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Aliases for TRIM50 Gene

Aliases for TRIM50 Gene

  • Tripartite Motif Containing 50 2 3 5
  • RING-Type E3 Ubiquitin Transferase TRIM50 3 4
  • Tripartite Motif-Containing Protein 50 3 4
  • Tripartite Motif-Containing 50A 2 3
  • TRIM50A 3 4
  • E3 Ubiquitin-Protein Ligase TRIM50 3
  • Tripartite Motif-Containing 50 2
  • EC 2.3.2.27 4
  • EC 6.3.2 58

External Ids for TRIM50 Gene

Previous HGNC Symbols for TRIM50 Gene

  • TRIM50A

Previous GeneCards Identifiers for TRIM50 Gene

  • GC07M072124
  • GC07M072364
  • GC07M072726
  • GC07M068608

Summaries for TRIM50 Gene

GeneCards Summary for TRIM50 Gene

TRIM50 (Tripartite Motif Containing 50) is a Protein Coding gene. Diseases associated with TRIM50 include Williams-Beuren Syndrome. Among its related pathways are Class I MHC mediated antigen processing and presentation and Innate Immune System. GO annotations related to this gene include ligase activity. An important paralog of this gene is TRIM73.

UniProtKB/Swiss-Prot for TRIM50 Gene

  • E3 ubiquitin-protein ligase.

Additional gene information for TRIM50 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TRIM50 Gene

Genomics for TRIM50 Gene

Regulatory Elements for TRIM50 Gene

Enhancers for TRIM50 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
GH07H074278 1.9 FANTOM5 Ensembl ENCODE dbSUPER 4.3 -951.8 -951784 3 HDGF PKNOX1 ATF1 ARID4B SIN3A BRCA1 ZNF121 ZNF548 ATF7 FOS MIR590 POM121B RFC2 GTF2IRD2B BAZ1B GTF2IRD2P1 GTF2IRD2 LAT2 DNAJC30 TRIM50
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TRIM50 on UCSC Golden Path with GeneCards custom track

Genomic Location for TRIM50 Gene

Chromosome:
7
Start:
73,312,472 bp from pter
End:
73,328,279 bp from pter
Size:
15,808 bases
Orientation:
Minus strand

Genomic View for TRIM50 Gene

Genes around TRIM50 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TRIM50 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TRIM50 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TRIM50 Gene

Proteins for TRIM50 Gene

  • Protein details for TRIM50 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86XT4-TRI50_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase TRIM50
    Protein Accession:
    Q86XT4
    Secondary Accessions:
    • Q86XT3

    Protein attributes for TRIM50 Gene

    Size:
    487 amino acids
    Molecular mass:
    54774 Da
    Quaternary structure:
    • Can form dimers and trimers. Interacts with several E2 ubiquitin-conjugating enzymes, including UBE2L6, UBE2E1, UBE2E3. No interaction with UBE2H.

    Alternative splice isoforms for TRIM50 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TRIM50 Gene

Selected DME Specific Peptides for TRIM50 Gene

Q86XT4:
  • YLHYEQGELTFFDADRPDDLR
  • LYTFQADFQGKLYPILDTCWHERGSNSLPMVLP

Post-translational modifications for TRIM50 Gene

Other Protein References for TRIM50 Gene

Domains & Families for TRIM50 Gene

Gene Families for TRIM50 Gene

Graphical View of Domain Structure for InterPro Entry

Q86XT4

UniProtKB/Swiss-Prot:

TRI50_HUMAN :
  • Belongs to the TRIM/RBCC family.
Family:
  • Belongs to the TRIM/RBCC family.
genes like me logo Genes that share domains with TRIM50: view

Function for TRIM50 Gene

Molecular function for TRIM50 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.
UniProtKB/Swiss-Prot Function:
E3 ubiquitin-protein ligase.

Enzyme Numbers (IUBMB) for TRIM50 Gene

Gene Ontology (GO) - Molecular Function for TRIM50 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008270 zinc ion binding IEA --
GO:0016740 transferase activity IEA --
GO:0042802 identical protein binding IPI 22829933
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with TRIM50: view
genes like me logo Genes that share phenotypes with TRIM50: view

Animal Models for TRIM50 Gene

MGI Knock Outs for TRIM50:

Animal Model Products

CRISPR Products

miRNA for TRIM50 Gene

miRTarBase miRNAs that target TRIM50

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TRIM50
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TRIM50 Gene

Localization for TRIM50 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TRIM50 Gene

Cytoplasm.

