Details for: DEFA1

Gene ID: 1667

Symbol: DEFA1

Ensembl ID: ENSG00000206047

Description: defensin alpha 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: CD8-positive, alpha-beta thymocyte (CL0000811)
    Fold Change: 12.7416
    Cell Significance Index: 117.9200
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.7769
    Cell Significance Index: 11.2800
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.6831
    Cell Significance Index: 7.3500
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: 0.5041
    Cell Significance Index: 8.6900
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: 0.2501
    Cell Significance Index: 3.6600
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.1318
    Cell Significance Index: 1.6300
  • Cell Name: plasmacytoid dendritic cell (CL0000784)
    Fold Change: 0.0568
    Cell Significance Index: 0.7500
  • Cell Name: immature alpha-beta T cell (CL0000790)
    Fold Change: 0.0537
    Cell Significance Index: 0.4000
  • Cell Name: mature alpha-beta T cell (CL0000791)
    Fold Change: 0.0147
    Cell Significance Index: 0.0800
  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 0.0000
    Cell Significance Index: 0.0000
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: -0.0058
    Cell Significance Index: -0.0800
  • Cell Name: granulocyte (CL0000094)
    Fold Change: -0.0182
    Cell Significance Index: -0.2200
  • Cell Name: T cell (CL0000084)
    Fold Change: -0.0195
    Cell Significance Index: -0.2300
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: -0.0233
    Cell Significance Index: -0.2600
  • Cell Name: immature neutrophil (CL0000776)
    Fold Change: -0.0308
    Cell Significance Index: -0.2400
  • Cell Name: lymphocyte (CL0000542)
    Fold Change: -0.0323
    Cell Significance Index: -0.4400
  • Cell Name: class switched memory B cell (CL0000972)
    Fold Change: -0.0336
    Cell Significance Index: -0.3000
  • Cell Name: conventional dendritic cell (CL0000990)
    Fold Change: -0.0347
    Cell Significance Index: -0.4100
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.0371
    Cell Significance Index: -0.9500
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: -0.0415
    Cell Significance Index: -0.4900
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: -0.0425
    Cell Significance Index: -0.8300
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0521
    Cell Significance Index: -0.8700
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: -0.0583
    Cell Significance Index: -0.9500
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: -0.0597
    Cell Significance Index: -1.0200
  • Cell Name: neutrophil (CL0000775)
    Fold Change: -0.0644
    Cell Significance Index: -0.8100
  • Cell Name: CD8-positive, alpha-beta memory T cell (CL0000909)
    Fold Change: -0.0660
    Cell Significance Index: -0.6700
  • Cell Name: natural killer cell (CL0000623)
    Fold Change: -0.0668
    Cell Significance Index: -0.7400
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: -0.0751
    Cell Significance Index: -1.0300
  • Cell Name: B cell (CL0000236)
    Fold Change: -0.0804
    Cell Significance Index: -0.9500
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: -0.0830
    Cell Significance Index: -0.5400
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: -0.0893
    Cell Significance Index: -0.5300
  • Cell Name: glial cell (CL0000125)
    Fold Change: -0.0904
    Cell Significance Index: -0.9900
  • Cell Name: mast cell (CL0000097)
    Fold Change: -0.0942
    Cell Significance Index: -1.2400
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: -0.0945
    Cell Significance Index: -1.0700
  • Cell Name: non-classical monocyte (CL0000875)
    Fold Change: -0.0948
    Cell Significance Index: -1.0500
  • Cell Name: platelet (CL0000233)
    Fold Change: -0.0991
    Cell Significance Index: -1.0200
  • Cell Name: CD4-positive, alpha-beta memory T cell (CL0000897)
    Fold Change: -0.1009
    Cell Significance Index: -0.9700
  • Cell Name: myelocyte (CL0002193)
    Fold Change: -0.1039
    Cell Significance Index: -1.1100
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: -0.1040
    Cell Significance Index: -1.3600
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: -0.1082
    Cell Significance Index: -1.3300
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: -0.1088
    Cell Significance Index: -1.2800
  • Cell Name: IgA plasmablast (CL0000984)
    Fold Change: -0.1095
    Cell Significance Index: -0.8800
  • Cell Name: naive T cell (CL0000898)
    Fold Change: -0.1101
    Cell Significance Index: -1.0000
  • Cell Name: mature NK T cell (CL0000814)
    Fold Change: -0.1105
    Cell Significance Index: -1.2500
  • Cell Name: IgG plasmablast (CL0000982)
    Fold Change: -0.1151
    Cell Significance Index: -0.9500
  • Cell Name: vascular associated smooth muscle cell (CL0000359)
    Fold Change: -0.1186
    Cell Significance Index: -1.2600
  • Cell Name: classical monocyte (CL0000860)
    Fold Change: -0.1192
    Cell Significance Index: -1.1100
  • Cell Name: macrophage (CL0000235)
    Fold Change: -0.1195
    Cell Significance Index: -1.2200
  • Cell Name: dendritic cell (CL0000451)
    Fold Change: -0.1195
    Cell Significance Index: -1.5600
  • Cell Name: double negative thymocyte (CL0002489)
    Fold Change: -0.1213
    Cell Significance Index: -1.4400
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: -0.1213
