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Aliases for DEFA1 Gene

Aliases for DEFA1 Gene

  • Defensin Alpha 1 2 3 5
  • Defensin, Alpha 1, Myeloid-Related Sequence 2 3
  • Defensin, Alpha 2 2 3
  • Defensin, Alpha 1 2 4
  • DEFA2 3 4
  • HNP-1 3 4
  • DEF1 3 4
  • HP-1 3 4
  • HP1 3 4
  • MRS 3 4
  • Myeloid-Related Sequence 3
  • DEFA1 DEFA1B 4

External Ids for DEFA1 Gene

Previous HGNC Symbols for DEFA1 Gene

  • DEF1
  • MRS
  • DEFA2

Previous GeneCards Identifiers for DEFA1 Gene

  • GC08M006899
  • GC08M007089
  • GC08M007014
  • GC08M006841
  • GC08M006822
  • GC08M006615
  • GC08M006835

Summaries for DEFA1 Gene

Entrez Gene Summary for DEFA1 Gene

  • Defensins are a family of antimicrobial 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, Oct 2014]

GeneCards Summary for DEFA1 Gene

DEFA1 (Defensin Alpha 1) is a Protein Coding gene. Diseases associated with DEFA1 include Bell's Palsy and Multidrug-Resistant Tuberculosis. Among its related pathways are Immune System and Defensins. An important paralog of this gene is DEFA3.

UniProtKB/Swiss-Prot for DEFA1 Gene

  • 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 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DEFA1 Gene

Genomics for DEFA1 Gene

Regulatory Elements for DEFA1 Gene

Enhancers for DEFA1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around DEFA1 on UCSC Golden Path with GeneCards custom track

Genomic Location for DEFA1 Gene

Chromosome:
8
Start:
6,977,649 bp from pter
End:
6,980,122 bp from pter
Size:
2,474 bases
Orientation:
Minus strand

Genomic View for DEFA1 Gene

Genes around DEFA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DEFA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DEFA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DEFA1 Gene

Proteins for DEFA1 Gene

  • Protein details for DEFA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P59665-DEF1_HUMAN
    Recommended name:
    Neutrophil defensin 1
    Protein Accession:
    P59665
    Secondary Accessions:
    • P11479
    • Q14125
    • Q6EZF6

    Protein attributes for DEFA1 Gene

    Size:
    94 amino acids
    Molecular mass:
    10201 Da
    Quaternary structure:
    • Dimer.
    • Dimer.

    Three dimensional structures from OCA and Proteopedia for DEFA1 Gene

neXtProt entry for DEFA1 Gene

Proteomics data for DEFA1 Gene at MOPED

Post-translational modifications for DEFA1 Gene

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

Other Protein References for DEFA1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for DEFA1 (alpha-Defensin 1)

No data available for DME Specific Peptides for DEFA1 Gene

Domains & Families for DEFA1 Gene

Gene Families for DEFA1 Gene

Protein Domains for DEFA1 Gene

Graphical View of Domain Structure for InterPro Entry

P59665

UniProtKB/Swiss-Prot:

DEF1_HUMAN :
  • Belongs to the alpha-defensin family.
Family:
  • Belongs to the alpha-defensin family.
genes like me logo Genes that share domains with DEFA1: view

No data available for Suggested Antigen Peptide Sequences for DEFA1 Gene

Function for DEFA1 Gene

Molecular function for DEFA1 Gene

GENATLAS Biochemistry:
defensin alpha 1,3-4kDa,hematopoietic ,released from azurophil granules of neutrophiles,oxygen independent phagocytosis of Gram+,Gram- bacteria,many fungi,some viruses
UniProtKB/Swiss-Prot 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.
genes like me logo Genes that share phenotypes with DEFA1: view

Animal Model Products

miRNA for DEFA1 Gene

miRTarBase miRNAs that target DEFA1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DEFA1 Gene

Localization for DEFA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DEFA1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DEFA1 Gene COMPARTMENTS Subcellular localization image for DEFA1 gene
Compartment Confidence
extracellular 5
golgi apparatus 4
lysosome 4
vacuole 4

Gene Ontology (GO) - Cellular Components for DEFA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005796 Golgi lumen TAS --
GO:0031012 colocalizes_with extracellular matrix IDA 20551380
GO:0070062 extracellular exosome IDA 19199708
genes like me logo Genes that share ontologies with DEFA1: view

Pathways & Interactions for DEFA1 Gene

genes like me logo Genes that share pathways with DEFA1: view

Pathways by source for DEFA1 Gene

1 BioSystems pathway for DEFA1 Gene
4 Reactome pathways for DEFA1 Gene

Interacting Proteins for DEFA1 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000372126%0d%0a9606.ENSP00000328359%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: P59665-DEF1_HUMAN ENSP00000372126 for DEFA1 Gene via MINT STRING I2D

Gene Ontology (GO) - Biological Process for DEFA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002227 innate immune response in mucosa IDA 12860195
GO:0006935 chemotaxis TAS 10914484
GO:0006955 immune response TAS 10914484
GO:0030520 intracellular estrogen receptor signaling pathway IDA 21861873
GO:0031640 killing of cells of other organism IEA --
genes like me logo Genes that share ontologies with DEFA1: view

No data available for SIGNOR curated interactions for DEFA1 Gene

Drugs & Compounds for DEFA1 Gene

(9) Additional Compounds for DEFA1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with DEFA1: view

Transcripts for DEFA1 Gene

Unigene Clusters for DEFA1 Gene

Defensin, alpha 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DEFA1 Gene

No ASD Table

Relevant External Links for DEFA1 Gene

GeneLoc Exon Structure for
DEFA1
ECgene alternative splicing isoforms for
DEFA1

Expression for DEFA1 Gene

mRNA expression in normal human tissues for DEFA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DEFA1 Gene

This gene is overexpressed in Whole Blood (x48.1).

