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    Ift43 intraflagellar transport 43 [ Mus musculus (house mouse) ]

    Gene ID: 76411, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Ift43provided by MGI
    Official Full Name
    intraflagellar transport 43provided by MGI
    Primary source
    MGI:MGI:1923661
    See related
    Ensembl:ENSMUSG00000007867 AllianceGenome:MGI:1923661
    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
    1700019E19Rik
    Summary
    Predicted to be involved in cilium assembly and intraciliary retrograde transport. Predicted to act upstream of or within cell projection organization. Located in cilium. Part of intraciliary transport particle A. Is expressed in several structures, including cardiovascular system; endocrine gland; genitourinary system; mesenteric lymph node; and nervous system. Human ortholog(s) of this gene implicated in cranioectodermal dysplasia 3; retinitis pigmentosa 81; and short-rib thoracic dysplasia 18 with polydactyly. Orthologous to human IFT43 (intraflagellar transport 43). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in testis adult (RPKM 10.6), CNS E11.5 (RPKM 4.4) and 23 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    12 D2; 12 40.16 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 12 NC_000078.7 (86129335..86209233)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 12 NC_000078.6 (86082561..86162459)

    Chromosome 12 - NC_000078.7Genomic Context describing neighboring genes Neighboring gene tubulin tyrosine ligase-like family, member 5 Neighboring gene predicted gene, 51989 Neighboring gene predicted gene, 37804 Neighboring gene transforming growth factor, beta 3 Neighboring gene STARR-seq mESC enhancer starr_32794 Neighboring gene STARR-seq mESC enhancer starr_32801 Neighboring gene predicted gene 805 Neighboring gene predicted gene, 32473 Neighboring gene STARR-positive B cell enhancer ABC_E742 Neighboring gene predicted gene, 40481 Neighboring gene G patch domain containing 2 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. Role for the IFT-A Complex in Selective Transport to the Primary Cilium. Fu W, et al. Cell Rep, 2016 Nov 1. PMID 27806291, Free PMC Article
    2. Regulation of cilium length and intraflagellar transport by the RCK-kinases ICK and MOK in renal epithelial cells. Broekhuis JR, et al. PLoS One, 2014. PMID 25243405, Free PMC Article
    3. TULP3 bridges the IFT-A complex and membrane phosphoinositides to promote trafficking of G protein-coupled receptors into primary cilia. Mukhopadhyay S, et al. Genes Dev, 2010 Oct 1. PMID 20889716, Free PMC Article
    4. The small GTPase RSG1 controls a final step in primary cilia initiation. Agbu SO, et al. J Cell Biol, 2018 Jan 2. PMID 29038301, Free PMC Article
    5. Database resources of the National Center for Biotechnology Information. Wheeler DL, et al. Nucleic Acids Res, 2001 Jan 1. PMID 11125038, Free PMC Article

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (2) 
    • Endonuclease-mediated (3) 

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    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 cell projection organization IEA
    Inferred from Electronic Annotation
    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 
    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 
    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 
    Component Evidence Code Pubs
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in centriolar satellite ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in centriole IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cilium IC
    Inferred by Curator
    more info
    		 PubMed 
    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 cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 microtubule cytoskeleton ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    intraflagellar transport protein 43 homolog
    Names
    intraflagellar transport 43 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_001199843.1 → NP_001186772.1  intraflagellar transport protein 43 homolog isoform 1

      See identical proteins and their annotated locations for NP_001186772.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC134328, BE987571, CF751010
      Consensus CDS
      CCDS88375.1
      UniProtKB/Swiss-Prot
      Q8CFI3, Q8K213, Q9DA69
      Related
      ENSMUSP00000152079.2, ENSMUST00000222821.2
      Conserved Domains (1) summary
      pfam15305
      Location:73 → 190
      IFT43; Intraflagellar transport protein 43

    2. NM_029601.3 → NP_083877.1  intraflagellar transport protein 43 homolog isoform 2

      See identical proteins and their annotated locations for NP_083877.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC134328, AK006115, BE987571
      Consensus CDS
      CCDS26064.1
      UniProtKB/Swiss-Prot
      Q9DA69
      Related
      ENSMUSP00000061891.7, ENSMUST00000054565.8
      Conserved Domains (1) summary
      pfam15305
      Location:71 → 179
      IFT43; Intraflagellar transport protein 43

    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_000078.7 Reference GRCm39 C57BL/6J

      Range
      86129335..86209233
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9DA69.2 GenPept UniProtKB/Swiss-Prot:Q9DA69

    Gene LinkOut

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

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