ORMDL1 (ORMDL sphingolipid biosynthesis regulator 1)

2014-11-01  

Identity

HGNC
LOCATION
2q32.2
LOCUSID
ALIAS
-
FUSION GENES

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

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
331453512020Expression Patterns and Prognostic Values of ORMDL1 in Different Cancers.2
331453512020Expression Patterns and Prognostic Values of ORMDL1 in Different Cancers.2
273130602016ORMDL proteins regulate ceramide levels during sterile inflammation.34
273130602016ORMDL proteins regulate ceramide levels during sterile inflammation.34
253956222015Expression of the ORMDLS, modulators of serine palmitoyltransferase, is regulated by sphingolipids in mammalian cells.29
253956222015Expression of the ORMDLS, modulators of serine palmitoyltransferase, is regulated by sphingolipids in mammalian cells.29
230660212012Mammalian ORMDL proteins mediate the feedback response in ceramide biosynthesis.80
230660212012Mammalian ORMDL proteins mediate the feedback response in ceramide biosynthesis.80
179283642008A family of membrane proteins associated with presenilin expression and gamma-secretase function.4
179283642008A family of membrane proteins associated with presenilin expression and gamma-secretase function.4

Citation

Dessen P

ORMDL1 (ORMDL sphingolipid biosynthesis regulator 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71547/cancer-prone-explorer/gene-fusions-explorer/js/lib/zoomerang.js