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DEFA1 Gene

protein-coding   GIFtS: 60
GCID: GC08M006835

Defensin, Alpha 1

(Previous names: defensin, alpha 2, defensin, alpha 1, myeloid-related sequence)
(Previous symbols: DEF1, MRS, DEFA2)
  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)
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Aliases
Defensin, Alpha 11 2 3     HNP-12 3
DEF11 2 3 5     HP-12 3
MRS1 2 3 5     HP12 3
DEFA21 2 3     Myeloid-Related Sequence2
Defensin, Alpha 1, Myeloid-Related Sequence1 2     Neutrophil Defensin 12
Defensin, Alpha 21 2     

External Ids:    HGNC: 27611   Entrez Gene: 16672   Ensembl: ENSG000002060477   OMIM: 1252205   UniProtKB: P596653   

Export aliases for DEFA1 gene to outside databases

Previous GC identifers: GC08M006899 GC08M007089 GC08M007014 GC08M006841 GC08M006822 GC08M006615


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for DEFA1 Gene:
Defensins are a family of microbicidal and cytotoxic peptides thought to be involved in host defense. They are
abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the
intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in
protein sequence and distinguished by a conserved cysteine motif. The protein encoded by this gene, defensin,
alpha 1, is found in the microbicidal granules of neutrophils and likely plays a role in phagocyte-mediated host
defense. Several alpha defensin genes are clustered on chromosome 8. This gene differs from defensin, alpha 3 by
only one amino acid. This gene and the gene encoding defensin, alpha 3 are both subject to copy number variation.
(provided by RefSeq, May 2010)

GeneCards Summary for DEFA1 Gene:
DEFA1 (defensin, alpha 1) is a protein-coding gene. Diseases associated with DEFA1 include ramsay-hunt syndrome, and microsporidiosis. An important paralog of this gene is DEFA1B.

UniProtKB/Swiss-Prot: DEF1_HUMAN, P59665
Function: Defensin 1 and defensin 2 have antibacterial, fungicide and antiviral activities. Has antimicrobial
activity against Gram-negative and Gram-positive bacteria. Defensins are thought to kill microbes by
permeabilizing their plasma membrane

Gene Wiki entry for DEFA1 (Defensin, alpha 1) Gene


(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)
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RefSeq DNA sequence:
NC_000008.11  NC_018919.2  NT_023736.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the DEFA1 gene promoter:
         AML1a   NCX/Ncx   c-Myb   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   NF-kappaB   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDEFA1 promoter sequence
   Search Chromatin IP Primers for DEFA1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DEFA1


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

Entrez Gene cytogenetic band: 8p23.1   Ensembl cytogenetic band:  8p23.1   HGNC cytogenetic band: 8p23.1

DEFA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DEFA1 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M006835:  view genomic region     (about GC identifiers)

Start:
6,835,171 bp from pter      End:
6,837,614 bp from pter
Size:
2,444 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: DEF1_HUMAN, P59665 (See protein sequence)
Recommended Name: Neutrophil defensin 1 precursor  
Size: 94 amino acids; 10201 Da
Subunit: Dimer
Selected PDB 3D structures from and Proteopedia for DEFA1 (see all 18):
2KHT (3D)        2PM1 (3D)        3GNY (3D)        3H6C (3D)        3HJ2 (3D)        3HJD (3D)    
Secondary accessions: P11479 Q14125 Q6EZF6

Explore the universe of human proteins at neXtProt for DEFA1: NX_P59665

Explore proteomics data for DEFA1 at MOPED

Post-translational modifications: 

  • ADP-ribosylation drastically reduces cytotoxic and antibacterial activities, and enhances IL8 production1
  • Phosphorylation at Tyr-85 has been found in some cancer cell lines, and interferes with ADP-ribosylation1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See DEFA1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004075.1  
    ENSEMBL proteins: 
     ENSP00000372139   ENSP00000372126  
    Reactome Protein details: P59665

