Identity
HGNC
LOCATION
14q22.1
LOCUSID
ALIAS
PA-PLA1,PAPLA1,SPG28,iPLA1alpha
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 80821
MIM: 614603
HGNC: 19714
Ensembl: ENSG00000100523
Variants:
dbSNP: 80821
ClinVar: 80821
TCGA: ENSG00000100523
COSMIC: DDHD1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA451906 | warfarin | Chemical | ClinicalAnnotation | associated | PD | 27488176 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33952459 | 2021 | Expression of Lysophosphatidylinositol Signaling-relevant Molecules in Colorectal Cancer. | 3 |
| 34089703 | 2021 | Phosphorylation of human phospholipase A1 DDHD1 at newly identified phosphosites affects its subcellular localization. | 2 |
| 33952459 | 2021 | Expression of Lysophosphatidylinositol Signaling-relevant Molecules in Colorectal Cancer. | 3 |
| 34089703 | 2021 | Phosphorylation of human phospholipase A1 DDHD1 at newly identified phosphosites affects its subcellular localization. | 2 |
| 28818478 | 2017 | Mutations in DDHD1, encoding a phospholipase A1, is a novel cause of retinopathy and neurodegeneration with brain iron accumulation. | 11 |
| 28818478 | 2017 | Mutations in DDHD1, encoding a phospholipase A1, is a novel cause of retinopathy and neurodegeneration with brain iron accumulation. | 11 |
| 27216551 | 2016 | A novel frameshift mutation of DDHD1 in a Japanese patient with autosomal recessive spastic paraplegia. | 7 |
| 27216551 | 2016 | A novel frameshift mutation of DDHD1 in a Japanese patient with autosomal recessive spastic paraplegia. | 7 |
| 24599962 | 2014 | Phosphatidic acid (PA)-preferring phospholipase A1 regulates mitochondrial dynamics. | 64 |
| 24989667 | 2014 | Impairment of brain and muscle energy metabolism detected by magnetic resonance spectroscopy in hereditary spastic paraparesis type 28 patients with DDHD1 mutations. | 14 |
| 24599962 | 2014 | Phosphatidic acid (PA)-preferring phospholipase A1 regulates mitochondrial dynamics. | 64 |
| 24989667 | 2014 | Impairment of brain and muscle energy metabolism detected by magnetic resonance spectroscopy in hereditary spastic paraparesis type 28 patients with DDHD1 mutations. | 14 |
| 20359546 | 2010 | Generation of lysophosphatidylinositol by DDHD domain containing 1 (DDHD1): Possible involvement of phospholipase D/phosphatidic acid in the activation of DDHD1. | 24 |
| 20359546 | 2010 | Generation of lysophosphatidylinositol by DDHD domain containing 1 (DDHD1): Possible involvement of phospholipase D/phosphatidic acid in the activation of DDHD1. | 24 |
Citation
Dessen P
DDHD1 (DDHD domain containing 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/62347/ddhd1-(ddhd-domain-containing-1)
