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Chm Gene Detail
Summary
  • Symbol
    Chm
  • Name
    CHM Rab escort protein
  • Synonyms
    Rep-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:892979
    NCBI Gene: 12662
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:111950290-112095214 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 48.94 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    740 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_892979
 protein coding gene ChrX:111950289-112095236 (-)
129S1/SvImJ MGP_129S1SvImJ_G0036036
 protein coding gene ChrX:109798548-109991991 (-)
A/J MGP_AJ_G0036016
 protein coding gene ChrX:109618983-109773423 (-)
AKR/J MGP_AKRJ_G0035935
 protein coding gene ChrX:113065798-113257650 (-)
BALB/cJ MGP_BALBcJ_G0036008
 protein coding gene ChrX:108247221-108397830 (-)
C3H/HeJ MGP_C3HHeJ_G0035713
 protein coding gene ChrX:110229887-110377481 (-)
C57BL/6NJ MGP_C57BL6NJ_G0036532
 protein coding gene ChrX:113025210-113211165 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0033359
 protein coding gene ChrX:106292064-106435965 (-)
CAST/EiJ MGP_CASTEiJ_G0035000
 protein coding gene ChrX:94116521-94255024 (-)
CBA/J MGP_CBAJ_G0035689
 protein coding gene ChrX:116553067-116726245 (-)
DBA/2J MGP_DBA2J_G0035842
 protein coding gene ChrX:108818031-108994337 (-)
FVB/NJ MGP_FVBNJ_G0035783
 protein coding gene ChrX:108217566-108408211 (-)
LP/J MGP_LPJ_G0035935
 protein coding gene ChrX:110685175-110878818 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0035813
 protein coding gene ChrX:121984619-122187430 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0036559
 protein coding gene ChrX:109346141-109528487 (-)
PWK/PhJ MGP_PWKPhJ_G0034694
 protein coding gene ChrX:91601284-91744792 (-)
SPRET/EiJ MGP_SPRETEiJ_G0034525
 protein coding gene ChrX:94952904-95099066 (-)
WSB/EiJ MGP_WSBEiJ_G0035137
 protein coding gene ChrX:108131467-108319987 (-)



Homology
more
  • Human Ortholog
    CHM, CHM Rab escort protein
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CHM, CHM Rab escort protein
  • Synonyms
    DXS540, GGTA, HSD-32, REP-1, TCD
  • Links
    NCBI Gene ID: 1121
    neXtProt AC: NX_P24386
    UniProt: P24386

  • Chr Location
    Xq21.2; chrX:85861180-86047561 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Chm mouse models; 1 with human CHM associations

Human Disease Mouse Models
      
IDs
 View 4 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    29 phenotypes from 5 alleles in 4 genetic backgrounds
    16 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
For one disruption of this gene, heterozygous female and hemizygous male null mice display embryonic lethality with abnormal extraembryonic tissue development. For other disruptions however, heterozygous mice do survive and display depigmentation and degeneration of the retina.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    24
  • GO References
    7
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    707
  • Tissues
    1
  • cDNA Data
    56
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000025531 Ensembl Gene Model | MGI Sequence Detail 144925 C57BL/6J ±  kb
    transcript ENSMUST00000026607 Ensembl | MGI Sequence Detail 4868 Not Applicable  
    polypeptide ENSMUSP00000026607 Ensembl | MGI Sequence Detail 662 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      5 Sequences
    • Protein Ontology
      PR:000005430 Rab proteins geranylgeranyltransferase component A 1
      (term hierarchy)
    • InterPro Domains
      IPR036188 FAD/NAD(P)-binding domain superfamily
      IPR018203 GDP dissociation inhibitor
      IPR001738 Rab protein geranylgeranyltransferase component A
    Molecular
    Reagents
    less
    • All nucleic 58
      Genomic 1
      cDNA 57

      Microarray probesets 5
    References
    more
    • Summaries
      All 40
      Developmental Gene Expression 2
      Diseases 2
      Gene Ontology 7
      Phenotypes 16
    • Earliest
      J:40673 van den Hurk JA, et al., Mouse choroideremia gene mutation causes photoreceptor cell degeneration and is not transmitted through the female germline. Hum Mol Genet. 1997 Jun;6(6):851-8
    • Latest
      J:343644 Sarkar H, et al., Loss of REP1 impacts choroidal melanogenesis and vasculogenesis in choroideremia. Biochim Biophys Acta Mol Basis Dis. 2023 Nov 20;1870(2):166963
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/09/2024
    MGI 6.23     		The Jackson Laboratory