The protein encoded by this gene interacts with TNF receptor-associated factor 3, tethering it to cytoskeletal microtubules. The encoded protein is also an inhibitor of the innate type I IFN response. Defects in this gene are a cause of Senior-Loken syndrome 9. [provided by RefSeq, Mar 2017] See more...

Aliases for TRAF3IP1 Gene

Aliases for TRAF3IP1 Gene

  • TRAF3 Interacting Protein 1 2 3 5
  • Microtubule Interacting Protein That Associates With TRAF3 2 3
  • TNF Receptor-Associated Factor 3 Interacting Protein 1 2 3
  • Microtubule-Interacting Protein Associated With TRAF3 3 4
  • Intraflagellar Transport Protein 54 Homolog 3 4
  • TRAF3-Interacting Protein 1 3 4
  • MIP-T3 3 4
  • IFT54 3 4
  • MIPT3 3 4
  • Interleukin 13 Receptor Alpha 1-Binding Protein-1 3
  • Interleukin-13 Receptor Alpha 1-Binding Protein 1 4
  • SLSN9 3

External Ids for TRAF3IP1 Gene

Previous GeneCards Identifiers for TRAF3IP1 Gene

  • GC02P239516
  • GC02P239011
  • GC02P238893
  • GC02P239229
  • GC02P231020

Summaries for TRAF3IP1 Gene

Entrez Gene Summary for TRAF3IP1 Gene

  • The protein encoded by this gene interacts with TNF receptor-associated factor 3, tethering it to cytoskeletal microtubules. The encoded protein is also an inhibitor of the innate type I IFN response. Defects in this gene are a cause of Senior-Loken syndrome 9. [provided by RefSeq, Mar 2017]

GeneCards Summary for TRAF3IP1 Gene

TRAF3IP1 (TRAF3 Interacting Protein 1) is a Protein Coding gene. Diseases associated with TRAF3IP1 include Senior-Loken Syndrome 9 and Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly. Among its related pathways are Intraflagellar transport and Organelle biogenesis and maintenance. Gene Ontology (GO) annotations related to this gene include microtubule binding.

UniProtKB/Swiss-Prot Summary for TRAF3IP1 Gene

  • Plays an inhibitory role on IL13 signaling by binding to IL13RA1. Involved in suppression of IL13-induced STAT6 phosphorylation, transcriptional activity and DNA-binding. Recruits TRAF3 and DISC1 to the microtubules. Involved in kidney development and epithelial morphogenesis. Involved in the regulation of microtubule cytoskeleton organization. Is a negative regulator of microtubule stability, acting through the control of MAP4 levels (PubMed:26487268). Involved in ciliogenesis (By similarity).

Additional gene information for TRAF3IP1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TRAF3IP1 Gene

Genomics for TRAF3IP1 Gene

GeneHancer (GH) Regulatory Elements for TRAF3IP1 Gene

Promoters and enhancers for TRAF3IP1 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 TRAF3IP1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TRAF3IP1

Top Transcription factor binding sites by QIAGEN in the TRAF3IP1 gene promoter:
  • AhR
  • aMEF-2
  • Arnt
  • Bach1
  • CREB
  • deltaCREB
  • MEF-2A
  • Pax-4a
  • Pax-5
  • POU6F1 (c2)

Genomic Locations for TRAF3IP1 Gene

Genomic Locations for TRAF3IP1 Gene
chr2:238,320,441-238,400,900
(GRCh38/hg38)
Size:
80,460 bases
Orientation:
Plus strand
chr2:239,229,082-239,309,541
(GRCh37/hg19)
Size:
80,460 bases
Orientation:
Plus strand

Genomic View for TRAF3IP1 Gene

Genes around TRAF3IP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TRAF3IP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TRAF3IP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TRAF3IP1 Gene

Proteins for TRAF3IP1 Gene

  • Protein details for TRAF3IP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TDR0-MIPT3_HUMAN
    Recommended name:
    TRAF3-interacting protein 1
    Protein Accession:
    Q8TDR0
    Secondary Accessions:
    • Q6PCT1
    • Q7L8N9
    • Q9NRD6
    • Q9Y4Q1

    Protein attributes for TRAF3IP1 Gene

    Size:
    691 amino acids
    Molecular mass:
    78632 Da
    Quaternary structure:
    • Component of the IFT complex B, at least composed of IFT20, IFT22, HSPB11/IFT25, IFT27, IFT46, IFT52, TRAF3IP1/IFT54, IFT57, IFT74, IFT80, IFT81, and IFT88. Interacts with IFT88 (By similarity). Interacts with IL13RA1 (PubMed:10791955). Binds to microtubules, TRAF3 and DISC1 (PubMed:12812986, PubMed:12935900). Interacts with MAP4 (By similarity).

