CHM (CHM Rab escort protein)

2003-05-01  

Identity

HGNC
CHM
LOCATION
Xq21.2
LOCUSID
1121
ALIAS
DXS540,GGTA,HSD-32,REP-1,TCD
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 1121
MIM: 300390
HGNC: 1940
Ensembl: ENSG00000188419

Variants:

dbSNP: 1121
ClinVar: 1121
TCGA: ENSG00000188419
COSMIC: CHM

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000188419ENST00000357749P24386
ENSG00000188419ENST00000615443P24386

Expression (GTEx)

0
5
10
15
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Gene ExpressionREACTOMER-HSA-74160
Generic Transcription PathwayREACTOMER-HSA-212436
Transcriptional Regulation by TP53REACTOMER-HSA-3700989
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
TP53 Regulates Transcription of Cell Death GenesREACTOMER-HSA-5633008
TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertainREACTOMER-HSA-6803205
RAB GEFs exchange GTP for GDP on RABsREACTOMER-HSA-8876198
RAB geranylgeranylationREACTOMER-HSA-8873719

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
379894232024Loss of REP1 impacts choroidal melanogenesis and vasculogenesis in choroideremia.0
379894232024Loss of REP1 impacts choroidal melanogenesis and vasculogenesis in choroideremia.0
364136032023Evaluation of CRISPR/Cas9 exon-skipping vector for choroideremia using human induced pluripotent stem cell-derived RPE.1
364136032023Evaluation of CRISPR/Cas9 exon-skipping vector for choroideremia using human induced pluripotent stem cell-derived RPE.1
335383692021CHM mutation spectrum and disease: An update at the time of human therapeutic trials.6
337556012021REP1 deficiency causes systemic dysfunction of lipid metabolism and oxidative stress in choroideremia.7
342827302021Whole-exome sequencing identified a novel mutation in CHM of a Chinese family.0
344402852021Molecular Characterization of Choroideremia-Associated Deletions Reveals an Unexpected Regulation of CHM Gene Transcription.3
335383692021CHM mutation spectrum and disease: An update at the time of human therapeutic trials.6
337556012021REP1 deficiency causes systemic dysfunction of lipid metabolism and oxidative stress in choroideremia.7
342827302021Whole-exome sequencing identified a novel mutation in CHM of a Chinese family.0
344402852021Molecular Characterization of Choroideremia-Associated Deletions Reveals an Unexpected Regulation of CHM Gene Transcription.3
303085602020CHANGES IN RETINAL SENSITIVITY AFTER GENE THERAPY IN CHOROIDEREMIA.26
319224962020CLINICAL CHARACTERISTICS AND MOLECULAR GENETIC ANALYSIS OF A COHORT OF CHINESE PATIENTS WITH CHOROIDEREMIA.3
320974782020Synonymous Variant in the CHM Gene Causes Aberrant Splicing in Choroideremia.3

Citation

Dessen P

CHM (CHM Rab escort protein)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/40077/js/meetings/css/lib/bootstrap.min.css