DDHD domain containing 1

Summary
Gene Symbol
  • DDHD1
Aliases
  • KIAA1705
  • PA-PLA1
  • PAPLA1
  • iPLA1alpha
  • intracellular phospholipase A1 alpha
  • phosphatidic acid-preferring phospholipase A1
Organism
Homo sapiens (human)
NCBI Gene
80821
HGNC
19714
PubChem
80821
Alliance of Genome Resources
JoGo
DDHD1
TogoVar
DDHD1
Annotation
Keyword
  • Alternative splicing
  • Cytoplasm
  • Hereditary spastic paraplegia
  • Hydrolase
  • Phospholipid metabolism
  • Phosphoprotein
  • Proteomics identification
  • Reference proteome
Proteins
Displaying 1 entry
UniProt Protein Name
Q8NEL9
  • DDHD domain-containing protein 1
  • Phosphatidic acid-preferring phospholipase A1 homolog
  • Phospholipid sn-1 acylhydrolase
Gene Ontology (GO)
GO Hierarchy
Displaying all 2 entries
GO Term Evidence Code PMID
cytoplasm
cytosol
OrthoDB (Group)
Group level
Eukaryota
Group Name
PhosphoLipase
Functional Category
  • I: Lipid transport and metabolism
  • O: Posttranslational modification, protein turnover, chaperones
  • T: Signal transduction mechanisms
Displaying all 3 entries
Gene Ontology
hydrolase activity
metal ion binding
phospholipase activity
Displaying 1 entry
InterPro
DDHD domain
Human Protein Atlas
ENSG00000100523

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Disease
Disease Ontology
Displaying 1 entry
DO ID Disease Name Source
DOID:0110779 hereditary spastic paraplegia 28
The Human Phenotype Ontology
Displaying entries 1 - 10 of 21 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0001258 Spastic paraplegia
HP:0001347 Hyperreflexia
HP:0001761 Pes cavus
HP:0002061 Lower limb spasticity
HP:0002063 Rigidity
HP:0002064 Spastic gait
HP:0002172 Postural instability
HP:0002317 Unsteady gait
HP:0002355 Difficulty walking
Displaying all 2 entries
Disease ID Disease Name
ORPHA:101008
  • hereditary spastic paraplegia 28
OMIM:609340
  • hereditary spastic paraplegia 28
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP002241
Gene Name
DDHD domain containing 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: April 6, 2026