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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
  • MRS 3 4
  • HP1 3 4
  • Myeloid-Related Sequence 3
  • Neutrophil Defensin 1 3

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]

CIViC summary for DEFA1 Gene

GeneCards Summary for DEFA1 Gene

DEFA1 (Defensin Alpha 1) is a Protein Coding gene. Diseases associated with DEFA1 include Oral Candidiasis and West Nile Fever. Among its related pathways are Defensins and Cellular roles of Anthrax toxin. An important paralog of this gene is DEFA1B.

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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for DEFA1 Gene

Promoters and enhancers for DEFA1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J006980 Promoter 0.5 EPDnew 650.7 +0.0 13 0.1 DEFA1 DEFA10P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DEFA1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DEFA1 gene promoter:
  • NF-kappaB1
  • NF-kappaB
  • AML1a
  • c-Myb
  • NCX
  • POU3F2 (N-Oct-5b)
  • POU3F2 (N-Oct-5a)

Genomic Locations for DEFA1 Gene

Genomic Locations for DEFA1 Gene
2,474 bases
Minus strand
2,444 bases
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:
    Recommended name:
    Neutrophil defensin 1
    Protein Accession:
    Secondary Accessions:
    • P11479
    • Q14125
    • Q6EZF6
    • P11479
    • Q14125
    • Q6EZF6

    Protein attributes for DEFA1 Gene

    94 amino acids
    Molecular mass:
    10201 Da
    Quaternary structure:
    • Dimer (PubMed:17452329). Interacts with RETN (PubMed:15064728).
    • Dimer (PubMed:17452329). Interacts with RETN (PubMed:15064728).

    Three dimensional structures from OCA and Proteopedia for DEFA1 Gene

neXtProt entry for DEFA1 Gene

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:

No data available for DME Specific Peptides for DEFA1 Gene

Domains & Families for DEFA1 Gene

Gene Families for DEFA1 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Plasma proteins
  • Predicted secreted proteins
  • Transporters

Protein Domains for DEFA1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the alpha-defensin 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

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.
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

Phenotypes From GWAS Catalog for DEFA1 Gene

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

miRNA for DEFA1 Gene

miRTarBase miRNAs that target DEFA1

Clone Products

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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DEFA1 gene
Compartment Confidence
extracellular 5
lysosome 4
golgi apparatus 4
nucleus 1

Gene Ontology (GO) - Cellular Components for DEFA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA 12860195
GO:0005796 Golgi lumen TAS --
GO:0031012 extracellular matrix IDA 27559042
GO:0035578 azurophil granule lumen TAS --
genes like me logo Genes that share ontologies with DEFA1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DEFA1 Gene

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

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:0006952 defense response IEA --
GO:0006955 immune response TAS 10914484
GO:0010818 T cell chemotaxis IDA 17088326
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

(3) Drugs for DEFA1 Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
2-[(Formyl-Hydroxy-Amino)-Methyl]-Heptanoic Acid [1-(2-Hydroxymethyl-Pyrrolidine-1-Carbonyl)-2-Methyl-Propyl]-Amide Experimental Pharma Target 0

(7) 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

mRNA/cDNA for DEFA1 Gene

(2) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(377) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for DEFA1 Gene

Defensin, alpha 1:
Representative Sequences:

Clone Products

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

No ASD Table

Relevant External Links for DEFA1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for DEFA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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

Protein tissue co-expression partners for DEFA1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DEFA1 Gene:


SOURCE GeneReport for Unigene cluster for DEFA1 Gene:


Evidence on tissue expression from TISSUES for DEFA1 Gene

  • Blood(4.7)
  • Liver(4.1)
genes like me logo Genes that share expression patterns with DEFA1: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
(Pan troglodytes)
Mammalia DEFA4 34
  • 68 (a)
Species where no ortholog for DEFA1 was found in the sources mined by GeneCards:
  • 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