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 TRIM50 gene
Compartment Confidence
cytosol 5
nucleus 3

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TRIM50 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA --
GO:0016235 aggresome IEA --
genes like me logo Genes that share ontologies with TRIM50: view

Drugs & Compounds for TRIM50 Gene

No Compound Related Data Available

Transcripts for TRIM50 Gene

Unigene Clusters for TRIM50 Gene

Tripartite motif containing 50:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TRIM50
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for TRIM50 Gene

No ASD Table

Relevant External Links for TRIM50 Gene

GeneLoc Exon Structure for
TRIM50
ECgene alternative splicing isoforms for
TRIM50

Expression for TRIM50 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TRIM50 Gene

mRNA differential expression in normal tissues according to GTEx for TRIM50 Gene

This gene is overexpressed in Stomach (x23.3), Pancreas (x16.6), and Testis (x5.6).

NURSA nuclear receptor signaling pathways regulating expression of TRIM50 Gene:

TRIM50

SOURCE GeneReport for Unigene cluster for TRIM50 Gene:

Hs.647053
genes like me logo Genes that share expression patterns with TRIM50: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for TRIM50 Gene

Orthologs for TRIM50 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TRIM50 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TRIM50 33 34
  • 99.04 (n)
cow
(Bos Taurus)
Mammalia TRIM50 33 34
  • 89.51 (n)
dog
(Canis familiaris)
Mammalia -- 34
  • 89 (a)
OneToMany
TRIM50 33
  • 88.48 (n)
rat
(Rattus norvegicus)
Mammalia Trim50 33
  • 84.76 (n)
mouse
(Mus musculus)
Mammalia Trim50 33 16 34
  • 84.4 (n)
chicken
(Gallus gallus)
Aves TRIM50 33
  • 66.47 (n)
-- 34
  • 60 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 27 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia trim50 33
  • 59.48 (n)
Species where no ortholog for TRIM50 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for TRIM50 Gene

ENSEMBL:
Gene Tree for TRIM50 (if available)
TreeFam:
Gene Tree for TRIM50 (if available)

Paralogs for TRIM50 Gene

(11) SIMAP similar genes for TRIM50 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with TRIM50: view

Variants for TRIM50 Gene

Sequence variations from dbSNP and Humsavar for TRIM50 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs111279110 -- 73,313,160(+) GTGGC(C/T)GGCCA downstream-variant-500B, reference, missense
rs111398281 -- 73,324,262(+) GAATG(A/C)GCCAG intron-variant
rs111399096 -- 73,328,368(+) ACAGC(C/T)AGGGA intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs111638818 -- 73,324,531(+) CCTTG(A/G/T)GCTCC intron-variant, reference, missense
rs111773860 -- 73,319,312(+) TTTAA(C/G)AGACA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TRIM50 Gene

Variant ID Type Subtype PubMed ID
dgv6466n100 CNV gain 25217958
esv2759537 CNV gain+loss 17122850
esv34349 CNV gain 17911159
esv3613682 CNV gain 21293372
esv3891145 CNV gain 25118596
nsv520573 CNV gain+loss 19592680
nsv831027 CNV loss 17160897
nsv970531 CNV duplication 23825009

Variation tolerance for TRIM50 Gene

Residual Variation Intolerance Score: 86.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.00; 36.96% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TRIM50 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TRIM50

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TRIM50 Gene

Disorders for TRIM50 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TRIM50 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
williams-beuren syndrome
  • fanconi schlesinger syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for TRIM50

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TRIM50
genes like me logo Genes that share disorders with TRIM50: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TRIM50 Gene

Publications for TRIM50 Gene

  1. Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase. (PMID: 18398435) Micale L … Reymond A (European journal of human genetics : EJHG 2008) 3 4 60
  2. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier LW … Wilson RK (Nature 2003) 3 4 60
  3. HDAC6 mediates the acetylation of TRIM50. (PMID: 24308962) Fusco C … Merla G (Cellular signalling 2014) 3 60
  4. TRIM27 negatively regulates NOD2 by ubiquitination and proteasomal degradation. (PMID: 22829933) Zurek B … Kufer TA (PloS one 2012) 3 60
  5. Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. (PMID: 22610502) Kennedy RB … Poland GA (Human genetics 2012) 3 60

Products for TRIM50 Gene

Sources for TRIM50 Gene

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