    Three dimensional structures from OCA and Proteopedia for TRAF3IP1 Gene

    Alternative splice isoforms for TRAF3IP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TRAF3IP1 Gene

Post-translational modifications for TRAF3IP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for TRAF3IP1 Gene

Domains & Families for TRAF3IP1 Gene

Gene Families for TRAF3IP1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for TRAF3IP1 Gene

Suggested Antigen Peptide Sequences for TRAF3IP1 Gene

GenScript: Design optimal peptide antigens:
  • Microtubule-interacting protein associated with TRAF3 (MIPT3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8TDR0

UniProtKB/Swiss-Prot:

MIPT3_HUMAN :
  • Belongs to the TRAF3IP1 family.
Family:
  • Belongs to the TRAF3IP1 family.
genes like me logo Genes that share domains with TRAF3IP1: view

Function for TRAF3IP1 Gene

Molecular function for TRAF3IP1 Gene

UniProtKB/Swiss-Prot Function:
Plays an inhibitory role on IL13 signaling by binding to IL13RA1. Involved in suppression of IL13-induced STAT6 phosphorylation, transcriptional activity and DNA-binding. Recruits TRAF3 and DISC1 to the microtubules. Involved in kidney development and epithelial morphogenesis. Involved in the regulation of microtubule cytoskeleton organization. Is a negative regulator of microtubule stability, acting through the control of MAP4 levels (PubMed:26487268). Involved in ciliogenesis (By similarity).

Phenotypes From GWAS Catalog for TRAF3IP1 Gene

Gene Ontology (GO) - Molecular Function for TRAF3IP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 10791955
GO:0008017 microtubule binding IEA --
genes like me logo Genes that share ontologies with TRAF3IP1: view
genes like me logo Genes that share phenotypes with TRAF3IP1: view

Human Phenotype Ontology for TRAF3IP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for TRAF3IP1 Gene

miRTarBase miRNAs that target TRAF3IP1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for TRAF3IP1 Gene

Localization for TRAF3IP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TRAF3IP1 Gene

Cytoplasm, cytoskeleton. Cell projection, cilium. Cytoplasm, cytoskeleton, cilium axoneme. Cytoplasm, cytoskeleton, cilium basal body. Note=Microtubules (PubMed:12935900). In the cilium, it is observed at the ciliary base, ciliary transition zone and ciliary tip (PubMed:26487268). {ECO:0000269 PubMed:12935900, ECO:0000269 PubMed:26487268}.

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 TRAF3IP1 gene
Compartment Confidence
cytoskeleton 4
nucleus 4
plasma membrane 1
extracellular 1
mitochondrion 1
endosome 1
cytosol 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for TRAF3IP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IEA,IBA 21873635
GO:0005856 cytoskeleton IEA --
GO:0005929 cilium TAS --
GO:0005930 axoneme IEA,IBA 21873635
genes like me logo Genes that share ontologies with TRAF3IP1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TRAF3IP1 Gene

Pathways & Interactions for TRAF3IP1 Gene

genes like me logo Genes that share pathways with TRAF3IP1: view

Pathways by source for TRAF3IP1 Gene

Gene Ontology (GO) - Biological Process for TRAF3IP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001738 morphogenesis of a polarized epithelium IDA 26487268
GO:0001822 kidney development IMP 26487268
GO:0001933 negative regulation of protein phosphorylation IMP 22079989
GO:0021532 neural tube patterning IEA --
GO:0030030 cell projection organization IEA --
genes like me logo Genes that share ontologies with TRAF3IP1: view

No data available for SIGNOR curated interactions for TRAF3IP1 Gene

Drugs & Compounds for TRAF3IP1 Gene

No Compound Related Data Available

Transcripts for TRAF3IP1 Gene

mRNA/cDNA for TRAF3IP1 Gene

2 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TRAF3IP1 Gene

No ASD Table

Relevant External Links for TRAF3IP1 Gene

GeneLoc Exon Structure for
TRAF3IP1

Expression for TRAF3IP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TRAF3IP1 Gene

Protein differential expression in normal tissues from HIPED for TRAF3IP1 Gene

This gene is overexpressed in Bone (47.3) and Testis (13.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TRAF3IP1 Gene



Protein tissue co-expression partners for TRAF3IP1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TRAF3IP1

