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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

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