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    Spidr scaffolding protein involved in DNA repair [ Mus musculus (house mouse) ]

    Gene ID: 224008, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Spidrprovided by MGI
    Official Full Name
    scaffolding protein involved in DNA repairprovided by MGI
    Primary source
    MGI:MGI:1924834
    See related
    Ensembl:ENSMUSG00000041974 AllianceGenome:MGI:1924834
    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
    Kiaa0146; 2310008H04Rik
    Summary
    Predicted to be involved in several processes, including cellular response to camptothecin; cellular response to hydroxyurea; and regulation of double-strand break repair. Predicted to be active in nuclear chromosome and nucleoplasm. Human ortholog(s) of this gene implicated in 46 XX gonadal dysgenesis. Orthologous to human SPIDR (scaffold protein involved in DNA repair). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in CNS E11.5 (RPKM 4.4), limb E14.5 (RPKM 3.5) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Spidr in Genome Data Viewer
    Location:
    16 A2; 16 10.09 cM
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 16 NC_000082.7 (15707088..15964715, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 16 NC_000082.6 (15889224..16146851, complement)

    Chromosome 16 - NC_000082.7Genomic Context describing neighboring genes Neighboring gene CapStarr-seq enhancer MGSCv37_chr16:15863142-15863251 Neighboring gene STARR-positive B cell enhancer ABC_E5527 Neighboring gene predicted gene, 41425 Neighboring gene mitotic spindle organizing protein 2 Neighboring gene STARR-seq mESC enhancer starr_40217 Neighboring gene 60S ribosomal protein L30-like Neighboring gene CCAAT/enhancer binding protein delta Neighboring gene STARR-seq mESC enhancer starr_40218 Neighboring gene STARR-positive B cell enhancer mm9_chr16:15984736-15985037 Neighboring gene predicted gene 10121 Neighboring gene STARR-seq mESC enhancer starr_40221 Neighboring gene STARR-seq mESC enhancer starr_40222 Neighboring gene folate receptor 1 (adult) pseudogene Neighboring gene STARR-positive B cell enhancer ABC_E9425 Neighboring gene STARR-seq mESC enhancer starr_40224 Neighboring gene ribosomal protein L29, pseudogene 4 Neighboring gene STARR-seq mESC enhancer starr_40225 Neighboring gene cell division cycle associated 7 pseudogene

    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. Distinct pathways of homologous recombination controlled by the SWS1-SWSAP1-SPIDR complex. Prakash R, et al. Nat Commun, 2021 Jul 12. PMID 34253720, Free PMC Article
    2. SPIDR is required for homologous recombination during mammalian meiosis. Huang T, et al. Nucleic Acids Res, 2023 May 8. PMID 36938872, Free PMC Article
    3. Mutagenesis of diploid mammalian genes by gene entrapment. Lin Q, et al. Nucleic Acids Res, 2006. PMID 17062627, Free PMC Article
    4. Prediction of the coding sequences of mouse homologues of KIAA gene: IV. 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, 2004 Jun 30. PMID 15368895
    5. Fancd2 in vivo interaction network reveals a non-canonical role in mitochondrial function. Zhang T, et al. Sci Rep, 2017 Apr 5. PMID 28378742, Free PMC Article

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Distinct pathways of homologous recombination controlled by the SWS1-SWSAP1-SPIDR complex.
      Title: Distinct pathways of homologous recombination controlled by the SWS1-SWSAP1-SPIDR complex.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (2) 

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC30630, MGC115787

    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 DNA damage response ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in DNA damage response ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in cellular response to camptothecin ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in cellular response to camptothecin ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in cellular response to hydroxyurea ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in cellular response to hydroxyurea ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in cellular response to ionizing radiation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in cellular response to ionizing radiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in double-strand break repair via homologous recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in double-strand break repair via homologous recombination ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in double-strand break repair via homologous recombination ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of double-strand break repair ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of double-strand break repair ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of protein-containing complex assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of protein-containing complex assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of double-strand break repair via homologous recombination ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of double-strand break repair via homologous recombination ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of establishment of protein localization to chromosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of establishment of protein localization to chromosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of establishment of protein localization to chromosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in nuclear chromosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nuclear chromosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nuclear chromosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    DNA repair-scaffolding protein
    Names
    scaffolding protein involved i DNA repair

    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_001355731.1 → NP_001342660.1  DNA repair-scaffolding protein isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC113329, AC154586
      UniProtKB/TrEMBL
      Q3TLL0
      Conserved Domains (2) summary
      pfam14950
      Location:1 → 58
      DUF4502; Domain of unknown function (DUF4502)
      pfam14951
      Location:208 → 588
      DUF4503; Domain of unknown function (DUF4503)

    2. NM_146068.4 → NP_666180.2  DNA repair-scaffolding protein isoform 1

      See identical proteins and their annotated locations for NP_666180.2

      Status: VALIDATED

      Source sequence(s)
      AK044836, AK146053, BC089026
      Consensus CDS
      CCDS27980.1
      UniProtKB/Swiss-Prot
      Q3TCD0, Q5U457, Q6A0B6, Q6IS60, Q811E1, Q8BGX7, Q8BWD6, Q8R305
      Related
      ENSMUSP00000038820.8, ENSMUST00000040248.9
      Conserved Domains (2) summary
      pfam14950
      Location:11 → 390
      DUF4502; Domain of unknown function (DUF4502)
      pfam14951
      Location:540 → 920
      DUF4503; Domain of unknown function (DUF4503)

    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_000082.7 Reference GRCm39 C57BL/6J

      Range
      15707088..15964715 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030249064.1 → XP_030104924.1  DNA repair-scaffolding protein isoform X2

      Conserved Domains (1) summary
      pfam14951
      Location:1 → 376
      DUF4503; Domain of unknown function (DUF4503)

    2. XM_017316946.3 → XP_017172435.1  DNA repair-scaffolding protein isoform X1

      UniProtKB/TrEMBL
      Q3TLL0
      Conserved Domains (2) summary
      pfam14950
      Location:1 → 81
      DUF4502; Domain of unknown function (DUF4502)
      pfam14951
      Location:231 → 611
      DUF4503; Domain of unknown function (DUF4503)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8BGX7.1 GenPept UniProtKB/Swiss-Prot:Q8BGX7

    Gene LinkOut

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

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