Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



DDHD1 Gene

protein-coding   GIFtS: 51
GCID: GC14M053510

DDHD Domain Containing 1

(Previous name: spastic paraplegia 28 (autosomal recessive))
(Previous symbol: SPG28)
  See DDHD1-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

TryGeneCards Plus

Aliases
DDHD Domain Containing 11 2     PAPLA12 5
SPG281 2 5     KIAA17053 5
Spastic Paraplegia 28 (Autosomal Recessive)1 2     Phosphatidic Acid-Preferring Phospholipase A11
Phosphatidic Acid-Preferring Phospholipase A1 Homolog2 3     Phosphatidic Acid-Preferring Phospholipase A1-Like Protein2
PA-PLA12 3     Phospholipase DDHD12
DDHD Domain-Containing Protein 12 3     EC 3.1.1.-3

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

TryGeneCards Plus

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 myopathy with deficiency of iscu. GO annotations related to this gene include hydrolase activity. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000014.8  NT_026437.13  NC_018925.2  
Regulatory elements:
   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 Chromatin IP Primers for DDHD1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

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
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: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See DDHD1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000327104   ENSP00000378970   ENSP00000350401   ENSP00000450785  

    DDHD1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for DDHD1
    OriGene Protein Over-expression Lysate for DDHD1
    OriGene MassSpec for DDHD1
    OriGene Custom Protein Services for DDHD1
    GenScript Custom Purified and Recombinant Proteins Services for DDHD1
    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

     
    Search eBioscience for Proteins for DDHD1 

    DDHD1 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for DDHD1
    Novus Biologicals DDHD1 Antibodies
    Abcam antibodies for DDHD1
    Cloud-Clone Corp. Antibodies for DDHD1
    ThermoFisher Antibodies for DDHD1
    Search LSBio for Antibodies for DDHD1

    DDHD1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for DDHD1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for DDHD1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for DDHD1
    Cloud-Clone Corp. CLIAs for DDHD1
    Search eBioscience for ELISAs for DDHD1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    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


    Find genes that share domains with DDHD1           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016787hydrolase activity IEA--
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with DDHD1           About GenesLikeMe


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DDHD1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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
    Products:
        
    miRTarBase miRNAs that target DDHD1:
    hsa-mir-99a-5p (MIRT048694), hsa-mir-192-5p (MIRT026938), hsa-mir-181b-5p (MIRT047287)

    Block miRNA regulation of human, mouse, rat DDHD1 using miScript Target Protectors
    Selected qRT-PCR 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:
        
    OriGene RNAi products in human, mouse, rat for DDHD1
    Predesigned siRNA for gene silencing in human, mouse, rat DDHD1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for DDHD1

    Clone
    Products:
         
    OriGene clones in human, mouse for DDHD1 (see all 16)
    OriGene ORF clones in mouse, rat for DDHD1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): DDHD1 (NM_030637)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DDHD1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DDHD1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for DDHD1
    Browse ESI BIO Cell Lines and PureStem Progenitors for DDHD1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DDHD1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    DDHD1_HUMAN, Q8NEL9: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    nucleus2

    Gene Ontology (GO): 1 cellular component term:    About this table

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

    Find genes that share ontologies with DDHD1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DDHD1
    Interactions:

        Search GeneGlobe Interaction Network 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:    About this table

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

    Find genes that share ontologies with DDHD1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for DDHD1

    Selected 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--



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

    TryGeneCards Plus

    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:
         
    Block miRNA regulation of human, mouse, rat DDHD1 using miScript Target Protectors
    Selected qRT-PCR 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:
         
    OriGene RNAi products in human, mouse, rat for DDHD1
    Predesigned siRNA for gene silencing in human, mouse, rat DDHD1
    Clone
    Products:
         
    OriGene clones in human, mouse for DDHD1 (see all 16)
    OriGene ORF clones in mouse, rat for DDHD1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    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
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for DDHD1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DDHD1
      QuantiTect SYBR Green Assays in human, mouse, rat DDHD1
      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 

    Selected AceView cDNA sequences (see all 136):

    BQ217389 AA455622 BQ004865 AI674038 BX115266 CA391518 AA360393 BG291446 
    BG055003 BU194949 T31357 AW025272 AL704404 BU170233 AA831774 AI285854 
    BQ938304 NM_030637 AI027247 BQ723580 N72417 BC018014 CB162752 BC030703 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    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


    DDHD1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Epithelial Cells
             Outer Root Sheath Cells Outer Root Sheath
     
     Hair (Integumentary System)
             Outer Root Sheath Cells Outer Root Sheath
     
     Testis (Reproductive System)
    DDHD1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DDHD1 Protein Expression

    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

        Custom PCR Arrays for DDHD1
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for DDHD1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DDHD1
    QuantiTect SYBR Green Assays in human, mouse, rat DDHD1
    QuantiFast Probe-based Assays in human, mouse, rat DDHD1
    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

