Gene Gene information from NCBI Gene database.
Entrez ID 26146
Gene name TRAF3 interacting protein 1
Gene symbol TRAF3IP1
Synonyms (NCBI Gene)
CFAP116FAP116IFT54MIP-T3MIPT3SLSN9
Chromosome 2
Chromosome location 2q37.3
Summary 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 syndr
SNPs SNP information provided by dbSNP.
11
SNP ID Visualize variation Clinical significance Consequence
rs146820102 C>G,T Likely-benign, pathogenic Missense variant, coding sequence variant, non coding transcript variant
rs372499275 G>A,C Pathogenic Genic upstream transcript variant, intron variant, splice acceptor variant
rs750055952 T>G Pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs764906529 G>- Pathogenic Splice acceptor variant
rs765903345 C>T Pathogenic Non coding transcript variant, coding sequence variant, stop gained, genic upstream transcript variant
miRNA miRNA information provided by mirtarbase database.
356
miRTarBase ID miRNA Experiments Reference
MIRT050269 hsa-miR-25-3p CLASH 23622248
MIRT049550 hsa-miR-92a-3p CLASH 23622248
MIRT037104 hsa-miR-877-3p CLASH 23622248
MIRT717319 hsa-miR-320e HITS-CLIP 19536157
MIRT717318 hsa-miR-3184-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
52
GO ID Ontology Definition Evidence Reference
GO:0001650 Component Fibrillar center IDA
GO:0001738 Process Morphogenesis of a polarized epithelium IDA 26487268
GO:0001738 Process Morphogenesis of a polarized epithelium IEA
GO:0001822 Process Kidney development IMP 26487268
GO:0001933 Process Negative regulation of protein phosphorylation IMP 22079989
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607380 17861 ENSG00000204104
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8TDR0
Protein name TRAF3-interacting protein 1 (Interleukin-13 receptor alpha 1-binding protein 1) (Intraflagellar transport protein 54 homolog) (Microtubule-interacting protein associated with TRAF3) (MIP-T3)
Protein 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 developme
PDB 2EQO , 8KCQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10243 MIP-T3 5 117 Microtubule-binding protein MIP-T3 CH-like domain Domain
PF17749 MIP-T3_C 532 685 Microtubule-binding protein MIP-T3 C-terminal region Coiled-coil
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:12935900}.
Sequence
MNAAVVRRTQEALGKVIRRPPLTEKLLSKPPFRYLHDIITEVIRMTGFMKGLYTDAEMKS
DNVKDKDAKISFLQKAIDVVVMVSGEPLLAKPARIVAGHEPERTNELLQIIGKCCLN
KLS
SDDAVRRVLAGEKGEVKGRASLTSRSQELDNKNVREEESRVHKNTEDRGDAEIKERSTSR
DRKQKEELKEDRKPREKDKDKEKAKENGGNRHREGERERAKARARPDNERQKDRGNRERD
RDSERKKETERKSEGGKEKERLRDRDRERDRDKGKDRDRRRVKNGEHSWDLDREKNREHD
KPEKKSASSGEMSKKLSDGTFKDSKAETETEISTRASKSLTTKTSKRRSKNSVEGRKEDN
ISAKSLDSIVSGINNEPNQETTTSEIGTKEANINSTSISDDNSASLRCENIQPNPTEKQK
GDSTSDAEGDAGPAGQDKSEVPETPEIPNELSSNIRRIPRPGSARPAPPRVKRQDSMEAL
QMDRSGSGKTVSNVITESHNSDNEEDDQFVVEAAPQLSEMSEIEMVTAVELEEEEKHGGL
VKKILETKKDYEKLQQSPKPGEKERSLFESAWKKEKDIVSKEIEKLRTSIQTLCKSALPL
GKIMDYIQEDVDAMQNELQMWHSENRQHAEALQQEQRITDCAVEPLKAELAELEQLIKDQ
QDKICAVKANILKNEEKIQKMVYSI
NLTSRR
Sequence length 691
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Intraflagellar transport
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
23
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Cervical cancer Likely pathogenic rs905244464 RCV005925508
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Senior-Loken syndrome 9 Pathogenic; Likely pathogenic rs886037896, rs765903345, rs886037897, rs886037898, rs886037899, rs1358016801, rs745954112 RCV000240625
RCV000240637
RCV000240622
RCV000240633
RCV000240646
View all (2 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Short-rib thoracic dysplasia 6 with or without polydactyly Likely pathogenic; Pathogenic rs769651861, rs372499275 RCV000516088
RCV000515883
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TRAF3IP1-related disorder Likely pathogenic rs372499275 RCV003409730
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Adrenocortical carcinoma, hereditary Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CILIOPATHIES Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CILIOPATHY ClinGen, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Age related macular degeneration Age-related macular degeneration HPO_DG
★☆☆☆☆
Found in Text Mining only
Astigmatism Astigmatism GWASCAT_DG 30306274
★☆☆☆☆
Found in Text Mining only
Cataract Cataract HPO_DG
★☆☆☆☆
Found in Text Mining only
Chronic kidney disease stage 5 Kidney Disease HPO_DG
★☆☆☆☆
Found in Text Mining only
Ciliopathies Ciliopathies BEFREE 26487268
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Ciliopathies Ciliopathy Pubtator 29068549 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Dwarfism Dwarfism HPO_DG
★☆☆☆☆
Found in Text Mining only
Global developmental delay Developmental Delay HPO_DG
★☆☆☆☆
Found in Text Mining only
Hepatic Fibrosis, Congenital Congenital Hepatic Fibrosis HPO_DG
★☆☆☆☆
Found in Text Mining only
Hypertensive disease Hypertension HPO_DG
★☆☆☆☆
Found in Text Mining only