DEFA1 (defensin alpha 1)

2007-02-01  

Identity

HGNC
DEFA1
LOCATION
8p23.1
LOCUSID
1667
ALIAS
DEF1,DEFA2,HNP-1,HP-1,HP1,MRS
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
367299682023Alpha Defensin-1 Biomarker Outperforms Culture in Diagnosing Breast Implant-Related Infection: Results from a Multicenter Prospective Study.1
367299682023Alpha Defensin-1 Biomarker Outperforms Culture in Diagnosing Breast Implant-Related Infection: Results from a Multicenter Prospective Study.1
344877932022Inhibition of SARS-CoV-2 Infection by Human Defensin HNP1 and Retrocyclin RC-101.16
344877932022Inhibition of SARS-CoV-2 Infection by Human Defensin HNP1 and Retrocyclin RC-101.16
347460272021Elevated Levels of Neutrophil Activated Proteins, Alpha-Defensins (DEFA1), Calprotectin (S100A8/A9) and Myeloperoxidase (MPO) Are Associated With Disease Severity in COVID-19 Patients.23
347460272021Elevated Levels of Neutrophil Activated Proteins, Alpha-Defensins (DEFA1), Calprotectin (S100A8/A9) and Myeloperoxidase (MPO) Are Associated With Disease Severity in COVID-19 Patients.23
323023272020Opposing effects of HNP1 (α-defensin-1) on plasma cholesterol and atherogenesis.9
332944392020Alpha-Defensin versus Leukocyte Esterase in Periprosthetic Joint Infection: An Updated Meta-Analysis.5
323023272020Opposing effects of HNP1 (α-defensin-1) on plasma cholesterol and atherogenesis.9
332944392020Alpha-Defensin versus Leukocyte Esterase in Periprosthetic Joint Infection: An Updated Meta-Analysis.5
296354262018Human alpha-defensin-1 protects cells from intoxication with Clostridium perfringens iota toxin.6
297387762018Neutralization of Pseudomonas auruginosa Exotoxin A by human neutrophil peptide 1.1
299509242018Low-Copy Number Polymorphism in DEFA1/DEFA3 Is Associated with Susceptibility to Hospital-Acquired Infections in Critically Ill Patients.3
296354262018Human alpha-defensin-1 protects cells from intoxication with Clostridium perfringens iota toxin.6
297387762018Neutralization of Pseudomonas auruginosa Exotoxin A by human neutrophil peptide 1.1

Citation

Dessen P

DEFA1 (defensin alpha 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/43620/defa1-(defensin-alpha-1)