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Aliases for DDHD1 Gene

Aliases for DDHD1 Gene

  • DDHD Domain Containing 1 2 3 5
  • Phosphatidic Acid-Preferring Phospholipase A1 Homolog 3 4
  • Spastic Paraplegia 28 (Autosomal Recessive) 2 3
  • PA-PLA1 3 4
  • Phosphatidic Acid-Preferring Phospholipase A1-Like Protein 3
  • Phosphatidic Acid-Preferring Phospholipase A1 2
  • DDHD Domain-Containing Protein 1 4
  • Phospholipase DDHD1 3
  • EC 3.1.1.- 4
  • KIAA1705 4
  • PAPLA1 3
  • SPG28 3

External Ids for DDHD1 Gene

Previous HGNC Symbols for DDHD1 Gene

  • SPG28

Previous GeneCards Identifiers for DDHD1 Gene

  • GC14M047308
  • GC14M051502
  • GC14M052582
  • GC14M053510
  • GC14M033666

Summaries for DDHD1 Gene

Entrez Gene Summary for DDHD1 Gene

  • This gene is a member of the intracellular phospholipase A1 gene family. The protein encoded by this gene preferentially hydrolyzes phosphatidic acid. It is a cytosolic protein with some mitochondrial localization, and is thought to be involved in the regulation of mitochondrial dynamics. Overexpression of this gene causes fragmentation of the tubular structures in mitochondria, while depletion of the gene results in mitochondrial tubule elongation. Deletion of this gene in male mice caused fertility defects, resulting from disruption in the organization of the mitochondria during spermiogenesis. In humans, mutations in this gene have been associated with hereditary spastic paraplegia (HSP), also known as Strumpell-Lorrain disease, or, familial spastic paraparesis (FSP). This inherited disorder is characterized by progressive weakness and spasticity of the legs. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]

GeneCards Summary for DDHD1 Gene

DDHD1 (DDHD Domain Containing 1) is a Protein Coding gene. Diseases associated with DDHD1 include Spastic Paraplegia 28, Autosomal Recessive and Spastic Paraplegia 28. Among its related pathways are Metabolism and Glycerophospholipid biosynthesis. GO annotations related to this gene include hydrolase activity. An important paralog of this gene is SEC23IP.

UniProtKB/Swiss-Prot for DDHD1 Gene

  • Phospholipase that hydrolyzes phosphatidic acid, including 1,2-dioleoyl-sn-phosphatidic acid. The different isoforms may change the substrate specificity.

Additional gene information for DDHD1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DDHD1 Gene

Genomics for DDHD1 Gene

Regulatory Elements for DDHD1 Gene

Enhancers for DDHD1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14H053126 0.6 Ensembl ENCODE 18.3 +26.2 26217 1.6 MAX LOC101927620 DDHD1 ERO1A GC14M053037
GH14H052917 1.7 FANTOM5 Ensembl ENCODE dbSUPER 3.7 +234.2 234240 3.7 PKNOX1 FOXA2 FEZF1 ZSCAN5C ATF7 ETV6 RUNX3 CREM CEBPB OVOL3 ERO1A STYX LOC101927620 DDHD1 FERMT2 GC14P052872
GH14H053161 0.7 FANTOM5 7 -8.6 -8632 0.2 PKNOX1 HLF CEBPB JUNB IKZF1 ATF7 IKZF2 CREM RUNX3 SPI1 DDHD1 GC14M053163 GC14M053156
GH14H053108 1.4 FANTOM5 Ensembl ENCODE 2.5 +44.1 44092 2.5 PKNOX1 IRF2 TBL1XR1 MAX RBBP5 BMI1 BATF POLR2A EED STAT2 LOC101927620 DDHD1 GC14M053037
GH14H053151 1 ENCODE 0.7 +0.6 571 3.5 HDGF PKNOX1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 GLIS2 LOC101927620 ENSG00000258993 NDUFB3P3 ATP5C1P1 DDHD1 GC14M053037
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DDHD1 on UCSC Golden Path with GeneCards custom track

Promoters for DDHD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Locations for DDHD1 Gene

Genomic Locations for DDHD1 Gene
116,589 bases
Minus strand

Genomic View for DDHD1 Gene

Genes around DDHD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DDHD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DDHD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DDHD1 Gene

Proteins for DDHD1 Gene

  • Protein details for DDHD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Phospholipase DDHD1
    Protein Accession:
    Secondary Accessions:
    • G5E9D1
    • Q8WVH3
    • Q96LL2
    • Q9C0F8