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    DEFA: Defensins, alpha

    4 InterPro protein domains:
     IPR016327 Alpha-defensin
     IPR006080 Defensin_beta/neutrophil
     IPR006081 Mammalian_defensins
     IPR002366 Defensin_propep

    Graphical View of Domain Structure for InterPro Entry P59665

    ProtoNet protein and cluster: P59665

    1 Blocks protein domain: IPB002366 Defensin propeptide

    UniProtKB/Swiss-Prot: DEF1_HUMAN, P59665
    Similarity: Belongs to the alpha-defensin family


    DEFA1 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DEF1_HUMAN, P59665
    Function: Defensin 1 and defensin 2 have antibacterial, fungicide and antiviral activities. Has antimicrobial
    activity against Gram-negative and Gram-positive bacteria. Defensins are thought to kill microbes by
    permeabilizing their plasma membrane

         Genatlas biochemistry entry for DEFA1:
    defensin alpha 1,3-4kDa,hematopoietic ,released from azurophil granules of neutrophiles,oxygen independent
    phagocytosis of Gram+,Gram- bacteria,many fungi,some viruses

    Phenotypes:
         1 GenomeRNAi human phenotype for DEFA1:
     Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DEFA1
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    miRNA
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    miRTarBase miRNAs that target DEFA1:
    hsa-mir-26b-5p (MIRT028873)

    Block miRNA regulation of human, mouse, rat DEFA1 using miScript Target Protectors
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    SwitchGear 3'UTR luciferase reporter plasmidDEFA1 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    DEF1_HUMAN, P59665: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    golgi apparatus4
    lysosome4
    vacuole4
    plasma membrane1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region ----
    GO:0005615extracellular space ----
    GO:0005796Golgi lumen ----
    GO:0031012extracellular matrix ----
    GO:0035578azurophil granule lumen ----

    DEFA1 for ontologies           About GeneDecksing


    (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).
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    SuperPaths for DEFA1 About    
    See pathways by source

    SuperPathContained pathways About
    1Defensins
    Defensins0.80
    Alpha-defensins0.00
    2Selected targets of C EBPalpha
    Selected targets of C EBPalpha
    3Cellular roles of Anthrax toxin
    Cellular roles of Anthrax toxin

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for DEFA1
        Cellular roles of Anthrax toxin


    2 Reactome Pathways for DEFA1
        Defensins
    Alpha-defensins



    DEFA1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DEFA1
    Interactions:

        Search GeneGlobe Interaction Network for DEFA1

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    Selected Interacting proteins for DEFA1 (P596652, 3 ENSP000003721264) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GSK3BP498412, 3MINT-8257086 I2D: score=2 
    C1QBP027463, ENSP000003139674I2D: score=1 STRING: ENSP00000313967
    DEFA3P596663, ENSP000003283594I2D: score=1 STRING: ENSP00000328359
    SERPINF2P086973, ENSP000003218534I2D: score=1 STRING: ENSP00000321853
    PFDN1O609253I2D: score=3 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006935chemotaxis ----
    GO:0006952defense response ----
    GO:0006955immune response ----
    GO:0031640killing of cells of other organism ----
    GO:0042742defense response to bacterium ----

    DEFA1 for ontologies           About GeneDecksing



    (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)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for DEFA1 (DEF1)

    9 Novoseek inferred chemical compound relationships for DEFA1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hbd2 82 10 18852241 (2), 19079820 (1), 20020833 (1), 18219831 (1) (see all 5)
    adpribose 32.9 1 19897717 (1)
    protamine 31.8 11 1717840 (3), 2370044 (1), 9808583 (1)
    rantes 9.75 3 16362266 (2), 15929698 (1)
    nacl 7.76 2 10738945 (2)
    lipid 0 2 20097206 (1), 10933095 (1)
    glucose 0 6 18347011 (4)
    anti-fungal 0 1 16377704 (1)
    glutamate 0 6 17606342 (2)



    DEFA1 for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for DEFA1 gene: 
    NM_004084.3  

    Unigene Cluster for DEFA1:

