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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.
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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

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