    Protein attributes for DDHD1 Gene

    900 amino acids
    Molecular mass:
    100435 Da
    Quaternary structure:
    • Forms homooligomers and, to a much smaller extent, heterooligomers with DDHD2.
    • Sequence=BAB21796.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAB71679.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for DDHD1 Gene


neXtProt entry for DDHD1 Gene

Post-translational modifications for DDHD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DDHD1 Gene

Domains & Families for DDHD1 Gene

Gene Families for DDHD1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for DDHD1 Gene


Suggested Antigen Peptide Sequences for DDHD1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the PA-PLA1 family.
  • Belongs to the PA-PLA1 family.
genes like me logo Genes that share domains with DDHD1: view

Function for DDHD1 Gene

Molecular function for DDHD1 Gene

UniProtKB/Swiss-Prot Function:
Phospholipase that hydrolyzes phosphatidic acid, including 1,2-dioleoyl-sn-phosphatidic acid. The different isoforms may change the substrate specificity.

Enzyme Numbers (IUBMB) for DDHD1 Gene

Phenotypes From GWAS Catalog for DDHD1 Gene

Gene Ontology (GO) - Molecular Function for DDHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004620 phospholipase activity IBA --
GO:0016787 hydrolase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with DDHD1: view
genes like me logo Genes that share phenotypes with DDHD1: view

Human Phenotype Ontology for DDHD1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DDHD1 Gene

MGI Knock Outs for DDHD1:

Animal Model Products

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for DDHD1 Gene

Localization for DDHD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DDHD1 Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DDHD1 gene
Compartment Confidence
cytosol 5
nucleus 2
mitochondrion 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for DDHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with DDHD1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DDHD1 Gene

Pathways & Interactions for DDHD1 Gene

genes like me logo Genes that share pathways with DDHD1: view

Interacting Proteins for DDHD1 Gene

Gene Ontology (GO) - Biological Process for DDHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006654 phosphatidic acid biosynthetic process TAS --
GO:0016042 lipid catabolic process IEA --
GO:0090141 positive regulation of mitochondrial fission IDA 24599962
genes like me logo Genes that share ontologies with DDHD1: view

No data available for SIGNOR curated interactions for DDHD1 Gene

Drugs & Compounds for DDHD1 Gene

(1) Drugs for DDHD1 Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Warfarin Approved Pharma 493

(12) Additional Compounds for DDHD1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • 1,2-Di-O-palmitoyl-3-sn-glyceryl-O-phosphorate
  • 1,2-Di-O-palmitoyl-3-sn-glyceryl-O-phosphoric acid
  • 1,2-Dihexadecanoyl-rac-phosphatidic acid
  • 1,2-Dipalmitoyl-3-sn-phosphatidate
  • 1,2-Dipalmitoyl-3-sn-phosphatidic acid
  • 1-Hexadecanoyl-2-(11Z-octadecenoyl)-sn-phosphatidic acid
  • 1-Palmitoyl-2-vaccenoyl-sn-glycero-3-phosphate
  • PA(16:0/18:1)
  • PA(16:0/18:1n7)
  • PA(16:0/18:1w7)
  • 1-Hexadecanoyl-2-(9Z-octadecenoyl)-sn-phosphatidic acid
  • 1-Palmitoyl-2-oleoyl-sn-glycero-3-phosphate
  • PA(16:0/18:1)
  • PA(16:0/18:1n9)
  • PA(16:0/18:1w9)
  • 1-Hexadecanoyl-2-(9Z,12Z-octadecadienoyl)-sn-phosphatidic acid
  • 1-Palmitoyl-2-linoleoyl-sn-glycero-3-phosphate
  • PA(16:0/18:2)
  • PA(16:0/18:2n6)
  • PA(16:0/18:2w6)
  • 2-Octadecanoyl-1-hexadecyl-sn-glycero-3-phosphate
  • PA(O-16:0/18:0)
genes like me logo Genes that share compounds with DDHD1: view

Transcripts for DDHD1 Gene

Unigene Clusters for DDHD1 Gene

DDHD domain containing 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DDHD1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b
SP1: - -
SP2: - - -
SP3: -

Relevant External Links for DDHD1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for DDHD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DDHD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DDHD1 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (32.1) and Urinary Bladder (21.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for DDHD1 Gene

NURSA nuclear receptor signaling pathways regulating expression of DDHD1 Gene:


SOURCE GeneReport for Unigene cluster for DDHD1 Gene:


mRNA Expression by UniProt/SwissProt for DDHD1 Gene:

Tissue specificity: Highly expressed in testis. Also expressed in brain, spleen and lung. Only expressed in cerebellum in fetal brain.

