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    Chml choroideremia-like [ Mus musculus (house mouse) ]

    Gene ID: 12663, updated on 11-Apr-2024

    Summary

    Official Symbol
    Chmlprovided by MGI
    Official Full Name
    choroideremia-likeprovided by MGI
    Primary source
    MGI:MGI:101913
    See related
    Ensembl:ENSMUSG00000078185 AllianceGenome:MGI:101913
    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
    Rep2; REP-2; E030003F13Rik
    Summary
    Predicted to enable small GTPase binding activity. Predicted to be involved in protein geranylgeranylation and vesicle-mediated transport. Predicted to be located in nucleoplasm. Predicted to be part of Rab-protein geranylgeranyltransferase complex. Predicted to be active in cytosol and nucleus. Is expressed in nervous system. Human ortholog(s) of this gene implicated in asthma. Orthologous to human CHML (CHM like Rab escort protein). [provided by Alliance of Genome Resources, Apr 2022]
    Orthologs
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    Genomic context

    See Chml in Genome Data Viewer
    Location:
    1 H3; 1 81.7 cM
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (175509803..175520198, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (175682237..175688353, complement)

    Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E502 Neighboring gene STARR-seq mESC enhancer starr_03103 Neighboring gene fumarate hydratase 1 Neighboring gene STARR-positive B cell enhancer ABC_E5860 Neighboring gene kynurenine 3-monooxygenase Neighboring gene STARR-positive B cell enhancer ABC_E7780 Neighboring gene opsin 3 Neighboring gene STARR-positive B cell enhancer ABC_E409 Neighboring gene predicted gene, 39707 Neighboring gene WD repeat domain 64 Neighboring gene predicted gene, 25560

    Genomic regions, transcripts, and products

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables GDP-dissociation inhibitor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables GTPase activator activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables small GTPase binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in intracellular protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein geranylgeranylation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein geranylgeranylation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in small GTPase-mediated signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in vesicle-mediated transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    part_of Rab-protein geranylgeranyltransferase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of Rab-protein geranylgeranyltransferase complex ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    rab proteins geranylgeranyltransferase component A 2
    Names
    choroideraemia-like protein
    choroideremia-like protein
    rab escort protein-2

    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_021350.3NP_067325.2  rab proteins geranylgeranyltransferase component A 2

      See identical proteins and their annotated locations for NP_067325.2

      Status: VALIDATED

      Source sequence(s)
      AC124366
      Consensus CDS
      CCDS35796.1
      UniProtKB/Swiss-Prot
      Q0VF88, Q8CH16, Q9QZD5
      UniProtKB/TrEMBL
      A0A0R4J1A1
      Related
      ENSMUSP00000100600.2, ENSMUST00000104984.4
      Conserved Domains (1) summary
      cl21454
      Location:6528
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    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_000067.7 Reference GRCm39 C57BL/6J

      Range
      175509803..175520198 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)