System)
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, MaxQB, and MOPED for TRAPPC10 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TRAPPC10
SOURCE GeneReport for Unigene cluster for TRAPPC10 Gene:
Hs.126221mRNA 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(4.6)
- Liver(4.3)
Primer products for research
-
OriGene qPCR primer pairs for TRAPPC10
-
OriGene qPCR primer pairs and template standards for TRAPPC10
Gene Expression Assays for research
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | TRAPPC10 29 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | TRAPPC10 29 30 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | TRAPPC10 29 30 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | TRAPPC10 30 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | TRAPPC10 30 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Trappc10 29 16 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Trappc10 29 |
|
||
| Chicken (Gallus gallus) |
Aves | TRAPPC10 29 30 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | TRAPPC10 30 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | trappc10 29 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | trappc10 29 |
|
||
| TRAPPC10 30 |
|
OneToOne | |||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP002242 29 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | SIDL 29 30 |
|
OneToOne | |
| Worm (Caenorhabditis elegans) |
Secernentea | trpp-10 30 |
|
OneToOne | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | TRS130 32 |
|
|
|
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 30 |
|
OneToOne |
- Species where no ortholog for TRAPPC10 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 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)
- Wheat (Triticum aestivum)
Evolution for TRAPPC10 Gene
- ENSEMBL:
- Gene Tree for TRAPPC10 (if available)
- TreeFam:
- Gene Tree for TRAPPC10 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for TRAPPC10: view image
- Alliance of Genome Resources:
- Additional Orthologs for TRAPPC10
Paralogs for TRAPPC10 Gene
Paralogs for TRAPPC10 Gene
Variants for TRAPPC10 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TRAPPC10 Gene
| SNP ID | Clinical significance and condition | Chr 21 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 993836 | Uncertain Significance: none provided | 44,103,421(+) |
C/T NM_003274.5(TRAPPC10):c.3670C>T (p.Pro1224Ser) |
MISSENSE | |
| 996582 | Likely Pathogenic: Intellectual disability | 44,089,849(+) |
C/T NM_003274.5(TRAPPC10):c.2786C>T (p.Pro929Leu) |
MISSENSE | |
| rs148086257 | Benign: not provided | 44,079,633(+) |
C/T NM_003274.5(TRAPPC10):c.1539C>T (p.Gly513=) |
SYNONYMOUS | |
| rs386352376 | Uncertain Significance: not provided | 44,091,981(+) |
A/G NM_003274.5(TRAPPC10):c.2929A>G (p.Ser977Gly) |
MISSENSE | |
| rs60541190 | Benign: not provided | 44,087,937(+) |
G/T NM_003274.5(TRAPPC10):c.2769+9G>T |
INTRON |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| 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 |
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)
Additional Variant Information for TRAPPC10 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TRAPPC10 Gene
Disorders for TRAPPC10 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| progressive myoclonus epilepsy |
|
|
| myoclonus epilepsy |
|
|
| holoprosencephaly |
|
|
| osteopetrosis, autosomal recessive 5 |
|
|
| myoclonus |
|
|
Search TRAPPC10 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
TPC10_HUMAN- Note=Defects in this gene may cause an autosomal recessive disorder characterized by severe intellectual disability, poor speech and aggressive behavior. {ECO:0000269 PubMed:30167849}.
Additional Disease Information for TRAPPC10
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for TRAPPC10 Gene
Publications for TRAPPC10 Gene
- 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
- 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
- Genomic structure of the human GT334 (EHOC-1) gene mapping to 21q22.3. (PMID: 9370297) Lafrenière RG … Rouleau GA (Gene 1997) 3 4 22
- The C7orf43/TRAPPC14 component links the TRAPPII complex to Rabin8 for preciliary vesicle tethering at the mother centriole during ciliogenesis. (PMID: 31467083) Cuenca A … Westlake CJ (The Journal of biological chemistry 2019) 3 4
- Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability. (PMID: 30167849) Santos-Cortez RLP … Leal SM (Human genetics 2018) 4 72
ExternalLinks
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Sources for TRAPPC10 Gene
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