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    Ift81 intraflagellar transport 81 [ Mus musculus (house mouse) ]

    Gene ID: 12589, updated on 9-Dec-2024

    Summary

    Official Symbol
    Ift81provided by MGI
    Official Full Name
    intraflagellar transport 81provided by MGI
    Primary source
    MGI:MGI:1098597
    See related
    Ensembl:ENSMUSG00000029469 AllianceGenome:MGI:1098597
    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
    Cdv1; Cdv-1; Cdv-1r
    Summary
    Predicted to enable tubulin binding activity. Involved in sperm flagellum assembly. Located in cytoplasm; microtubule organizing center; and sperm flagellum. Part of intraciliary transport particle B. Human ortholog(s) of this gene implicated in short-rib thoracic dysplasia 19 with or without polydactyly. Orthologous to human IFT81 (intraflagellar transport 81). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in CNS E11.5 (RPKM 9.1), CNS E18 (RPKM 8.2) and 16 other tissues See more
    Orthologs
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    Genomic context

    See Ift81 in Genome Data Viewer
    Location:
    5 F; 5 62.44 cM
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (122678328..122752614, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (122540265..122614546, complement)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 1700040P09 gene Neighboring gene predicted gene, 22965 Neighboring gene STIP1 homology and U-Box containing protein 1 pseudogene Neighboring gene STARR-positive B cell enhancer ABC_E10347 Neighboring gene predicted gene, 32988 Neighboring gene STARR-seq mESC enhancer starr_14292 Neighboring gene purinergic receptor P2X, ligand-gated ion channel, 7 Neighboring gene microRNA 8115

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables protein binding PubMed 
    enables tubulin binding  
    enables tubulin binding  
    enables tubulin binding  
    Process Evidence Code Pubs
    involved_in cilium assembly  
    involved_in cilium assembly  
    involved_in cilium assembly PubMed 
    involved_in intraciliary anterograde transport PubMed 
    involved_in intraciliary transport  
    acts_upstream_of_or_within intraciliary transport PubMed 
    involved_in intraciliary transport involved in cilium assembly  
    involved_in intraciliary transport involved in cilium assembly  
    involved_in regulation of smoothened signaling pathway  
    involved_in regulation of smoothened signaling pathway  
    involved_in sperm flagellum assembly PubMed 
    involved_in spermatogenesis PubMed 
    involved_in spermatogenesis PubMed 
    Component Evidence Code Pubs
    located_in centriole PubMed 
    located_in centrosome PubMed 
    is_active_in ciliary basal body  
    located_in ciliary basal body  
    located_in ciliary basal body  
    located_in cilium PubMed 
    located_in cilium PubMed 
    located_in cilium  
    located_in cytoplasm PubMed 
    part_of intraciliary transport particle B  
    part_of intraciliary transport particle B PubMed 
    part_of intraciliary transport particle B  
    located_in sperm midpiece PubMed 
    located_in sperm principal piece PubMed 

    General protein information

    Preferred Names
    intraflagellar transport protein 81 homolog
    Names
    carnitine deficiency-associated gene expressed in ventricle 1
    carnitine deficiency-associated protein expressed in ventricle 1
    intraflagellar transport 81 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_001358917.2NP_001345846.1  intraflagellar transport protein 81 homolog isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Variants 1 and 2 both encode the same isoform (a).
      Source sequence(s)
      AC113285, AC114632
      Consensus CDS
      CCDS19650.1
      UniProtKB/Swiss-Prot
      O35594, Q8R4W2, Q9CSA1, Q9EQM1
      Conserved Domains (1) summary
      cl25732
      Location:170547
      SMC_N; RecF/RecN/SMC N terminal domain
    2. NM_001358918.2NP_001345847.1  intraflagellar transport protein 81 homolog isoform b

      Status: VALIDATED

      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.
      Source sequence(s)
      AC113285, AC114632
      Conserved Domains (1) summary
      cl25732
      Location:114491
      SMC_N; RecF/RecN/SMC N terminal domain
    3. NM_001358919.2NP_001345848.1  intraflagellar transport protein 81 homolog isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (c) has a shorter and distinct N-terminus compared to isoform a.
      Source sequence(s)
      AC113285, AC114632
      Conserved Domains (2) summary
      COG1196
      Location:97474
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam18383
      Location:1053
      IFT81_CH; Intraflagellar transport 81 calponin homology domain
    4. NM_001421274.1NP_001408203.1  intraflagellar transport protein 81 homolog isoform b

      Status: VALIDATED

      Source sequence(s)
      AC113285, AC114632
    5. NM_001421275.1NP_001408204.1  intraflagellar transport protein 81 homolog isoform d

      Status: VALIDATED

      Source sequence(s)
      AC113285, AC114632
    6. NM_001421276.1NP_001408205.1  intraflagellar transport protein 81 homolog isoform c

      Status: VALIDATED

      Source sequence(s)
      AC113285, AC114632
    7. NM_001421277.1NP_001408206.1  intraflagellar transport protein 81 homolog isoform e

      Status: VALIDATED

      Source sequence(s)
      AC113285, AC114632
    8. NM_009879.5NP_034009.2  intraflagellar transport protein 81 homolog isoform a

      See identical proteins and their annotated locations for NP_034009.2

      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 isoform (a).
      Source sequence(s)
      AC113285, AC114632
      Consensus CDS
      CCDS19650.1
      UniProtKB/Swiss-Prot
      O35594, Q8R4W2, Q9CSA1, Q9EQM1
      Related
      ENSMUSP00000031426.8, ENSMUST00000031426.14
      Conserved Domains (1) summary
      cl25732
      Location:170547
      SMC_N; RecF/RecN/SMC N terminal domain

    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_000071.7 Reference GRCm39 C57BL/6J

      Range
      122678328..122752614 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011248162.2XP_011246464.1  intraflagellar transport protein 81 homolog isoform X1

      Conserved Domains (2) summary
      COG1196
      Location:170547
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam18383
      Location:3126
      IFT81_CH; Intraflagellar transport 81 calponin homology domain
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