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

    Gene ID: 234797, updated on 19-Feb-2019

    Summary

    Official Symbol
    6430548M08Rikprovided by MGI
    Official Full Name
    RIKEN cDNA 6430548M08 geneprovided by MGI
    Primary source
    MGI:MGI:2443793
    See related
    Ensembl:ENSMUSG00000031824
    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
    AW049007; Kiaa0513; mKIAA0513
    Expression
    Broad expression in frontal lobe adult (RPKM 39.1), adrenal adult (RPKM 37.8) and 21 other tissues See more
    Orthologs

    Genomic context

    See 6430548M08Rik in Genome Data Viewer
    Location:
    8; 8 E1
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 8 NC_000074.6 (120114152..120165307)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 8 NC_000074.5 (122638052..122689207)

    Chromosome 8 - NC_000074.6Genomic Context describing neighboring genes Neighboring gene cysteine-rich secretory protein LCCL domain containing 2 Neighboring gene zinc finger, DHHC domain containing 7 Neighboring gene family with sequence similarity 92, member B Neighboring gene RIKEN cDNA A330074K22 gene

    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

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    molecular_function ND
    No biological Data available
    more info
     
    Process Evidence Code Pubs
    biological_process ND
    No biological Data available
    more info
     
    Component Evidence Code Pubs
    cellular_component ND
    No biological Data available
    more info
     

    General protein information

    Preferred Names
    uncharacterized protein KIAA0513

    NCBI Reference Sequences (RefSeq)

    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_001163760.1NP_001157232.1  uncharacterized protein KIAA0513 isoform a

      See identical proteins and their annotated locations for NP_001157232.1

      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
      Q8R0A7
      Related
      ENSMUSP00000104578.1, ENSMUST00000108950.1
      Conserved Domains (1) summary
      pfam12335
      Location:286358
      SBF2; Myotubularin protein
    2. NM_001163761.1NP_001157233.1  uncharacterized protein KIAA0513 isoform b

      See identical proteins and their annotated locations for NP_001157233.1

      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/Swiss-Prot
      Q8R0A7
      UniProtKB/TrEMBL
      Q3TA40
      Related
      ENSMUSP00000104579.1, ENSMUST00000108951.7
    3. NM_001163762.1NP_001157234.1  uncharacterized protein KIAA0513 isoform c

      See identical proteins and their annotated locations for NP_001157234.1

      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
      ENSMUSP00000104576.1, ENSMUST00000108948.7
    4. NM_172286.4NP_758490.3  uncharacterized protein KIAA0513 isoform a

      See identical proteins and their annotated locations for NP_758490.3

      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
      Q8R0A7
      Related
      ENSMUSP00000034281.6, ENSMUST00000034281.12
      Conserved Domains (1) summary
      pfam12335
      Location:286358
      SBF2; Myotubularin protein

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000074.6 Reference GRCm38.p4 C57BL/6J

      Range
      120114152..120165307
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006530934.2XP_006530997.1  uncharacterized protein KIAA0513 isoform X1

      See identical proteins and their annotated locations for XP_006530997.1

      UniProtKB/Swiss-Prot
      Q8R0A7
      Conserved Domains (1) summary
      pfam12335
      Location:286358
      SBF2; Myotubularin protein
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