    Cell Significance Index: -1.4600
  • Cell Name: monocyte (CL0000576)
    Fold Change: -0.1251
    Cell Significance Index: -1.4400
  • Cell Name: promyelocyte (CL0000836)
    Fold Change: -0.1275
    Cell Significance Index: -1.2600
  • Cell Name: plasmacytoid dendritic cell, human (CL0001058)
    Fold Change: -0.1282
    Cell Significance Index: -1.2600
  • Cell Name: CD16-positive, CD56-dim natural killer cell, human (CL0000939)
    Fold Change: -0.1337
    Cell Significance Index: -1.1900
  • Cell Name: fibroblast of lung (CL0002553)
    Fold Change: -0.1338
    Cell Significance Index: -1.5900
  • Cell Name: urothelial cell (CL0000731)
    Fold Change: -0.1362
    Cell Significance Index: -0.9500
  • Cell Name: myofibroblast cell (CL0000186)
    Fold Change: -0.1364
    Cell Significance Index: -1.4300
  • Cell Name: promonocyte (CL0000559)
    Fold Change: -0.1395
    Cell Significance Index: -1.4900
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: -0.1448
    Cell Significance Index: -1.3300
  • Cell Name: intermediate monocyte (CL0002393)
    Fold Change: -0.1449
    Cell Significance Index: -1.3500
  • Cell Name: hematopoietic multipotent progenitor cell (CL0000837)
    Fold Change: -0.1450
    Cell Significance Index: -1.7500
  • Cell Name: progenitor cell (CL0011026)
    Fold Change: -0.1469
    Cell Significance Index: -1.5600
  • Cell Name: immature B cell (CL0000816)
    Fold Change: -0.1522
    Cell Significance Index: -1.4400
  • Cell Name: effector CD4-positive, alpha-beta T cell (CL0001044)
    Fold Change: -0.1524
    Cell Significance Index: -1.3800
  • Cell Name: naive thymus-derived CD4-positive, alpha-beta T cell (CL0000895)
    Fold Change: -0.1541
    Cell Significance Index: -1.3300
  • Cell Name: memory B cell (CL0000787)
    Fold Change: -0.1589
    Cell Significance Index: -1.6900
  • Cell Name: group 3 innate lymphoid cell (CL0001071)
    Fold Change: -0.1627
    Cell Significance Index: -1.5900
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: -0.1639
    Cell Significance Index: -1.5000
  • Cell Name: glioblast (CL0000030)
    Fold Change: -0.1640
    Cell Significance Index: -1.0300
  • Cell Name: eurydendroid cell (CL0000253)
    Fold Change: -0.1658
    Cell Significance Index: -1.2800
  • Cell Name: mesothelial cell (CL0000077)
    Fold Change: -0.1662
    Cell Significance Index: -2.0200
  • Cell Name: CD16-negative, CD56-bright natural killer cell, human (CL0000938)
    Fold Change: -0.1669
    Cell Significance Index: -1.7300
  • Cell Name: early lymphoid progenitor (CL0000936)
    Fold Change: -0.1724
    Cell Significance Index: -1.7500
  • Cell Name: naive thymus-derived CD8-positive, alpha-beta T cell (CL0000900)
    Fold Change: -0.1727
    Cell Significance Index: -1.7400
  • Cell Name: B-1 B cell (CL0000819)
    Fold Change: -0.1738
    Cell Significance Index: -1.5200
  • Cell Name: type II muscle cell (CL0002212)
    Fold Change: -0.1763
    Cell Significance Index: -2.8500
  • Cell Name: tendon cell (CL0000388)
    Fold Change: -0.1772
    Cell Significance Index: -2.4100
  • Cell Name: small pre-B-II cell (CL0000954)
    Fold Change: -0.1792
    Cell Significance Index: -1.4400
  • Cell Name: T follicular helper cell (CL0002038)
    Fold Change: -0.1915
    Cell Significance Index: -2.0300
  • Cell Name: fibroblast (CL0000057)
    Fold Change: -0.1960
    Cell Significance Index: -1.8400
  • Cell Name: B-2 B cell (CL0000822)
    Fold Change: -0.1974
    Cell Significance Index: -1.7500
  • Cell Name: CD8-positive, alpha-beta T cell (CL0000625)
    Fold Change: -0.2025
    Cell Significance Index: -1.9200
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: -0.2049
    Cell Significance Index: -2.3800
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: -0.2265
    Cell Significance Index: -1.4200
  • Cell Name: plasma cell (CL0000786)
    Fold Change: -0.2363
    Cell Significance Index: -2.6400
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: -0.2411
    Cell Significance Index: -2.5900
  • Cell Name: activated CD8-positive, alpha-beta T cell (CL0000906)
    Fold Change: -0.2429
    Cell Significance Index: -2.0300
  • Cell Name: pulmonary alveolar type 1 cell (CL0002062)
    Fold Change: -0.2550
    Cell Significance Index: -2.8000
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: -0.2567
    Cell Significance Index: -3.3500
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: -0.2590
    Cell Significance Index: -1.9800
  • Cell Name: vein endothelial cell (CL0002543)
    Fold Change: -0.2670
    Cell Significance Index: -2.8900
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: -0.2677
    Cell Significance Index: -2.8000
  • Cell Name: pericyte (CL0000669)
    Fold Change: -0.2694
    Cell Significance Index: -3.2300
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: -0.2735
    Cell Significance Index: -2.4100
  • Cell Name: mature neutrophil (CL0000096)
    Fold Change: -0.2871
    Cell Significance Index: -2.3500
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.2896
    Cell Significance Index: -2.7500
  • Cell Name: CD14-positive, CD16-low monocyte (CL0001055)
    Fold Change: -0.2947
    Cell Significance Index: -2.8400
  • Cell Name: CD4-positive, alpha-beta T cell (CL0000624)
    Fold Change: -0.3020
    Cell Significance Index: -2.8300
  • Cell Name: capillary endothelial cell (CL0002144)
    Fold Change: -0.3099
    Cell Significance Index: -3.5200

