DEFA3

Protein-coding gene in the species Homo sapiens
Defensin 3, dimer, Human.
DEFA3
Available structures
PDBHuman UniProt search: PDBe RCSB
List of PDB id codes

1DFN, 1ZMH, 1ZMI, 1ZMK, 2PM4, 2PM5

Identifiers
AliasesDEFA3, DEF3, HNP-3, HNP3, HP-3, HP3, defensin alpha 3
External IDsOMIM: 604522; HomoloGene: 128756; GeneCards: DEFA3; OMA:DEFA3 - orthologs
Gene location (Human)
Chromosome 8 (human)
Chr.Chromosome 8 (human)[1]
Chromosome 8 (human)
Genomic location for DEFA3
Genomic location for DEFA3
Band8p23.1Start7,015,869 bp[1]
End7,018,297 bp[1]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • bone marrow

  • bone marrow cells

  • monocyte

  • granulocyte

  • right lung

  • blood

  • spleen

  • upper lobe of left lung

  • placenta

  • right lobe of liver
    n/a
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
  • protein homodimerization activity
  • molecular function
Cellular component
  • extracellular region
  • extracellular exosome
  • azurophil granule lumen
  • Golgi lumen
  • extracellular space
Biological process
  • defense response to fungus
  • intracellular estrogen receptor signaling pathway
  • defense response to bacterium
  • innate immune response in mucosa
  • defense response
  • defense response to virus
  • antimicrobial humoral response
  • antimicrobial humoral immune response mediated by antimicrobial peptide
  • killing of cells of other organism
  • antibacterial humoral response
  • defense response to Gram-negative bacterium
  • defense response to Gram-positive bacterium
  • membrane disruption in other organism
  • cellular response to lipopolysaccharide
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

1668

n/a

Ensembl

ENSG00000239839
ENSG00000284835

n/a

UniProt

P59666

n/a

RefSeq (mRNA)

NM_005217

n/a

RefSeq (protein)

NP_005208

n/a

Location (UCSC)Chr 8: 7.02 – 7.02 Mbn/a
PubMed search[2]n/a
Wikidata
View/Edit HumanView/Edit Mouse

Defensin, alpha 3 (DEFA3) also known as human alpha defensin 3, human neutrophil peptide 3 (HNP-3) or neutrophil defensin 3 is a human protein that is encoded by the DEFA3 gene.[3] Human alpha defensin 3 belongs to the alpha defensin family of antimicrobial peptides.

Function

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. Several alpha defensin genes are clustered on chromosome 8. The protein encoded by this gene, defensin, alpha 3, 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 peptide differs from defensin, alpha 1 by only one amino acid. This gene and the gene encoding defensin, alpha 1 are both subject to copy number variation.[3]

References

  1. ^ a b c ENSG00000284835 GRCh38: Ensembl release 89: ENSG00000239839, ENSG00000284835 – Ensembl, May 2017
  2. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. ^ a b "Entrez Gene: defensin".

Further reading

  • Kocsis AK, Ocsovszky I, Tiszlavicz L, et al. (2009). "Helicobacter pylori induces the release of alpha-defensin by human granulocytes". Inflamm. Res. 58 (5): 241–7. doi:10.1007/s00011-008-8100-z. PMID 19169650. S2CID 29257427.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Aldred PM, Hollox EJ, Armour JA (2005). "Copy number polymorphism and expression level variation of the human alpha-defensin genes DEFA1 and DEFA3". Hum. Mol. Genet. 14 (14): 2045–52. doi:10.1093/hmg/ddi209. PMID 15944200.
  • v
  • t
  • e
  • 1zmh: Crystal structure of human neutrophil peptide 2, HNP-2 (variant Gly16-> D-Ala)
    1zmh: Crystal structure of human neutrophil peptide 2, HNP-2 (variant Gly16-> D-Ala)
  • 1zmk: Crystal structure of human alpha-defensin-2 (variant Gly16-> D-ALA), P 42 21 2 space group
    1zmk: Crystal structure of human alpha-defensin-2 (variant Gly16-> D-ALA), P 42 21 2 space group
  • 2pm4: Human alpha-defensin 1 (multiple Arg->Lys mutant)
    2pm4: Human alpha-defensin 1 (multiple Arg->Lys mutant)
  • 2pm5: Human alpha-defensin 1 derivative (HNP1)
    2pm5: Human alpha-defensin 1 derivative (HNP1)
  • 1dfn: CRYSTAL STRUCTURE OF DEFENSIN HNP-3, AN AMPHIPHILIC DIMER: MECHANISMS OF MEMBRANE PERMEABILIZATION
    1dfn: CRYSTAL STRUCTURE OF DEFENSIN HNP-3, AN AMPHIPHILIC DIMER: MECHANISMS OF MEMBRANE PERMEABILIZATION
  • 2pm1: Derivative of human alpha-defensin 1 (HNP1)
    2pm1: Derivative of human alpha-defensin 1 (HNP1)
  • 1zmi: Crystal structure of human alpha_defensin-2 (variant GLY16->D-ALA), P 32 2 1 space group )
    1zmi: Crystal structure of human alpha_defensin-2 (variant GLY16->D-ALA), P 32 2 1 space group )

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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