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    Rcc1l reculator of chromosome condensation 1 like [ Mus musculus (house mouse) ]

    Gene ID: 94254, updated on 12-May-2024

    Summary

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    Official Symbol
    Rcc1lprovided by MGI
    Official Full Name
    reculator of chromosome condensation 1 likeprovided by MGI
    Primary source
    MGI:MGI:2137600
    See related
    Ensembl:ENSMUSG00000061979 AllianceGenome:MGI:2137600
    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
    Wbscr16; 5730496C04Rik
    Summary
    Predicted to enable guanyl-nucleotide exchange factor activity and rRNA binding activity. Involved in mitochondrial membrane fusion. Located in mitochondrial inner membrane. Human ortholog(s) of this gene implicated in Williams-Beuren syndrome. Orthologous to human RCC1L (RCC1 like). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in adrenal adult (RPKM 15.0), ovary adult (RPKM 12.8) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Rcc1l in Genome Data Viewer
    Location:
    5 G2; 5 74.42 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (134176897..134207963, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (134148058..134179124, complement)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene predicted gene 15627 Neighboring gene cytosolic arginine sensor for mTORC1 subunit 2 Neighboring gene STARR-positive B cell enhancer ABC_E3627 Neighboring gene STARR-positive B cell enhancer ABC_E105 Neighboring gene STARR-positive B cell enhancer ABC_E4791 Neighboring gene GTF2I repeat domain containing 2 Neighboring gene predicted gene, 57734 Neighboring gene neutrophil cytosolic factor 1

    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. WBSCR16 Is a Guanine Nucleotide Exchange Factor Important for Mitochondrial Fusion. Huang G, et al. Cell Rep, 2017 Jul 25. PMID 28746876, Free PMC Article
    2. Identification of additional transcripts in the Williams-Beuren syndrome critical region. Merla G, et al. Hum Genet, 2002 May. PMID 12073013
    3. Fine-scale comparative mapping of the human 7q11.23 region and the orthologous region on mouse chromosome 5G: the low-copy repeats that flank the Williams-Beuren syndrome deletion arose at breakpoint sites of an evolutionary inversion(s). Valero MC, et al. Genomics, 2000 Oct 1. PMID 11013070
    4. Generation and comparative analysis of approximately 3.3 Mb of mouse genomic sequence orthologous to the region of human chromosome 7q11.23 implicated in Williams syndrome. DeSilva U, et al. Genome Res, 2002 Jan. PMID 11779826, Free PMC Article
    5. Characterization of an exchangeable gene trap using pU-17 carrying a stop codon-beta geo cassette. Taniwaki T, et al. Dev Growth Differ, 2005 Apr. PMID 15840001

    See all (22) 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) 
    • Spontaneous (1)  1 citation
    • Targeted (1) 

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables guanyl-nucleotide exchange factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables guanyl-nucleotide exchange factor activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables guanyl-nucleotide exchange factor activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables rRNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables rRNA binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in mitochondrial fusion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitochondrial fusion ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of mitochondrial translation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of mitochondrial translation ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in mitochondrial inner membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrion HDA PubMed 

    General protein information

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    Preferred Names
    RCC1-like G exchanging factor-like protein
    Names
    RCC1 like
    Williams-Beuren syndrome chromosome region 16 homolog
    williams-Beuren syndrome chromosomal region 16 protein 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_033572.2 → NP_291050.1  RCC1-like G exchanging factor-like protein

      See identical proteins and their annotated locations for NP_291050.1

      Status: VALIDATED

      Source sequence(s)
      AK017733, BC055335, BY725117
      Consensus CDS
      CCDS19718.1
      UniProtKB/Swiss-Prot
      Q9CYF5
      UniProtKB/TrEMBL
      Q548B0
      Related
      ENSMUSP00000075581.3, ENSMUST00000076228.3
      Conserved Domains (2) summary
      pfam00415
      Location:298 → 348
      RCC1; Regulator of chromosome condensation (RCC1) repeat
      pfam13540
      Location:229 → 258
      RCC1_2; Regulator of chromosome condensation (RCC1) repeat

    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_000071.7 Reference GRCm39 C57BL/6J

      Range
      134176897..134207963 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006504538.4 → XP_006504601.1  RCC1-like G exchanging factor-like protein isoform X2

      Conserved Domains (1) summary
      COG5184
      Location:57 → 312
      ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]

    2. XM_006504537.4 → XP_006504600.1  RCC1-like G exchanging factor-like protein isoform X1

      Conserved Domains (1) summary
      COG5184
      Location:57 → 374
      ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]

    3. XM_006504539.2 → XP_006504602.1  RCC1-like G exchanging factor-like protein isoform X3

      See identical proteins and their annotated locations for XP_006504602.1

      Conserved Domains (3) summary
      COG5184
      Location:2 → 192
      ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
      pfam00415
      Location:215 → 258
      RCC1; Regulator of chromosome condensation (RCC1) repeat
      pfam13540
      Location:199 → 228
      RCC1_2; Regulator of chromosome condensation (RCC1) repeat

    4. XM_011240917.4 → XP_011239219.1  RCC1-like G exchanging factor-like protein isoform X3

      See identical proteins and their annotated locations for XP_011239219.1

      Conserved Domains (3) summary
      COG5184
      Location:2 → 192
      ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
      pfam00415
      Location:215 → 258
      RCC1; Regulator of chromosome condensation (RCC1) repeat
      pfam13540
      Location:199 → 228
      RCC1_2; Regulator of chromosome condensation (RCC1) repeat

    RNA

    1. XR_377117.4 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9CYF5.1 GenPept UniProtKB/Swiss-Prot:Q9CYF5

    Gene LinkOut

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