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

Gene ID: 12663, updated on 27-Nov-2024

Summary

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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, Nov 2024]
Orthologs
human all
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Genomic context

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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

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. An autosomal homologue of the choroideremia gene colocalizes with the Usher syndrome type II locus on the distal part of chromosome 1q. Cremers FP, et al. Hum Mol Genet, 1992 May. PMID 1301160
  2. Mouse choroideremia gene mutation causes photoreceptor cell degeneration and is not transmitted through the female germline. van den Hurk JA, et al. Hum Mol Genet, 1997 Jun. PMID 9175730
  3. Localization of the Rab escort protein-2 (REP2) and inositol 1,4,5-trisphosphate 3-kinase (ITPKB) genes to mouse chromosome 1 by in situ hybridization and precision of the syntenic regions between mouse and human 1q42-q44. Barrat FJ, et al. Genomics, 1997 Jul 1. PMID 9226383
  4. Genetic mapping of the choroideremia-like, rab escort protein-2 gene on mouse chromosome 1. Barbosa MD, et al. Mamm Genome, 1995 Jul. PMID 7579897
  5. Different structural organization of the encephalopsin gene in man and mouse. Kasper G, et al. Gene, 2002 Jul 24. PMID 12242008

See all (17) citations in PubMed

GeneRIFs: Gene References Into Functions

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 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
involved_in intracellular protein transport IEA
Inferred from Electronic Annotation
more info
  
involved_in protein geranylgeranylation ISO
Inferred from Sequence Orthology
more info
  
involved_in protein geranylgeranylation 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
  
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
  
located_in cytosol IEA
Inferred from Electronic Annotation
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

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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_021350.3 → NP_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:6 → 528
    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)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9QZD5.2 GenPept UniProtKB/Swiss-Prot:Q9QZD5

Gene LinkOut

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

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