Protein differential expression in normal tissues from HIPED for DEFA1 Gene

This gene is overexpressed in Neutrophil (34.0) and Blymphocyte (15.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DEFA1 Gene



SOURCE GeneReport for Unigene cluster for DEFA1 Gene Hs.380781

genes like me logo Genes that share expression patterns with DEFA1: view

Protein tissue co-expression partners for DEFA1 Gene

- Elite partner

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for DEFA1 Gene

Orthologs for DEFA1 Gene

This gene was present in the common ancestor of human and chimp.

Orthologs for DEFA1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DEFA4 36
  • 68 (a)
OneToMany
Species with no ortholog for DEFA1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for DEFA1 Gene

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

Paralogs for DEFA1 Gene

Paralogs for DEFA1 Gene

(5) SIMAP similar genes for DEFA1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with DEFA1: view

Variants for DEFA1 Gene

Sequence variations from dbSNP and Humsavar for DEFA1 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs2472240 -- 6,979,711(-) TCTGT(C/T)TTTCA intron-variant
rs2951835 -- 6,980,425(+) TATAC(A/G)CCCTG upstream-variant-2KB
rs2978854 -- 6,980,417(-) ATACT(A/G)TGATA upstream-variant-2KB
rs3817696 -- 6,977,983(-) CTGCA(A/G)TGCAG intron-variant
rs4840655 -- 6,977,992(+) AGCCG(G/T)TAGCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DEFA1 Gene

Variant ID Type Subtype PubMed ID
nsv465436 CNV Gain 19166990
esv2752262 CNV Gain 17911159
dgv7656n71 CNV Gain 21882294
dgv7657n71 CNV Gain 21882294
nsv428194 CNV Gain+Loss 18775914
nsv528374 CNV Gain 19592680
dgv2190e1 CNV Complex 17122850
essv14510 CNV CNV 17122850
dgv2191e1 CNV Complex 17122850
nsv831221 CNV Gain 17160897
nsv509248 CNV Insertion 20534489
nsv890068 CNV Gain 21882294
nsv6060 CNV Loss 18451855
nsv21 CNV Loss 15895083
nsv890069 CNV Gain 21882294
nsv527917 CNV Gain 19592680
esv21544 CNV Gain+Loss 19812545
nsv820476 CNV Duplication 20802225
nsv8278 CNV Gain+Loss 18304495
nsv515096 CNV Complex 21397061
nsv471499 CNV Duplication 19718026
nsv437041 CNV Loss 16327808
esv2736554 CNV Deletion 23290073
nsv435861 CNV Deletion 17901297
nsv482118 CNV Gain 20164927
nsv6064 CNV Insertion 18451855
nsv890070 CNV Loss 21882294
nsv890071 CNV Gain 21882294
nsv482119 CNV Gain 20164927

Relevant External Links for DEFA1 Gene

Human Gene Mutation Database (HGMD)
DEFA1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for DEFA1 Gene

Disorders for DEFA1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for DEFA1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
bell's palsy
  • bell palsy
multidrug-resistant tuberculosis
  • tuberculosis multidrug-resistant
microsporidiosis
  • infection by microspora
- elite association - COSMIC cancer census association via MalaCards
Search DEFA1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for DEFA1

Genetic Association Database (GAD)
DEFA1
Human Genome Epidemiology (HuGE) Navigator
DEFA1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DEFA1
genes like me logo Genes that share disorders with DEFA1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DEFA1 Gene

Publications for DEFA1 Gene

  1. Inheritance of unequal numbers of the genes encoding the human neutrophil defensins HP-1 and HP-3. (PMID: 8530462) Mars W.M. … Saunders G.F. (J. Biol. Chem. 1995) 3 4 23 67
  2. Copy number polymorphism and expression level variation of the human alpha-defensin genes DEFA1 and DEFA3. (PMID: 15944200) Aldred P.M. … Armour J.A. (Hum. Mol. Genet. 2005) 2 3 23
  3. 3D (13)C-(13)C-(13)C correlation NMR for de novo distance determination of solid proteins and application to a human alpha-defensin. (PMID: 19963419) Li S. … Hong M. (J. Magn. Reson. 2010) 3 23
  4. Resonance assignment and three-dimensional structure determination of a human alpha-defensin, HNP-1, by solid-state NMR. (PMID: 20097206) Zhang Y. … Hong M. (J. Mol. Biol. 2010) 3 23
  5. Cyclic and acyclic defensins inhibit human immunodeficiency virus type-1 replication by different mechanisms. (PMID: 20305815) Seidel A. … Camerini D. (PLoS ONE 2010) 3 23

Products for DEFA1 Gene

Sources for DEFA1 Gene

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