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    Ift52 intraflagellar transport 52 [ Mus musculus (house mouse) ]

    Gene ID: 245866, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Ift52provided by MGI
    Official Full Name
    intraflagellar transport 52provided by MGI
    Primary source
    MGI:MGI:2387217
    See related
    Ensembl:ENSMUSG00000017858 AllianceGenome:MGI:2387217
    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
    NGD5
    Summary
    Acts upstream of or within several processes, including embryonic morphogenesis; negative regulation of keratinocyte proliferation; and non-motile cilium assembly. Located in several cellular components, including ciliary base; ciliary tip; and microtubule organizing center. Part of intraciliary transport particle B. Human ortholog(s) of this gene implicated in asphyxiating thoracic dystrophy. Orthologous to human IFT52 (intraflagellar transport 52). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in testis adult (RPKM 14.3), bladder adult (RPKM 14.2) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Ift52 in Genome Data Viewer
    Location:
    2; 2 H2
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (162859200..162888075)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (163017117..163046155)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene Neighboring gene serum/glucocorticoid regulated kinase 2 Neighboring gene STARR-seq mESC enhancer starr_06293 Neighboring gene STARR-seq mESC enhancer starr_06295 Neighboring gene STARR-positive B cell enhancer ABC_E6013 Neighboring gene myeloblastosis oncogene-like 2 Neighboring gene STARR-seq mESC enhancer starr_06298 Neighboring gene microRNA 7003 Neighboring gene gametocyte specific factor 1-like

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Molecular cloning of a novel protein regulated by opioid treatment of NG108-15 cells. Wick MJ, et al. Brain Res Mol Brain Res, 1995 Aug. PMID 7494458
    2. The bld1 mutation identifies the Chlamydomonas osm-6 homolog as a gene required for flagellar assembly. Brazelton WJ, et al. Curr Biol, 2001 Oct 16. PMID 11676919
    3. The intraflagellar transport protein IFT52 associated with short-rib thoracic dysplasia is essential for ciliary function in osteogenic differentiation in vitro and for sensory perception in Drosophila. Guleria VS, et al. Exp Cell Res, 2022 Sep 15. PMID 35839863
    4. The intraflagellar transport protein IFT20 is associated with the Golgi complex and is required for cilia assembly. Follit JA, et al. Mol Biol Cell, 2006 Sep. PMID 16775004, Free PMC Article
    5. Intraflagellar transport molecules in ciliary and nonciliary cells of the retina. Sedmak T, et al. J Cell Biol, 2010 Apr 5. PMID 20368623, Free PMC Article

    See all (38) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The intraflagellar transport protein IFT52 associated with short-rib thoracic dysplasia is essential for ciliary function in osteogenic differentiation in vitro and for sensory perception in Drosophila.
      Title: The intraflagellar transport protein IFT52 associated with short-rib thoracic dysplasia is essential for ciliary function in osteogenic differentiation in vitro and for sensory perception in Drosophila.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (4) 
    • Transgenic (1) 

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC47065

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cilium assembly ISO
    Inferred from Sequence Orthology
    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 dorsal/ventral pattern formation 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 looping IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in intraciliary anterograde transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in intraciliary anterograde transport NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in intraciliary transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within intraciliary transport IC
    Inferred by Curator
    more info
    		 PubMed 
    acts_upstream_of keratinocyte proliferation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within negative regulation of keratinocyte proliferation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within neural tube formation 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 regulation of protein processing IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within smoothened signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in centriole IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in centriole IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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
    		 PubMed 
    located_in ciliary base IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in ciliary base ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in ciliary tip IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cilium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cilium NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in cilium TAS
    Traceable Author Statement
    more info
    		  
    located_in dendrite terminus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of intraciliary transport particle B IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of intraciliary transport particle B IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of intraciliary transport particle B ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in photoreceptor cell cilium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in photoreceptor connecting cilium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in photoreceptor connecting cilium ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    intraflagellar transport protein 52 homolog
    Names
    intraflagellar transport 52 homolog

    NCBI Reference Sequences (RefSeq)

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    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_001356522.1 → NP_001343451.1  intraflagellar transport protein 52 homolog

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AK144188, BG083302
      Consensus CDS
      CCDS17005.1
      UniProtKB/Swiss-Prot
      Q3TK21, Q62559, Q8BTX3, Q8CI16
      Conserved Domains (1) summary
      cl23805
      Location:28 → 116
      ABC_transp_aux; ABC-type uncharacterized transport system

    2. NM_172150.5 → NP_742162.2  intraflagellar transport protein 52 homolog

      See identical proteins and their annotated locations for NP_742162.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AK167194, BG083302, BU850644
      Consensus CDS
      CCDS17005.1
      UniProtKB/Swiss-Prot
      Q3TK21, Q62559, Q8BTX3, Q8CI16
      Related
      ENSMUSP00000018002.7, ENSMUST00000018002.13
      Conserved Domains (1) summary
      cl23805
      Location:28 → 116
      ABC_transp_aux; ABC-type uncharacterized transport system

    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_000068.8 Reference GRCm39 C57BL/6J

      Range
      162859200..162888075
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_374472.5 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q62559.2 GenPept UniProtKB/Swiss-Prot:Q62559

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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