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    Chm CHM Rab escort protein [ Mus musculus (house mouse) ]

    Gene ID: 12662, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Chmprovided by MGI
    Official Full Name
    CHM Rab escort proteinprovided by MGI
    Primary source
    MGI:MGI:892979
    See related
    Ensembl:ENSMUSG00000025531 AllianceGenome:MGI:892979
    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
    Rep-1
    Summary
    Predicted to enable enzyme-substrate adaptor activity and small GTPase binding activity. Acts upstream of or within blood vessel development. Predicted to be part of Rab-protein geranylgeranyltransferase complex. Predicted to be active in cytosol and nucleus. Is expressed in urethra. Used to study choroideremia. Human ortholog(s) of this gene implicated in choroideremia. Orthologous to human CHM (CHM Rab escort protein). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in frontal lobe adult (RPKM 3.1), cerebellum adult (RPKM 2.6) and 24 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Chm in Genome Data Viewer
    Location:
    X E1; X 48.94 cM
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (111950289..112095236, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (113040592..113185539, complement)

    Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_47782 Neighboring gene lactate dehydrogenase A pseudogene Neighboring gene predicted gene 14936 Neighboring gene microRNA 361 Neighboring gene STARR-seq mESC enhancer starr_47784 Neighboring gene STARR-seq mESC enhancer starr_47785 Neighboring gene STARR-seq mESC enhancer starr_47786 Neighboring gene Ras-GTPase-activating protein SH3-domain binding protein 1 pseudogene Neighboring gene dachshund family transcription factor 2 Neighboring gene predicted gene, 24831

    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 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. Chronically shortened rod outer segments accompany photoreceptor cell death in Choroideremia. Meschede IP, et al. PLoS One, 2020. PMID 33201897, Free PMC Article
    2. Independent degeneration of photoreceptors and retinal pigment epithelium in conditional knockout mouse models of choroideremia. Tolmachova T, et al. J Clin Invest, 2006 Feb. PMID 16410831, Free PMC Article
    3. Remodeling of the Basal Labyrinth of Retinal Pigment Epithelial Cells With Osmotic Challenge, Age, and Disease. Hayes MJ, et al. Invest Ophthalmol Vis Sci, 2019 Jun 3. PMID 31194861, Free PMC Article
    4. Retinal pigment epithelium defects accelerate photoreceptor degeneration in cell type-specific knockout mouse models of choroideremia. Tolmachova T, et al. Invest Ophthalmol Vis Sci, 2010 Oct. PMID 20445111, Free PMC Article
    5. cDNA cloning of component A of Rab geranylgeranyl transferase and demonstration of its role as a Rab escort protein. Andres DA, et al. Cell, 1993 Jun 18. PMID 8513495

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Loss of the Chm/Rep1 gene causes premature accumulation of features of aging in the retinal pigment epithelium.
      Title: Conditional ablation of the choroideremia gene causes age-related changes in mouse retinal pigment epithelium.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Targeted (5)  1 citation

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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 enzyme-substrate adaptor activity ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    enables protein-containing complex binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables small GTPase binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables small GTPase binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within blood vessel development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in intracellular protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein geranylgeranylation ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    involved_in protein geranylgeranylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein targeting to membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein targeting to membrane ISS
    Inferred from Sequence or Structural Similarity
    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
    		 PubMed 
    part_of Rab-protein geranylgeranyltransferase complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    rab proteins geranylgeranyltransferase component A 1
    Names
    choroideraemia protein homolog
    choroideremia protein homolog
    choroidermia (RAB escort protein 1)
    rab escort protein 1

    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_001370788.1 → NP_001357717.1  rab proteins geranylgeranyltransferase component A 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL669958
      UniProtKB/Swiss-Prot
      Q80UV8, Q9QXG2
      Conserved Domains (1) summary
      cl21454
      Location:233 → 541
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    2. NM_001370789.1 → NP_001357718.1  rab proteins geranylgeranyltransferase component A 1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL669958
      Consensus CDS
      CCDS90746.1
      UniProtKB/Swiss-Prot
      Q80UV8, Q9QXG2
      UniProtKB/TrEMBL
      Q3UR39
      Related
      ENSMUSP00000109015.3, ENSMUST00000113388.3
      Conserved Domains (1) summary
      cl21454
      Location:6 → 503
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    3. NM_001370790.1 → NP_001357719.1  rab proteins geranylgeranyltransferase component A 1 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AL669958
      UniProtKB/Swiss-Prot
      Q80UV8, Q9QXG2
      Conserved Domains (1) summary
      cl21454
      Location:6 → 499
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    4. NM_001409667.1 → NP_001396596.1  rab proteins geranylgeranyltransferase component A 1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AL669958

    5. NM_001409668.1 → NP_001396597.1  rab proteins geranylgeranyltransferase component A 1 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AL669958

    6. NM_001409669.1 → NP_001396598.1  rab proteins geranylgeranyltransferase component A 1 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AL669958

    7. NM_001409670.1 → NP_001396599.1  rab proteins geranylgeranyltransferase component A 1 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AL669958

    8. NM_001409675.1 → NP_001396604.1  rab proteins geranylgeranyltransferase component A 1 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AL669958

    9. NM_001409676.1 → NP_001396605.1  rab proteins geranylgeranyltransferase component A 1 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AL669958

    10. NM_001409677.1 → NP_001396606.1  rab proteins geranylgeranyltransferase component A 1 isoform 9

      Status: VALIDATED

      Source sequence(s)
      AL669958

    11. NM_001409678.1 → NP_001396607.1  rab proteins geranylgeranyltransferase component A 1 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AL669958

    12. NM_018818.2 → NP_061288.2  rab proteins geranylgeranyltransferase component A 1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AK021238, AK035956, AK141830, AL669958
      Consensus CDS
      CCDS41107.1
      UniProtKB/Swiss-Prot
      Q80UV8, Q9QXG2
      UniProtKB/TrEMBL
      A2AD03
      Related
      ENSMUSP00000026607.9, ENSMUST00000026607.15
      Conserved Domains (2) summary
      cl21454
      Location:234 → 542
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
      cl27287
      Location:8 → 46
      GLF; UDP-galactopyranose mutase

    RNA

    1. NR_176881.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL669958

    2. NR_176882.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL669958

    3. NR_176883.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL669958

    4. NR_176884.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL669958

    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_000086.8 Reference GRCm39 C57BL/6J

      Range
      111950289..112095236 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006528381.4 → XP_006528444.1  rab proteins geranylgeranyltransferase component A 1 isoform X1

      UniProtKB/Swiss-Prot
      Q80UV8, Q9QXG2
      Conserved Domains (1) summary
      cl21454
      Location:6 → 476
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    2. XM_006528382.5 → XP_006528445.1  rab proteins geranylgeranyltransferase component A 1 isoform X2

      See identical proteins and their annotated locations for XP_006528445.1

      UniProtKB/Swiss-Prot
      Q80UV8, Q9QXG2
      Conserved Domains (1) summary
      cl21454
      Location:161 → 469
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    RNA

    1. XR_004940324.1 RNA Sequence

    2. XR_001782732.2 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9QXG2.1 GenPept UniProtKB/Swiss-Prot:Q9QXG2

    Gene LinkOut

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

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