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** 1. **Antimicrobial properties**: DEFA1 exhibits potent antimicrobial activity against a wide range of pathogens, including bacteria, fungi, and viruses. 2. **Cell membrane disruption**: The protein's ability to form pores in the target cell's plasma membrane leads to cell lysis and death. 3. **Neutrophil-specific expression**: DEFA1 is primarily expressed in neutrophils, which are key players in the innate immune response. 4. **Broad expression pattern**: DEFA1 is also expressed in other cells, including microglia, oligodendrocytes, and endothelial cells, suggesting a broader role in immune regulation. 5. **Evolutionary conservation**: DEFA1 is conserved across species, indicating its importance in the innate immune response. **Pathways and Functions** 1. **Antimicrobial humoral response**: DEFA1 plays a crucial role in the antimicrobial humoral response, which involves the production of antimicrobial peptides and proteins. 2. **Azurophil granule lumen**: DEFA1 is stored in azurophil granules, which are secretory vesicles found in neutrophils. 3. **Cellular response to lipopolysaccharide**: DEFA1 is involved in the cellular response to lipopolysaccharide (LPS), a component of Gram-negative bacterial cell walls. 4. **Chemotaxis**: DEFA1 may also play a role in chemotaxis, the directional movement of cells in response to chemical stimuli. 5. **Immune system regulation**: DEFA1 may also regulate the immune system by modulating the activity of other immune cells, such as T cells and dendritic cells. **Clinical Significance** 1. **Infectious diseases**: DEFA1 has been implicated in the pathogenesis of various infectious diseases, including bacterial, fungal, and viral infections. 2. **Neutropenia**: Mutations in the DEFA1 gene have been associated with neutropenia, a condition characterized by low levels of neutrophils. 3. **Autoimmune disorders**: DEFA1 may also play a role in autoimmune disorders, such as rheumatoid arthritis and lupus, where immune dysregulation is a key feature. 4. **Cancer**: DEFA1 has been shown to have anti-tumor activity, suggesting its potential use as a therapeutic agent against cancer. 5. **Vaccine development**: DEFA1 may also be used as a vaccine adjuvant to enhance the immune response to vaccines. In conclusion, DEFA1 is a critical component of the innate immune response, playing a key role in the defense against bacterial, fungal, and viral infections. Its unique structure and function enable it to disrupt the plasma membrane of target cells, leading to cell lysis and death. The gene's clinical significance extends beyond its antimicrobial properties, with implications for the treatment of infectious diseases, autoimmune disorders, and cancer.

