Gene Gene information from NCBI Gene database.
Entrez ID 56261
Gene name Glycerophosphocholine phosphodiesterase 1
Gene symbol GPCPD1
Synonyms (NCBI Gene)
EDI3GDE5GDPD6PREI4
Chromosome 20
Chromosome location 20p12.3
miRNA miRNA information provided by mirtarbase database.
520
miRTarBase ID miRNA Experiments Reference
MIRT039150 hsa-miR-769-5p CLASH 23622248
MIRT507103 hsa-miR-107 PAR-CLIP 23446348
MIRT507102 hsa-miR-103a-3p PAR-CLIP 23446348
MIRT507101 hsa-miR-10a-5p PAR-CLIP 23446348
MIRT507100 hsa-miR-504-5p PAR-CLIP 23446348
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 28514442, 33961781
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol IEA
GO:0006629 Process Lipid metabolic process IEA
GO:0007519 Process Skeletal muscle tissue development IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
614124 26957 ENSG00000125772
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NPB8
Protein name Glycerophosphocholine phosphodiesterase GPCPD1 (EC 3.1.4.2) (Glycerophosphodiester phosphodiesterase 5)
Protein function May be involved in the negative regulation of skeletal muscle differentiation, independently of its glycerophosphocholine phosphodiesterase activity.
PDB 2Z0B
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00686 CBM_20 3 103 Starch binding domain Family
PF03009 GDPD 323 612 Glycerophosphoryl diester phosphodiesterase family Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed, with highest expression in spinal chord.
Sequence
MTPSQVAFEIRGTLLPGEVFAICGSCDALGNWNPQNAVALLPENDTGESMLWKATIVLSR
GVSVQYRYFKGYFLEPKTIGGPCQVIVHKWETHLQPRSITPLE
SEIIIDDGQFGIHNGVE
TLDSGWLTCQTEIRLRLHYSEKPPVSITKKKLKKSRFRVKLTLEGLEEDDDDRVSPTVLH
KMSNSLEISLISDNEFKCRHSQPECGYGLQPDRWTEYSIQTMEPDNLELIFDFFEEDLSE
HVVQGDALPGHVGTACLLSSTIAESGKSAGILTLPIMSRNSRKTIGKVRVDYIIIKPLPG
YSCDMKSSFSKYWKPRIPLDVGHRGAGNSTTTAQLAKVQENTIASLRNAASHGAAFVEFD
VHLSKDFVPVVYHDLTCCLTMKKKFDADPVELFEIPVKELTFDQLQLLKLTHVTALKSKD
RKESVVQEENSFSENQPFPSLKMVLESLPEDVGFNIEIKWICQQRDGMWDGNLSTYFDMN
LFLDIILKTVLENSGKRRIVFSSFDADICTMVRQKQNKYPILFLTQGKSEIYPELMDLRS
RTTPIAMSFAQFENLLGINVHTEDLLRNPSYIQEAKAKGLVIFCWGDDTNDPENRRKLKE
LGVNGLIYDRIY
DWMPEQPNIFQVEQLERLKQELPELKSCLCPTVSRFVPSSLCGESDIH
VDANGIDNVENA
Sequence length 672
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Glycerophospholipid metabolism
Choline metabolism in cancer
 
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
GLOMERULONEPHRITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Breast Neoplasms Breast neoplasm Pubtator 27356959, 28654865 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 24840392 Associate
★☆☆☆☆
Found in Text Mining only
Eating Disorders Eating Disorders BEFREE 25998413, 28436086, 28508273, 28724422, 29615945
★☆☆☆☆
Found in Text Mining only
Endometrial Carcinoma Endometrial carcinoma BEFREE 22570503
★☆☆☆☆
Found in Text Mining only
Hypoxia Hypoxia Pubtator 36803235 Associate
★☆☆☆☆
Found in Text Mining only
Myocardial Infarction Myocardial infarction Pubtator 36863716 Associate
★☆☆☆☆
Found in Text Mining only
Obesity Obesity BEFREE 29615945
★☆☆☆☆
Found in Text Mining only
Sarcopenia Sarcopenia Pubtator 36147639 Associate
★☆☆☆☆
Found in Text Mining only
Triple Negative Breast Neoplasms Triple negative breast cancer Pubtator 36803235 Associate
★☆☆☆☆
Found in Text Mining only