Format

Send to:

Choose Destination
    • Showing Current items.

    IFT80 intraflagellar transport 80 [ Homo sapiens (human) ]

    Gene ID: 57560, updated on 8-Jul-2021

    Summary

    Official Symbol
    IFT80provided by HGNC
    Official Full Name
    intraflagellar transport 80provided by HGNC
    Primary source
    HGNC:HGNC:29262
    See related
    Ensembl:ENSG00000068885 MIM:611177
    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
    ATD2; SRTD2; WDR56; FAP167
    Summary
    The protein encoded by this gene is part of the intraflagellar transport complex B and is necessary for the function of motile and sensory cilia. Defects in this gene are a cause of asphyxiating thoracic dystrophy 2 (ATD2). Three transcript variants encoding two different isoforms have been found for this gene.[provided by RefSeq, Jun 2010]
    Expression
    Ubiquitous expression in testis (RPKM 12.7), brain (RPKM 10.4) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See IFT80 in Genome Data Viewer
    Location:
    3q25.33
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (160256986..160399225, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (159974774..160117013, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene IL12A antisense RNA 1 Neighboring gene uncharacterized LOC107986149 Neighboring gene TRIM59-IFT80 protein Neighboring gene chromosome 3 open reading frame 80 Neighboring gene ribosomal protein L35a pseudogene 10 Neighboring gene microRNA 16-2 Neighboring gene microRNA 15b Neighboring gene structural maintenance of chromosomes 4

    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

    • KIAA1374, MGC126543

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in articular cartilage development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in bone mineralization involved in bone maturation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in endochondral ossification IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in growth plate cartilage chondrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in limb development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of epithelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of non-canonical Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in non-motile cilium assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in osteoblast differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in osteoblast proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in receptor localization to non-motile cilium IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in smoothened signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in 9+0 non-motile cilium IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in ciliary basal body IEA
    Inferred from Electronic Annotation
    more info
     
    located_in ciliary tip TAS
    Traceable Author Statement
    more info
     
    is_active_in cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cilium TAS
    Traceable Author Statement
    more info
     
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    part_of intraciliary transport particle B IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of intraciliary transport particle B ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    intraflagellar transport protein 80 homolog
    Names
    WD repeat domain 56
    WD repeat-containing protein 56
    intraflagellar transport 80 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_022932.1 RefSeqGene

      Range
      5308..147547
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001190241.2NP_001177170.1  intraflagellar transport protein 80 homolog isoform b

      See identical proteins and their annotated locations for NP_001177170.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2 and 3 both encode the same isoform.
      Source sequence(s)
      AB037795, AK125342, BC030774, CA421514
      Consensus CDS
      CCDS54668.1
      UniProtKB/Swiss-Prot
      Q9P2H3
      Related
      ENSP00000420646.1, ENST00000496589.5
      Conserved Domains (3) summary
      COG2319
      Location:3423
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:1349
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:12176
      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. NM_001190242.2NP_001177171.1  intraflagellar transport protein 80 homolog isoform b

      See identical proteins and their annotated locations for NP_001177171.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2 and 3 both encode the same isoform.
      Source sequence(s)
      AB037795, CA421514, DR000297
      Consensus CDS
      CCDS54668.1
      UniProtKB/Swiss-Prot
      Q9P2H3
      Related
      ENSP00000418196.1, ENST00000483465.5
      Conserved Domains (3) summary
      COG2319
      Location:3423
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:1349
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:12176
      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 ...
    3. NM_020800.3NP_065851.1  intraflagellar transport protein 80 homolog isoform a

      See identical proteins and their annotated locations for NP_065851.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a).
      Source sequence(s)
      AB037795, AK125342, CA421514
      Consensus CDS
      CCDS3188.1
      UniProtKB/Swiss-Prot
      Q9P2H3
      Related
      ENSP00000312778.7, ENST00000326448.12
      Conserved Domains (2) summary
      sd00039
      Location:110145
      7WD40; WD40 repeat [structural motif]
      cl25539
      Location:17254
      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 ...

    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_000003.12 Reference GRCh38.p13 Primary Assembly

      Range
      160256986..160399225 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center