Version 5.4
Homo sapiens Gene: DEFA1B
Summary
InnateDB Gene IDBG-402312.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol DEFA1B
Gene Name defensin, alpha 1B
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000240247
Encoded Proteins
IDBP-6089
defensin, alpha 1B
IDBP-596112
defensin, alpha 1B
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary Defensins are a family of microbicidal 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. [provided by RefSeq, May 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 8:6996766-7018289
Strand Reverse strand
Band p23.1
Transcripts
ENST00000382689 ENSP00000372136
ENST00000535841 ENSP00000443526
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
Biological Process
GO:0002227 innate immune response in mucosa
GO:0006935 chemotaxis
GO:0006952 defense response
GO:0006955 immune response
GO:0019731 antibacterial humoral response
GO:0030520 intracellular estrogen receptor signaling pathway
GO:0031640 killing of cells of other organism
GO:0045087 innate immune response
GO:0050830 defense response to Gram-positive bacterium
GO:0050832 defense response to fungus
GO:0051607 defense response to virus
Cellular Component
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005796 Golgi lumen
GO:0031012 extracellular matrix
GO:0035578 azurophil granule lumen
GO:0070062 extracellular vesicular exosome
Orthologs
No orthologs found for this gene
Pathways
NETPATH
REACTOME
REACT_115574
Alpha-defensins pathway
REACT_115846
Defensins pathway
REACT_6802
Innate Immune System pathway
REACT_6900
Immune System pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.655903
RefSeq NM_001042500
HUGO
OMIM
CCDS CCDS43691
HPRD
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca