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Aliases for TRAPPC9 Gene

Aliases for TRAPPC9 Gene

  • Trafficking Protein Particle Complex 9 2 3 5
  • NIK- And IKBKB-Binding Protein 3 4
  • Tularik Gene 1 Protein 3 4
  • TRAPP 120 KDa Subunit 2 3
  • NIBP 3 4
  • NIK And IKK-Beta Binding Protein 3
  • IKK2 Binding Protein 3
  • Tularik Gene 1 2
  • KIAA1882 4
  • IKBKBBP 3
  • TRS120 3
  • MRT13 3
  • IBP 3
  • T1 3

External Ids for TRAPPC9 Gene

Previous GeneCards Identifiers for TRAPPC9 Gene

  • GC00U913619
  • GC08M140813
  • GC08M136053
  • GC08M140742

Summaries for TRAPPC9 Gene

Entrez Gene Summary for TRAPPC9 Gene

  • This gene encodes a protein that likely plays a role in NF-kappa-B signaling. Mutations in this gene have been associated with autosomal-recessive mental retardation. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010]

GeneCards Summary for TRAPPC9 Gene

TRAPPC9 (Trafficking Protein Particle Complex 9) is a Protein Coding gene. Diseases associated with TRAPPC9 include pulmonary hypertension, primary, 3 and intellectual disability-obesity-brain malformations-facial dysmorphism syndrome. Among its related pathways are Transport to the Golgi and subsequent modification and Vesicle-mediated transport.

UniProtKB/Swiss-Prot for TRAPPC9 Gene

  • Functions as an activator of NF-kappa-B through increased phosphorylation of the IKK complex. May function in neuronal cells differentiation. May play a role in vesicular transport from endoplasmic reticulum to Golgi.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TRAPPC9 Gene

Genomics for TRAPPC9 Gene

Regulatory Elements for TRAPPC9 Gene

Promoters for TRAPPC9 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TRAPPC9 on UCSC Golden Path with GeneCards custom track

Genomic Location for TRAPPC9 Gene

Chromosome:
8
Start:
139,728,081 bp from pter
End:
140,458,579 bp from pter
Size:
730,499 bases
Orientation:
Minus strand

Genomic View for TRAPPC9 Gene

Genes around TRAPPC9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TRAPPC9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TRAPPC9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TRAPPC9 Gene

Proteins for TRAPPC9 Gene

  • Protein details for TRAPPC9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96Q05-TPPC9_HUMAN
    Recommended name:
    Trafficking protein particle complex subunit 9
    Protein Accession:
    Q96Q05
    Secondary Accessions:
    • Q4VTT3
    • Q658K7
    • Q6P149
    • Q6ZQT3
    • Q7L5C4
    • Q86Y21
    • Q96SL2
    • Q9BQA2

    Protein attributes for TRAPPC9 Gene

    Size:
    1148 amino acids
    Molecular mass:
    128530 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. Directly interacts with IKBKB and MAP3K14.
    SequenceCaution:
    • Sequence=AAH06206.3; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB55299.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB67775.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for TRAPPC9 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TRAPPC9 Gene

Proteomics data for TRAPPC9 Gene at MOPED

Post-translational modifications for TRAPPC9 Gene

  • Ubiquitination at Lys 568, Lys 754, and Lys 944
  • Modification sites at PhosphoSitePlus

Other Protein References for TRAPPC9 Gene

Antibody Products

No data available for DME Specific Peptides for TRAPPC9 Gene

Domains & Families for TRAPPC9 Gene

Gene Families for TRAPPC9 Gene

Protein Domains for TRAPPC9 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TRAPPC9 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96Q05

UniProtKB/Swiss-Prot:

TPPC9_HUMAN :
  • Belongs to the NIBP family.
Family:
  • Belongs to the NIBP family.
genes like me logo Genes that share domains with TRAPPC9: view

Function for TRAPPC9 Gene

Molecular function for TRAPPC9 Gene

UniProtKB/Swiss-Prot Function:
Functions as an activator of NF-kappa-B through increased phosphorylation of the IKK complex. May function in neuronal cells differentiation. May play a role in vesicular transport from endoplasmic reticulum to Golgi.

