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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
  • 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.

No data available for 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around DDHD1 on UCSC Golden Path with GeneCards custom track

Genomic Location for DDHD1 Gene

Chromosome:
14
Start:
53,036,740 bp from pter
End:
53,153,328 bp from pter
Size:
116,589 bases
Orientation:
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:
    Q8NEL9-DDHD1_HUMAN
    Recommended name:
    Phospholipase DDHD1
    Protein Accession:
    Q8NEL9
    Secondary Accessions:
    • G5E9D1
    • Q8WVH3
    • Q96LL2
    • Q9C0F8

    Protein attributes for DDHD1 Gene

    Size:
    900 amino acids
    Molecular mass:
    100435 Da
    Quaternary structure:
    • Forms homooligomers and, to a much smaller extent, heterooligomers with DDHD2.
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for DDHD1 Gene

Proteomics data for DDHD1 Gene at MOPED

Post-translational modifications for DDHD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DDHD1 Gene

No data available for DME Specific Peptides for DDHD1 Gene

Domains & Families for DDHD1 Gene

Protein Domains for DDHD1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DDHD1 Gene

Graphical View of Domain Structure for InterPro Entry

Q8NEL9

UniProtKB/Swiss-Prot:

DDHD1_HUMAN :
  • Contains 1 DDHD domain.
  • Belongs to the PA-PLA1 family.
Domain:
  • Contains 1 DDHD domain.
Family:
  • Belongs to the PA-PLA1 family.
genes like me logo Genes that share domains with DDHD1: view

No data available for Gene Families for DDHD1 Gene

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

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

No data available for Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for DDHD1 Gene

Localization for DDHD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DDHD1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DDHD1 Gene COMPARTMENTS Subcellular localization image for DDHD1 gene
Compartment Confidence
cytosol 5
nucleus 2
golgi apparatus 1
mitochondrion 1

No data available for Gene Ontology (GO) - Cellular Components for DDHD1 Gene

Pathways & Interactions for DDHD1 Gene

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

Interacting Proteins for DDHD1 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000327104%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: ENSP00000327104 Q8NEL9-DDHD1_HUMAN for DDHD1 Gene via STRING I2D

Gene Ontology (GO) - Biological Process for DDHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016042 lipid catabolic process IEA --
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

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
PA(16:0/16:0)
  • 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
7091-44-3
PA(16:0/18:1(11Z))
  • 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)
PA(16:0/18:1(9Z))
  • 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)
PA(16:0/18:2(9Z,12Z))
  • 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)
PA(16:0e/18:0)
  • 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:

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: -
SP4:

Relevant External Links for DDHD1 Gene

GeneLoc Exon Structure for
DDHD1
ECgene alternative splicing isoforms for
DDHD1

Expression for DDHD1 Gene

mRNA expression in normal human tissues 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, MOPED, and MaxQB for DDHD1 Gene



SOURCE GeneReport for Unigene cluster for DDHD1 Gene Hs.125525

mRNA Expression by UniProt/SwissProt for DDHD1 Gene

Q8NEL9-DDHD1_HUMAN
Tissue specificity: Highly expressed in testis. Also expressed in brain, spleen and lung. Only expressed in cerebellum in fetal brain.
genes like me logo Genes that share expression patterns with DDHD1: view

Primer Products

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
cow
(Bos Taurus)
Mammalia DDHD1 35
  • 91.16 (n)
  • 92.31 (a)
DDHD1 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DDHD1 35
  • 90.86 (n)
  • 91.01 (a)
DDHD1 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ddhd1 35
  • 86.59 (n)
  • 90 (a)
Ddhd1 16
Ddhd1 36
  • 83 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia DDHD1 35
  • 99.81 (n)
  • 99.77 (a)
DDHD1 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ddhd1 35
  • 85.26 (n)
  • 91.58 (a)
oppossum
(Monodelphis domestica)
Mammalia DDHD1 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DDHD1 36
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves DDHD1 35
  • 79.67 (n)
  • 84.75 (a)
DDHD1 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DDHD1 36
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ddhd1 35
  • 75.82 (n)
  • 78.9 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.7818 35
zebrafish
(Danio rerio)
Actinopterygii LOC562868 35
  • 64.65 (n)
  • 70.61 (a)
ddhd1a 36
  • 58 (a)
OneToMany
ddhd1b 36
  • 56 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ipla-1 35
  • 45.93 (n)
  • 37.8 (a)
ipla-1 36
  • 21 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 36
  • 14 (a)
OneToMany
Species with no ortholog for DDHD1:
  • 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

ENSEMBL:
Gene Tree for DDHD1 (if available)
TreeFam:
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
rs15873 -- 53,046,832(+) TTAAA(A/G)GAAAA reference, missense
rs7140307 -- 53,082,503(+) CCTGT(A/G)ATCCC intron-variant
rs7140368 -- 53,145,742(+) TGTAT(G/T)TCTCA intron-variant
rs7140986 -- 53,053,032(+) TACAT(A/T)CGTTT intron-variant
rs7141133 -- 53,084,388(+) ATCAA(A/T)CTGAT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv832797 CNV Gain 17160897
nsv901954 CNV Gain 21882294
esv988662 CNV Deletion 20482838

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)
DDHD1

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

Disorders for DDHD1 Gene

MalaCards: The human disease database

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

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

UniProtKB/Swiss-Prot

DDHD1_HUMAN
  • 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)
DDHD1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DDHD1
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 Res. 2000) 2 3 4 67
  2. 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. (Biochim. Biophys. Acta 2010) 2 3
  3. Cloning of a phosphatidic acid-preferring phospholipase A1 from bovine testis. (PMID: 9488669) Higgs H.N. … Glomset J.A. (J. Biol. Chem. 1998) 3 23
  4. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3
  5. Phosphatidic acid (PA)-preferring phospholipase A1 regulates mitochondrial dynamics. (PMID: 24599962) Baba T. … Tani K. (J. Biol. Chem. 2014) 3

Products for DDHD1 Gene

Sources for DDHD1 Gene

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