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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

DDHD1 Gene

protein-coding   GIFtS: 51
GCID: GC14M053510

DDHD Domain Containing 1

(Previous name: spastic paraplegia 28 (autosomal recessive))
(Previous symbol: SPG28)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
DDHD Domain Containing 11 2     Phosphatidic Acid-Preferring Phospholipase A11
SPG281 2     PAPLA12
Spastic Paraplegia 28 (Autosomal Recessive)1 2     Phosphatidic Acid-Preferring Phospholipase A1-Like Protein2
Phosphatidic Acid-Preferring Phospholipase A1 Homolog2 3     Phospholipase DDHD12
PA-PLA12 3     EC 3.1.1.-3
DDHD Domain-Containing Protein 12 3     KIAA17053

External Ids:    HGNC: 197141   Entrez Gene: 808212   Ensembl: ENSG000001005237   OMIM: 6146035   UniProtKB: Q8NEL93   

Export aliases for DDHD1 gene to outside databases

Previous GC identifers: GC14M047308 GC14M051502 GC14M052582 GC14M033666


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for DDHD1 Gene: 
DDHD1 (DDHD domain containing 1) is a protein-coding gene. Diseases associated with DDHD1 include autosomal recessive spastic paraplegia type 28, and paraplegia. GO annotations related to this gene include hydrolase activity and metal ion binding. An important paralog of this gene is DDHD2.

UniProtKB/Swiss-Prot: DDHD1_HUMAN, Q8NEL9
Function: Phospholipase that hydrolyzes phosphatidic acid, including 1,2-dioleoyl-sn-phosphatidic acid. The
different isoforms may change the substrate specificity




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NT_026437.12  NC_018925.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DDHD1 gene promoter:
         AhR   Pax-2b   FOXJ2 (long isoform)   c-Myb   FOXJ2   ITF-2   Tal-1beta   c-Ets-1   Arnt   Egr-4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): DDHD1 promoter sequence
   Search SABiosciences Chromatin IP Primers for DDHD1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DDHD1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q21   Ensembl cytogenetic band:  14q22.1   HGNC cytogenetic band: 14q21

DDHD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DDHD1 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M053510:  view genomic region     (about GC identifiers)

Start:
53,503,458 bp from pter      End:
53,620,046 bp from pter
Size:
116,589 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: DDHD1_HUMAN, Q8NEL9 (See protein sequence)
Recommended Name: Phospholipase DDHD1  
Size: 900 amino acids; 100435 Da
Subunit: Forms homooligomers and, to a much smaller extent, heterooligomers with DDHD2
Subcellular location: Cytoplasm
Sequence caution: Sequence=BAB21796.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=BAB71679.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: G5E9D1 Q8WVH3 Q96LL2 Q9C0F8
Alternative splicing: 4 isoforms:  Q8NEL9-1   Q8NEL9-2   Q8NEL9-3   Q8NEL9-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for DDHD1: NX_Q8NEL9

Explore proteomics data for DDHD1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8NEL9

  • DDHD1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    DDHD1 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001153619.1  NP_001153620.1  NP_085140.2  

    ENSEMBL proteins: 
     ENSP00000327104   ENSP00000378970   ENSP00000350401   ENSP00000450785  

    Human Recombinant Protein Products for DDHD1: 
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    Novus Biologicals DDHD1 Protein
    Novus Biologicals DDHD1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for DDHD1 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--

    DDHD1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR004177 DDHD

    Graphical View of Domain Structure for InterPro Entry Q8NEL9

    ProtoNet protein and cluster: Q8NEL9

    UniProtKB/Swiss-Prot: DDHD1_HUMAN, Q8NEL9
    Similarity: Belongs to the PA-PLA1 family
    Similarity: Contains 1 DDHD domain


    DDHD1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DDHD1_HUMAN, Q8NEL9
    Function: Phospholipase that hydrolyzes phosphatidic acid, including 1,2-dioleoyl-sn-phosphatidic acid. The
    different isoforms may change the substrate specificity

         Enzyme Number (IUBMB): EC 3.1.1.-1

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016787hydrolase activity IEA--
    GO:0046872metal ion binding IEA--
         
    DDHD1 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for DDHD1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for DDHD1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DDHD1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DDHD1 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DDHD1
    8/135 QIAGEN miScript miRNA Assays for microRNAs that regulate DDHD1 (see all 135):
    hsa-miR-520f hsa-miR-631 hsa-miR-376b hsa-miR-146a hsa-miR-199a-3p hsa-miR-106a hsa-miR-128 hsa-miR-3916
    SwitchGear 3'UTR luciferase reporter plasmidDDHD1 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
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    Gene Editing
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    Clone
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DDHD1

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    2 Interacting proteins for DDHD1 (Q8NEL93 ENSP000003504014) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAP1LC3AQ9H4923I2D: score=1 
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008219cell death IEA--
    GO:0016042lipid catabolic process IEA--