    Defensin, alpha 1
    Hs.380781  [show with all ESTs]
    Unigene Representative Sequence: BX427054
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000382692(uc003wqv.1) ENST00000382679
    miRNA
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DEFA1
    Primer
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    OriGene qPCR primer pairs and template standards for DEFA1
    OriGene qSTAR qPCR primer pairs in human, mouse for DEFA1
    Search Pre-validated RT2 qPCR Primer Assays in human, mouse, rat DEFA1
      QuantiTect SYBR Green Assays in human, mouse, rat DEFA1
      QuantiFast Probe-based Assays in human, mouse, rat DEFA1

    Additional mRNA sequence: 

    BC069423.1 BC093791.1 BC112188.1 M21130.1 M26602.1 X52053.1 

    6 DOTS entries:

    DT.87017167  DT.121471111  DT.40131822  DT.121471118  DT.91893655  DT.97857951 

    Selected AceView cDNA sequences (see all 377):

    AW467613 BC069423 BE831405 AW291977 AJ705663 BE831314 BE831411 BE831407 
    BE831385 AJ713328 AW468012 BE831404 BE831397 AW950276 AA321316 AA321190 
    AW440905 BE831369 BE831398 BP429396 AA321199 AW274523 M21130 AW236257 

    GeneLoc Exon Structure


    (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)
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    DEFA1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCTGCTATT
    DEFA1 Expression
    About this image


    DEFA1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Lung (Respiratory System)
    DEFA1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DEFA1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.380781
        Custom PCR Arrays for DEFA1
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    In Situ
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    (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)
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    This gene was present in the common ancestor of human and mouse.

    Orthologs for DEFA1 gene from 1 species (see representative species )    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Defa15 defensin, alpha 1   --   8 -


    ENSEMBL Gene Tree for DEFA1 (if available)
    TreeFam Gene Tree for DEFA1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DEFA1 gene
    DEFA1B1 2  DEFA31 2  DEFA62  DEFA42  DEFA52  
    5 SIMAP similar genes for DEFA1 using alignment to 1 protein entry:     DEF1_HUMAN:
    DEFA3    DEFA4    DEFA5    DEFA6    Em

    DEFA1 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), 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)
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    Selected SNPs for DEFA1 (see all 53)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1995510411,2
    C--6834847(+) GATGG-/TTTTTT 1 -- ds50010--------
    rs1429635431,2
    C--6837035(+) GCAATA/GAAAGG 1 -- int10--------
    rs582181361,2
    C--6837160(+) ATGGCA/CGAAGG 1 -- int11Minor allele frequency- C:0.00WA 2
    rs24722401,2
    C,A--6837233(-) TCTGTC/TTTTCA 1 -- int10--------
    rs2002451281,2
    C--6837272(+) AGAATA/GTTCCA 1 -- int10--------
    rs1498074941,2
    C--6837290(+) GTGATA/GGTCTC 1 -- int10--------
    rs589554511,2
    C,F--6837331(+) TGTGTA/GTTTAG 1 -- int17Minor allele frequency- G:0.24WA NA CSA 249
    rs560931951,2
    C--6837431(+) GATTCA/GCCCGC 1 -- int10--------
    rs590877471,2
    C--6837440(+) GCTGGG/TTCCCT 1 -- int10--------
    rs607095801,2
    C--6837452(+) TGGGGC/TGGCCC 1 -- int10--------

    HapMap Linkage Disequilibrium report for DEFA1 (6835171 - 6837614 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for DEFA1 (see all 29):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv435861CNV Deletion17901297
    esv2736554CNV Deletion23290073
    nsv820476CNV Duplication20802225
    nsv471499CNV Duplication19718026
    nsv509248CNV Insertion20534489
    nsv6064CNV Insertion18451855
    nsv890070CNV Loss21882294
    nsv437041CNV Loss16327808
    nsv6060CNV Loss18451855
    nsv21CNV Loss15895083

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DEFA1
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 125220    OMIM disorders: --