Genular Protein ID: 150424242

Symbol: DEF1_HUMAN

Name: Neutrophil defensin 1

UniProtKB Accession Codes:

P59665 P11479 Q14125 Q6EZF6

Database IDs:

AGR 2 AlphaFoldDB 1 Antibodypedia 2 BMRB 1 Bgee 1 BioGRID 2 BioGRID-ORCS 2 BioMuta 1 CCDS 2 CTD 2 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 2 EMBL 13 Ensembl 4 EvolutionaryTrace 1 GO 23 GeneCards 2 GeneTree 1 GeneWiki 2 HGNC 2 HOGENOM 1 HPA 2 InParanoid 1 IntAct 1 InterPro 4 KEGG 2 MANE-Select 2 MIM 1 MINT 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 2 OrthoDB 1 PANTHER 2 PDB 18 PDBsum 18 PIR 1 PIRSF 1 PRIDE 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 3 RefSeq 2 SMART 2 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TCDB 1 TopDownProteomics 1 TreeFam 1 UCSC 1 VEuPathDB 2 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 3174637

Title: Isolation and characterization of human defensin cDNA clones.

PubMed ID: 3174637

DOI: 10.1073/pnas.85.19.7327

PubMed ID: 3370315

Title: A myeloid-related sequence that localizes to human chromosome 8q21.1-22.

PubMed ID: 3370315

PubMed ID: 2918759

Title: Differentiation stage-specific expression of a gene during granulopoiesis.

PubMed ID: 2918759

PubMed ID: 8530462

Title: Inheritance of unequal numbers of the genes encoding the human neutrophil defensins HP-1 and HP-3.

PubMed ID: 8530462

DOI: 10.1074/jbc.270.51.30371

PubMed ID: 8477861

Title: The structure of neutrophil defensin genes.

PubMed ID: 8477861

DOI: 10.1016/0014-5793(93)80122-b

PubMed ID: 8325384

Title:

PubMed ID: 8325384

DOI: 10.1016/0014-5793(93)81813-f

PubMed ID: 16421571

Title: DNA sequence and analysis of human chromosome 8.

PubMed ID: 16421571

DOI: 10.1038/nature04406

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 4056036

Title: Primary structures of three human neutrophil defensins.