Human Phenotype Ontology for TRAPPC9 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Animal Models , Transcription Factor Targets and HOMER Transcription for TRAPPC9 Gene

Localization for TRAPPC9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TRAPPC9 Gene

Golgi apparatus, cis-Golgi network. Endoplasmic reticulum. Cytoplasm. Note=Processes and cell bodies of neurons. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TRAPPC9 Gene COMPARTMENTS Subcellular localization image for TRAPPC9 gene
Compartment Confidence
cytosol 5
golgi apparatus 5
endoplasmic reticulum 4
nucleus 3

No data available for Gene Ontology (GO) - Cellular Components for TRAPPC9 Gene

Pathways & Interactions for TRAPPC9 Gene

genes like me logo Genes that share pathways with TRAPPC9: view

Gene Ontology (GO) - Biological Process for TRAPPC9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0021987 cerebral cortex development IMP 20004763
GO:0030182 neuron differentiation IEA --
GO:0043687 post-translational protein modification TAS --
GO:0051092 positive regulation of NF-kappaB transcription factor activity IEA --
genes like me logo Genes that share ontologies with TRAPPC9: view

No data available for SIGNOR curated interactions for TRAPPC9 Gene

Drugs & Compounds for TRAPPC9 Gene

No Compound Related Data Available

Transcripts for TRAPPC9 Gene

Unigene Clusters for TRAPPC9 Gene

Trafficking protein particle complex 9:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TRAPPC9 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22 ^ 23 ^ 24 ^
SP1: - - - -
SP2: - - -
SP3: - - - -
SP4:
SP5:

ExUns: 25 ^ 26 ^ 27
SP1:
SP2:
SP3:
SP4:
SP5:

Relevant External Links for TRAPPC9 Gene

GeneLoc Exon Structure for
TRAPPC9
ECgene alternative splicing isoforms for
TRAPPC9

Expression for TRAPPC9 Gene

mRNA expression in normal human tissues for TRAPPC9 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TRAPPC9 Gene

This gene is overexpressed in Brain (13.2), Peripheral blood mononuclear cells (11.5), Lymph node (8.4), and CD8 Tcells (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for TRAPPC9 Gene



SOURCE GeneReport for Unigene cluster for TRAPPC9 Gene Hs.654911

mRNA Expression by UniProt/SwissProt for TRAPPC9 Gene

Q96Q05-TPPC9_HUMAN
Tissue specificity: Expressed at high levels in muscle and kidney and to a lower extent in brain, heart and placenta.
genes like me logo Genes that share expression patterns with TRAPPC9: view

Protein tissue co-expression partners for TRAPPC9 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for TRAPPC9 Gene

Orthologs for TRAPPC9 Gene

This gene was present in the common ancestor of animals.

Orthologs for TRAPPC9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TRAPPC9 36
  • 99 (a)
OneToOne
TRAPPC9 35
  • 99.04 (n)
  • 99.44 (a)
cow
(Bos Taurus)
Mammalia TRAPPC9 35
  • 86.53 (n)
  • 92.44 (a)
TRAPPC9 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TRAPPC9 36
  • 95 (a)
OneToOne
TRAPPC9 35
  • 89.33 (n)
  • 95.2 (a)
mouse
(Mus musculus)
Mammalia Trappc9 36
  • 92 (a)
OneToOne
Trappc9 16
Trappc9 35
  • 84.4 (n)
  • 92.63 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 62 (a)
OneToMany
-- 36
  • 87 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia TRAPPC9 36
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Trappc9 35
  • 84.72 (n)
  • 92.71 (a)
chicken
(Gallus gallus)
Aves TRAPPC9 35
  • 77.64 (n)
  • 87.46 (a)
TRAPPC9 36
  • 89 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TRAPPC9 36
  • 89 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC68567 35
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.7342 35
trappc9 35
  • 74.12 (n)
  • 79.65 (a)
zebrafish
(Danio rerio)
Actinopterygii trappc9 36
  • 68 (a)
OneToMany
TRAPPC9 (2 of 2) 36
  • 80 (a)
OneToMany
LOC100002630 35
  • 72.82 (n)
  • 77.68 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009487 35
  • 48.6 (n)
  • 37.87 (a)
fruit fly
(Drosophila melanogaster)
Insecta bru 36
  • 29 (a)
OneToOne
bru 35
  • 47.61 (n)
  • 36.4 (a)
worm
(Caenorhabditis elegans)
Secernentea C35C5.6 35
  • 39.92 (n)
  • 27.26 (a)
trpp-9 36
  • 21 (a)
OneToOne
Species with no ortholog for TRAPPC9:
  • 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 (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TRAPPC9 Gene