    Selected diseases for DEFA1 (see all 47):    
    About MalaCards
    ramsay-hunt syndrome    microsporidiosis    bell's palsy    multidrug-resistant tuberculosis
    chronic myelomonocytic leukemia    chronic venous leg ulcers    bacterial vaginosis    leukoplakia
    vaginitis    oral squamous cell carcinoma    influenza    tuberculosis
    tonsillitis    behcet's disease    periodontal disease    chronic myeloid leukemia
    cystic fibrosis    lung adenocarcinoma    rhinitis    allergic rhinitis


    DEFA1 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for DEFA1 gene (see all 15)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    bronchoalveolar lavage fluid 51 3 19897717 (1), 12488509 (1), 16627471 (1)
    leukoplakia 33.5 2 10522210 (2)
    fibrosis idiopathic pulmonary 30.2 2 19897717 (1), 16627471 (1)
    inflammation 25.1 5 15843081 (1), 16002632 (1), 17599740 (1), 11860065 (1)
    cystic fibrosis 24.9 1 16627471 (1)
    bacterial infections 11.8 1 9788972 (1)
    metastasis 5.28 1 10910038 (1)
    tuberculosis 3.18 6 11158773 (3), 15378441 (1), 10382264 (1), 10933095 (1)
    stroke 1.89 8 20090554 (2), 18757238 (2), 17761925 (1), 20374070 (1) (see all 7)
    carcinoma squamous cell 1.44 7 9891534 (2), 16483834 (2), 10522210 (1), 15519138 (1) (see all 5)

    Genetic Association Database (GAD): DEFA1
    Human Genome Epidemiology (HuGE) Navigator: DEFA1 (1 document)

    Export disorders for DEFA1 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)
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    PubMed articles for DEFA1 gene, integrated from 10 sources (see all 219):
    (articles sorted by number of sources associating them with DEFA1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Inheritance of unequal numbers of the genes encoding the human neutrophil defensins HP-1 and HP-3. (PubMed id 8530462)1, 2, 9 Mars W.M....Saunders G.F. (J. Biol. Chem. 1995)
    2. Copy number polymorphism and expression level variation of the human alpha-defensin genes DEFA1 and DEFA3. (PubMed id 15944200)1, 3, 9 Aldred P.M....Armour J.A. (Hum. Mol. Genet. 2005)
    3. NMR studies of defensin antimicrobial peptides. 1. Resonance assignment and secondary structure determination of rabbit NP-2 and human HNP-1. (PubMed id 1445872)1, 2, 9 Zhang X.-L.... Pardi A. (Biochemistry 1992)
    4. The structure of neutrophil defensin genes. (PubMed id 8477861)1, 2, 9 Linzmeier R.... Ganz T. (FEBS Lett. 1993)
    5. Increased genomic copy number of DEFA1/DEFA3 is associated with susceptibility to severe sepsis in Chinese Han population. (PubMed id 20502117)1, 4 Chen Q....Fang X. (Anesthesiology 2010)
    6. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PubMed id 15340161)1, 2 Zhang Z. and Henzel W.J. (Protein Sci. 2004)
    7. 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)
    8. Fragile X mental retardation protein: nucleocytoplasmic shuttling and association with somatodendritic ribosomes. (PubMed id 9030614)1, 3 Feng Y....Hersch S.M. (J. Neurosci. 1997)
    9. The structure of neutrophil defensin genes. (PubMed id 8325384)1, 2 Linzmeier R....Ganz T. (FEBS Lett. 1993)
    10. Posttranslational processing of defensins in immature human myeloid cells. (PubMed id 1339298)1, 2 Valore E.V. and Ganz T. (Blood 1992)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
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      (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)
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    Entrez Gene: 1667 HGNC: 2761 AceView: DEFA1andDEFA3 Ensembl:ENSG00000206047 euGenes: HUgn1667
    ECgene: DEFA1 H-InvDB: DEFA1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for DEFA1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for DEFA1 gene:
    Search GeneIP for patents involving DEFA1

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



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