Gene Tree for DEFA1 (if available)
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 Variation AA Info Type
rs1000450787 -- 6,979,988(-) A/G intron_variant
rs1000742250 -- 6,981,886(-) C/T upstream_transcript_variant
rs1009966938 -- 6,979,735(-) T/G intron_variant
rs1020397770 -- 6,979,765(-) G/C intron_variant
rs1024332274 -- 6,980,357(-) G/A upstream_transcript_variant

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

Variant ID Type Subtype PubMed ID
dgv11907n54 CNV loss 21841781
dgv11908n54 CNV gain 21841781
dgv11910n54 CNV loss 21841781
dgv2032e212 CNV loss 25503493
dgv2033e212 CNV loss 25503493
dgv2034e212 CNV loss 25503493
dgv3758n106 CNV deletion 24896259
dgv6878n100 CNV gain 25217958
dgv6879n100 CNV gain 25217958
dgv6880n100 CNV loss 25217958
dgv6881n100 CNV gain 25217958
dgv6882n100 CNV gain 25217958
esv21544 CNV gain+loss 19812545
esv2736554 CNV deletion 23290073
esv2752262 CNV gain 17911159
esv2759589 CNV gain+loss 17122850
esv2764122 CNV loss 21179565
esv3358388 CNV duplication 20981092
esv3378620 CNV duplication 20981092
esv3412390 CNV duplication 20981092
esv3576520 CNV gain 25503493
nsv1015244 CNV gain 25217958
nsv1031577 CNV gain 25217958
nsv1141567 CNV duplication 24896259
nsv1151676 CNV deletion 26484159
nsv21 CNV deletion 15895083
nsv428194 CNV gain+loss 18775914
nsv435861 CNV deletion 17901297
nsv437041 CNV loss 16327808
nsv465436 CNV gain 19166990
nsv471499 CNV gain 19718026
nsv482118 CNV gain 20164927
nsv509248 CNV insertion 20534489
nsv515096 CNV gain 21397061
nsv527917 CNV gain 19592680
nsv528374 CNV gain 19592680
nsv6060 CNV deletion 18451855
nsv610006 CNV gain 21841781
nsv610010 CNV gain 21841781
nsv610018 CNV loss 21841781
nsv610025 CNV loss 21841781
nsv820476 CNV duplication 20802225
nsv8278 CNV gain+loss 18304495
nsv831221 CNV gain 17160897
nsv950282 CNV duplication 24416366
nsv967552 CNV duplication 23825009
nsv981903 CNV duplication 23825009

Additional Variant Information for DEFA1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

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

(7) MalaCards diseases for DEFA1 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
oral candidiasis
  • candidiasis of mouth
west nile fever
mite infestation
  • mite infestations
  • infection by microspora
bell's palsy
  • bell palsy
- elite association - COSMIC cancer census association via MalaCards
Search DEFA1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DEFA1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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. Copy number polymorphism and expression level variation of the human alpha-defensin genes DEFA1 and DEFA3. (PMID: 15944200) Aldred PM … Armour JA (Human molecular genetics 2005) 2 3 22 58
  2. Inheritance of unequal numbers of the genes encoding the human neutrophil defensins HP-1 and HP-3. (PMID: 8530462) Mars WM … Saunders GF (The Journal of biological chemistry 1995) 3 4 22 58
  3. NMR studies of defensin antimicrobial peptides. 1. Resonance assignment and secondary structure determination of rabbit NP-2 and human HNP-1. (PMID: 1445872) Zhang XL … Pardi A (Biochemistry 1992) 3 4 22 58
  4. Cyclic and acyclic defensins inhibit human immunodeficiency virus type-1 replication by different mechanisms. (PMID: 20305815) Seidel A … Camerini D (PloS one 2010) 3 22 58
  5. Increased genomic copy number of DEFA1/DEFA3 is associated with susceptibility to severe sepsis in Chinese Han population. (PMID: 20502117) Chen Q … Fang X (Anesthesiology 2010) 3 44 58

Products for DEFA1 Gene

Sources for DEFA1 Gene

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