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Aliases for DEFA1B Gene

Aliases for DEFA1B Gene

  • Defensin Alpha 1B 2 3 5
  • HNP-1 3 4
  • HP-1 3 4
  • HP1 3 4
  • Neutrophil Defensin 1 3
  • Defensin, Alpha 1B 2
  • Defensin, Alpha 1 4
  • DEFA1 DEFA1B 4
  • DEFA2 4
  • DEF1 4
  • MRS 4

External Ids for DEFA1B Gene

Previous GeneCards Identifiers for DEFA1B Gene

  • GC08M006843
  • GC08M006854

Summaries for DEFA1B Gene

Entrez Gene Summary for DEFA1B Gene

  • Defensins are a family of antimicrobial and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. The protein encoded by this gene, defensin, alpha 1, is found in the microbicidal granules of neutrophils and likely plays a role in phagocyte-mediated host defense. Several alpha defensin genes are clustered on chromosome 8. This gene differs from defensin, alpha 3 by only one amino acid. This gene and the gene encoding defensin, alpha 3 are both subject to copy number variation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2014]

GeneCards Summary for DEFA1B Gene

DEFA1B (Defensin Alpha 1B) is a Protein Coding gene. Among its related pathways are Immune System and Defensins. An important paralog of this gene is DEFA1.

UniProtKB/Swiss-Prot for DEFA1B Gene

  • Defensin 1 and defensin 2 have antibacterial, fungicide and antiviral activities. Has antimicrobial activity against Gram-negative and Gram-positive bacteria. Defensins are thought to kill microbes by permeabilizing their plasma membrane.

Gene Wiki entry for DEFA1B Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DEFA1B Gene

Genomics for DEFA1B Gene

Genomic Location for DEFA1B Gene

Chromosome:
8
Start:
6,996,766 bp from pter
End:
6,999,202 bp from pter
Size:
2,437 bases
Orientation:
Minus strand

Genomic View for DEFA1B Gene

Genes around DEFA1B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DEFA1B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DEFA1B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DEFA1B Gene

No data available for Regulatory Elements for DEFA1B Gene

Proteins for DEFA1B Gene

  • Protein details for DEFA1B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P59665-DEF1_HUMAN
    Recommended name:
    Neutrophil defensin 1
    Protein Accession:
    P59665
    Secondary Accessions:
    • P11479
    • Q14125
    • Q6EZF6

    Protein attributes for DEFA1B Gene

    Size:
    94 amino acids
    Molecular mass:
    10201 Da
    Quaternary structure:
    • Dimer.
    • Dimer.

    Three dimensional structures from OCA and Proteopedia for DEFA1B Gene

neXtProt entry for DEFA1B Gene

Post-translational modifications for DEFA1B Gene

  • ADP-ribosylation drastically reduces cytotoxic and antibacterial activities, and enhances IL8 production.
  • Phosphorylation at Tyr-85 has been found in some cancer cell lines, and interferes with ADP-ribosylation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DEFA1B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DEFA1B Gene

Domains & Families for DEFA1B Gene

Gene Families for DEFA1B Gene

Suggested Antigen Peptide Sequences for DEFA1B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P59665

UniProtKB/Swiss-Prot:

DEF1_HUMAN :
  • Belongs to the alpha-defensin family.
Family:
  • Belongs to the alpha-defensin family.
genes like me logo Genes that share domains with DEFA1B: view

Function for DEFA1B Gene

Molecular function for DEFA1B Gene

UniProtKB/Swiss-Prot Function:
Defensin 1 and defensin 2 have antibacterial, fungicide and antiviral activities. Has antimicrobial activity against Gram-negative and Gram-positive bacteria. Defensins are thought to kill microbes by permeabilizing their plasma membrane.

Phenotypes for DEFA1B Gene

genes like me logo Genes that share phenotypes with DEFA1B: view

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for DEFA1B Gene

Localization for DEFA1B Gene

Subcellular locations from UniProtKB/Swiss-Prot for DEFA1B Gene

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 DEFA1B gene
Compartment Confidence
extracellular 5
lysosome 4
golgi apparatus 4

Gene Ontology (GO) - Cellular Components for DEFA1B 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:0031012 colocalizes_with extracellular matrix IDA 20551380
GO:0035578 azurophil granule lumen TAS --
genes like me logo Genes that share ontologies with DEFA1B: view

Pathways & Interactions for DEFA1B Gene

genes like me logo Genes that share pathways with DEFA1B: view

Pathways by source for DEFA1B Gene

1 BioSystems pathway for DEFA1B Gene
4 Reactome pathways for DEFA1B Gene

Interacting Proteins for DEFA1B Gene

Gene Ontology (GO) - Biological Process for DEFA1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002227 innate immune response in mucosa IDA 12860195
GO:0006935 chemotaxis TAS 10914484
GO:0006952 defense response IEA --
GO:0006955 immune response TAS 10914484
GO:0019731 antibacterial humoral response IDA 12860195
genes like me logo Genes that share ontologies with DEFA1B: view

No data available for SIGNOR curated interactions for DEFA1B Gene

Transcripts for DEFA1B Gene

mRNA/cDNA for DEFA1B Gene

(2) REFSEQ mRNAs :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DEFA1B Gene

No ASD Table

Relevant External Links for DEFA1B Gene

GeneLoc Exon Structure for
DEFA1B
ECgene alternative splicing isoforms for
DEFA1B

Expression for DEFA1B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DEFA1B Gene

mRNA differential expression in normal tissues according to GTEx for DEFA1B Gene

This gene is overexpressed in Whole Blood (x49.1).

