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Aliases for DDHD1 Gene

Aliases for DDHD1 Gene

  • DDHD Domain Containing 1 2 3
  • Phosphatidic Acid-Preferring Phospholipase A1 Homolog 3 4
  • Spastic Paraplegia 28 (Autosomal Recessive) 2 3
  • DDHD Domain-Containing Protein 1 3 4
  • KIAA1705 4 6
  • PA-PLA1 3 4
  • PAPLA1 3 6
  • SPG28 3 6
  • Phosphatidic Acid-Preferring Phospholipase A1-Like Protein 3
  • Phosphatidic Acid-Preferring Phospholipase A1 2
  • Phospholipase DDHD1 3
  • EC 3.1.1.- 4

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

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. 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 Entrez Gene 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for DDHD1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 for DDHD1 Gene

Protein Domains for DDHD1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DDHD1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8NEL9

UniProtKB/Swiss-Prot:

DDHD1_HUMAN :
  • Q8NEL9
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

Gene Ontology (GO) - Molecular Function for DDHD1 Gene

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

Animal Model Products

CRISPR Products

miRNA for DDHD1 Gene

miRTarBase miRNAs that target DDHD1

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DDHD1

In Situ Assay Products

Flow Cytometry Products

No data available for Phenotypes , Animal Models , Transcription Factor Targeting 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 3
nucleus 2

Gene Ontology (GO) - Cellular Components for DDHD1 Gene

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

Pathways for DDHD1 Gene

SuperPathways for DDHD1 Gene

No Data Available

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:0008219 cell death --
GO:0016042 lipid catabolic process IEA --
genes like me logo Genes that share ontologies with DDHD1: view

No data available for Pathways by source for DDHD1 Gene

Compounds for DDHD1 Gene

(12) HMDB Compounds for DDHD1 Gene

Compound Synonyms Cas Number PubMed IDs
PA(16:0/16:0)
  • Dipalmitoylphosphatidic acid
7091-44-3
PA(16:0/18:1(11Z))
  • PA(16:0/18:1n7)
Not Available
PA(16:0/18:1(9Z))
  • PA(16:0/18:1n9)
Not Available
PA(16:0/18:2(9Z,12Z))
  • PA(34:2)
Not Available
PA(16:0e/18:0)
  • 2-octadecanoyl-1-hexadecyl-sn-glycero-3-phosphate
Not Available
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:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DDHD1

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for DDHD1

Flow Cytometry 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: -
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

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, 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 expressions with DDHD1: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues 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
chimpanzee
(Pan troglodytes)
Mammalia DDHD1 35
  • 99.81 (n)
  • 99.77 (a)
DDHD1 36
  • 98 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia DDHD1 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DDHD1 36
  • 82 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ddhd1 35
  • 85.26 (n)
  • 91.58 (a)
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
African clawed frog
(Xenopus laevis)
Amphibia Xl.7818 35
tropical clawed frog
(Silurana tropicalis)
Amphibia ddhd1 35
  • 75.82 (n)
  • 78.9 (a)
zebrafish
(Danio rerio)
Actinopterygii ddhd1a 36
  • 58 (a)
OneToMany
ddhd1b 36
  • 56 (a)
OneToMany
LOC562868 35
  • 64.65 (n)
  • 70.61 (a)
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

Selected 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 MAF
rs15873 -- 53,046,832(+) TTAAA(A/G)GAAAA missense, reference
rs875663 -- 53,072,753(-) TCCTG(C/T)AACAG intron-variant
rs915436 -- 53,058,674(-) TGAAA(A/G)ATAAC intron-variant
rs915441 -- 53,127,904(-) GGACA(C/G/T)GGCCA intron-variant
rs915442 -- 53,127,693(-) ATTTG(C/T)TTTTT 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

Relevant External Links for DDHD1 Gene

HapMap Linkage Disequilibrium report
DDHD1
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

MalaCards: The human disease database. (1) Diseases for DDHD1 Gene including...

Search for DDHD1 Gene in MalaCards »

(1) OMIM Diseases for DDHD1 Gene (614603)

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.

(1) University of Copenhagen DISEASES for DDHD1 Gene

Relevant External Links for DDHD1

Genetic Association Database (GAD)
DDHD1
genes like me logo Genes that share disorders with DDHD1: view

Publications for DDHD1 Gene

  1. Cloning of a phosphatidic acid-preferring phospholipase A1 from bovine testis. (PMID: 9488669) Higgs H.N. … Glomset J.A. (J. Biol. Chem. 1998) 3 4 23
  2. 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
  3. p125 is localized in endoplasmic reticulum exit sites and involved in their organization. (PMID: 15623529) Shimoi W. … Tani K. (J. Biol. Chem. 2005) 4 23
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for DDHD1 Gene

Sources for DDHD1 Gene

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