ORMDL1 (ORMDL sphingolipid biosynthesis regulator 1)

2014-11-01  

Identity

HGNC
ORMDL1
LOCATION
2q32.2
LOCUSID
94101
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 94101
MIM: 610073
HGNC: 16036
Ensembl: ENSG00000128699

Variants:

dbSNP: 94101
ClinVar: 94101
TCGA: ENSG00000128699
COSMIC: ORMDL1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000128699ENST00000325795Q9P0S3
ENSG00000128699ENST00000392349Q9P0S3
ENSG00000128699ENST00000392350Q9P0S3
ENSG00000128699ENST00000409519A0A1B0GXE7
ENSG00000128699ENST00000442547F6WST4
ENSG00000128699ENST00000458355F6WST4

Expression (GTEx)

0
10
20
30
40
50
60
70
80
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
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Sphingolipid metabolismREACTOMER-HSA-428157
Sphingolipid de novo biosynthesisREACTOMER-HSA-1660661

References

Pubmed IDYearTitleCitations
230660212012Mammalian ORMDL proteins mediate the feedback response in ceramide biosynthesis.40
253956222015Expression of the ORMDLS, modulators of serine palmitoyltransferase, is regulated by sphingolipids in mammalian cells.16
273130602016ORMDL proteins regulate ceramide levels during sterile inflammation.14
179283642008A family of membrane proteins associated with presenilin expression and gamma-secretase function.3

Citation

Dessen P

ORMDL1 (ORMDL sphingolipid biosynthesis regulator 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71547/ormdl1