Details for: DEFA1

Gene ID: 1667

Symbol: DEFA1

Ensembl ID: ENSG00000206047

Description: defensin alpha 1

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: 15.99
    Marker Score: 162096
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 6.7
    Marker Score: 8288
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 3.76
    Marker Score: 6854
  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 3.16
    Marker Score: 3185
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: 2.43
    Marker Score: 1357
  • Cell Name: conventional dendritic cell (CL0000990)
    Fold Change: 2.21
    Marker Score: 1523
  • Cell Name: myelocyte (CL0002193)
    Fold Change: 1.68
    Marker Score: 725
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 1.05
    Marker Score: 804
  • Cell Name: CD8-positive, alpha-beta thymocyte (CL0000811)
    Fold Change: 1.04
    Marker Score: 572
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1
    Marker Score: 637
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71844
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48069
  • Cell Name: natural killer cell (CL0000623)
    Fold Change: 0.8
    Marker Score: 1037
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.78
    Marker Score: 403
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.71
    Marker Score: 182
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.6
    Marker Score: 393.5
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.48
    Marker Score: 127
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.47
    Marker Score: 283
  • Cell Name: CD8-positive, alpha-beta T cell (CL0000625)
    Fold Change: 0.43
    Marker Score: 705
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.43
    Marker Score: 180
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.4
    Marker Score: 386.5
  • Cell Name: promyelocyte (CL0000836)
    Fold Change: 0.32
    Marker Score: 157
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.3
    Marker Score: 299
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.28
    Marker Score: 164
  • Cell Name: immature neutrophil (CL0000776)
    Fold Change: 0.24
    Marker Score: 81
  • Cell Name: plasmacytoid dendritic cell (CL0000784)
    Fold Change: 0.22
    Marker Score: 119
  • Cell Name: neutrophil (CL0000775)
    Fold Change: 0.22
    Marker Score: 134
  • Cell Name: promonocyte (CL0000559)
    Fold Change: 0.2
    Marker Score: 132
  • Cell Name: granulocyte (CL0000094)
    Fold Change: 0.14
    Marker Score: 61
  • Cell Name: immature alpha-beta T cell (CL0000790)
    Fold Change: 0.1
    Marker Score: 35
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: 0.1
    Marker Score: 53
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.09
    Marker Score: 51
  • Cell Name: class switched memory B cell (CL0000972)
    Fold Change: 0.07
    Marker Score: 70
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.07
    Marker Score: 137
  • Cell Name: transitional stage B cell (CL0000818)
    Fold Change: 0.06
    Marker Score: 22
  • Cell Name: macrophage (CL0000235)
    Fold Change: 0.06
    Marker Score: 67
  • Cell Name: dendritic cell (CL0000451)
    Fold Change: 0.04
    Marker Score: 29
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.03
    Marker Score: 32
  • Cell Name: CD4-positive, alpha-beta T cell (CL0000624)
    Fold Change: 0.03
    Marker Score: 67
  • Cell Name: memory B cell (CL0000787)
    Fold Change: 0.02
    Marker Score: 16
  • Cell Name: double negative thymocyte (CL0002489)
    Fold Change: 0.02
    Marker Score: 29
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 0.02
    Marker Score: 10
  • Cell Name: IgA plasmablast (CL0000984)
    Fold Change: 0.02
    Marker Score: 5
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.02
    Marker Score: 16
  • Cell Name: monocyte (CL0000576)
    Fold Change: 0.02
    Marker Score: 21
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 0.02
    Marker Score: 17
  • Cell Name: vascular associated smooth muscle cell (CL0000359)
    Fold Change: 0.01
    Marker Score: 6
  • Cell Name: osteoblast (CL0000062)
    Fold Change: 0.01
    Marker Score: 7
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.01
    Marker Score: 6
  • Cell Name: effector memory CD8-positive, alpha-beta T cell (CL0000913)
    Fold Change: 0.01
    Marker Score: 7
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: 0.01
    Marker Score: 22
  • Cell Name: CD8-positive, alpha-beta memory T cell (CL0000909)
    Fold Change: 0.01
    Marker Score: 7
  • Cell Name: hematopoietic multipotent progenitor cell (CL0000837)
    Fold Change: 0.01
    Marker Score: 4
  • Cell Name: classical monocyte (CL0000860)
    Fold Change: 0.01
    Marker Score: 31
  • Cell Name: B cell (CL0000236)
    Fold Change: 0.01
    Marker Score: 7
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.01
    Marker Score: 6
  • Cell Name: bone marrow cell (CL0002092)
    Fold Change: 0.01
    Marker Score: 5
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 0.01
    Marker Score: 5
  • Cell Name: follicular B cell (CL0000843)
    Fold Change: 0.01
    Marker Score: 6
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.01
    Marker Score: 4
  • Cell Name: Unknown (CL0000003)
    Fold Change: 0.01
    Marker Score: 16
  • Cell Name: progenitor cell (CL0011026)
    Fold Change: 0.01
    Marker Score: 33
  • Cell Name: CD4-positive, alpha-beta memory T cell (CL0000897)
    Fold Change: 0.01
    Marker Score: 3
  • Cell Name: small pre-B-II cell (CL0000954)
    Fold Change: 0
    Marker Score: 6
  • Cell Name: myofibroblast cell (CL0000186)
    Fold Change: 0
    Marker Score: 6
  • Cell Name: central memory CD4-positive, alpha-beta T cell (CL0000904)
    Fold Change: 0
    Marker Score: 5
  • Cell Name: fibroblast of lung (CL0002553)
    Fold Change: 0
    Marker Score: 11
  • Cell Name: B-2 B cell (CL0000822)
    Fold Change: 0
    Marker Score: 5
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 0
    Marker Score: 5.5
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 0
    Marker Score: 4
  • Cell Name: double-positive, alpha-beta thymocyte (CL0000809)
    Fold Change: 0
    Marker Score: 6
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 0
    Marker Score: 3
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0
    Marker Score: 6
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0
    Marker Score: 6
  • Cell Name: endothelial cell of vascular tree (CL0002139)
    Fold Change: 0
    Marker Score: 4
  • Cell Name: naive thymus-derived CD4-positive, alpha-beta T cell (CL0000895)
    Fold Change: 0
    Marker Score: 4
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0
    Marker Score: 6
  • Cell Name: large pre-B-II cell (CL0000957)
    Fold Change: 0
    Marker Score: 6
  • Cell Name: tracheal goblet cell (CL1000329)
    Fold Change: 0
    Marker Score: 6
  • Cell Name: malignant cell (CL0001064)
    Fold Change: 0
    Marker Score: 28
  • Cell Name: neuron (CL0000540)
    Fold Change: 0
    Marker Score: 8
  • Cell Name: T cell (CL0000084)
    Fold Change: 0
    Marker Score: 3
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0
    Marker Score: 6
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 0
    Marker Score: 3
  • Cell Name: mature alpha-beta T cell (CL0000791)
    Fold Change: 0
    Marker Score: 47
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 0
    Marker Score: 5
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0
    Marker Score: 6