Evidence on tissue expression from TISSUES for DDHD1 Gene

  • Nervous system(4.7)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DDHD1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • head
  • lung
  • rib
  • rib cage
  • pelvis
  • foot
  • lower limb
  • peripheral nerve
  • peripheral nervous system
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with DDHD1: view

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for DDHD1 Gene

Orthologs for DDHD1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for DDHD1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia DDHD1 33 34
  • 99.81 (n)
(Bos Taurus)
Mammalia DDHD1 33 34
  • 91.16 (n)
(Canis familiaris)
Mammalia DDHD1 33 34
  • 90.86 (n)
(Mus musculus)
Mammalia Ddhd1 33 16 34
  • 86.59 (n)
(Rattus norvegicus)
Mammalia Ddhd1 33
  • 85.26 (n)
(Ornithorhynchus anatinus)
Mammalia DDHD1 34
  • 82 (a)
(Monodelphis domestica)
Mammalia DDHD1 34
  • 78 (a)
(Gallus gallus)
Aves DDHD1 33 34
  • 79.67 (n)
(Anolis carolinensis)
Reptilia DDHD1 34
  • 80 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ddhd1 33
  • 75.82 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.7818 33
(Danio rerio)
Actinopterygii LOC562868 33
  • 64.65 (n)
ddhd1a 34
  • 58 (a)
ddhd1b 34
  • 56 (a)
(Caenorhabditis elegans)
Secernentea ipla-1 33 34
  • 45.93 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 34
  • 14 (a)
Species where no ortholog for DDHD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DDHD1 Gene

Gene Tree for DDHD1 (if available)
Gene Tree for DDHD1 (if available)

Paralogs for DDHD1 Gene

Paralogs for DDHD1 Gene

(1) SIMAP similar genes for DDHD1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with DDHD1: view

Variants for DDHD1 Gene

Sequence variations from dbSNP and Humsavar for DDHD1 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs1057518484 Uncertain significance 53,054,576(-) TTGGA(C/T)GTTCA reference, missense
rs114715404 Uncertain significance 53,063,000(+) TCCAT(A/C/T)GTTCA reference, missense
rs374202355 Uncertain significance 53,046,822(+) TACAT(A/G)AAGGT reference, synonymous-codon
rs772636180 Uncertain significance 53,061,183(+) AGCCG(-/TTC)TTCTA cds-indel
rs140904345 Benign 53,152,762(+) GAGCT(-/GCC/GCCGCC/GCCGCCGCC/GCCGCCGCCGCC/GCCGCCGCCGCCGCC)GCCGC upstream-variant-2KB, cds-indel

Structural Variations from Database of Genomic Variants (DGV) for DDHD1 Gene

Variant ID Type Subtype PubMed ID
nsv832797 CNV gain 17160897
nsv1116027 CNV deletion 24896259
esv988662 CNV deletion 20482838
esv3379514 CNV insertion 20981092

Variation tolerance for DDHD1 Gene

Residual Variation Intolerance Score: 14.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.42; 71.27% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DDHD1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DDHD1 Gene

Disorders for DDHD1 Gene

MalaCards: The human disease database

(10) MalaCards diseases for DDHD1 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spastic paraplegia 28, autosomal recessive
  • hereditary spastic paraplegia 28
spastic paraplegia 28
  • spastic paraplegia 28, autosomal recessive
spastic paraparesis
spastic paraplegia 54, autosomal recessive
  • hereditary spastic paraplegia 54
- elite association - COSMIC cancer census association via MalaCards
Search DDHD1 in MalaCards View complete list of genes associated with diseases


  • Spastic paraplegia 28, autosomal recessive (SPG28) [MIM:609340]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. Some SPG28 patients also have distal sensory impairment. {ECO:0000269 PubMed:23176821}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for DDHD1

Genetic Association Database (GAD)
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with DDHD1: view

No data available for Genatlas for DDHD1 Gene

Publications for DDHD1 Gene

  1. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11214970) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 2 3 4 60
  2. Cloning of a phosphatidic acid-preferring phospholipase A1 from bovine testis. (PMID: 9488669) Higgs HN … Glomset JA (The Journal of biological chemistry 1998) 3 4 22 60
  3. Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia. (PMID: 23176821) Tesson C … Stevanin G (American journal of human genetics 2012) 3 4 60
  4. Generation of lysophosphatidylinositol by DDHD domain containing 1 (DDHD1): Possible involvement of phospholipase D/phosphatidic acid in the activation of DDHD1. (PMID: 20359546) Yamashita A … Sugiura T (Biochimica et biophysica acta 2010) 2 3 60
  5. p125 is localized in endoplasmic reticulum exit sites and involved in their organization. (PMID: 15623529) Shimoi W … Tani K (The Journal of biological chemistry 2005) 4 22 60

Products for DDHD1 Gene

Sources for DDHD1 Gene

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