Format

Send to:

Choose Destination
    • Showing Current items.

    IFT46 intraflagellar transport 46 [ Homo sapiens (human) ]

    Gene ID: 56912, updated on 12-Aug-2018

    Summary

    Official Symbol
    IFT46provided by HGNC
    Official Full Name
    intraflagellar transport 46provided by HGNC
    Primary source
    HGNC:HGNC:26146
    See related
    Ensembl:ENSG00000118096 Vega:OTTHUMG00000166408
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CFAP32; C11orf2; C11orf60
    Expression
    Ubiquitous expression in testis (RPKM 6.3), thyroid (RPKM 5.1) and 25 other tissues See more
    Orthologs

    Genomic context

    See IFT46 in Genome Data Viewer
    Location:
    11q23.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (118544528..118576456, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (118415243..118436791, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene lysine methyltransferase 2A Neighboring gene uncharacterized LOC101929089 Neighboring gene tetratricopeptide repeat domain 36 Neighboring gene transmembrane protein 25 Neighboring gene ribosomal protein L5 pseudogene 30 Neighboring gene archain 1 Neighboring gene RNA, U6 small nuclear 1157, pseudogene Neighboring gene pleckstrin homology like domain family B member 1 Neighboring gene microRNA 6716

    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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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

    • FLJ21827

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    molecular_function ND
    No biological Data available
    more info
     
    protein C-terminus binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    biological_process ND
    No biological Data available
    more info
     
    cilium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    intraciliary transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    intraciliary transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    intraciliary transport involved in cilium assembly TAS
    Traceable Author Statement
    more info
     
    protein stabilization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    smoothened signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    colocalizes_with ciliary basal body ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    ciliary tip TAS
    Traceable Author Statement
    more info
     
    cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cilium TAS
    Traceable Author Statement
    more info
     
    cytoplasm IDA
    Inferred from Direct Assay
    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
     
    motile cilium ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    intraflagellar transport protein 46 homolog
    Names
    UPF0360
    cilia and flagella associated protein 32
    intraflagellar transport 46 homolog
    intraflagellar transport protein IFT46

    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.

    mRNA and Protein(s)

    1. NM_001168618.1NP_001162089.1  intraflagellar transport protein 46 homolog isoform 2

      See identical proteins and their annotated locations for NP_001162089.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region compared to variant 1. The encoded isoform (2) is shorter compared to isoform 1.
      Source sequence(s)
      AK289521, BC022856, DA251912
      Consensus CDS
      CCDS53718.1
      UniProtKB/Swiss-Prot
      Q9NQC8
      Related
      ENSP00000264021.3, OTTHUMP00000232826, ENST00000264021.7, OTTHUMT00000389627
      Conserved Domains (1) summary
      pfam12317
      Location:65267
      IFT46_B_C; Intraflagellar transport complex B protein 46 C terminal
    2. NM_020153.3NP_064538.3  intraflagellar transport protein 46 homolog isoform 1

      See identical proteins and their annotated locations for NP_064538.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK025480, AK289521, AP000941, BC022856, DA251912
      Consensus CDS
      CCDS8399.1
      UniProtKB/Swiss-Prot
      Q9NQC8
      UniProtKB/TrEMBL
      A0A024R3G9
      Related
      ENSP00000264020.2, OTTHUMP00000232827, ENST00000264020.6, OTTHUMT00000389628
      Conserved Domains (1) summary
      pfam12317
      Location:116318
      IFT46_B_C; Intraflagellar transport complex B protein 46 C terminal

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

      Range
      118544528..118576456 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011542906.3XP_011541208.1  intraflagellar transport protein 46 homolog isoform X2

      See identical proteins and their annotated locations for XP_011541208.1

      UniProtKB/Swiss-Prot
      Q9NQC8
      Conserved Domains (1) summary
      pfam12317
      Location:65267
      IFT46_B_C; Intraflagellar transport complex B protein 46 C terminal
    2. XM_017018018.2XP_016873507.1  intraflagellar transport protein 46 homolog isoform X2

      UniProtKB/Swiss-Prot
      Q9NQC8
      Conserved Domains (1) summary
      pfam12317
      Location:65267
      IFT46_B_C; Intraflagellar transport complex B protein 46 C terminal
    3. XM_011542905.3XP_011541207.1  intraflagellar transport protein 46 homolog isoform X1

      See identical proteins and their annotated locations for XP_011541207.1

      UniProtKB/TrEMBL
      A0A024R3G9
      Conserved Domains (1) summary
      pfam12317
      Location:116318
      IFT46_B_C; Intraflagellar transport complex B protein 46 C terminal
    4. XM_017018017.1XP_016873506.1  intraflagellar transport protein 46 homolog isoform X1

      UniProtKB/TrEMBL
      A0A024R3G9
      Conserved Domains (1) summary
      pfam12317
      Location:116318
      IFT46_B_C; Intraflagellar transport complex B protein 46 C terminal
    Support Center