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Other Information

**Key characteristics:** - The gene is located on chromosome 19p13.3. - It is a highly conserved gene, with a similar gene found in mice and rats. - It is expressed in high levels in epithelial cells, macrophages, dendritic cells, and neutrophils. - It is a key regulator of the innate immune response and is involved in the defense against a variety of pathogens. **Pathways and functions:** - DEFA1 is a multi-functional protein that can act as a defensin, a pore-forming protein, or an inhibitor of cell adhesion. - It is involved in the innate immune response to gram-negative and gram-positive bacteria, protozoa, and fungi. - It also plays a role in the defense against viral infections. - It is involved in the regulation of inflammation and tissue repair. **Clinical significance:** - Mutations in the DEFA1 gene have been linked to a number of human diseases, including cystic fibrosis, asthma, and inflammatory bowel disease. - Defensins are antimicrobial peptides that can inhibit the growth of bacteria and protozoa. - Therefore, DEFA1 is a potential therapeutic target for a variety of bacterial and protozoan infections. **Additional notes:** - DEFA1 is a highly effective antimicrobial peptide that can kill bacteria and protozoa. - It is also a potent activator of neutrophils, which are a type of white blood cell that is involved in the innate immune response. - It is a highly conserved gene that is found in all mammals.

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 Genevisible 1 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 31 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. For the full schema, download it here.