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Aliases for DEFA1B Gene

Aliases for DEFA1B Gene

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

External Ids for DEFA1B Gene

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 Defensins and Defensins. An important paralog of this gene is DEFA3.

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

Start:
6,996,766 bp from pter
End:
7,018,289 bp from pter
Size:
21,524 bases
Orientation:
Minus strand

Genomic View for DEFA1B Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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.

    Three dimensional structures from OCA and Proteopedia for DEFA1B Gene

neXtProt entry for DEFA1B Gene

Proteomics data for DEFA1B Gene at MOPED

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:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for DEFA1B Gene

Domains for DEFA1B Gene

Gene Families for DEFA1B Gene

HGNC:
  • DEFA :Defensins, alpha

Protein Domains 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
Family:
  • Belongs to the alpha-defensin family.:
    • P59665
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.

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

Localization for DEFA1B Gene

Subcellular locations from UniProtKB/Swiss-Prot for DEFA1B Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DEFA1B Gene COMPARTMENTS Subcellular localization image for DEFA1B gene
Compartment Confidence
extracellular 5
golgi apparatus 4
lysosome 4
vacuole 4
plasma membrane 1

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 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
2 Reactome pathways for DEFA1B Gene

Interacting Proteins for DEFA1B Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000372136%0d%0a9606.ENSP00000276816%0d%0a
Selected Interacting proteins: P59665-DEF1_HUMAN ENSP00000372136 for DEFA1B Gene via MINT STRING I2D

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 --
GO:0006955 immune response TAS 10914484
GO:0019731 antibacterial humoral response IDA 12860195
genes like me logo Genes that share ontologies with DEFA1B: view

Transcripts for DEFA1B Gene

mRNA/cDNA for DEFA1B Gene

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

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 for DEFA1B Gene

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

This gene is overexpressed in Whole Blood (49.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for DEFA1B Gene

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

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 36
  • 68 (a)
OneToMany
Species with no ortholog for DEFA1B:
  • 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

Selected 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 MAF
rs2615780 -- 6,999,498(-) GAGGC(C/T)TTAAA upstream-variant-2KB
rs2979392 -- 6,999,640(-) TCATT(A/G)CTTTT upstream-variant-2KB
rs2979393 -- 6,999,639(-) CATTG(C/G)TTTTT upstream-variant-2KB
rs2979394 -- 6,999,569(-) GTGTG(C/T)AGGTG upstream-variant-2KB
rs28505638 -- 7,000,946(+) CAGTA(C/T)ATGTT upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv465436 CNV Gain 19166990
esv2752262 CNV Gain 17911159
dgv7656n71 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
nsv831221 CNV Gain 17160897
nsv509248 CNV Insertion 20534489
nsv890068 CNV Gain 21882294
nsv6060 CNV Loss 18451855
nsv21 CNV Loss 15895083
nsv890069 CNV Gain 21882294
nsv527917 CNV Gain 19592680
esv21544 CNV Gain+Loss 19812545
nsv820476 CNV Duplication 20802225
nsv8278 CNV Gain+Loss 18304495
nsv515096 CNV Complex 21397061
nsv471499 CNV Duplication 19718026
nsv437041 CNV Loss 16327808
esv2736554 CNV Deletion 23290073
nsv435861 CNV Deletion 17901297
nsv482118 CNV Gain 20164927
nsv6064 CNV Insertion 18451855
nsv890070 CNV Loss 21882294
nsv890071 CNV Gain 21882294
nsv482119 CNV Gain 20164927

Relevant External Links for DEFA1B Gene

HapMap Linkage Disequilibrium report
DEFA1B

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

Disorders for DEFA1B Gene

No disorders were found for DEFA1B Gene.

No data available for UniProtKB/Swiss-Prot for DEFA1B Gene

Publications for DEFA1B Gene

  1. Isolation and characterization of human defensin cDNA clones. (PMID: 3174637) Daher K.A. … Kronenberg M. (Proc. Natl. Acad. Sci. U.S.A. 1988) 3 4
  2. A myeloid-related sequence that localizes to human chromosome 8q21.1- 22. (PMID: 3370315) Mars W.M. … Saunders G.F. (Blood 1988) 3 4
  3. Primary structures of three human neutrophil defensins. (PMID: 4056036) Selsted M.E. … Lehrer R.I. (J. Clin. Invest. 1985) 3 4
  4. The structure of neutrophil defensin genes. (PMID: 8325384) Linzmeier R. … Ganz T. (FEBS Lett. 1993) 3 4
  5. The structure of neutrophil defensin genes. (PMID: 8477861) Linzmeier R. … Ganz T. (FEBS Lett. 1993) 3 4

Products for DEFA1B Gene

Sources for DEFA1B Gene

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