GDPD1 (glycerophosphodiester phosphodiesterase domain containing 1)

2014-11-01  

Identity

HGNC
LOCATION
17q22
LOCUSID
ALIAS
GDE4
FUSION GENES

Other Information

Locus ID:

NCBI: 284161
MIM: 616317
HGNC: 20883
Ensembl: ENSG00000153982

Variants:

dbSNP: 284161
ClinVar: 284161
TCGA: ENSG00000153982
COSMIC: GDPD1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000153982ENST00000284116Q8N9F7
ENSG00000153982ENST00000578026J3KTA9
ENSG00000153982ENST00000579020J3QQN7
ENSG00000153982ENST00000579076J3QRR6
ENSG00000153982ENST00000581140Q8N9F7
ENSG00000153982ENST00000581276Q8N9F7

Expression (GTEx)

0
5
10
15
20

Pathways

PathwaySourceExternal ID
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Phospholipid metabolismREACTOMER-HSA-1483257
PI MetabolismREACTOMER-HSA-1483255
Glycerophospholipid catabolismREACTOMER-HSA-6814848

References

Pubmed IDYearTitleCitations
346730202021Development of a selective fluorescence-based enzyme assay for glycerophosphodiesterase family members GDE4 and GDE7.2
346730202021Development of a selective fluorescence-based enzyme assay for glycerophosphodiesterase family members GDE4 and GDE7.2
330222222020Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa.48
330222222020Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa.48
189911422008Isolation, characterization and molecular 3D model of human GDE4, a novel membrane protein containing glycerophosphodiester phosphodiesterase domain.6
189911422008Isolation, characterization and molecular 3D model of human GDE4, a novel membrane protein containing glycerophosphodiester phosphodiesterase domain.6
146129812003A novel splice variant of human gene GDPD1 is mainly expressed in human ovary and small intestine.1
146129812003A novel splice variant of human gene GDPD1 is mainly expressed in human ovary and small intestine.1

Citation

Dessen P

GDPD1 (glycerophosphodiester phosphodiesterase domain containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63746/gene-fusions/css/lib/js/web-card-gene.js