ENSEMBL:
Gene Tree for TRAPPC9 (if available)
TreeFam:
Gene Tree for TRAPPC9 (if available)

Paralogs for TRAPPC9 Gene

No data available for Paralogs for TRAPPC9 Gene

Variants for TRAPPC9 Gene

Sequence variations from dbSNP and Humsavar for TRAPPC9 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs728369 -- 139,812,974(-) AGGCG(A/T)GGAGC intron-variant
rs729854 -- 139,862,759(+) GGGAG(A/G)GGAAG intron-variant
rs199231 -- 139,729,611(-) CTCCT(A/G)TTGTC utr-variant-3-prime
rs876744 -- 139,835,776(-) TTTTT(G/T)TTTGT intron-variant
rs877839 -- 139,836,014(+) tattt(A/T)ttttt intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TRAPPC9 Gene

Variant ID Type Subtype PubMed ID
nsv824745 CNV Gain 20364138
nsv891518 CNV Loss 21882294
dgv7886n71 CNV Loss 21882294
nsv521446 CNV Loss 19592680
dgv900n27 CNV Loss 19166990
esv24098 CNV Gain+Loss 19812545
esv2522775 CNV Deletion 19546169
esv2737720 CNV Deletion 23290073
esv2666401 CNV Deletion 23128226
dgv1276e201 CNV Deletion 23290073
dgv1277e201 CNV Deletion 23290073
esv1397058 CNV Deletion 17803354
esv2737725 CNV Deletion 23290073
esv2737726 CNV Deletion 23290073
esv1555138 CNV Deletion 17803354
esv2737727 CNV Deletion 23290073
dgv901n27 CNV Loss 19166990
nsv831480 CNV Loss 17160897
nsv891521 CNV Loss 21882294
nsv891522 CNV Loss 21882294
esv2489107 CNV Deletion 19546169
esv2020062 CNV Deletion 18987734
esv2737728 CNV Deletion 23290073
esv2659721 CNV Deletion 23128226
esv2662748 CNV Deletion 23128226
esv2737730 CNV Deletion 23290073
esv2737731 CNV Deletion 23290073
nsv518058 CNV Loss 19592680
esv2737732 CNV Deletion 23290073
esv2737733 CNV Deletion 23290073
nsv891523 CNV Loss 21882294
nsv396941 CNV Insertion 16902084
nsv397143 CNV Insertion 16902084
esv2737734 CNV Deletion 23290073
dgv2261e1 CNV Complex 17122850
esv2737735 CNV Deletion 23290073
esv2737736 CNV Deletion 23290073
nsv396630 CNV Loss 16902084
esv994027 CNV Insertion 20482838
nsv509282 CNV Insertion 20534489
esv2737737 CNV Deletion 23290073
esv2737738 CNV Deletion 23290073
esv2323808 CNV Deletion 18987734
esv3795 CNV Deletion 18987735
esv2737739 CNV Deletion 23290073
esv1007558 CNV Deletion 20482838
esv1029437 CNV Deletion 17803354
nsv891524 CNV Loss 21882294
nsv891525 CNV Loss 21882294
nsv891526 CNV Loss 21882294
dgv7887n71 CNV Loss 21882294
esv7404 CNV Loss 19470904
esv2672834 CNV Deletion 23128226
nsv524624 CNV Loss 19592680
nsv522837 CNV Loss 19592680
esv269787 CNV Insertion 20981092
nsv6426 CNV Loss 18451855
esv2737741 CNV Deletion 23290073
esv2630135 CNV Deletion 19546169
esv2737742 CNV Deletion 23290073
esv1759028 CNV Deletion 17803354
esv2737743 CNV Deletion 23290073
nsv507500 CNV Insertion 20534489
esv2737744 CNV Deletion 23290073
esv25086 CNV Loss 19812545
esv2737745 CNV Deletion 23290073
esv2737746 CNV Deletion 23290073
esv2737747 CNV Deletion 23290073
esv2737748 CNV Deletion 23290073
esv24765 CNV Loss 19812545
esv2737749 CNV Deletion 23290073
esv2737750 CNV Deletion 23290073
esv2678434 CNV Deletion 23128226
esv2737752 CNV Deletion 23290073
esv2737753 CNV Deletion 23290073
esv2741441 CNV Deletion 23290073
esv2737754 CNV Deletion 23290073
esv2002052 CNV Deletion 18987734
esv2737755 CNV Deletion 23290073
nsv891529 CNV Loss 21882294
nsv521508 CNV Loss 19592680
esv2658801 CNV Deletion 23128226
esv2666290 CNV Deletion 23128226
nsv891530 CNV Gain 21882294
esv268825 CNV Insertion 20981092
esv2737756 CNV Deletion 23290073
nsv509283 CNV Insertion 20534489
nsv524887 CNV Loss 19592680
nsv465951 CNV Loss 19166990
esv2064769 CNV Deletion 18987734
esv2678498 CNV Deletion 23128226