    TryGeneCards Plus

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

    Orthologs for DDHD1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ddhd11 , 5 DDHD domain containing 11, 5 86.59(n)1
    90(a)1
      14 (23.14 cM)5
    1148741  NM_001042719.21  NP_001036184.11 
     455931745 
    chicken
    (Gallus gallus)
    Aves DDHD11 DDHD domain containing 1 79.67(n)
    84.75(a)
      423592  XM_421479.4  XP_421479.4 
    lizard
    (Anolis carolinensis)
    Reptilia DDHD16
    DDHD domain containing 1
    80(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 64.65(n)
    70.61(a)
      562868  XM_005158944.1  XP_005159001.1 
    worm
    (Caenorhabditis elegans)
    Secernentea ipla-11 ipla-1 45.93(n)
    37.8(a)
      173795  NM_001129151.2  NP_001122623.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes --
    Protein with similarity to bovine phospholipase A1...
    14(a)
    1 → many
    XV(373710-375857) YOR022C


    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

    TryGeneCards Plus
    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

    Find genes that share paralogs with DDHD1           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for DDHD1 (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
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DDHD1
    DNA2.0 Custom Variant and Variant Library Synthesis for DDHD1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 614603   
    OMIM disorders: 609340  
    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

  • 2 diseases for DDHD1:    
    About MalaCards
    spastic paraplegia 28, autosomal recessive    myopathy with deficiency of iscu

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

    Find genes that share disorders with DDHD1           About GenesLikeMe

    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

    TryGeneCards Plus

    PubMed articles for DDHD1 gene, integrated from 10 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. (DNA Res. 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. (J. Biol. Chem. 1998)
    3. Generation of lysophosphatidylinositol by DDHD domain containing 1 (DDHD1): Possible involvement of phospholipase D/phosphatidic acid in the activation of DDHD1. (PubMed id 20359546)1, 3 Yamashita A....Sugiura T. (Biochim. Biophys. Acta 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. (Genome Res. 2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. p125 is localized in endoplasmic reticulum exit sites and involved in their organization. (PubMed id 15623529)2, 9 Shimoi W.... Tani K. (J. Biol. Chem. 2005)
    7. Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. (PubMed id 23535732)1 Eeles R.A....Easton D.F. (Nat. Genet. 2013)
    8. Roles of SAM and DDHD domains in mammalian intracellular phospholipase A1 KIAA0725p. (PubMed id 22922100)2 Inoue H.... Tani K. (Biochim. Biophys. Acta 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. (Am. J. Hum. Genet. 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. (Biol. Psychiatry 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 80821 HGNC: 19714 AceView: DDHD1 Ensembl:ENSG00000100523 euGenes: HUgn80821
    ECgene: DDHD1 H-InvDB: DDHD1

    (According to HUGE)
    About This Section

    TryGeneCards Plus
    HUGE: KIAA1705

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    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

    TryGeneCards Plus
    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for DDHD1  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for DDHD1  
     OriGene MassSpec something-or-other for DDHD1   OriGene clones in human, mouse for DDHD1  
     OriGene qSTAR qPCR primer pairs in human, mouse for DDHD1   OriGene Purified Protein for DDHD1  
     OriGene ORF clones in mouse, rat for DDHD1   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for DDHD1   OriGene Custom Protein Services for DDHD1  

     
     
     Block miRNA regulation of human, mouse, rat DDHD1 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing DDHD1
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DDHD1 Predesigned siRNA for gene silencing in human, mouse, rat DDHD1
     QuantiFast Probe-based Assays in human, mouse, rat DDHD1 QuantiTect SYBR Green Assays in human, mouse, rat DDHD1
     Custom PCR Arrays for DDHD1 Search Chromatin IP Primers for DDHD1
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DDHD1  Search GeneGlobe Interaction Network for DDHD1
     Regulatory tfbs in DDHD1 promoter
     GenScript Custom Purified and Recombinant Proteins Services for DDHD1 GenScript cDNA clones with any tag delivered in your preferred vector for DDHD1
     GenScript Custom Assay Services for DDHD1 GenScript Custom overexpressing Cell Line Services for DDHD1
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for DDHD1
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     DDHD1 antibodies
     DDHD1 proteins
     DDHD1 lysates
     Antibodies for DDHD1
     See all of Abcam's Antibodies, Kits and Proteins for DDHD1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for DDHD1
     Antibodies for DDHD1
     ELISAs for DDHD1
     CLIAs for DDHD1



     Browse ESI BIO Cell Lines and PureStem Progenitors for DDHD1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DDHD1
     SwitchGear 3'UTR luciferase reporter plasmids for DDHD1
     SwitchGear Promoter luciferase reporter plasmids for DDHD1
     ThermoFisher Antibodies for DDHD1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DDHD1
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DDHD1
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for DDHD1
     Search LSBio for Antibodies for DDHD1
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
     Search Addgene for plasmids for DDHD1
      Search eBioscience for proteins for DDHD1
      Search eBioscience for elisas for DDHD1
      eBioscience FlowRNA Probe Sets
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      DDHD1 gene at Home site.
    Version: 3.12.224 13 Oct 2014
    hostname: 356977-web1.xennexinc.com index build: 128 solr: 1.4