Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Members of the defensin family are highly similar in protein sequence. This gene encodes defensin, beta 1, an antimicrobial peptide implicated in the resistance of epithelial surfaces to microbial colonization. This gene maps in close proximity to defensin family member, defensin, alpha 1 and ha... See more...

Aliases for DEFB1 Gene

Aliases for DEFB1 Gene

  • Defensin Beta 1 2 3 5
  • Beta-Defensin 1 2 3 4
  • HBD1 2 3 4
  • BD1 2 3 4
  • Defensin, Beta 1 2 4
  • DEFB101 2 3
  • DEFB-1 2 3
  • HBD-1 2 4
  • BD-1 3 4
  • Beta Defensin 1 2
  • MGC51822 2
  • DEFB1 5

External Ids for DEFB1 Gene

Previous GeneCards Identifiers for DEFB1 Gene

  • GC08M006792
  • GC08M006982
  • GC08M006715
  • GC08M006508

Summaries for DEFB1 Gene

Entrez Gene Summary for DEFB1 Gene

  • Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Members of the defensin family are highly similar in protein sequence. This gene encodes defensin, beta 1, an antimicrobial peptide implicated in the resistance of epithelial surfaces to microbial colonization. This gene maps in close proximity to defensin family member, defensin, alpha 1 and has been implicated in the pathogenesis of cystic fibrosis. [provided by RefSeq, Jul 2008]

GeneCards Summary for DEFB1 Gene

DEFB1 (Defensin Beta 1) is a Protein Coding gene. Diseases associated with DEFB1 include Tonsillitis and Cystic Fibrosis. Among its related pathways are Defensins and Regulation of activated PAK-2p34 by proteasome mediated degradation.

UniProtKB/Swiss-Prot Summary for DEFB1 Gene

  • Has bactericidal activity. May act as a ligand for C-C chemokine receptor CCR6. Positively regulates the sperm motility and bactericidal activity in a CCR6-dependent manner. Binds to CCR6 and triggers Ca2+ mobilization in the sperm which is important for its motility (PubMed:25122636).

Gene Wiki entry for DEFB1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DEFB1 Gene

Genomics for DEFB1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DEFB1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J006876 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 623.6 +0.2 152 1.6 ZIC2 ZNF341 CEBPA ZNF561 CEBPB USF1 RCOR1 YY1 GTF2F1 JUND DEFB1 piR-59297-624 ENSG00000245857 XKR5
GH08J006863 Enhancer 1.1 FANTOM5 Ensembl ENCODE 22.2 +11.5 11457 6.2 ZIC2 ESR1 CEBPB FOS JUN RCOR1 GTF2F1 JUND MAX MXI1 DEFB1 DEFA4 DEFA6 DEFA5 ENSG00000245857 piR-59297-624 XKR5
GH08J006928 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE dbSUPER 11.6 -61.7 -61665 22.8 CTCF RAD21 REST TRIM22 SCRT2 MNT CEBPB RUNX3 ZNF157 USF1 DEFA4 DEFB1 FAM66B ENSG00000246089 OR7E154P FAM90A20P DEFA5 HSALNG0063171 DEFA8P ENSG00000254625
GH08J006873 Enhancer 0.4 ENCODE 27.5 +3.9 3864 1.7 MAFG HNF4A EMSY SP1 DEFB1 DEFA6 piR-59297-624 ENSG00000245857 XKR5
GH08J006900 Enhancer 0.9 Ensembl ENCODE 13 -23.3 -23329 1.3 GATAD2A TFE3 SOX13 SP1 CEBPA SCRT2 CEBPB TCF7 FOXA2 TEAD1 HSALNG0063168 RPL23AP96 DEFB1 DEFA6 DEFA4 lnc-DEFA6-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DEFB1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DEFB1

Top Transcription factor binding sites by QIAGEN in the DEFB1 gene promoter:
  • C/EBPalpha
  • GR
  • GR-alpha
  • NF-kappaB1
  • p53

Genomic Locations for DEFB1 Gene

Genomic Locations for DEFB1 Gene
chr8:6,870,592-6,877,936
(GRCh38/hg38)
Size:
7,345 bases
Orientation:
Minus strand
chr8:6,728,097-6,735,544
(GRCh37/hg19)
Size:
7,448 bases
Orientation:
Minus strand

Genomic View for DEFB1 Gene

Genes around DEFB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DEFB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DEFB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DEFB1 Gene

Proteins for DEFB1 Gene

  • Protein details for DEFB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P60022-DEFB1_HUMAN
    Recommended name:
    Beta-defensin 1
    Protein Accession:
    P60022
    Secondary Accessions:
    • Q09753

    Protein attributes for DEFB1 Gene

    Size:
    68 amino acids
    Molecular mass:
    7420 Da
    Quaternary structure:
    • Monomer (PubMed:23938203). Homodimer (PubMed:23938203).

