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    Iftap intraflagellar transport associated protein [ Mus musculus (house mouse) ]

    Gene ID: 68170, updated on 14-Apr-2024

    Summary

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    Official Symbol
    Iftapprovided by MGI
    Official Full Name
    intraflagellar transport associated proteinprovided by MGI
    Primary source
    MGI:MGI:1915420
    See related
    Ensembl:ENSMUSG00000027165 AllianceGenome:MGI:1915420
    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
    NWC; B230118H07Rik
    Summary
    Enables intraciliary transport particle A binding activity. Acts upstream of or within acrosome reaction and spermatogenesis. Located in 9+0 non-motile cilium and cytosol. Is expressed in neural retinal epithelium; retina; retina inner nuclear layer; retina nuclear layer; and retina outer nuclear layer. Orthologous to human IFTAP (intraflagellar transport associated protein). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in testis adult (RPKM 6.9), bladder adult (RPKM 6.6) and 19 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    2 E2; 2 53.83 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (101391124..101459376, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (101560779..101629031, complement)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene predicted gene, 39886 Neighboring gene STARR-positive B cell enhancer mm9_chr2:101312844-101313145 Neighboring gene STARR-seq mESC enhancer starr_05230 Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:101391576-101391907 Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:101392526-101392727 Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:101403351-101403564 Neighboring gene predicted gene, 39887 Neighboring gene VISTA enhancer mm1328 Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:101448688-101449009 Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:101464796-101464979 Neighboring gene recombination activating gene 2 Neighboring gene recombination activating 1 Neighboring gene predicted gene, 34041

    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. Lack of NWC protein (c11orf74 homolog) in murine spermatogenesis results in reduced sperm competitiveness and impaired ability to fertilize egg cells in vitro. Majkowski M, et al. PLoS One, 2018. PMID 30521625, Free PMC Article
    2. Complexity of transcriptional regulation within the Rag locus: identification of a second Nwc promoter region within the Rag2 intron. Laszkiewicz A, et al. Immunogenetics, 2011 Mar. PMID 21243488, Free PMC Article
    3. Mechanism of lymphocyte-specific inactivation of RAG-2 intragenic promoter of NWC: implications for epigenetic control of RAG locus. Cebrat M, et al. Mol Immunol, 2008 Apr. PMID 18166226
    4. Search for the Function of NWC, Third Gene Within RAG Locus: Generation and Characterization of NWC-Deficient Mice. Kasztura M, et al. Arch Immunol Ther Exp (Warsz), 2016 Aug. PMID 26703212, Free PMC Article
    5. Ikaros and RAG-2-mediated antisense transcription are responsible for lymphocyte-specific inactivation of NWC promoter. Laszkiewicz A, et al. PLoS One, 2014. PMID 25198102, Free PMC Article

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. NWC-devoid spermatogenesis produces functionally impaired sperm. Sperm of knockout males fail to successfully compete with control sperm. NWC knockout sperm had a reduced ability to fertilize cumulus-intact eggs.
      Title: Lack of NWC protein (c11orf74 homolog) in murine spermatogenesis results in reduced sperm competitiveness and impaired ability to fertilize egg cells in vitro.
    2. functional inactivation of NWC does not cause any gross developmental, physiological or reproductive abnormalities, and that under physiological conditions NWC may be involved in assembling and functioning of cilia
      Title: Search for the Function of NWC, Third Gene Within RAG Locus: Generation and Characterization of NWC-Deficient Mice.
    3. Ikaros, a lymphocyte-specific transcription factor, acts as a repressor of NWC promoter--thus identifying a new Ikaros target--but is insufficient for inducing methylation which depends on antisense transcription driven by RAG-2 promoter
      Title: Ikaros and RAG-2-mediated antisense transcription are responsible for lymphocyte-specific inactivation of NWC promoter.
    4. Bidirectional activity of the NWC promoter is responsible for RAG-2 transcription in non-lymphoid cells
      Title: Bidirectional activity of the NWC promoter is responsible for RAG-2 transcription in non-lymphoid cells.
    5. Careful analysis of the Rag2 intergenic region uncovered a second evolutionarily conserved Nwc promoter region from which a previously unknown Nwc transcript can be generated in nonlymphocytes of Nwctmpro1 and normal mice.
      Title: Complexity of transcriptional regulation within the Rag locus: identification of a second Nwc promoter region within the Rag2 intron.
    6. These results indicate that accessibility of NWC promoter and RAG promoters to trans-acting factors is regulated by different epigenetic mechanisms.
      Title: Mechanism of lymphocyte-specific inactivation of RAG-2 intragenic promoter of NWC: implications for epigenetic control of RAG locus.
    7. NWC is regulated in lymphocytes by RAG1 promoter, in all other cells by RAG2 intragenic promoter
      Title: Identification of a third evolutionarily conserved gene within the RAG locus and its RAG1-dependent and -independent regulation.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: Rag1

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables intraciliary transport particle A binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables intraciliary transport particle A binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables intraciliary transport particle A binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in acrosome reaction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within acrosome reaction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within fertilization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in spermatogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within spermatogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in 9+0 non-motile cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in 9+0 non-motile cilium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    intraflagellar transport-associated protein
    Names
    protein C11orf74 homolog
    uncharacterized protein C11orf74 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_001362687.2 → NP_001349616.1  intraflagellar transport-associated protein isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL929569
      Consensus CDS
      CCDS16461.1
      UniProtKB/Swiss-Prot
      A2AVN5, A2AVN6, Q8C2H0, Q8R186, Q9CQI4
      Related
      ENSMUSP00000087999.5, ENSMUST00000090513.11
      Conserved Domains (1) summary
      pfam17722
      Location:1 → 234
      DUF5567; Family of unknown function (DUF5567)

    2. NM_001362688.2 → NP_001349617.1  intraflagellar transport-associated protein isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL929569
      Consensus CDS
      CCDS89525.1
      UniProtKB/TrEMBL
      I1E4Y3, Z4YK27
      Related
      ENSMUSP00000097274.3, ENSMUST00000099682.9
      Conserved Domains (1) summary
      pfam17722
      Location:1 → 191
      DUF5567; Family of unknown function (DUF5567)

    3. NM_026592.5 → NP_080868.1  intraflagellar transport-associated protein isoform 1

      See identical proteins and their annotated locations for NP_080868.1

      Status: VALIDATED

      Source sequence(s)
      AL929569
      Consensus CDS
      CCDS16461.1
      UniProtKB/Swiss-Prot
      A2AVN5, A2AVN6, Q8C2H0, Q8R186, Q9CQI4
      Related
      ENSMUSP00000106862.4, ENSMUST00000111231.10
      Conserved Domains (1) summary
      pfam17722
      Location:1 → 234
      DUF5567; Family of unknown function (DUF5567)

    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
      101391124..101459376 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9CQI4.1 GenPept UniProtKB/Swiss-Prot:Q9CQI4

    Gene LinkOut

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

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