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

Gene ID: 94254, updated on 21-Apr-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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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)
  • Spontaneous (1)  1 citation
  • Targeted (1) 
  • Endonuclease-mediated (2) 

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

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