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    D630045J12Rik RIKEN cDNA D630045J12 gene [ Mus musculus (house mouse) ]

    Gene ID: 330286, updated on 28-Oct-2024

    Summary

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    Official Symbol
    D630045J12Rikprovided by MGI
    Official Full Name
    RIKEN cDNA D630045J12 geneprovided by MGI
    Primary source
    MGI:MGI:2669829
    See related
    Ensembl:ENSMUSG00000063455 AllianceGenome:MGI:2669829
    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
    Kiaa1549; mKIAA1549
    Summary
    Located in photoreceptor connecting cilium. Is expressed in several structures, including central nervous system; dorsal root ganglion; retina; tooth; and trachea cartilaginous ring. Human ortholog(s) of this gene implicated in retinitis pigmentosa 86. Orthologous to human KIAA1549 (KIAA1549). [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Broad expression in whole brain E14.5 (RPKM 12.1), CNS E18 (RPKM 10.8) and 16 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See D630045J12Rik in Genome Data Viewer
    Location:
    6 B1; 6 17.68 cM
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (38100109..38231074, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (38123174..38254139, complement)

    Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene ATPase, H+ transporting, lysosomal V0 subunit A4 Neighboring gene transmembrane protein 213 Neighboring gene predicted gene, 23231 Neighboring gene predicted gene, 52858 Neighboring gene STARR-positive B cell enhancer mm9_chr6:38110166-38110466 Neighboring gene STARR-seq mESC enhancer starr_15615 Neighboring gene zinc finger CCCH-type, antiviral 1-like Neighboring gene predicted gene 7504

    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 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. Homozygous variants in KIAA1549, encoding a ciliary protein, are associated with autosomal recessive retinitis pigmentosa. de Bruijn SE, et al. J Med Genet, 2018 Oct. PMID 30120214
    2. A neurogenomics approach to gene expression analysis in the developing brain. Jensen P, et al. Brain Res Mol Brain Res, 2004 Dec 20. PMID 15582152
    3. Ex vivo Quantitative Proteomic Analysis of Serotonin Transporter Interactome: Network Impact of the SERT Ala56 Coding Variant. Quinlan MA, et al. Front Mol Neurosci, 2020. PMID 32581705, Free PMC Article
    4. Prediction of the coding sequences of mouse homologues of KIAA gene: III. the complete nucleotide sequences of 500 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. Okazaki N, et al. DNA Res, 2003 Aug 31. PMID 14621295
    5. KCTD13-mediated ubiquitination and degradation of GluN1 regulates excitatory synaptic transmission and seizure susceptibility. Gu J, et al. Cell Death Differ, 2023 Jul. PMID 37142655, 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)
    • Endonuclease-mediated (2) 
    • Targeted (3) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    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
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in photoreceptor connecting cilium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    UPF0606 protein KIAA1549

    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_194061.3 → NP_918950.2  UPF0606 protein KIAA1549 precursor

      See identical proteins and their annotated locations for NP_918950.2

      Status: VALIDATED

      Source sequence(s)
      AC125530, AC157667
      Consensus CDS
      CCDS51749.1
      UniProtKB/Swiss-Prot
      Q68FD9, Q6ZPN1
      UniProtKB/TrEMBL
      D3YTS3
      Related
      ENSMUSP00000130121.2, ENSMUST00000169256.5
      Conserved Domains (2) summary
      pfam05904
      Location:508 → 664
      DUF863; Plant protein of unknown function (DUF863)
      pfam12877
      Location:1026 → 1691
      DUF3827; Domain of unknown function (DUF3827)

    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_000072.7 Reference GRCm39 C57BL/6J

      Range
      38100109..38231074 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q68FD9.3 GenPept UniProtKB/Swiss-Prot:Q68FD9

    Gene LinkOut

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

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