Protein differential expression in normal tissues from HIPED for DEFA1B Gene

This gene is overexpressed in Neutrophil (34.0) and Blymphocyte (15.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DEFA1B Gene



Protein tissue co-expression partners for DEFA1B Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DEFA1B Gene:

DEFA1B
genes like me logo Genes that share expression patterns with DEFA1B: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for DEFA1B Gene

Orthologs for DEFA1B Gene

This gene was present in the common ancestor of human and chimp.

Orthologs for DEFA1B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DEFA4 35
  • 68 (a)
OneToMany
Species where no ortholog for DEFA1B 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)
  • dog (Canis familiaris)
  • 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)
  • mouse (Mus musculus)
  • 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 DEFA1B Gene

ENSEMBL:
Gene Tree for DEFA1B (if available)
TreeFam:
Gene Tree for DEFA1B (if available)

Paralogs for DEFA1B Gene

Paralogs for DEFA1B Gene

(5) SIMAP similar genes for DEFA1B Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with DEFA1B: view

Variants for DEFA1B Gene

Sequence variations from dbSNP and Humsavar for DEFA1B Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs113548638 -- 6,998,422(+) TGTAT(A/C)TTTAT intron-variant
rs113591177 -- 6,998,471(+) TAAAT(C/T)TTTAT intron-variant
rs138397567 -- 6,996,519(+) ACACG(C/G)GAGCT downstream-variant-500B
rs138733735 -- 6,997,109(+) AGCCG(G/T)TAGCA intron-variant
rs139043610 -- 6,998,919(+) TGTGT(G/T)TTTAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DEFA1B Gene

Variant ID Type Subtype PubMed ID
dgv6882n100 CNV gain 25217958
esv21544 CNV gain+loss 19812545
esv2736554 CNV deletion 23290073
esv2752262 CNV gain 17911159
esv2759589 CNV gain+loss 17122850
esv2764122 CNV loss 21179565
esv3358388 CNV duplication 20981092
esv3378620 CNV duplication 20981092
esv3412390 CNV duplication 20981092
esv3576520 CNV gain 25503493
nsv1015244 CNV gain 25217958
nsv1031577 CNV gain 25217958
nsv1141567 CNV duplication 24896259
nsv1151676 CNV deletion 26484159
nsv21 CNV deletion 15895083
nsv428194 CNV gain+loss 18775914
nsv435861 CNV deletion 17901297
nsv437041 CNV loss 16327808
nsv465436 CNV gain 19166990
nsv471499 CNV gain 19718026
nsv482118 CNV gain 20164927
nsv509248 CNV insertion 20534489
nsv515096 CNV gain 21397061
nsv527917 CNV gain 19592680
nsv528374 CNV gain 19592680
nsv6060 CNV deletion 18451855
nsv610006 CNV gain 21841781
nsv610010 CNV gain 21841781
nsv610018 CNV loss 21841781
nsv610025 CNV loss 21841781
nsv820476 CNV duplication 20802225
nsv8278 CNV gain+loss 18304495
dgv6881n100 CNV gain 25217958
dgv6880n100 CNV loss 25217958
dgv6879n100 CNV gain 25217958
dgv6878n100 CNV gain 25217958
dgv3758n106 CNV deletion 24896259
dgv2034e212 CNV loss 25503493
dgv2033e212 CNV loss 25503493
dgv2032e212 CNV loss 25503493
dgv11910n54 CNV loss 21841781
dgv11908n54 CNV gain 21841781
dgv11907n54 CNV loss 21841781
nsv831221 CNV gain 17160897
nsv950282 CNV duplication 24416366
nsv967552 CNV duplication 23825009
nsv981903 CNV duplication 23825009

Relevant External Links for DEFA1B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DEFA1B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for DEFA1B Gene

Disorders for DEFA1B Gene

Relevant External Links for DEFA1B

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DEFA1B

No disorders were found for DEFA1B Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for DEFA1B Gene

Publications for DEFA1B Gene

  1. Toward understanding the cationicity of defensins. Arg and Lys versus their noncoded analogs. (PMID: 17452329) Zou G. … Lu W. (J. Biol. Chem. 2007) 3 4 64
  2. Copy number polymorphism and expression level variation of the human alpha-defensin genes DEFA1 and DEFA3. (PMID: 15944200) Aldred P.M. … Armour J.A. (Hum. Mol. Genet. 2005) 2 3 64
  3. Antibacterial activity and specificity of the six human alpha- defensins. (PMID: 15616305) Ericksen B. … Lehrer R.I. (Antimicrob. Agents Chemother. 2005) 3 4 64
  4. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PMID: 15340161) Zhang Z. … Henzel W.J. (Protein Sci. 2004) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for DEFA1B Gene

Sources for DEFA1B Gene

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