Variation tolerance for TRAPPC9 Gene

Residual Variation Intolerance Score: 29.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.60; 65.33% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TRAPPC9 Gene

HapMap Linkage Disequilibrium report
TRAPPC9
Human Gene Mutation Database (HGMD)
TRAPPC9

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TRAPPC9 Gene

Disorders for TRAPPC9 Gene

MalaCards: The human disease database

(9) MalaCards diseases for TRAPPC9 Gene - From: GeneTests, Orphanet, and DISEASES

Disorder Aliases PubMed IDs
pulmonary hypertension, primary, 3
  • primary pulmonary hypertension 3
intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
  • autosomal recessive intellectual disability due to trappc9 deficiency
microcephaly, short stature, and impaired glucose metabolism
  • microcephaly, short stature, and impaired glucose metabolism 1
mental retardation, autosomal recessive 48
  • mrt48
birk-barel mental retardation dysmorphism syndrome
  • birk-barel syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

TPPC9_HUMAN
  • Mental retardation, autosomal recessive 13 (MRT13) [MIM:613192]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Brain magnetic resonance imaging of MRT13 patients indicates the presence of mild cerebral white matter hypoplasia. Microcephaly is present in some but not all affected individuals. {ECO:0000269 PubMed:20004763, ECO:0000269 PubMed:20004765}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TRAPPC9

Genetic Association Database (GAD)
TRAPPC9
Human Genome Epidemiology (HuGE) Navigator
TRAPPC9
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TRAPPC9
genes like me logo Genes that share disorders with TRAPPC9: view

No data available for Genatlas for TRAPPC9 Gene

Publications for TRAPPC9 Gene

  1. Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins. (PMID: 11572484) Nagase T. … Ohara O. (DNA Res. 2001) 2 3 4 67
  2. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Gene-smoking interactions identify several novel blood pressure loci in the Framingham Heart Study. (PMID: 25189868) Sung Y.J. … Rao D.C. (Am. J. Hypertens. 2015) 3
  5. Screening individuals with intellectual disability, autism and Tourette's syndrome for KCNK9 mutations and aberrant DNA methylation within the 8q24 imprinted cluster. (PMID: 24980697) SA!nchez Delgado M. … Monk D. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2014) 3

Products for TRAPPC9 Gene

Sources for TRAPPC9 Gene

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