Details for: DEFB1

Gene ID: 1672

Symbol: DEFB1

Ensembl ID: ENSG00000164825

Description: defensin beta 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: polychromatophilic erythroblast (CL0000550)
    Fold Change: 137.8377
    Cell Significance Index: -21.4400
  • Cell Name: epithelial cell of exocrine pancreas (CL1001433)
    Fold Change: 86.5372
    Cell Significance Index: 43.4600
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 55.4439
    Cell Significance Index: -22.8400
  • Cell Name: columnar/cuboidal epithelial cell (CL0000075)
    Fold Change: 30.8201
    Cell Significance Index: 118.0100
  • Cell Name: salivary gland glandular cell (CL1001596)
    Fold Change: 28.7618
    Cell Significance Index: 160.0900
  • Cell Name: kidney collecting duct cell (CL1001225)
    Fold Change: 25.4103
    Cell Significance Index: 87.2500
  • Cell Name: epidermal cell (CL0000362)
    Fold Change: 12.0631
    Cell Significance Index: 27.2000
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 8.7313
    Cell Significance Index: -23.3900
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: 8.1175
    Cell Significance Index: 642.9100
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 7.4631
    Cell Significance Index: 203.1400
  • Cell Name: seromucus secreting cell (CL0000159)
    Fold Change: 7.3625
    Cell Significance Index: 153.5500
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 6.3352
    Cell Significance Index: 4644.9200
  • Cell Name: intrahepatic cholangiocyte (CL0002538)
    Fold Change: 4.8430
    Cell Significance Index: 18.2400
  • Cell Name: chorionic trophoblast cell (CL0011101)
    Fold Change: 3.5268
    Cell Significance Index: 10.9400
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 2.1559
    Cell Significance Index: 213.2700
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 1.5742
    Cell Significance Index: 268.8100
  • Cell Name: peg cell (CL4033014)
    Fold Change: 1.4838
    Cell Significance Index: 34.2800
  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: 1.3993
    Cell Significance Index: 8.6600
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.1543
    Cell Significance Index: 187.7400
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 1.1407
    Cell Significance Index: 59.8900
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: 1.0821
    Cell Significance Index: 8.6100
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.9679
    Cell Significance Index: 50.2800
  • Cell Name: salivary gland cell (CL0009005)
    Fold Change: 0.8617
    Cell Significance Index: 10.7000
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.7964
    Cell Significance Index: 434.9500
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.7448
    Cell Significance Index: 44.7200
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.7354
    Cell Significance Index: 54.8100
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.6888
    Cell Significance Index: 47.6400
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.5866
    Cell Significance Index: 259.3700
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.5683
    Cell Significance Index: 73.4200
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.5234
    Cell Significance Index: 37.0200
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.4458
    Cell Significance Index: 12.4600
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.3792
    Cell Significance Index: 17.1900
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.3698
    Cell Significance Index: 17.2400
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.3125
    Cell Significance Index: 4.6100
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.2595
    Cell Significance Index: 12.2000
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.2153
    Cell Significance Index: 24.6700
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.1982
    Cell Significance Index: 35.7300
  • Cell Name: luminal hormone-sensing cell of mammary gland (CL4033058)
    Fold Change: 0.1917
    Cell Significance Index: 1.1800
  • Cell Name: renal intercalated cell (CL0005010)
    Fold Change: 0.1691
    Cell Significance Index: 1.3500
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1543
    Cell Significance Index: 29.3700
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.1370
    Cell Significance Index: 1.4500
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.1038
    Cell Significance Index: 2.9900
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.0969
    Cell Significance Index: 11.2900
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0816
    Cell Significance Index: 10.0400
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: 0.0697
    Cell Significance Index: 7.9600
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 0.0603
    Cell Significance Index: 0.4000
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0296
    Cell Significance Index: 0.7400
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0206
    Cell Significance Index: 38.7500
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.0180
    Cell Significance Index: 0.3900
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0063
    Cell Significance Index: 0.2200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.0030
    Cell Significance Index: 1.7100
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.0023
    Cell Significance Index: 1.6900
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0030
    Cell Significance Index: -0.1500
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0050
    Cell Significance Index: -0.5200
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: -0.0055
    Cell Significance Index: -0.0900
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0080
    Cell Significance Index: -5.0000
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0100
    Cell Significance Index: -1.3800
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0134
    Cell Significance Index: -24.7600
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0160
    Cell Significance Index: -24.6800
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: -0.0235
    Cell Significance Index: -0.1800
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0238
    Cell Significance Index: -18.0500
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: -0.0255
    Cell Significance Index: -0.2300
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0272
    Cell Significance Index: -5.7200
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0284
    Cell Significance Index: -1.1700
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0301
    Cell Significance Index: -19.0900
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0329
    Cell Significance Index: -0.7000
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0557
    Cell Significance Index: -25.2900
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.0572
    Cell Significance Index: -0.7800
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0745
    Cell Significance Index: -21.4400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0816
    Cell Significance Index: -16.2000
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.1064
    Cell Significance Index: -21.3500
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.1318
    Cell Significance Index: -3.3900
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1458
    Cell Significance Index: -4.6700
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.1517
    Cell Significance Index: -1.5700
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1564
    Cell Significance Index: -22.7300
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: -0.1622
    Cell Significance Index: -2.5100
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: -0.1691
    Cell Significance Index: -1.6100
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: -0.1991
    Cell Significance Index: -2.9800
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: -0.2005
    Cell Significance Index: -1.6900
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2028
    Cell Significance Index: -21.1200
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.2056
    Cell Significance Index: -3.0800
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.2501
    Cell Significance Index: -9.1800
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.2713
    Cell Significance Index: -7.9900
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.2980
    Cell Significance Index: -4.4900
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.3182
    Cell Significance Index: -2.9300
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.3221
    Cell Significance Index: -24.7200
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.3224
    Cell Significance Index: -20.3200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.3430
    Cell Significance Index: -21.0300
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: -0.3478
    Cell Significance Index: -3.1700
  • Cell Name: epithelial cell of uterus (CL0002149)
    Fold Change: -0.3611
    Cell Significance Index: -5.0100
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.3840
    Cell Significance Index: -9.8100
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: -0.3907
    Cell Significance Index: -4.1100
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.3962
    Cell Significance Index: -10.5800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.4090
    Cell Significance Index: -22.9500
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.4153
    Cell Significance Index: -8.6200
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.4220
    Cell Significance Index: -10.5400
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.4449
    Cell Significance Index: -7.5000
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.4677
    Cell Significance Index: -3.1700
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: -0.4739
    Cell Significance Index: -5.1100
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.5054
    Cell Significance Index: -8.5000

