Gene: DEFA1

1667
DEF1|DEFA2|HNP-1|HP-1|HP1|MRS
defensin alpha 1
protein-coding
8p23.1
Ensembl:ENSG00000206047 MIM:125220 Vega:OTTHUMG00000154594 UniprotKB:P59665
NC_000008.11
PubMed
0   ANCO-SNPs
ND
1   
NA (AD)  NA (ND)   (Frontal_Cortex)
9.389e-2 (AD)  2.099e-1 (ND)

DNA Methylation

There is no related methylation information for this gene.

Gene Expression in Different Tissues

Temporal and Spatial Expressions (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes average value of the expressions.

Top Co-expressed Genes in Brain-Frontal Cortex (BA9) (GTEx v7)

Top 10 positively co-expressed genes

Gene Symbol Pearson Correlation Coefficient
BMP100.583
SBK20.576
MYL40.534
MYH60.534
ITLN10.521
PRAMEF190.521
SLC16A130.512
SPANXN20.512
PRND0.505
DEFA1B0.497

Top 10 negatively co-expressed genes

Gene Symbol Pearson Correlation Coefficient
LRRC38-0.229
LHX6-0.22
GDPD5-0.216
MEPE-0.214
SULF1-0.206
KCNS3-0.201
HS3ST2-0.2
GEMIN6-0.2
TACR1-0.198
DEPDC1-0.195

Drugs/Compounds

    There is no DrugBank record for this gene !

ID Drug Name Action PubMed
C0859112-(4-morpholinyl)-8-phenyl-4H-1-benzopyran-4-one2-(4-morpholinyl)-8-phenyl-4H-1-benzopyran-4-one inhibits the reaction [DEFA1 protein results in decreased phosphorylation of and results in increased activity of CTNNB1 protein]19814765
C0859112-(4-morpholinyl)-8-phenyl-4H-1-benzopyran-4-one2-(4-morpholinyl)-8-phenyl-4H-1-benzopyran-4-one inhibits the reaction [DEFA1 protein results in increased phosphorylation of AKT1 protein]19814765
C0859112-(4-morpholinyl)-8-phenyl-4H-1-benzopyran-4-one2-(4-morpholinyl)-8-phenyl-4H-1-benzopyran-4-one inhibits the reaction [DEFA1 protein results in increased phosphorylation of GSK3B protein]19814765
D016604Aflatoxin B1Aflatoxin B1 results in increased methylation of DEFA1 gene27153756
C006632arsenic trioxidearsenic trioxide results in increased expression of DEFA1 mRNA15070760|1576101
D004041Dietary FatsDietary Fats results in increased expression of DEFA1 mRNA25016146
C051890irinotecanirinotecan metabolite results in decreased expression of DEFA1 mRNA15956246
C051890irinotecanirinotecan results in decreased expression of DEFA1 mRNA15956246
D015735MifepristoneMifepristone results in decreased expression of DEFA1 protein17701593
D011374ProgesteroneProgesterone results in increased expression of DEFA1 mRNA17701593
D011374ProgesteroneProgesterone results in increased expression of DEFA1 protein17701593
D011794QuercetinQuercetin inhibits the reaction [DEFA1 protein results in decreased phosphorylation of and results in increased activity of CTNNB1 protein]19814765
D011794QuercetinQuercetin inhibits the reaction [DEFA1 protein results in increased expression of COL1A1 mRNA]19814765
D011794QuercetinQuercetin inhibits the reaction [DEFA1 protein results in increased secretion of COL1A1 protein]19814765
C093642SB 203580SB 203580 inhibits the reaction [DEFA1 protein results in decreased phosphorylation of and results in increased activity of CTNNB1 protein]19814765
C093642SB 203580SB 203580 inhibits the reaction [DEFA1 protein results in increased phosphorylation of GSK3B protein]19814765
D013749TetrachlorodibenzodioxinTetrachlorodibenzodioxin affects the expression of DEFA1 mRNA21570461|2637764
D014212TretinoinTretinoin results in increased expression of DEFA1 mRNA16140955|1721838
D014635Valproic AcidValproic Acid results in increased methylation of DEFA1 gene29154799
D014635Valproic AcidValproic Acid affects the expression of DEFA1 mRNA17292431

GO/Pathway

GO ID GO Term Qualifier Evidence PubMed
GO ID GO Term Qualifier Evidence PubMed
GO:0002227innate immune response in mucosa-IBA21873635  
GO:0002227innate immune response in mucosa-IDA12860195  
GO:0006935chemotaxis-TAS10914484  
GO:0006955immune response-TAS10914484  
GO:0010818T cell chemotaxis-IDA17088326  
GO:0019730antimicrobial humoral response-TAS-  
GO:0019731antibacterial humoral response-IBA21873635  
GO:0019731antibacterial humoral response-IDA12860195  
GO:0030520intracellular estrogen receptor signaling pathway-IDA21861873  
GO:0031640killing of cells of other organism-IDA17088326  
GO:0042832defense response to protozoan-IMP17635867  
GO:0043312neutrophil degranulation-TAS-  
GO:0044657pore formation in membrane of other organism during symbiotic interaction-IDA17635867  
GO:0050829defense response to Gram-negative bacterium-IBA21873635  
GO:0050830defense response to Gram-positive bacterium-IBA21873635  
GO:0050830defense response to Gram-positive bacterium-IDA12860195  
GO:0050832defense response to fungus-IEA-  
GO:0051607defense response to virus-IEA-  
GO:0051673membrane disruption in other organism-IBA21873635  
GO:0051852disruption by host of symbiont cells-IDA17635867  
GO:0061844antimicrobial humoral immune response mediated by antimicrobial peptide-IBA21873635  
GO:0061844antimicrobial humoral immune response mediated by antimicrobial peptide-IC17088326  
GO:0061844antimicrobial humoral immune response mediated by antimicrobial peptide-IDA12860195  
GO:0061844antimicrobial humoral immune response mediated by antimicrobial peptide-IMP17635867  
GO:0071222cellular response to lipopolysaccharide-IBA21873635  
GO ID GO Term Qualifier Evidence PubMed
GO:0005576extracellular region-TAS-  
GO:0005615extracellular space-HDA16502470  
GO:0005615extracellular space-IBA21873635  
GO:0005615extracellular space-IDA12860195  21861873  
GO:0005796Golgi lumen-TAS-  
GO:0035578azurophil granule lumen-TAS-  
GO:0062023collagen-containing extracellular matrix-HDA27559042  
GO:0062023collagen-containing extracellular matrixcolocalizes_withHDA20551380  
GO:0070062extracellular exosome-HDA19199708  23533145  
KEGG ID KEGG Term
Reactome ID Reactome Term Evidence
R-HSA-1461973DefensinsTAS
R-HSA-1462054Alpha-defensinsTAS
R-HSA-168249Innate Immune SystemTAS
R-HSA-168256Immune SystemTAS
R-HSA-6798695Neutrophil degranulationTAS
R-HSA-6803157Antimicrobial peptidesTAS

Interactions (STRING v10.5, Interaction Score >= 0.400)

Publications (Co-occurrence of gene symbol strings and ANCO-Dependence terms)

PMID Title (Year) Author Journal
17303777Alpha defensins 1, 2, and 3: potential roles in dyslipidemia and vascular dysfunction in humans. (2007 May)Lopez-Bermejo AArterioscler Thromb Vasc Biol