LRSAM1 (leucine rich repeat and sterile alpha motif containing 1)

2014-11-01  

Identity

HGNC
LRSAM1
LOCATION
9q33.3
LOCUSID
90678
ALIAS
CMT2P,RIFLE,TAL
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 90678
MIM: 610933
HGNC: 25135
Ensembl: ENSG00000148356

Variants:

dbSNP: 90678
ClinVar: 90678
TCGA: ENSG00000148356
COSMIC: LRSAM1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000148356ENST00000300417Q6UWE0
ENSG00000148356ENST00000300417A0A024R870
ENSG00000148356ENST00000323301Q6UWE0
ENSG00000148356ENST00000323301A0A024R870
ENSG00000148356ENST00000373322Q6UWE0
ENSG00000148356ENST00000373322A0A024R870
ENSG00000148356ENST00000373324Q6UWE0

Expression (GTEx)

0
5
10
15
20
25
30
35
40
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
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
Class I MHC mediated antigen processing & presentationREACTOMER-HSA-983169
Antigen processing: Ubiquitination & Proteasome degradationREACTOMER-HSA-983168

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
232453222012The LRR and RING domain protein LRSAM1 is an E3 ligase crucial for ubiquitin-dependent autophagy of intracellular Salmonella Typhimurium.92
152565012004Tal, a Tsg101-specific E3 ubiquitin ligase, regulates receptor endocytosis and retrovirus budding.69
206160632011Human leucine-rich repeat proteins: a genome-wide bioinformatic categorization and functional analysis in innate immunity.69
180775522008Regulation of Tsg101 expression by the steadiness box: a role of Tsg101-associated ligase.26
208651212010Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth disease.22
220129842012A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy.22
227810922013A novel LRSAM1 mutation is associated with autosomal dominant axonal Charcot-Marie-Tooth disease.10
146351952003RIFLE: a novel ring zinc finger-leucine-rich repeat containing protein, regulates select cell adhesion molecules in PC12 cells.7
248944462014A novel mutation in LRSAM1 causes axonal Charcot-Marie-Tooth disease with dominant inheritance.7
254840982014PHF23 (plant homeodomain finger protein 23) negatively regulates cell autophagy by promoting ubiquitination and degradation of E3 ligase LRSAM1.7

Citation

Dessen P

LRSAM1 (leucine rich repeat and sterile alpha motif containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/68675/lrsam1