PLEKHM1 (pleckstrin homology and RUN domain containing M1)

2016-10-01  

Identity

HGNC
PLEKHM1
LOCATION
17q21.31
LOCUSID
9842
ALIAS
AP162,B2,OPTA3,OPTB6
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9842
MIM: 611466
HGNC: 29017
Ensembl: ENSG00000225190

Variants:

dbSNP: 9842
ClinVar: 9842
TCGA: ENSG00000225190
COSMIC: PLEKHM1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000225190ENST00000430334Q9Y4G2
ENSG00000225190ENST00000446609J3KS30
ENSG00000225190ENST00000579197J3KS30
ENSG00000225190ENST00000581448J3KRU0
ENSG00000225190ENST00000584420J3KRL8
ENSG00000225190ENST00000586084K7EII8
ENSG00000225190ENST00000589780K7EPF2
ENSG00000225190ENST00000590991K7EMP2
ENSG00000225190ENST00000591580K7EQ68

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
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

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
254981452015PLEKHM1 regulates autophagosome-lysosome fusion through HOPS complex and LC3/GABARAP proteins.135
174046182007Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humans.47
209439502010Rubicon and PLEKHM1 negatively regulate the endocytic/autophagic pathway via a novel Rab7-binding domain.40
255001912015PLEKHM1 regulates Salmonella-containing vacuole biogenesis and infection.21
179977092008A new heterozygous mutation (R714C) of the osteopetrosis gene, pleckstrin homolog domain containing family M (with run domain) member 1 (PLEKHM1), impairs vesicular acidification and increases TRACP secretion in osteoclasts.15
259055732015PLEKHM1: Adapting to life at the lysosome.6
128207252001Novel adapter protein AP162 connects a sialyl-Le(x)-positive mucin with an apoptotic signal transduction pathway.1

Citation

Dessen P

PLEKHM1 (pleckstrin homology and RUN domain containing M1)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56569/plekhm1