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    1700001O22Rik RIKEN cDNA 1700001O22 gene [ Mus musculus (house mouse) ]

    Gene ID: 73598, updated on 30-Apr-2024

    Summary

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    Official Symbol
    1700001O22Rikprovided by MGI
    Official Full Name
    RIKEN cDNA 1700001O22 geneprovided by MGI
    Primary source
    MGI:MGI:1923631
    See related
    Ensembl:ENSMUSG00000044320 AllianceGenome:MGI:1923631
    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
    1700113K14Rik; 4930549G18Rik
    Summary
    Orthologous to human C9orf50 (chromosome 9 open reading frame 50). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in testis adult (RPKM 131.9) and ovary adult (RPKM 3.6) See more
    Orthologs
    human all
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    Genomic context

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    See 1700001O22Rik in Genome Data Viewer
    Location:
    2 B; 2 21.74 cM
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (30685575..30695101, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (30795563..30803729, complement)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene predicted gene, 39783 Neighboring gene STARR-seq mESC enhancer starr_04120 Neighboring gene predicted gene, 39784 Neighboring gene STARR-positive B cell enhancer ABC_E7806 Neighboring gene predicted gene, 54110 Neighboring gene N-terminal Xaa-Pro-Lys N-methyltransferase 1 Neighboring gene STARR-positive B cell enhancer ABC_E10091 Neighboring gene ankyrin repeat and SOCS box-containing 6

    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. CRISPR/Cas9-mediated genome editing reveals 30 testis-enriched genes dispensable for male fertility in mice†. Lu Y, et al. Biol Reprod, 2019 Aug 1. PMID 31201419, Free PMC Article
    2. In vivo and in vitro investigations of heterozygous nebulin knock-out mice disclose a mild skeletal muscle phenotype. Gineste C, et al. Neuromuscul Disord, 2013 Apr. PMID 23375831
    3. BGEM: an in situ hybridization database of gene expression in the embryonic and adult mouse nervous system. Magdaleno S, et al. PLoS Biol, 2006 Apr. PMID 16602821, Free PMC Article
    4. Normalization and subtraction: two approaches to facilitate gene discovery. Bonaldo MF, et al. Genome Res, 1996 Sep. PMID 8889548
    5. A high-resolution anatomical atlas of the transcriptome in the mouse embryo. Diez-Roux G, et al. PLoS Biol, 2011 Jan 18. PMID 21267068, Free PMC Article

    See all (13) 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)

    General gene information

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    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 C9orf50 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_198000.3 → NP_932117.2  uncharacterized protein C9orf50 homolog

      See identical proteins and their annotated locations for NP_932117.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes a 375 aa protein.
      Source sequence(s)
      AL844532
      Consensus CDS
      CCDS15885.1
      UniProtKB/TrEMBL
      A2APZ1, Q8R5C3
      Related
      ENSMUSP00000058055.9, ENSMUST00000050003.9
      Conserved Domains (1) summary
      pfam15737
      Location:188 → 245
      DUF4685; Domain of unknown function (DUF4685)

    RNA

    1. NR_028486.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has an alternate 5' exon and an additional segment in the 3' region, as compared to variant 1. This variant is represented as non-coding because it lacks an in-frame ORF, compared to variant 1.
      Source sequence(s)
      AK005618, AL844532
      Related
      ENSMUST00000129484.8

    2. NR_028487.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) has an alternate 5' exon, compared to variant 1. This transcript is represented as non-coding because it lacks an in-frame ORF, compared to variant 1.
      Source sequence(s)
      AK076928, AL844532
      Related
      ENSMUST00000136883.8

    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
      30685575..30695101 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036162617.1 → XP_036018510.1  uncharacterized protein C9orf50 homolog isoform X8

      Conserved Domains (1) summary
      pfam15737
      Location:11 → 118
      DUF4685; Domain of unknown function (DUF4685)

    2. XM_030252120.2 → XP_030107980.1  uncharacterized protein C9orf50 homolog isoform X10

      Conserved Domains (1) summary
      pfam15737
      Location:73 → 118
      DUF4685; Domain of unknown function (DUF4685)

    3. XM_011239200.3 → XP_011237502.1  uncharacterized protein C9orf50 homolog isoform X8

      Conserved Domains (1) summary
      pfam15737
      Location:11 → 118
      DUF4685; Domain of unknown function (DUF4685)

    4. XM_030252119.2 → XP_030107979.1  uncharacterized protein C9orf50 homolog isoform X9

      Conserved Domains (1) summary
      pfam15737
      Location:73 → 118
      DUF4685; Domain of unknown function (DUF4685)

    5. XM_011239198.3 → XP_011237500.1  uncharacterized protein C9orf50 homolog isoform X6

      Conserved Domains (1) summary
      pfam15737
      Location:162 → 259
      DUF4685; Domain of unknown function (DUF4685)

    6. XM_011239199.3 → XP_011237501.1  uncharacterized protein C9orf50 homolog isoform X7

      Conserved Domains (1) summary
      pfam15737
      Location:162 → 259
      DUF4685; Domain of unknown function (DUF4685)

    7. XM_011239197.4 → XP_011237499.1  uncharacterized protein C9orf50 homolog isoform X4

      UniProtKB/TrEMBL
      Q8R5C3
      Conserved Domains (1) summary
      pfam15737
      Location:162 → 261
      DUF4685; Domain of unknown function (DUF4685)

    8. XM_006498376.4 → XP_006498439.1  uncharacterized protein C9orf50 homolog isoform X5

      UniProtKB/TrEMBL
      Q8R5C3
      Conserved Domains (1) summary
      pfam15737
      Location:188 → 245
      DUF4685; Domain of unknown function (DUF4685)

    9. XM_011239195.4 → XP_011237497.1  uncharacterized protein C9orf50 homolog isoform X1

      UniProtKB/TrEMBL
      Q8R5C3
      Conserved Domains (1) summary
      pfam15737
      Location:162 → 261
      DUF4685; Domain of unknown function (DUF4685)

    10. XM_006498375.4 → XP_006498438.1  uncharacterized protein C9orf50 homolog isoform X3

      UniProtKB/TrEMBL
      Q8R5C3
      Conserved Domains (1) summary
      pfam15737
      Location:188 → 245
      DUF4685; Domain of unknown function (DUF4685)

    11. XM_011239196.4 → XP_011237498.1  uncharacterized protein C9orf50 homolog isoform X2

      UniProtKB/TrEMBL
      Q8R5C3
      Conserved Domains (1) summary
      pfam15737
      Location:162 → 261
      DUF4685; Domain of unknown function (DUF4685)

    RNA

    1. XR_004940746.1 RNA Sequence

    2. XR_004940747.1 RNA Sequence

    3. XR_866021.3 RNA Sequence

    4. XR_004940744.1 RNA Sequence

    5. XR_004940745.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version

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