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:** DEFB1 is a member of the defensin family, which is characterized by its ability to exhibit broad-spectrum antimicrobial activity against a variety of pathogens. 2. **Expression in multiple tissues:** DEFB1 is expressed in various epithelial tissues, including the respiratory, kidney, and gastrointestinal tracts, where it plays a critical role in the innate immune response. 3. **Calcium-mediated signaling:** DEFB1's antimicrobial activity is regulated by calcium-mediated signaling pathways, which are essential for its function in the innate immune response. 4. **G protein-coupled receptor signaling:** DEFB1 also interacts with G protein-coupled receptors, which modulate its activity and influence its expression in response to immune stimuli. **Pathways and Functions:** 1. **Antibacterial humoral response:** DEFB1 is involved in the humoral immune response against bacterial infections, where it acts as a key component of the innate immune system. 2. **Antimicrobial humoral immune response mediated by antimicrobial peptide:** DEFB1's mechanism of action involves the disruption of microbial membranes, leading to cell lysis and the elimination of the pathogen. 3. **Calcium-mediated signaling using intracellular calcium source:** Calcium ions play a crucial role in regulating DEFB1's activity, with an increase in intracellular calcium levels leading to the activation of DEFB1. 4. **CAMP-mediated signaling:** DEFB1 also interacts with cyclic adenosine monophosphate (cAMP), which modulates its activity and influences its expression in response to immune stimuli. **Clinical Significance:** 1. **Innate immune response:** DEFB1 plays a critical role in the innate immune response against bacterial infections, where its deficiency or dysfunction can lead to increased susceptibility to infections. 2. **Respiratory infections:** DEFB1's expression in the respiratory tract makes it a key player in defending against respiratory infections, such as pneumonia and bronchitis. 3. **Gastrointestinal infections:** DEFB1's expression in the gastrointestinal tract also makes it a critical component of the innate immune response against gastrointestinal infections, such as diarrhea and gastroenteritis. 4. **Cancer:** DEFB1's expression in various tissues also makes it a potential target for cancer therapy, where its antimicrobial activity can be exploited to eliminate tumor cells. In conclusion, DEFB1 is a critical component of the innate immune system that plays a pivotal role in defending against bacterial infections. Its antimicrobial properties, expression in multiple tissues, and regulation by calcium-mediated signaling pathways make it an essential player in the innate immune response. Further research is needed to fully understand the mechanisms of DEFB1's function and its clinical significance in the context of immune response and disease.

