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    Ift140 intraflagellar transport 140 [ Mus musculus (house mouse) ]

    Gene ID: 106633, updated on 3-Dec-2024

    Summary

    Official Symbol
    Ift140provided by MGI
    Official Full Name
    intraflagellar transport 140provided by MGI
    Primary source
    MGI:MGI:2146906
    See related
    Ensembl:ENSMUSG00000024169 AllianceGenome:MGI:2146906
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Tce5; Wdtc2; mKIAA0590
    Summary
    Acts upstream of or within several processes, including cilium organization; embryonic organ development; and regionalization. Located in cytoskeleton and photoreceptor cell cilium. Part of intraciliary transport particle A. Is expressed in several structures, including adrenal gland; bone; eye; heart; and perichondrium. Used to study asphyxiating thoracic dystrophy 1 and short-rib thoracic dysplasia 9 with or without polydactyly. Human ortholog(s) of this gene implicated in retinitis pigmentosa and short-rib thoracic dysplasia 9 with or without polydactyly. Orthologous to human IFT140 (intraflagellar transport 140). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in testis adult (RPKM 39.8), liver E14.5 (RPKM 18.4) and 23 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Ift140 in Genome Data Viewer
    Location:
    17 A3.3; 17 12.53 cM
    Exon count:
    33
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (25235056..25318461)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (25016083..25099499)

    Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E1500 Neighboring gene Jupiter microtubule associated homolog 2 Neighboring gene cramped chromatin regulator 1 Neighboring gene STARR-positive B cell enhancer ABC_E396 Neighboring gene STARR-positive B cell enhancer ABC_E11631 Neighboring gene transmembrane protein 204 Neighboring gene telomere maintenance 2 Neighboring gene pentraxin 4

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC170632

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
     
    Process Evidence Code Pubs
    acts_upstream_of_or_within cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cilium assembly ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cilium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cilium assembly NAS
    Non-traceable Author Statement
    more info
    PubMed 
    acts_upstream_of_or_within determination of left/right symmetry IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within embryonic brain development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within embryonic camera-type eye development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within embryonic cranial skeleton morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within embryonic digit morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within heart development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in intraciliary retrograde transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within intraciliary retrograde transport IC
    Inferred by Curator
    more info
    PubMed 
    acts_upstream_of_or_within intraciliary retrograde transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in intraciliary retrograde transport ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in intraciliary retrograde transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    acts_upstream_of_or_within intraciliary transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within limb morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within neural tube patterning IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within non-motile cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within photoreceptor cell outer segment organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within protein localization to cilium ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein localization to cilium ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of cilium assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of cilium assembly ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within regulation of smoothened signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in axoneme IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in axoneme IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in centriole IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in centrosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in centrosome ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in ciliary basal body IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in ciliary basal body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in ciliary basal body ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cilium ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cilium NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in cone photoreceptor outer segment IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of intraciliary transport particle A IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of intraciliary transport particle A IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of intraciliary transport particle A ISO
    Inferred from Sequence Orthology
    more info
     
    located_in non-motile cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in photoreceptor connecting cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    intraflagellar transport protein 140 homolog
    Names
    T-complex expressed gene 5
    WD and tetratricopeptide repeats 2
    WD and tetratricopeptide repeats protein 2
    intraflagellar transport 140 homolog

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_001410317.1NP_001397246.1  intraflagellar transport protein 140 homolog isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC130711, AC154229
      UniProtKB/TrEMBL
      A0A3B2W3F6
    2. NM_001410318.1NP_001397247.1  intraflagellar transport protein 140 homolog isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC130711, AC154229
      UniProtKB/TrEMBL
      A0A3B2W3F6
    3. NM_001410319.1NP_001397248.1  intraflagellar transport protein 140 homolog isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC130711, AC154229
      UniProtKB/Swiss-Prot
      B2RSU5, E9PY46, Q2XQY6
      UniProtKB/TrEMBL
      A0A3B2W3F6
    4. NM_001410320.1NP_001397249.1  intraflagellar transport protein 140 homolog isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC130711, AC154229
      UniProtKB/TrEMBL
      A0A3B2W3F6
    5. NM_001410321.1NP_001397250.1  intraflagellar transport protein 140 homolog isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC130711, AC154229
    6. NM_134126.4NP_598887.3  intraflagellar transport protein 140 homolog isoform 1

      See identical proteins and their annotated locations for NP_598887.3

      Status: VALIDATED

      Source sequence(s)
      AC130711, AC154229
      Consensus CDS
      CCDS28505.1
      UniProtKB/Swiss-Prot
      B2RSU5, E9PY46, Q2XQY6
      UniProtKB/TrEMBL
      A0A3B2W3F6
      Related
      ENSMUSP00000024983.6, ENSMUST00000024983.12
      Conserved Domains (4) summary
      COG0457
      Location:8321092
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      COG2319
      Location:86437
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:1957
      7WD40; WD40 repeat [structural motif]
      pfam04097
      Location:10471228
      Nic96; Nup93/Nic96

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000083.7 Reference GRCm39 C57BL/6J

      Range
      25235056..25318461
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006523403.5XP_006523466.1  intraflagellar transport protein 140 homolog isoform X1

      See identical proteins and their annotated locations for XP_006523466.1

      UniProtKB/Swiss-Prot
      B2RSU5, E9PY46, Q2XQY6
      UniProtKB/TrEMBL
      A0A3B2W3F6
      Conserved Domains (4) summary
      COG0457
      Location:8321092
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      COG2319
      Location:86437
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:1957
      7WD40; WD40 repeat [structural motif]
      pfam04097
      Location:10471228
      Nic96; Nup93/Nic96
    2. XM_006523404.4XP_006523467.1  intraflagellar transport protein 140 homolog isoform X2

      UniProtKB/TrEMBL
      A0A3B2W3F6
      Related
      ENSMUSP00000116163.2, ENSMUST00000137386.8
      Conserved Domains (4) summary
      COG0457
      Location:8321092
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      COG2319
      Location:86437
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:1957
      7WD40; WD40 repeat [structural motif]
      pfam04097
      Location:10471228
      Nic96; Nup93/Nic96
    3. XM_006523408.5XP_006523471.1  intraflagellar transport protein 140 homolog isoform X5

      Conserved Domains (3) summary
      COG2319
      Location:86437
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:1957
      7WD40; WD40 repeat [structural motif]
      pfam12928
      Location:455506
      tRNA_int_end_N2; tRNA-splicing endonuclease subunit sen54 N-term
    4. XM_006523407.5XP_006523470.1  intraflagellar transport protein 140 homolog isoform X4

      Conserved Domains (2) summary
      COG2319
      Location:86437
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:1957
      7WD40; WD40 repeat [structural motif]