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Aliases for DEFB1 Gene

Aliases for DEFB1 Gene

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

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 Endophthalmitis and Tonsillitis. Among its related pathways are Defensins and Innate Immune System.

UniProtKB/Swiss-Prot 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

Additional gene information for DEFB1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DEFB1 Gene

Genomics for DEFB1 Gene

Regulatory Elements for DEFB1 Gene

Enhancers for DEFB1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08H006863 1.4 FANTOM5 Ensembl ENCODE 22.1 +11.6 11637 6 GTF2F1 TBP MXI1 JUN MAX ZIC2 RFX5 RCOR1 FOS EGR2 DEFB1 DEFA4 DEFA6 DEFA5 GS1-24F4.2 GC08P006842 PIR50120
GH08H006876 1.1 Ensembl ENCODE 23.6 +0.2 239 1 GTF2F1 TBP CTCF MXI1 MAX CEBPG ZIC2 RAD21 RFX5 YY1 DEFB1 GC08P006842 PIR50120
GH08H006873 0.5 ENCODE 27.6 +4.0 3951 1 MAFG HNF4A EMSY DEFB1 DEFA6 PIR50120 GC08P006842
GH08H006874 0.5 ENCODE 23.7 +4.8 4811 0 MAFG HNF4A EMSY MAFK DEFB1 DEFA6 GC08P006842 PIR50120
GH08H006900 0.8 ENCODE 13 -23.3 -23339 1 SOX13 TFAP4 FOXA2 SAP130 CEBPG ZNF644 ZSCAN9 RARA TEAD3 SCRT2 DEFB1 DEFA6 DEFA4 RPL23AP96
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DEFB1 on UCSC Golden Path with GeneCards custom track

Genomic Location for DEFB1 Gene

Chromosome:
8
Start:
6,870,575 bp from pter
End:
6,878,022 bp from pter
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:

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

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
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).

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

Clone Products

  • Applied Biological Materials Clones for DEFB1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
cytoskeleton 1
nucleus 1
cytosol 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:0019898 extrinsic component of membrane IDA 23938203
GO:0070062 extracellular exosome IDA 23376485
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:0002526 acute inflammatory response IEA --
GO:0006935 chemotaxis TAS 10521347
GO:0006952 defense response IEA --
GO:0006955 immune response 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

(4) Drugs for DEFB1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(5) 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 :
(5) Additional mRNA sequences :
(42) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for DEFB1 Gene

Defensin, beta 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for DEFB1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

No ASD Table

Relevant External Links for DEFB1 Gene

GeneLoc Exon Structure for
DEFB1
ECgene alternative splicing isoforms for
DEFB1

Expression for DEFB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for DEFB1 Gene



Protein tissue co-expression partners for DEFB1 Gene

NURSA nuclear receptor signaling pathways regulating expression of DEFB1 Gene:

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(4.6)
  • Intestine(4.4)
  • Bone marrow(4.2)
  • Liver(2.5)
  • Lung(2)
genes like me logo Genes that share expression patterns with DEFB1: view

Primer Products

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 33 34
  • 99.51 (n)
dog
(Canis familiaris)
Mammalia CBD1 34
  • 61 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Defb1 34
  • 49 (a)
OneToOne
Species where no ortholog for DEFB1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for DEFB1 Gene

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

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 from dbSNP and Humsavar for DEFB1 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs1000090799 -- 6,875,247(+) CCTTA(C/T)GGAAA intron-variant
rs1000299655 -- 6,878,249(+) CACAG(G/T)GAAGC upstream-variant-2KB
rs1000313338 -- 6,879,512(+) TATAA(A/T)CCTCA upstream-variant-2KB
rs1000829281 -- 6,870,099(+) CTTTG(G/T)CATTT downstream-variant-500B
rs1000836638 -- 6,871,231(+) TCCTT(-/C)CATGC intron-variant

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)

Relevant External Links for DEFB1 Gene

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

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

Disorders for DEFB1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
endophthalmitis
tonsillitis
  • chronic tonsillitis
corneal abscess
cystic fibrosis
  • pseudomonas aeruginosa chronic infection by, in cystic fibrosis
vulvovaginal candidiasis
  • candidal vulvovaginitis
- elite association - COSMIC cancer census association via MalaCards
Search DEFB1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for DEFB1

Genetic Association Database (GAD)
DEFB1
Human Genome Epidemiology (HuGE) Navigator
DEFB1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DEFB1
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 22 60
  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 22 45 60
  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 22 45 60
  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 22 45 60
  5. Distribution of human beta-defensin polymorphisms in various control and cystic fibrosis populations. (PMID: 15820309) Vankeerberghen A … Cuppens H (Genomics 2005) 3 22 45 60

Products for DEFB1 Gene

Sources for DEFB1 Gene

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