    Three dimensional structures from OCA and Proteopedia for DEFB1 Gene

neXtProt entry for DEFB1 Gene

Post-translational modifications for DEFB1 Gene

No Post-translational modifications

Other Protein References for DEFB1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DEFB1 Gene

Domains & Families for DEFB1 Gene

Gene Families for DEFB1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted secreted proteins
  • Transporters

Protein Domains for DEFB1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DEFB1 Gene

GenScript: Design optimal peptide antigens:
  • Defensin, beta 1 (DEFB1_HUMAN)
  • Beta-defensin-1 (Q86SQ8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P60022

UniProtKB/Swiss-Prot:

DEFB1_HUMAN :
  • Belongs to the beta-defensin family.
Family:
  • Belongs to the beta-defensin family.
genes like me logo Genes that share domains with DEFB1: view

Function for DEFB1 Gene

Molecular function for DEFB1 Gene

UniProtKB/Swiss-Prot Function:
Has bactericidal activity. May act as a ligand for C-C chemokine receptor CCR6. Positively regulates the sperm motility and bactericidal activity in a CCR6-dependent manner. Binds to CCR6 and triggers Ca2+ mobilization in the sperm which is important for its motility (PubMed:25122636).
GENATLAS Biochemistry:
defensin beta 1,3-4kDa,expressed in many epithelial tissues,implicated in the resistance to microbial colonization,oxygen independent phagocytosis of Gram+,Gram- bacteria,many fungi,some viruses,within 100-150kb of DEFA cluster

Phenotypes From GWAS Catalog for DEFB1 Gene

Gene Ontology (GO) - Molecular Function for DEFB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25122636
GO:0031731 CCR6 chemokine receptor binding IDA 25122636
GO:0042802 identical protein binding IDA 23938203
genes like me logo Genes that share ontologies with DEFB1: view
genes like me logo Genes that share phenotypes with DEFB1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DEFB1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for DEFB1 Gene

Localization for DEFB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DEFB1 Gene

Secreted. Membrane. Note=Associates with tumor cell membrane-derived microvesicles (PubMed:23938203). {ECO:0000269 PubMed:23938203}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DEFB1 gene
Compartment Confidence
extracellular 5
golgi apparatus 4
plasma membrane 2
cytoskeleton 2
mitochondrion 2
nucleus 2
cytosol 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for DEFB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA 12860195
GO:0005796 Golgi lumen TAS --
GO:0016020 membrane IEA --
GO:0019898 extrinsic component of membrane IDA 23938203
genes like me logo Genes that share ontologies with DEFB1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DEFB1 Gene

Pathways & Interactions for DEFB1 Gene

genes like me logo Genes that share pathways with DEFB1: view

Pathways by source for DEFB1 Gene

Gene Ontology (GO) - Biological Process for DEFB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002227 innate immune response in mucosa IDA 12860195
GO:0006935 chemotaxis TAS 10521347
GO:0006952 defense response IEA --
GO:0006955 immune response TAS 10521347
GO:0007186 G protein-coupled receptor signaling pathway TAS 10521347
genes like me logo Genes that share ontologies with DEFB1: view

No data available for SIGNOR curated interactions for DEFB1 Gene

Drugs & Compounds for DEFB1 Gene

(3) Drugs for DEFB1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(6) Additional Compounds for DEFB1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with DEFB1: view

Transcripts for DEFB1 Gene

mRNA/cDNA for DEFB1 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DEFB1

Alternative Splicing Database (ASD) splice patterns (SP) for DEFB1 Gene

No ASD Table

Relevant External Links for DEFB1 Gene

GeneLoc Exon Structure for
DEFB1

Expression for DEFB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DEFB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DEFB1 Gene

This gene is overexpressed in Minor Salivary Gland (x20.7), Kidney - Cortex (x14.5), and Pancreas (x6.8).

Protein differential expression in normal tissues from HIPED for DEFB1 Gene

This gene is overexpressed in Urine (66.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DEFB1 Gene



Protein tissue co-expression partners for DEFB1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DEFB1

SOURCE GeneReport for Unigene cluster for DEFB1 Gene:

Hs.32949

mRNA Expression by UniProt/SwissProt for DEFB1 Gene:

P60022-DEFB1_HUMAN
Tissue specificity: Blood plasma. Sperm. Highly expressed in the lower head and midpiece of sperm. Significantly reduced levels found in the sperms of asthenozoospermia and leukocytospermia patients (at protein level).

