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    TRAF3IP3 TRAF3 interacting protein 3 [ Homo sapiens (human) ]

    Gene ID: 80342, updated on 3-Apr-2024

    Summary

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    Official Symbol
    TRAF3IP3provided by HGNC
    Official Full Name
    TRAF3 interacting protein 3provided by HGNC
    Primary source
    HGNC:HGNC:30766
    See related
    Ensembl:ENSG00000009790 MIM:608255; AllianceGenome:HGNC:30766
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    T3JAM
    Summary
    The gene encodes a protein that mediates cell growth by modulating the c-Jun N-terminal kinase signal transduction pathway. The encoded protein may also interact with a large multi-protein assembly containing the phosphatase 2A catalytic subunit. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
    Expression
    Biased expression in lymph node (RPKM 18.7), spleen (RPKM 13.0) and 9 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    1q32.2
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (209756053..209782310)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (209002813..209029078)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (209929398..209955655)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene HSD11B1 antisense RNA 1 Neighboring gene hydroxysteroid 11-beta dehydrogenase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2470 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2471 Neighboring gene adenosine A2b receptor pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2472 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2473 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2474 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2475 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:209944889-209945388 Neighboring gene MPRA-validated peak675 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:209957609-209958226 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:209958227-209958842 Neighboring gene chromosome 1 open reading frame 74 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:209979409-209979752 Neighboring gene interferon regulatory factor 6 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_2681 Neighboring gene VISTA enhancer hs932 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2477 Neighboring gene Sharpr-MPRA regulatory region 1786 Neighboring gene UTP25 small subunit processome component

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia. Pommert L, et al. Cancer Rep (Hoboken), 2021 Jun. PMID 33503336, Free PMC Article
    2. High TRAF3IP3 Level Predicts Poor Prognosis of Patients with Gliomas. Yang G, et al. World Neurosurg, 2021 Apr. PMID 33444836
    3. TRAF3-interacting protein 3, a new oncotarget, promotes tumor growth in melanoma. Nasarre P, et al. Melanoma Res, 2018 Jun. PMID 29553967
    4. Identification of five human novel genes associated with cell proliferation by cell-based screening from an expressed cDNA ORF library. Ma X, et al. Life Sci, 2007 Sep 15. PMID 17868742
    5. Secondary Genome-Wide Association Study Using Novel Analytical Strategies Disentangle Genetic Components of Cleft Lip and/or Cleft Palate in 1q32.2. Yang Y, et al. Genes (Basel), 2020 Oct 29. PMID 33137956, Free PMC Article

    See all (31) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The variants in PTPRB, TRAF3IP3, and DISC1 genes were associated with Graves' disease in the Chinese population.
      Title: The variants in PTPRB, TRAF3IP3, and DISC1 genes were associated with Graves' disease in the Chinese population.
    2. Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia.
      Title: Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia.
    3. High TRAF3IP3 Level Predicts Poor Prognosis of Patients with Gliomas.
      Title: High TRAF3IP3 Level Predicts Poor Prognosis of Patients with Gliomas.
    4. Secondary Genome-Wide Association Study Using Novel Analytical Strategies Disentangle Genetic Components of Cleft Lip and/or Cleft Palate in 1q32.2.
      Title: Secondary Genome-Wide Association Study Using Novel Analytical Strategies Disentangle Genetic Components of Cleft Lip and/or Cleft Palate in 1q32.2.
    5. Findings uncover TRAF3IP3 as an important regulator for RIG-I-MAVS signaling, which bridges MAVS and TRAF3 for an effective antiviral innate immune response.
      Title: TRAF3IP3 mediates the recruitment of TRAF3 to MAVS for antiviral innate immunity.
    6. Tumor microarray analysis on 23 primary melanoma and nine positive lymph nodes revealed that 70% of human primary melanoma and 66% of lymph node metastases were positive for TRAF3IP3. Immunohistochemistry analysis of the tumors revealed that TRAF3IP3-shRNA tumors had increased apoptosis and reduced microvascular density.
      Title: TRAF3-interacting protein 3, a new oncotarget, promotes tumor growth in melanoma.
    7. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    8. This paper provides an alignment of the mouse and human proteins.
      Title: T3JAM, a novel protein that specifically interacts with TRAF3 and promotes the activation of JNK(1).
    9. TRAF3IP3 stimulated cell growth by modulating the c-Jun N-terminal kinase (JNK) pathway
      Title: Identification of five human novel genes associated with cell proliferation by cell-based screening from an expressed cDNA ORF library.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Vif vif HIV-1 Vif downregulates the expression of TRAF3 interacting protein 3 (TRAF3IP3) in Vif-expression T cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ44151, MGC117354, MGC163289

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular adaptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cytoplasmic pattern recognition receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of type I interferon production IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in lysosomal membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrial outer membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    TRAF3-interacting JNK-activating modulator
    Names
    TRAF3 interacting Jun N terminal kinase (JNK) activating modulator

