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    6430548M08Rik RIKEN cDNA 6430548M08 gene [ Mus musculus (house mouse) ]

    Gene ID: 234797, updated on 9-Dec-2024

    Summary

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    Official Symbol
    6430548M08Rikprovided by MGI
    Official Full Name
    RIKEN cDNA 6430548M08 geneprovided by MGI
    Primary source
    MGI:MGI:2443793
    See related
    Ensembl:ENSMUSG00000031824 AllianceGenome:MGI:2443793
    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
    Kiaa0513; mKIAA0513
    Summary
    Is expressed in forebrain. Orthologous to human KIAA0513 (KIAA0513). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in frontal lobe adult (RPKM 39.1), adrenal adult (RPKM 37.8) and 21 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See 6430548M08Rik in Genome Data Viewer
    Location:
    8 E1; 8 68.99 cM
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (120840891..120892046)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (120114152..120165307)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene zinc finger, DHHC domain containing 7 Neighboring gene RIKEN cDNA A130014A01 gene Neighboring gene STARR-positive B cell enhancer ABC_E3811 Neighboring gene STARR-positive B cell enhancer mm9_chr8:122701278-122701579 Neighboring gene CBY1 interacting BAR domain containing 2 Neighboring gene STARR-positive B cell enhancer ABC_E5046 Neighboring gene RIKEN cDNA A330074K22 gene

    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. Identification of KIAA0513 and Other Hub Genes Associated With Alzheimer Disease Using Weighted Gene Coexpression Network Analysis. Zhu M, et al. Front Genet, 2020. PMID 33005179, Free PMC Article
    2. A genomic atlas of mouse hypothalamic development. Shimogori T, et al. Nat Neurosci, 2010 Jun. PMID 20436479, Free PMC Article
    3. Prediction of the coding sequences of mouse homologues of KIAA gene: II. The complete nucleotide sequences of 400 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 Feb 28. PMID 12693553
    4. Neuron-specific protein network mapping of autism risk genes identifies shared biological mechanisms and disease-relevant pathologies. Murtaza N, et al. Cell Rep, 2022 Nov 22. PMID 36417873
    5. BioID screening of biotinylation sites using the avidin-like protein Tamavidin 2-REV identifies global interactors of stimulator of interferon genes (STING). Motani K, et al. J Biol Chem, 2020 Aug 7. PMID 32554809, Free PMC Article

    See all (20) 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 (1) 

    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
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  

    General protein information

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    Preferred Names
    uncharacterized protein KIAA0513

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001163760.1 → NP_001157232.1  uncharacterized protein KIAA0513 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (a).
      Source sequence(s)
      AK133157, BC027126, CJ293122
      Consensus CDS
      CCDS22716.1
      UniProtKB/Swiss-Prot
      Q80TY8, Q8BQV3, Q8C8N9, Q8CCN0, Q8R0A7
      Related
      ENSMUSP00000104578.2, ENSMUST00000108950.2
      Conserved Domains (1) summary
      pfam12335
      Location:286 → 358
      SBF2; Myotubularin protein

    2. NM_001163761.1 → NP_001157233.1  uncharacterized protein KIAA0513 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform b), compared to isoform a.
      Source sequence(s)
      AK032447, AK044754, AK046401, AK133157, CJ293122
      Consensus CDS
      CCDS52685.1
      UniProtKB/TrEMBL
      Q3TA40
      Related
      ENSMUSP00000104579.2, ENSMUST00000108951.8

    3. NM_001163762.1 → NP_001157234.1  uncharacterized protein KIAA0513 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (c) is shorter than isoform a.
      Source sequence(s)
      AK051096
      Consensus CDS
      CCDS52686.1
      UniProtKB/TrEMBL
      Q8BQB5
      Related
      ENSMUSP00000104576.2, ENSMUST00000108948.8

    4. NM_172286.4 → NP_758490.3  uncharacterized protein KIAA0513 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 2 encode the same isoform (a).
      Source sequence(s)
      AK032447, AK044754, AK046401, AK133157, CJ293122
      Consensus CDS
      CCDS22716.1
      UniProtKB/Swiss-Prot
      Q80TY8, Q8BQV3, Q8C8N9, Q8CCN0, Q8R0A7
      Related
      ENSMUSP00000034281.7, ENSMUST00000034281.13
      Conserved Domains (1) summary
      pfam12335
      Location:286 → 358
      SBF2; Myotubularin protein

    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_000074.7 Reference GRCm39 C57BL/6J

      Range
      120840891..120892046
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006530934.4 → XP_006530997.1  uncharacterized protein KIAA0513 isoform X1

      UniProtKB/Swiss-Prot
      Q80TY8, Q8BQV3, Q8C8N9, Q8CCN0, Q8R0A7
      Conserved Domains (1) summary
      pfam12335
      Location:286 → 358
      SBF2; Myotubularin protein
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8R0A7.1 GenPept UniProtKB/Swiss-Prot:Q8R0A7

    Gene LinkOut

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

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