Evidence on tissue expression from TISSUES for DEFB1 Gene

  • Kidney(4.7)
  • Skin(4.7)
  • Intestine(4.5)
  • Bone marrow(4.4)
  • Liver(3.1)
  • Pancreas(2.8)
  • Blood(2.5)
  • Lung(2.4)
  • Stomach(2.4)
  • Spleen(2.1)
  • Lymph node(2.1)
  • Saliva(2.1)
genes like me logo Genes that share expression patterns with DEFB1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for DEFB1 Gene

Orthologs for DEFB1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for DEFB1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DEFB1 30 31
  • 99.51 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CBD1 31
  • 61 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Defb1 31
  • 49 (a)
OneToOne
Species where no ortholog for DEFB1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Cow (Bos Taurus)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for DEFB1 Gene

ENSEMBL:
Gene Tree for DEFB1 (if available)
TreeFam:
Gene Tree for DEFB1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DEFB1: view image

Paralogs for DEFB1 Gene

(1) SIMAP similar genes for DEFB1 Gene using alignment to 1 proteins:

  • DEFB1_HUMAN
genes like me logo Genes that share paralogs with DEFB1: view

No data available for Paralogs for DEFB1 Gene

Variants for DEFB1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DEFB1 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
712566 Likely Benign: not provided 6,870,777(-) G/T NONSENSE
785241 Benign: not provided 6,870,807(-) G/A SYNONYMOUS_VARIANT
rs1800967 - p.Ala48Val
rs1800968 - p.Cys67Ser
rs2738047 - p.Val38Ile

Additional dbSNP identifiers (rs#s) for DEFB1 Gene

Structural Variations from Database of Genomic Variants (DGV) for DEFB1 Gene

Variant ID Type Subtype PubMed ID
dgv6878n100 CNV gain 25217958
esv2422383 CNV duplication 17116639
esv2752262 CNV gain 17911159
esv2759589 CNV gain+loss 17122850
esv3576520 CNV gain 25503493
nsv1015244 CNV gain 25217958
nsv1021684 CNV loss 25217958
nsv1024151 CNV gain 25217958
nsv1031577 CNV gain 25217958
nsv428194 CNV gain+loss 18775914
nsv465436 CNV gain 19166990
nsv465437 CNV gain 19166990
nsv528374 CNV gain 19592680
nsv610004 CNV gain 21841781
nsv610006 CNV gain 21841781
nsv610007 CNV gain 21841781
nsv610009 CNV loss 21841781
nsv610010 CNV gain 21841781
nsv831220 CNV gain 17160897

Variation tolerance for DEFB1 Gene

Residual Variation Intolerance Score: 89.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.34; 41.66% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DEFB1 Gene

Human Gene Mutation Database (HGMD)
DEFB1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DEFB1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DEFB1 Gene

Disorders for DEFB1 Gene

MalaCards: The human disease database

(27) MalaCards diseases for DEFB1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
tonsillitis
  • chronic tonsillitis
cystic fibrosis
  • cf
endophthalmitis
vulvovaginal candidiasis
  • candidal vulvovaginitis
oral candidiasis
  • candidiasis of mouth
- elite association - COSMIC cancer census association via MalaCards
Search DEFB1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DEFB1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with DEFB1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DEFB1 Gene

Publications for DEFB1 Gene

  1. hBD-1: a novel beta-defensin from human plasma. (PMID: 7628632) Bensch KW … Forssmann WG (FEBS letters 1995) 2 3 4 23
  2. Association between DEFB1 gene haplotype and herpes viruses seroprevalence in children with acute lymphoblastic leukemia. (PMID: 19954367) Tesse R … Armenio L (Pediatric hematology and oncology 2009) 3 23 41
  3. SNP 668C (-44) alters a NF-kappaB1 putative binding site in non-coding strand of human beta-defensin 1 (DEFB1) and is associated with lepromatous leprosy. (PMID: 19460328) Prado-Montes de Oca E … Figuera LE (Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases 2009) 3 23 41
  4. Potential role of human beta-defensin 1 in Helicobacter pylori-induced gastritis. (PMID: 18991164) Kocsis AK … Mándi Y (Scandinavian journal of gastroenterology 2009) 3 23 41
  5. No association between selected candidate gene polymorphisms and severe chronic periodontitis. (PMID: 16512757) Wohlfahrt JC … Michalowicz BS (Journal of periodontology 2006) 3 23 41

Products for DEFB1 Gene

Sources for DEFB1 Gene