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_033934.1 RefSeqGene

      Range
      5022..31279
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001287754.2 → NP_001274683.1  TRAF3-interacting JNK-activating modulator isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks several exons, uses an alternate 5'-terminal exon, initiates translation at a downstream start codon, and its 3'-terminal exon extends past a splice site that is used in variant 1. The encoded isoform (2) has a shorter N-terminus and a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      BC110302, BQ277340, BX648450, CB053101
      Consensus CDS
      CCDS73023.1
      UniProtKB/TrEMBL
      B1AJU2
      Related
      ENSP00000355990.1, ENST00000367023.5
      Conserved Domains (1) summary
      COG4372
      Location:3 → 142
      COG4372; Uncharacterized conserved protein, contains DUF3084 domain [Function unknown]

    2. NM_001320143.2 → NP_001307072.1  TRAF3-interacting JNK-activating modulator isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1 and 4 both encode the same isoform (1).
      Source sequence(s)
      AK122792, AK125601, AL022398
      Consensus CDS
      CCDS1490.2
      UniProtKB/Swiss-Prot
      A1L464, A6NIU9, Q2YDB5, Q4VY06, Q7Z706, Q9Y228
      UniProtKB/TrEMBL
      B3KWQ9
      Related
      ENSP00000355991.1, ENST00000367024.5
      Conserved Domains (1) summary
      COG1196
      Location:201 → 517
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    3. NM_001320144.2 → NP_001307073.1  TRAF3-interacting JNK-activating modulator isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (4) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AL049667, AL558384
      Consensus CDS
      CCDS81422.1
      UniProtKB/TrEMBL
      B3KWQ9
      Related
      ENSP00000355993.3, ENST00000367026.7
      Conserved Domains (1) summary
      COG1196
      Location:181 → 497
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    4. NM_025228.4 → NP_079504.2  TRAF3-interacting JNK-activating modulator isoform 1

      See identical proteins and their annotated locations for NP_079504.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1). Variants 1 and 4 both encode the same isoform (1).
      Source sequence(s)
      AK312755, AL558384, BX648450
      Consensus CDS
      CCDS1490.2
      UniProtKB/Swiss-Prot
      A1L464, A6NIU9, Q2YDB5, Q4VY06, Q7Z706, Q9Y228
      UniProtKB/TrEMBL
      B3KWQ9
      Related
      ENSP00000355992.3, ENST00000367025.8
      Conserved Domains (1) summary
      COG1196
      Location:201 → 517
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    RNA

    1. NR_109871.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an internal exon and its 3'-terminal exon extends past a splice site that is used in variant 1. This variant is represented as non-coding because the use of the 5'-most [supported/expected] translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK312755, AL558384, BC110302, BX648450, CB053101
      Related
      ENST00000478359.5

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      209756053..209782310
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047430963.1 → XP_047286919.1  TRAF3-interacting JNK-activating modulator isoform X2

    2. XM_011510018.4 → XP_011508320.1  TRAF3-interacting JNK-activating modulator isoform X4

      Related
      ENSP00000383743.3, ENST00000400959.7
      Conserved Domains (1) summary
      COG1196
      Location:242 → 419
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    3. XM_047430964.1 → XP_047286920.1  TRAF3-interacting JNK-activating modulator isoform X3

    4. XM_017002400.3 → XP_016857889.1  TRAF3-interacting JNK-activating modulator isoform X1

    5. XM_011510019.3 → XP_011508321.1  TRAF3-interacting JNK-activating modulator isoform X5

      UniProtKB/TrEMBL
      B4DU99

    6. XM_047430976.1 → XP_047286932.1  TRAF3-interacting JNK-activating modulator isoform X7

    7. XM_005273279.6 → XP_005273336.1  TRAF3-interacting JNK-activating modulator isoform X6

      See identical proteins and their annotated locations for XP_005273336.1

      Conserved Domains (1) summary
      COG4372
      Location:3 → 142
      COG4372; Uncharacterized conserved protein, contains DUF3084 domain [Function unknown]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      209002813..209029078
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054338875.1 → XP_054194850.1  TRAF3-interacting JNK-activating modulator isoform X2

    2. XM_054338876.1 → XP_054194851.1  TRAF3-interacting JNK-activating modulator isoform X3

    3. XM_054338877.1 → XP_054194852.1  TRAF3-interacting JNK-activating modulator isoform X4

    4. XM_054338878.1 → XP_054194853.1  TRAF3-interacting JNK-activating modulator isoform X8

      UniProtKB/TrEMBL
      E2QRE5

    5. XM_054338874.1 → XP_054194849.1  TRAF3-interacting JNK-activating modulator isoform X1

    6. XM_054338879.1 → XP_054194854.1  TRAF3-interacting JNK-activating modulator isoform X5

    7. XM_054338881.1 → XP_054194856.1  TRAF3-interacting JNK-activating modulator isoform X7

    8. XM_054338880.1 → XP_054194855.1  TRAF3-interacting JNK-activating modulator isoform X6

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y228.2 GenPept UniProtKB/Swiss-Prot:Q9Y228

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