Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol DDHD1 contributors: mct/shn - updated : 15/01/2013
HGNC name DDHD domain containing 1
HGNC id 19714
Corresponding disease
SPG28 spastic paraplegia 28
Location 14q21.1      Physical location : 53.503.458 - 53.620.046
Synonym name
  • phosphatidic acid-preferring phospholipase A1-like protein
  • phosphatidic acid-preferring phospholipase A1 homolog
  • DDHD domain-containing protein 1
  • phospholipase DDHD1
  • spastic paraplegia 28 (autosomal recessive)
  • Synonym symbol(s) KIAA1705, PA-PLA1, FLJ34209, FLJ42555, PAPLA1, SPG28
    EC.number 3.1.1
    DNA
    TYPE functioning gene
    STRUCTURE 116.59 kb     13 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map cen - D14S1018 - D14S589 - DDHD1 - D14S989 - D14S139 - qter
    Physical map
    TXNDC 14q21.3 thioredoxin domain containing LOC283553 14q22.1 hypothetical LOC283553 SETP2 14 SET pseudogene 2 C14orf31 14q21.3 chromosome 14 open reading frame 31 LOC341856 14q22.1 similar to putative taste receptor HTR2 C14orf166 14q22.1 chromosome 14 open reading frame 166 NID2 14q21-q22 nidogen 2 (osteonidogen) COX5AP2 14 cytochrome c oxidase subunit Va pseudogene 2 PTGDR 14q22.1 prostaglandin D2 receptor (DP) PTGER2 14q21.2 prostaglandin E receptor 2 (subtype EP2), 53kDa KIAA1344 14q22.1 KIAA1344 DKFZp762F0713 14q22.1 hypothetical protein DKFZp762F0713 ERO1L 14q22.1 ERO1-like (S. cerevisiae) PSMC6 12q15 proteasome (prosome, macropain) 26S subunit, ATPase, 6 STYX  serine/threonine/tyrosine interacting protein GNPNAT1 14q22.1 glucosamine-phosphate N-acetyltransferase 1 PLEKHC1 14q22.1 pleckstrin homology domain containing, family C (with FERM domain) member 1 NDUFB3P3 14q22.3-q23.1 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa pseudogene 3 DDHD1 14q21 DDHD domain containing 1 BMP4 14q22-q23 bone morphogenetic protein 4 LOC341862 14q22.1 similar to ATP synthase gamma chain, mitochondrial precursor CDKN3 14q22 cyclin-dependent kinase inhibitor 3 (CDK2-associated dual specificity phosphatase) CNIH 14q22.1 cornichon homolog (Drosophila) GMFB 14q22.1 glia maturation factor, beta CGRRF1 14q22.1 cell growth regulator with ring finger domain 1 SAMD4 14q22.2 sterile alpha motif domain containing 4 GCH1 14q22.1-q22.2 GTP cyclohydrolase 1 (dopa-responsive dystonia)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 splicing 12885 - 872 - 2010 20359546
    13 splicing 12969 110 900 - - 9488669
    13 splicing 12906 - 879 - 2010 20359546
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunespleen   moderately Homo sapiens
     thymus   specific Homo sapiens
    Nervousbrainmidbrainsubstantia nigra highly Homo sapiens
     brainbasal nucleicaudate nucleus highly Homo sapiens
     brainlimbic systemhippocampus highly Homo sapiens
     braindiencephalonamygdala moderately Homo sapiens
     brainbasal nucleicorpus callosum highly Homo sapiens
     braindiencephalonthalamus highly Homo sapiens
     brainhindbraincerebellum highly Homo sapiens
     brain   moderately Homo sapiens
    Reproductivemale systemtestis  predominantly Homo sapiens
    Respiratorylung   moderately Homo sapiens
    Urinarykidney   lowly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    cell lineage
    cell lines follicular lymphoma,fibrosarcoma
    fluid/secretion
    at STAGE
    Text fetal brain and kidney
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a lipase consensus domain
  • a putative coiled-coil-forming region
  • a DDHD domain
  • HOMOLOGY
    interspecies ortholog to DDHD1, Pan troglodytes
    ortholog to Ddhd1, Mus musculus
    ortholog to Ddhd1, Rattus norvegicus
    Homologene
    FAMILY iPLA1 family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus
    text displayed a diffuse distribution pattern almost exclusively in the cytosol and observed partially in microsomes and mitochondria
    basic FUNCTION
  • may control phosphatidyl inositol concentration in transport vesicle
  • hydrolizing phosphatidic acid
  • may function as a calcium transporter
  • may be participating in spermiogenesis
  • implicated in the formation of 2-arachidonoyl-lysophosphatidylinositol and indicate that the process is modulated by phosphatidic acid released by phospholipase D (
  • contributes to efficient membrane trafficking from the Golgi apparatus to the plasma membrane
  • might be involved in the maintenance of organelle membranes and intracellular trafficking
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS cellular trafficking transport
    PATHWAY
    metabolism lipid/lipoprotein
    signaling
    a component DDHD1-SLC7A7-GPR55 axis may be involved in functions in the brain (
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
    Ca2+ binding
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SPG28
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS