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    IFT140 intraflagellar transport 140 [ Homo sapiens (human) ]

    Gene ID: 9742, updated on 8-Jul-2021

    Summary

    Official Symbol
    IFT140provided by HGNC
    Official Full Name
    intraflagellar transport 140provided by HGNC
    Primary source
    HGNC:HGNC:29077
    See related
    Ensembl:ENSG00000187535 MIM:614620
    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
    RP80; MZSDS; SRTD9; WDTC2; gs114; c305C8.4; c380F5.1
    Summary
    This gene encodes one of the subunits of the intraflagellar transport (IFT) complex A. Intraflagellar transport is involved in the genesis, resorption and signaling of primary cilia. The primary cilium is a microtubule-based sensory organelle at the surface of most quiescent mammalian cells, that receives signals from its environment, such as the flow of fluid, light or odors, and transduces those signals to the nucleus. Loss of the corresponding protein in mouse results in renal cystic disease. [provided by RefSeq, Jun 2012]
    Expression
    Broad expression in testis (RPKM 6.4), thyroid (RPKM 4.0) and 24 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See IFT140 in Genome Data Viewer
    Location:
    16p13.3
    Exon count:
    40
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (1510427..1612072, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (1560428..1662073, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene RPS3A pseudogene 2 Neighboring gene pentraxin 4 Neighboring gene telomere maintenance 2 Neighboring gene transmembrane protein 204 Neighboring gene uncharacterized LOC105371046 Neighboring gene cramped chromatin regulator homolog 1 Neighboring gene Jupiter microtubule associated homolog 2

    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 Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ10306, FLJ30571, KIAA0590, DKFZp564L232

    Gene Ontology Provided by GOA

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

    General protein information

    Preferred Names
    intraflagellar transport protein 140 homolog
    Names
    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.

    Genomic

    1. NG_032783.1 RefSeqGene

      Range
      5037..106682
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_014714.4NP_055529.2  intraflagellar transport protein 140 homolog

      See identical proteins and their annotated locations for NP_055529.2

      Status: REVIEWED

      Source sequence(s)
      AW245075, BC035577, DC401677
      Consensus CDS
      CCDS10439.1
      UniProtKB/Swiss-Prot
      Q96RY7
      Related
      ENSP00000406012.2, ENST00000426508.7
      Conserved Domains (5) summary
      COG2319
      Location:102434
      WD40; WD40 repeat [General function prediction only]
      sd00006
      Location:957983
      TPR; TPR repeat [structural motif]
      sd00039
      Location:1959
      7WD40; WD40 repeat [structural motif]
      cl25539
      Location:19121
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      cl26002
      Location:9511233
      TPR_11; TPR repeat

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

      Range
      1510427..1612072 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011522766.3XP_011521068.1  intraflagellar transport protein 140 homolog isoform X2

      Conserved Domains (4) summary
      COG2319
      Location:102434
      WD40; WD40 repeat [General function prediction only]
      sd00006
      Location:721755
      TPR; TPR repeat [structural motif]
      sd00039
      Location:1959
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:15229
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    2. XM_006720990.3XP_006721053.1  intraflagellar transport protein 140 homolog isoform X1

      See identical proteins and their annotated locations for XP_006721053.1

      UniProtKB/Swiss-Prot
      Q96RY7
      Conserved Domains (5) summary
      COG2319
      Location:102434
      WD40; WD40 repeat [General function prediction only]
      sd00006
      Location:957983
      TPR; TPR repeat [structural motif]
      sd00039
      Location:1959
      7WD40; WD40 repeat [structural motif]
      cl25539
      Location:19121
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      cl26002
      Location:9511233
      TPR_11; TPR repeat
    3. XM_006720991.3XP_006721054.1  intraflagellar transport protein 140 homolog isoform X1

      See identical proteins and their annotated locations for XP_006721054.1

      UniProtKB/Swiss-Prot
      Q96RY7
      Conserved Domains (5) summary
      COG2319
      Location:102434
      WD40; WD40 repeat [General function prediction only]
      sd00006
      Location:957983
      TPR; TPR repeat [structural motif]
      sd00039
      Location:1959
      7WD40; WD40 repeat [structural motif]
      cl25539
      Location:19121
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      cl26002
      Location:9511233
      TPR_11; TPR repeat
    4. XM_017023910.1XP_016879399.1  intraflagellar transport protein 140 homolog isoform X1

      UniProtKB/Swiss-Prot
      Q96RY7
      Conserved Domains (5) summary
      COG2319
      Location:102434
      WD40; WD40 repeat [General function prediction only]
      sd00006
      Location:957983
      TPR; TPR repeat [structural motif]
      sd00039
      Location:1959
      7WD40; WD40 repeat [structural motif]
      cl25539
      Location:19121
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      cl26002
      Location:9511233
      TPR_11; TPR repeat
    5. XM_017023911.1XP_016879400.1  intraflagellar transport protein 140 homolog isoform X4

    6. XM_011522767.2XP_011521069.1  intraflagellar transport protein 140 homolog isoform X3

      Conserved Domains (2) summary
      TIGR02917
      Location:626908
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:478512
      TPR; TPR repeat [structural motif]
    7. XM_006720992.3XP_006721055.1  intraflagellar transport protein 140 homolog isoform X10

      Related
      ENSP00000354895.5, ENST00000361339.9
    8. XM_011522771.3XP_011521073.1  intraflagellar transport protein 140 homolog isoform X7

      Conserved Domains (3) summary
      COG2319
      Location:102434
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:2155
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:15229
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    9. XM_011522772.3XP_011521074.1  intraflagellar transport protein 140 homolog isoform X8

      Conserved Domains (3) summary
      COG2319
      Location:102434
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:2155
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:15229
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    10. XM_005255725.5XP_005255782.1  intraflagellar transport protein 140 homolog isoform X6

      Conserved Domains (3) summary
      COG2319
      Location:102434
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:2155
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:15229
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    11. XM_005255726.4XP_005255783.1  intraflagellar transport protein 140 homolog isoform X9

      Conserved Domains (3) summary
      COG2319
      Location:102434
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:2155
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:15229
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    12. XM_011522769.3XP_011521071.1  intraflagellar transport protein 140 homolog isoform X5

      Related
      ENST00000439987.6
      Conserved Domains (3) summary
      COG2319
      Location:102434
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:2155
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:15229
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
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