    DDHD1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for DDHD1

    10/12 HMDB Compounds for DDHD1 (see all 12)    About this table
    CompoundSynonyms CAS #PubMed Ids
    PA(16:0/16:0)Dipalmitoylphosphatidic acid (see all 25)7091-44-3--
    PA(16:0/18:1(11Z))PA(16:0/18:1n7) (see all 10)----
    PA(16:0/18:1(9Z))PA(16:0/18:1n9) (see all 10)----
    PA(16:0/18:2(9Z,12Z))PA(34:2) (see all 10)----
    PA(16:0e/18:0)2-octadecanoyl-1-hexadecyl-sn-glycero-3-phosphate ;PA(o-16:0/18:0) ----
    PA(18:0/18:2(9Z,12Z))PA(36:2) (see all 10)----
    PA(18:1(11Z)/18:1(11Z))PA(36:2) (see all 10)----
    PA(18:1(11Z)/18:1(9Z))PA(36:2) (see all 10)----
    PA(18:1(9Z)/18:1(11Z))PA(36:2) (see all 10)----
    PA(18:1(9Z)/18:1(9Z))PA(36:2) (see all 10)14268-17-8--

    Search CenterWatch for drugs/clinical trials and news about DDHD1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for DDHD1 gene (3 alternative transcripts): 
    NM_001160147.1  NM_001160148.1  NM_030637.2  

    Unigene Cluster for DDHD1:

    DDHD domain containing 1
    Hs.125525  [show with all ESTs]
    Unigene Representative Sequence: NM_001160148
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000323669(uc001xag.3) ENST00000395606 ENST00000357758(uc001xai.3 uc001xaj.3 uc001xah.3)
    ENST00000556027 ENST00000555621 ENST00000555400(uc001xak.1) ENST00000553406
    ENST00000556910 ENST00000557445
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DDHD1
    8/135 QIAGEN miScript miRNA Assays for microRNAs that regulate DDHD1 (see all 135):
    hsa-miR-520f hsa-miR-631 hsa-miR-376b hsa-miR-146a hsa-miR-199a-3p hsa-miR-106a hsa-miR-128 hsa-miR-3916
    SwitchGear 3'UTR luciferase reporter plasmidDDHD1 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for DDHD1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DDHD1
    Clone
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    OriGene clones in human, mouse for DDHD1 (see all 14)
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    GenScript: all cDNA clones in your preferred vector (see all 3): DDHD1 (NM_030637)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DDHD1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DDHD1
    Sirion Biotech Customized lentivirus for stable overexpression of DDHD1 
                         Customized lentivirus expression plasmids for stable overexpression of DDHD1 
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for DDHD1
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat DDHD1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DDHD1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DDHD1

    Additional mRNA sequence: 

    AK058137.1 AK091528.1 AK124546.1 AK125372.1 AK125556.1 BC018014.1 BC030703.2 DQ315474.1 
    GU376468.1 

    10 DOTS entries:

    DT.315002  DT.97806302  DT.100750150  DT.92054022  DT.100750151  DT.313423  DT.95078586  DT.437134 
    DT.40130410  DT.91793917 

    24/136 AceView cDNA sequences (see all 136):

    BG055003 AA360393 AL704404 BQ004865 BQ723580 AI027247 AI285854 BG291446 
    AW025272 BU170233 N72417 BQ217389 BU194949 CA391518 BC018014 BC030703 
    AI674038 BX115266 AA455622 AA923766 NM_030637 AA831774 T31357 CB162752 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for DDHD1    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b
    SP1:              -                       -                                                                     
    SP2:              -                       -                                                     -               
    SP3:                                                                                            -               
    SP4:                                                                                                            


    ECgene alternative splicing isoforms for DDHD1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    DDHD1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    DDHD1 Expression
    About this image


    See DDHD1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DDHD1

    SOURCE GeneReport for Unigene cluster: Hs.125525

    UniProtKB/Swiss-Prot: DDHD1_HUMAN, Q8NEL9
    Tissue specificity: Highly expressed in testis. Also expressed in brain, spleen and lung. Only expressed in
    cerebellum in fetal brain

        SABiosciences Custom PCR Arrays for DDHD1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DDHD1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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

