DEFA1 (defensin alpha 1)

2007-02-01  

Identity

HGNC
LOCATION
8p23.1
LOCUSID
ALIAS
DEF1,DEFA2,HNP-1,HP-1,HP1,MRS
FUSION GENES

Other Information

Locus ID:

NCBI: 1667
MIM: 125220
HGNC: 2761
Ensembl: ENSG00000206047

Variants:

dbSNP: 1667
ClinVar: 1667
TCGA: ENSG00000206047
COSMIC: DEFA1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000206047ENST00000382679P59665
ENSG00000206047ENST00000382692P59665

Expression (GTEx)

0
1

Pathways

PathwaySourceExternal ID
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
DefensinsREACTOMER-HSA-1461973
Alpha-defensinsREACTOMER-HSA-1462054
Antimicrobial peptidesREACTOMER-HSA-6803157
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
29972781985Defensins. Natural peptide antibiotics of human neutrophils.330
181917902008Mechanism of adenovirus neutralization by Human alpha-defensins.80
159442002005Copy number polymorphism and expression level variation of the human alpha-defensin genes DEFA1 and DEFA3.74
157190672005Dual role of alpha-defensin-1 in anti-HIV-1 innate immunity.67
202149042010Functional interaction of human neutrophil peptide-1 with the cell wall precursor lipid II.64
127108512003Antimicrobial peptides in amniotic fluid: defensins, calprotectin and bacterial/permeability-increasing protein in patients with microbial invasion of the amniotic cavity, intra-amniotic inflammation, preterm labor and premature rupture of membranes.63
177034132007alpha-Defensin inhibits influenza virus replication by cell-mediated mechanism(s).51
196408402009Through the looking glass, mechanistic insights from enantiomeric human defensins.45
157721692005Human alpha-defensins neutralize anthrax lethal toxin and protect against its fatal consequences.44
184359322008Human alpha-defensins inhibit Clostridium difficile toxin B.43

Citation

Dessen P

DEFA1 (defensin alpha 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/43620/defa1