CHML (CHM like Rab escort protein)

2019-08-01  

Identity

HGNC
CHML
LOCATION
1q43
LOCUSID
1122
ALIAS
REP2

Other Information

Locus ID:

NCBI: 1122
MIM: 118825
HGNC: 1941
Ensembl: ENSG00000203668

Variants:

dbSNP: 1122
ClinVar: 1122
TCGA: ENSG00000203668
COSMIC: CHML

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000203668ENST00000366553P26374
ENSG00000203668ENST00000638018A0A1B0GUK6
ENSG00000203668ENST00000638121A0A1B0GVX9
ENSG00000203668ENST00000638160A0A1B0GVA4

Expression (GTEx)

0
5
10
15
20
25
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
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
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
351843802022CHML is an NRF2 target gene that regulates mTOR function.2
351843802022CHML is an NRF2 target gene that regulates mTOR function.2
346490532021CHML targeted by miR-199a-3p promotes non-small cell lung cancer cell growth via binding to Rab5A.3
346490532021CHML targeted by miR-199a-3p promotes non-small cell lung cancer cell growth via binding to Rab5A.3
311752902019CHML promotes liver cancer metastasis by facilitating Rab14 recycle.24
311752902019CHML promotes liver cancer metastasis by facilitating Rab14 recycle.24
196260402009Follow-up examination of linkage and association to chromosome 1q43 in multiple sclerosis.3
196260402009Follow-up examination of linkage and association to chromosome 1q43 in multiple sclerosis.3
183445582008Identification of a novel asthma susceptibility gene on chromosome 1qter and its functional evaluation.27
183445582008Identification of a novel asthma susceptibility gene on chromosome 1qter and its functional evaluation.27
183445582008Identification of a novel asthma susceptibility gene on chromosome 1qter and its functional evaluation.27
183445582008Identification of a novel asthma susceptibility gene on chromosome 1qter and its functional evaluation.27

Citation

Dessen P

CHML (CHM like Rab escort protein)

Atlas Genet Cytogenet Oncol Haematol. 2019-08-01

Online version: http://atlasgeneticsoncology.org/gene/58079/case-report-explorer/js/lib/popper.js