Genular Protein ID: 2217761765

Symbol: DEFB1_HUMAN

Name: Beta-defensin 1

UniProtKB Accession Codes:

P60022 Q09753

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 7 Ensembl 2 EvolutionaryTrace 1 GO 22 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyConnect 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 1 KEGG 1 MANE-Select 1 MIM 1 MINT 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PDB 15 PDBsum 15 PIR 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 2 RefSeq 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TCDB 1 UCSC 1 VEuPathDB 1 eggNOG 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9268634

Title: The human beta-defensin-1 and alpha-defensins are encoded by adjacent genes: two peptide families with differing disulfide topology share a common ancestry.

PubMed ID: 9268634

DOI: 10.1006/geno.1997.4801

PubMed ID: 9070620

Title: Human airway epithelia express a beta-defensin.

PubMed ID: 9070620

DOI: 10.1165/ajrcmb.16.3.9070620

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: 7628632

Title: hBD-1: a novel beta-defensin from human plasma.

PubMed ID: 7628632

DOI: 10.1016/0014-5793(95)00687-5

PubMed ID: 12010514

Title: Chemical synthesis of beta-defensins and LEAP-1/hepcidin.

PubMed ID: 12010514

DOI: 10.1034/j.1399-3011.2002.00980.x

PubMed ID: 25122636

Title: Deficient human beta-defensin 1 underlies male infertility associated with poor sperm motility and genital tract infection.

PubMed ID: 25122636

DOI: 10.1126/scitranslmed.3009071

PubMed ID: 23938203

Title: Structural basis for the interaction of human beta-defensin 6 and its putative chemokine receptor CCR2 and breast cancer microvesicles.

PubMed ID: 23938203

DOI: 10.1016/j.jmb.2013.08.001

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 11486002

Title: The structure of human beta-defensin-1: new insights into structural properties of beta-defensins.

PubMed ID: 11486002

DOI: 10.1074/jbc.m103830200

PubMed ID: 11714914

Title: Structure determination of human and murine beta-defensins reveals structural conservation in the absence of significant sequence similarity.

PubMed ID: 11714914

DOI: 10.1110/ps.24401

Sequence Information:

  • Length: 68
  • Mass: 7420
  • Checksum: B0AB76DEC3B14F94
  • Sequence:
    • MRTSYLLLFT LCLLLSEMAS GGNFLTGLGH RSDHYNCVSS GGQCLYSACP IFTKIQGTCY 
RGKAKCCK

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.