PubMed ID: 4056036

DOI: 10.1172/jci112121

PubMed ID: 15340161

Title: Signal peptide prediction based on analysis of experimentally verified cleavage sites.

PubMed ID: 15340161

DOI: 10.1110/ps.04682504

PubMed ID: 2917986

Title: Determination of the disulfide array in the human defensin HNP-2. A covalently cyclized peptide.

PubMed ID: 2917986

DOI: 10.1016/s0021-9258(19)84952-9

PubMed ID: 2019582

Title: The isolation and identification of multiple forms of the neutrophil granule peptides from human leukemic cells.

PubMed ID: 2019582

DOI: 10.1016/s0021-9258(20)89478-2

PubMed ID: 1339298

Title: Posttranslational processing of defensins in immature human myeloid cells.

PubMed ID: 1339298

PubMed ID: 15064728

Title: Identification of murine and human XCP1 genes as C/EBP-epsilon-dependent members of FIZZ/Resistin gene family.

PubMed ID: 15064728

DOI: 10.1038/sj.onc.1207126

PubMed ID: 15616305

Title: Antibacterial activity and specificity of the six human alpha-defensins.

PubMed ID: 15616305

DOI: 10.1128/aac.49.1.269-275.2005

PubMed ID: 17142766

Title: Human alpha- and beta-defensins block multiple steps in herpes simplex virus infection.

PubMed ID: 17142766

DOI: 10.4049/jimmunol.177.12.8658

PubMed ID: 18191790

Title: Mechanism of adenovirus neutralization by Human alpha-defensins.

PubMed ID: 18191790

DOI: 10.1016/j.chom.2007.12.001

PubMed ID: 20214904

Title: Functional interaction of human neutrophil peptide-1 with the cell wall precursor lipid II.

PubMed ID: 20214904

DOI: 10.1016/j.febslet.2010.03.004

PubMed ID: 21904558

Title: Structural and functional consequences induced by post-translational modifications in alpha-Defensins.

PubMed ID: 21904558

DOI: 10.1155/2011/594723

PubMed ID: 27031443

Title: Alarmin human alpha defensin HNP1 activates plasmacytoid dendritic cells by triggering NF-kappaB and IRF1 signaling pathways.

PubMed ID: 27031443

DOI: 10.1016/j.cyto.2016.03.015

PubMed ID: 35080426

Title: Adenovirus-alpha-Defensin Complexes Induce NLRP3-Associated Maturation of Human Phagocytes via Toll-Like Receptor 4 Engagement.

PubMed ID: 35080426

DOI: 10.1128/jvi.01850-21

PubMed ID: 1445872

Title: NMR studies of defensin antimicrobial peptides. 1. Resonance assignment and secondary structure determination of rabbit NP-2 and human HNP-1.

PubMed ID: 1445872

DOI: 10.1021/bi00161a012

PubMed ID: 1445873

Title: NMR studies of defensin antimicrobial peptides. 2. Three-dimensional structures of rabbit NP-2 and human HNP-1.

PubMed ID: 1445873

DOI: 10.1021/bi00161a013

PubMed ID: 17452329

Title: Toward understanding the cationicity of defensins. Arg and Lys versus their noncoded analogs.

PubMed ID: 17452329

DOI: 10.1074/jbc.m611003200

PubMed ID: 20220136

Title: Trp-26 imparts functional versatility to human alpha-defensin HNP1.

PubMed ID: 20220136

DOI: 10.1074/jbc.m110.102749

PubMed ID: 24236072

Title: Single, double and quadruple alanine substitutions at oligomeric interfaces identify hydrophobicity as the key determinant of human neutrophil alpha defensin HNP1 function.

PubMed ID: 24236072

DOI: 10.1371/journal.pone.0078937

Sequence Information:

  • Length: 94
  • Mass: 10201
  • Checksum: 0E0F8E95737396FA
  • Sequence:
    • MRTLAILAAI LLVALQAQAE PLQARADEVA AAPEQIAADI PEVVVSLAWD ESLAPKHPGS 
RKNMACYCRI PACIAGERRY GTCIYQGRLW AFCC

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.