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Aliases for DEFB1 Gene

Aliases for DEFB1 Gene

  • Defensin, Beta 1 2 3 4
  • Beta-Defensin 1 2 3
  • Beta Defensin 1 2 3
  • BD-1 3 4
  • HBD1 3 4
  • BD1 3 4
  • Beta-Defensin-1 3
  • 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 localized scleroderma and corneal abscess. Among its related pathways are Defensins and Defensins.

UniProtKB/Swiss-Prot for DEFB1 Gene

  • Has bactericidal activity.

Gene Wiki entry for DEFB1 Gene

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

Genomics for DEFB1 Gene

Regulatory Elements for DEFB1 Gene

Genomic Location for DEFB1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for DEFB1 Gene

neXtProt entry for DEFB1 Gene

Proteomics data for DEFB1 Gene at MOPED

Post-translational modifications for DEFB1 Gene

No Post-translational modifications

Other Protein References for DEFB1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for DEFB1 Gene

Domains for DEFB1 Gene

Gene Families for DEFB1 Gene

HGNC:
  • DEFB :Defensins, beta

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 :
  • P60022
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.

Phenotypes for DEFB1 Gene

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

Animal Models for DEFB1 Gene

MGI Knock Outs for DEFB1:

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , miRNA , Transcription Factor Targeting and HOMER Transcription for DEFB1 Gene

Localization for DEFB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DEFB1 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DEFB1 Gene COMPARTMENTS Subcellular localization image for DEFB1 gene
Compartment Confidence
extracellular 5
golgi apparatus 4
nucleus 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:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with DEFB1: view

Pathways for DEFB1 Gene

SuperPathways for DEFB1 Gene

Superpath Contained pathways
1 Defensins
.80
genes like me logo Genes that share pathways with DEFB1: view

Pathways by source for DEFB1 Gene

2 Reactome pathways 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 --
GO:0006955 immune response TAS 10521347
genes like me logo Genes that share ontologies with DEFB1: view

Compounds for DEFB1 Gene

(9) Novoseek inferred chemical compound relationships for DEFB1 Gene

Compound -log(P) Hits PubMed IDs
hbd2 95.2 46
polymyxin b 35.1 3
dexamethasone 4.41 6
glucose 4.1 5
nacl 2.79 1
genes like me logo Genes that share compounds with DEFB1: view

Transcripts for DEFB1 Gene

mRNA/cDNA for DEFB1 Gene

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

Unigene Clusters for DEFB1 Gene

Defensin, beta 1:
Representative Sequences:

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 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 (20.7), Kidney - Cortex (14.5), and Pancreas (6.8).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for DEFB1 Gene

SOURCE GeneReport for Unigene cluster for DEFB1 Gene Hs.32949

mRNA Expression by UniProt/SwissProt for DEFB1 Gene

P60022-DEFB1_HUMAN
Tissue specificity: Plasma
genes like me logo Genes that share expressions with DEFB1: view

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 35
  • 99.51 (n)
  • 100 (a)
DEFB1 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CBD1 36
  • 61 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Defb1 16
Defb1 36
  • 49 (a)
OneToOne
Species with no ortholog for DEFB1:
  • 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

Selected 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 MAF
rs11362 -- 6,877,877(-) TCCTG(A/G)GTGTT utr-variant-5-prime
rs767423 -- 6,871,416(+) GATCT(C/G)ATAAA intron-variant
rs951133 -- 6,871,853(+) AAATA(A/C)ATTTC intron-variant
rs1047031 -- 6,870,676(-) AGCTG(A/G)GAGTG utr-variant-3-prime
rs1344197 -- 6,871,364(+) CATAG(G/T)TTTTT intron-variant

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

Variant ID Type Subtype PubMed ID
esv2422383 CNV Duplication 17116639
nsv831220 CNV Gain 17160897
nsv465436 CNV Gain 19166990
esv2752262 CNV Gain 17911159
nsv465437 CNV Gain 19166990
nsv890061 CNV Loss 21882294
dgv7656n71 CNV Gain 21882294
nsv890064 CNV Gain 21882294
dgv7657n71 CNV Gain 21882294
nsv428194 CNV Gain+Loss 18775914
nsv528374 CNV Gain 19592680
dgv2190e1 CNV Complex 17122850
essv14510 CNV CNV 17122850
dgv2191e1 CNV Complex 17122850

Relevant External Links for DEFB1 Gene

HapMap Linkage Disequilibrium report
DEFB1
Human Gene Mutation Database (HGMD)
DEFB1

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

Disorders for DEFB1 Gene

(2) University of Copenhagen DISEASES for DEFB1 Gene

(35) Novoseek inferred disease relationships for DEFB1 Gene

Disease -log(P) Hits PubMed IDs
bronchoalveolar lavage fluid 52.1 3
chronic tonsillitis 51 1
bacterial infections 49.5 5
chronic periodontitis 48.9 4
cystic fibrosis 45.5 5

Relevant External Links for DEFB1

Genetic Association Database (GAD)
DEFB1
Human Genome Epidemiology (HuGE) Navigator
DEFB1
genes like me logo Genes that share disorders with DEFB1: view

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

Publications for DEFB1 Gene

  1. hBD-1: a novel beta-defensin from human plasma. (PMID: 7628632) Bensch K.W. … Forssmann W.-G. (FEBS Lett. 1995) 2 3 4 23
  2. Human airway epithelia express a beta-defensin. (PMID: 9070620) McCray P.B. Jr. … Bentley L. (Am. J. Respir. Cell Mol. Biol. 1997) 3 4 23
  3. The human beta-defensin-1 and alpha-defensins are encoded by adjacent genes: two peptide families with differing disulfide topology share a common ancestry. (PMID: 9268634) Liu L. … Ganz T. (Genomics 1997) 3 4 23
  4. The structure of human beta-defensin-1: new insights into structural properties of beta-defensins. (PMID: 11486002) Hoover D.M. … Lubkowski J. (J. Biol. Chem. 2001) 3 4 23
  5. Genetic variants of human beta-defensin-1 and chronic obstructive pulmonary disease. (PMID: 11829455) Matsushita I. … Keicho N. (Biochem. Biophys. Res. Commun. 2002) 3 23 48

Products for DEFB1 Gene

  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Cell Death PathwayFinder in human,mouse,rat
    • Molecular Toxicology PathwayFinder 384HT in human,mouse,rat
    • Necrosis in human,mouse,rat
  • QIAGEN qRT-PCR Assays for microRNAs that regulate DEFB1
    • QuantiTect SYBR Green Assays in human,mouse,rat
    • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
    • QuantiFast Probe-based Assays in human,mouse,rat
    • Predesigned siRNA for gene silencing in human,mouse,rat for DEFB1
    • Block miRNA regulation of DEFB1 using miScript Target Protectors

    Sources for DEFB1 Gene

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