SOURCE GeneReport for Unigene cluster for TRAF3IP1 Gene:

Hs.631898

mRNA Expression by UniProt/SwissProt for TRAF3IP1 Gene:

Q8TDR0-MIPT3_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for TRAF3IP1 Gene

  • Nervous system(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TRAF3IP1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • nervous
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • head
  • pituitary gland
Thorax:
  • heart
Abdomen:
  • kidney
  • liver
  • pancreas
Pelvis:
  • urinary bladder
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
genes like me logo Genes that share expression patterns with TRAF3IP1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for TRAF3IP1 Gene

Orthologs for TRAF3IP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for TRAF3IP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TRAF3IP1 31 30
  • 99.01 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Traf3ip1 30
  • 80.54 (n)
cow
(Bos Taurus)
Mammalia TRAF3IP1 31 30
  • 80.31 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TRAF3IP1 31 30
  • 79.92 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Traf3ip1 17 31 30
  • 76.7 (n)
oppossum
(Monodelphis domestica)
Mammalia TRAF3IP1 31
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TRAF3IP1 31
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves TRAF3IP1 31 30
  • 64.75 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TRAF3IP1 31
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia traf3ip1 30
  • 60.58 (n)
zebrafish
(Danio rerio)
Actinopterygii traf3ip1 31 30
  • 62.29 (n)
OneToOne
zgc63522 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6522 30
fruit fly
(Drosophila melanogaster)
Insecta CG3259 31
  • 27 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea dyf-11 31
  • 28 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 40 (a)
OneToOne
Cin.11848 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11848 30
Species where no ortholog for TRAF3IP1 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)
  • 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 TRAF3IP1 Gene

ENSEMBL:
Gene Tree for TRAF3IP1 (if available)
TreeFam:
Gene Tree for TRAF3IP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TRAF3IP1: view image

Paralogs for TRAF3IP1 Gene

No data available for Paralogs for TRAF3IP1 Gene

Variants for TRAF3IP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TRAF3IP1 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
711363 Likely Benign: not provided 238,325,300(+) T/C INTRON_VARIANT
715629 Benign: not provided 238,329,205(+) G/A MISSENSE_VARIANT
717720 Benign: not provided 238,397,683(+) G/A INTRON_VARIANT
717830 Likely Benign: not provided 238,344,536(+) A/C MISSENSE_VARIANT,INTRON_VARIANT
719632 Benign: not provided 238,328,937(+) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for TRAF3IP1 Gene

Structural Variations from Database of Genomic Variants (DGV) for TRAF3IP1 Gene

Variant ID Type Subtype PubMed ID
esv1355575 CNV insertion 17803354
esv2669020 CNV deletion 23128226
esv3594757 CNV gain 21293372
esv3594758 CNV loss 21293372
nsv1000252 CNV loss 25217958
nsv3233 CNV insertion 18451855
nsv472707 CNV novel sequence insertion 20440878

Variation tolerance for TRAF3IP1 Gene

Residual Variation Intolerance Score: 86.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.84; 86.93% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TRAF3IP1 Gene

Human Gene Mutation Database (HGMD)
TRAF3IP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TRAF3IP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TRAF3IP1 Gene

Disorders for TRAF3IP1 Gene

MalaCards: The human disease database

(19) MalaCards diseases for TRAF3IP1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

MIPT3_HUMAN
  • Senior-Loken syndrome 9 (SLSN9) [MIM:616629]: A renal-retinal disorder characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life. {ECO:0000269 PubMed:26487268}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for TRAF3IP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TRAF3IP1: view

No data available for Genatlas for TRAF3IP1 Gene

Publications for TRAF3IP1 Gene

  1. MIP-T3 associates with IL-13Ralpha1 and suppresses STAT6 activation in response to IL-13 stimulation. (PMID: 12935900) Niu Y … Kobayashi N (FEBS letters 2003) 2 3 4 23 54
  2. MIP-T3, a novel protein linking tumor necrosis factor receptor-associated factor 3 to the microtubule network. (PMID: 10791955) Ling L … Goeddel DV (The Journal of biological chemistry 2000) 2 3 4 54
  3. Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization. (PMID: 26487268) Bizet AA … Saunier S (Nature communications 2015) 3 4 54
  4. GWAS findings for human iris patterns: associations with variants in genes that influence normal neuronal pattern development. (PMID: 21835309) Larsson M … Medland SE (American journal of human genetics 2011) 3 41 54
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54

Products for TRAF3IP1 Gene

Sources for TRAF3IP1 Gene