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TRAF3IP1 TRAF3 interacting protein 1 [ Homo sapiens (human) ]

Gene ID: 26146, updated on 15-Jun-2019

Summary

Official Symbol
TRAF3IP1provided by HGNC
Official Full Name
TRAF3 interacting protein 1provided by HGNC
Primary source
HGNC:HGNC:17861
See related
Ensembl:ENSG00000204104 MIM:607380
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
IFT54; MIPT3; SLSN9; MIP-T3
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 syndrome 9. [provided by RefSeq, Mar 2017]
Expression
Broad expression in testis (RPKM 8.2), thyroid (RPKM 4.0) and 24 other tissues See more
Orthologs

Genomic context

See TRAF3IP1 in Genome Data Viewer
Location:
2q37.3
Exon count:
20
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (238320489..238400900)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (239229185..239309541)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene period circadian regulator 2 Neighboring gene uncharacterized LOC112268433 Neighboring gene uncharacterized LOC105373961 Neighboring gene RNA, U6 small nuclear 234, pseudogene Neighboring gene uncharacterized LOC107986003 Neighboring gene ankyrin repeat and SOCS box containing 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Senior-Loken syndrome 9
MedGen: C4225263 OMIM: 616629 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
GWAS findings for human iris patterns: associations with variants in genes that influence normal neuronal pattern development.
NHGRI GWA Catalog

Pathways from BioSystems

  • Cilium Assembly, organism-specific biosystem (from REACTOME)
    Cilium Assembly, organism-specific biosystemCilia are membrane covered organelles that extend from the surface of eukaryotic cells. Cilia may be motile, such as respiratory cilia) or non-motile (such as the primary cilium) and are distinguishe...
  • Intraflagellar transport, organism-specific biosystem (from REACTOME)
    Intraflagellar transport, organism-specific biosystemIntraflagellar transport (IFT) is a motor-based process that controls the anterograde and retrograde transport of large protein complexes, ciliary cargo and structural components along the ciliary ax...
  • Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
    Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp434F124

Gene Ontology Provided by GOA

Function Evidence Code Pubs
microtubule binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
embryonic camera-type eye development IEA
Inferred from Electronic Annotation
more info
 
embryonic digit morphogenesis IEA
Inferred from Electronic Annotation
more info
 
embryonic heart tube development IEA
Inferred from Electronic Annotation
more info
 
intraciliary transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intraciliary transport involved in cilium assembly TAS
Traceable Author Statement
more info
 
kidney development IMP
Inferred from Mutant Phenotype
more info
PubMed 
morphogenesis of a polarized epithelium IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of defense response to virus IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of interferon-beta production IEA
Inferred from Electronic Annotation
more info
 
negative regulation of protein complex assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of protein phosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning IEA
Inferred from Electronic Annotation
more info
 
negative regulation of type I interferon production IMP
Inferred from Mutant Phenotype
more info
PubMed 
neural tube patterning IEA
Inferred from Electronic Annotation
more info
 
post-anal tail morphogenesis IEA
Inferred from Electronic Annotation
more info
 
regulation of microtubule cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of microtubule cytoskeleton organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
axoneme IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
centrosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ciliary basal body IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ciliary base IDA
Inferred from Direct Assay
more info
PubMed 
ciliary tip IDA
Inferred from Direct Assay
more info
PubMed 
ciliary tip TAS
Traceable Author Statement
more info
 
ciliary transition zone IDA
Inferred from Direct Assay
more info
PubMed 
cilium TAS
Traceable Author Statement
more info
 
intraciliary transport particle B IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intraciliary transport particle B ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
TRAF3-interacting protein 1
Names
TNF receptor-associated factor 3 interacting protein 1
interleukin 13 receptor alpha 1-binding protein-1
intraflagellar transport protein 54 homolog
microtubule interacting protein that associates with TRAF3
microtubule-interacting protein associated with TRAF3

NCBI Reference Sequences (RefSeq)

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_053055.1 RefSeqGene

    Range
    5056..85412
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001139490.1NP_001132962.1  TRAF3-interacting protein 1 isoform 2

    See identical proteins and their annotated locations for NP_001132962.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks two in-frame exons in the 5' coding region, compared to variant 1, and encodes a shorter isoform (2), compared to isoform 1.
    Source sequence(s)
    AF230877, AI356967, BC059174, BX482493
    Consensus CDS
    CCDS46557.1
    UniProtKB/Swiss-Prot
    Q8TDR0
    Related
    ENSP00000375851.3, ENST00000391993.7
    Conserved Domains (1) summary
    pfam10243
    Location:49619
    MIP-T3; Microtubule-binding protein MIP-T3
  2. NM_015650.4NP_056465.2  TRAF3-interacting protein 1 isoform 1

    See identical proteins and their annotated locations for NP_056465.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC012485, AF230877, AF242456, AI356967, BC059174, BX482493
    Consensus CDS
    CCDS33415.1
    UniProtKB/Swiss-Prot
    Q8TDR0
    Related
    ENSP00000362424.4, ENST00000373327.5
    Conserved Domains (2) summary
    PHA03249
    Location:376522
    PHA03249; DNA packaging tegument protein UL25; Provisional
    pfam10243
    Location:49685
    MIP-T3; Microtubule-binding protein MIP-T3

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    238320489..238400900
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011510944.2XP_011509246.1  TRAF3-interacting protein 1 isoform X1

    Conserved Domains (2) summary
    PHA03249
    Location:410556
    PHA03249; DNA packaging tegument protein UL25; Provisional
    pfam10243
    Location:49719
    MIP-T3; Microtubule-binding protein MIP-T3
  2. XM_017003789.1XP_016859278.1  TRAF3-interacting protein 1 isoform X2

  3. XM_011510945.2XP_011509247.1  TRAF3-interacting protein 1 isoform X3

    Conserved Domains (1) summary
    pfam10243
    Location:49706
    MIP-T3; Microtubule-binding protein MIP-T3
  4. XM_011510948.2XP_011509250.1  TRAF3-interacting protein 1 isoform X6

    Conserved Domains (1) summary
    pfam10243
    Location:49653
    MIP-T3; Microtubule-binding protein MIP-T3
  5. XM_006712414.2XP_006712477.1  TRAF3-interacting protein 1 isoform X7

    Conserved Domains (1) summary
    pfam10243
    Location:49618
    MIP-T3; Microtubule-binding protein MIP-T3
  6. XM_011510946.2XP_011509248.1  TRAF3-interacting protein 1 isoform X4

    Conserved Domains (2) summary
    PHA03249
    Location:386532
    PHA03249; DNA packaging tegument protein UL25; Provisional
    pfam10243
    Location:49695
    MIP-T3; Microtubule-binding protein MIP-T3
  7. XM_011510947.2XP_011509249.1  TRAF3-interacting protein 1 isoform X5

    Conserved Domains (2) summary
    PHA03249
    Location:366512
    PHA03249; DNA packaging tegument protein UL25; Provisional
    pfam10243
    Location:5675
    MIP-T3; Microtubule-binding protein MIP-T3
  8. XM_011510950.2XP_011509252.1  TRAF3-interacting protein 1 isoform X8

    Conserved Domains (1) summary
    pfam10243
    Location:42341
    MIP-T3; Microtubule-binding protein MIP-T3

RNA

  1. XR_001738696.1 RNA Sequence

  2. XR_001738697.1 RNA Sequence

  3. XR_922902.2 RNA Sequence

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