    Orthologs for DDHD1 gene from 7/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ddhd11 , 5 DDHD domain containing 11, 5 87.03(n)1
    90.74(a)1
      14 (23.14 cM)5
    1148741  NM_001039106.21  NP_001034195.21 
     455931745 
    chicken
    (Gallus gallus)
    Aves DDHD11 DDHD domain containing 1 78.44(n)
    83.19(a)
      423592  XM_421479.3  XP_421479.3 
    lizard
    (Anolis carolinensis)
    Reptilia DDHD16
    DDHD domain containing 1
    81(a)
    1 ↔ 1
    GL343527.1(256159-293412)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.78182 Xenopus laevis transcribed sequence with weak similarity more 82.22(n)    48028659 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5628681 phospholipase DDHD1-like 64.31(n)
    69.62(a)
      562868  XM_686235.5  XP_691327.4 
    worm
    (Caenorhabditis elegans)
    Secernentea ipla-11 Protein IPLA-1 45.23(n)
    36.71(a)
      173795  NM_001047329.1  NP_001040794.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes YOR022C6
    Protein with similarity to bovine phospholipase A1...
    14(a)
    1 → many
    XV(373710-375857)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DDHD1 gene
    DDHD22  SEC23IP2  
    1 SIMAP similar gene for DDHD1 using alignment to 2 protein entries:     DDHD1_HUMAN (see all proteins):
    PA-PLA1

    DDHD1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2485 SNPs in DDHD1 are shown (see all 2485)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs350597881,2
    C--34532926(+) ATACCT/-TTTTT 3 -- int11Minor allele frequency- -:0.50NA 2
    rs128972441,2
    C,F,H--53502963(+) GAATGC/TCTGCA 3 -- int112Minor allele frequency- T:0.04NS EA NA 1392
    rs779060961,2
    C,F--53502973(+) AATTAT/CAAATA 3 -- int12Minor allele frequency- C:0.18WA 120
    rs1823473311,2
    --53503190(+) GGCTTC/TTCCCA 3 -- int10--------
    rs1446350391,2
    --53503242(+) AAGGCA/GAAGAT 3 -- int10--------
    rs732920821,2
    C,F--53503347(+) TGTACT/CGTGGA 3 -- int13Minor allele frequency- C:0.18WA CSA 121
    rs1873298351,2
    --53503480(+) GCTTTC/TGTGTT 3 -- ut310--------
    rs1894216961,2
    C--53503533(+) GTAAAA/TGTGCA 3 -- ut310--------
    rs1385906441,2
    --53503564(+) TGTGTA/GATGCT 3 -- ut310--------
    rs732920851,2
    C,F--53503575(+) GAGGTT/CTGAGG 3 -- ut312Minor allele frequency- C:0.18WA 120

    HapMap Linkage Disequilibrium report for DDHD1 (53503458 - 53620046 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for DDHD1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv988662CNV Deletion20482838
    nsv901954CNV Gain21882294
    nsv832797CNV Gain17160897


    Human Gene Mutation Database (HGMD): DDHD1
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 614603    OMIM disorders: --

    UniProtKB/Swiss-Prot: DDHD1_HUMAN, Q8NEL9
  • 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. Note=The disease
    is caused by mutations affecting the gene represented in this entry

  • 3 diseases for DDHD1:    About MalaCards
    autosomal recessive spastic paraplegia type 28    paraplegia    spasticity

    1 disease from the University of Copenhagen DISEASES database for DDHD1:
    Paraplegia

    DDHD1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): DDHD1

    Export disorders for DDHD1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for DDHD1 gene, integrated from 9 sources (see all 18):
    (articles sorted by number of sources associating them with DDHD1)
        Utopia: connect your pdf to the dynamic
    world of online information

    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. (PubMed id 11214970)1, 2, 3 Nagase T.... Ohara O. (2000)
    2. Cloning of a phosphatidic acid-preferring phospholipase A1 from bovine testis. (PubMed id 9488669)1, 2, 9 Higgs H.N.... Glomset J.A. (1998)
    3. Generation of lysophosphatidylinositol by DDHD domain containing 1 (DDHD1): Possible involvement of phospholipase D/phosphatidic aci d in the activation of DDHD1. (PubMed id 20359546)1, 3 Yamashita A....Sugiura T. (2010)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. p125 is localized in endoplasmic reticulum exit sites and involved in their organization. (PubMed id 15623529)2, 9 Shimoi W.... Tani K. (2005)
    7. Identification of 23 new prostate cancer susceptibilit y loci using the iCOGS custom genotyping array. (PubMed id 23535732)1 Eeles R.A....Easton D.F. (2013)
    8. Roles of SAM and DDHD domains in mammalian intracellul ar phospholipase A1 KIAA0725p. (PubMed id 22922100)2 Inoue H....Tani K. (2012)
    9. Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia. (PubMed id 23176821)2 Tesson C....Stevanin G. (2012)
    10. A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications. (PubMed id 21529783)4 Heath A.C....Montgomery G.W. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 80821 HGNC: 19714 AceView: DDHD1 Ensembl:ENSG00000100523 euGenes: HUgn80821
    ECgene: DDHD1 H-InvDB: DDHD1

    (According to HUGE)
    About This Section
    HUGE: KIAA1705

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for DDHD1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for DDHD1 gene:
    Search GeneIP for patents involving DDHD1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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