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TRAF3IP1 (TRAF3 interacting protein 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
26146
Gene nameGene Name - the full gene name approved by the HGNC.
TRAF3 interacting protein 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
TRAF3IP1
SynonymsGene synonyms aliases
CFAP116, FAP116, IFT54, MIP-T3, MIPT3, SLSN9
ChromosomeChromosome number
2
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q37.3
SummarySummary of gene provided in NCBI Entrez 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 syndr
SNPsSNP information provided by dbSNP.
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
miRNAmiRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001738 Process Morphogenesis of a polarized epithelium IDA 26487268
GO:0001822 Process Kidney development IMP 26487268
GO:0001933 Process Negative regulation of protein phosphorylation IMP 22079989
GO:0005515 Function Protein binding IPI 10791955, 12812986, 12935900, 17043677, 20391533, 30021884, 31413325
GO:0005813 Component Centrosome IBA 21873635
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID 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
Sequence
MNAAVVRRTQEALGKVIRRPPLTEKLLSKPPFRYLHDIITEVIRMTGFMKGLYTDAEMKS
DNVKDKDAKISFLQKAIDVVVMVSGEPLLAKPARIVAGHEPERTNELLQIIGKCCLN
KLS
SDDAVRRVLAGEKGEVKGRASLTSRSQELDNKNVREEESRVHKNTEDRGDAEIKERSTSR
DRKQKEELKEDRKPREKDKDKEKAKENGGNRHREGERERAKARARPDNERQKDRGNRERD
RDSERKKETERKSEGGKEKERLRDRDRERDRDKGKDRDRRRVKNGEHSWDLDREKNREHD
KPEKKSASSGEMSKKLSDGTFKDSKAETETEISTRASKSLTTKTSKRRSKNSVEGRKEDN
ISAKSLDSIVSGINNEPNQETTTSEIGTKEANINSTSISDDNSASLRCENIQPNPTEKQK
GDSTSDAEGDAGPAGQDKSEVPETPEIPNELSSNIRRIPRPGSARPAPPRVKRQDSMEAL
QMDRSGSGKTVSNVITESHNSDNEEDDQFVVEAAPQLSEMSEIEMVTAVELEEEEKHGGL
VKKILETKKDYEKLQQSPKPGEKERSLFESAWKKEKDIVSKEIEKLRTSIQTLCKSALPL
GKIMDYIQEDVDAMQNELQMWHSENRQHAEALQQEQRITDCAVEPLKAELAELEQLIKDQ
QDKICAVKANILKNEEKIQKMVYSI
NLTSRR
Sequence length 691
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
Reactome
    Intraflagellar transport
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Cataract Cataract rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Hypertension Hypertensive disease rs13306026, rs13333226
Jeune thoracic dystrophy Jeune thoracic dystrophy rs137853025, rs137853028, rs137853030, rs137853031, rs137853032, rs431905500, rs201188361, rs587776909, rs397514637, rs431905507, rs199952377, rs431905521, rs587777352, rs750396637, rs755338872, rs794727595, rs776315442, rs780539887, rs864622358, rs864622111, rs200460601, rs755883373, rs878852996, rs754919042, rs770185023, rs201858128, rs771487311, rs773858865, rs1043384862, rs562139820, rs771003300, rs754049402, rs552436294, rs943680446, rs746068882, rs368631447, rs1202784860, rs1236962991, rs1453462442, rs1553316926, rs776631281, rs764906529, rs1553753582, rs372576954, rs1553905326, rs748656635, rs377160857, rs1215108056, rs772599282, rs1191056931, rs745603321, rs1553815019, rs1553836165, rs761707323, rs1554770453, rs1554771175, rs555811074, rs755305630, rs771511132, rs762873763, rs764769351, rs369614706, rs371011047, rs748906528, rs1555042801, rs1555043520, rs373335226, rs1555049536, rs1555051720, rs745870321, rs1555052511, rs1555052524, rs1555053115, rs901629870, rs762666243, rs1555056464, rs1380132788, rs1555057838, rs753662982, rs747348765, rs1555063811, rs537704873, rs1350329646, rs758155107, rs1196317554, rs747857715, rs969015057, rs1555068270, rs1555068636, rs1555070451, rs1555071484, rs1555071503, rs776407305, rs373924400, rs1218198013, rs780600124, rs1261505725, rs200710887, rs1555081345, rs181011657, rs759649136, rs1555098222, rs1453448143, rs766816050, rs368654019, rs1555052497, rs1223907858, rs759549373, rs1555096711, rs200335504, rs1555038664, rs747165335, rs1565311145, rs1565317399, rs1260978141, rs1565329461, rs767846762, rs376892534, rs1566883760, rs1309577378, rs1565423740, rs1565371538, rs1565359085, rs1159774355, rs1291197898, rs751891969, rs1565390180, rs1558104145, rs1401798992, rs561778796, rs1266078341, rs1565368793, rs373536938, rs765454943, rs1160036887, rs767206815, rs372878677
Unknown
Disease name Disease term dbSNP ID References
Astigmatism Astigmatism 30306274
Congenital hepatic fibrosis Hepatic Fibrosis, Congenital
Dwarfism Dwarfism
Majewski syndrome Majewski Syndrome 29068549

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