DEFA6 (defensin alpha 6)

Gene

• Entrez ID: 1671
• Gene name: Defensin alpha 6
• Gene symbol: DEFA6
• Synonyms (NCBI Gene): DEF6, HD-6
• Chromosome: 8
• Chromosome location: 8p23.1
• Summary: 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,

Transcription factors

Transcription factor	Regulation	Reference
TCF4	Unknown	19221600

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002376	Process	Immune system process	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 31515488, 32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IEA
GO:0005796	Component	Golgi lumen	IEA
GO:0005796	Component	Golgi lumen	TAS
GO:0006952	Process	Defense response	IEA
GO:0019731	Process	Antibacterial humoral response	IBA
GO:0030133	Component	Transport vesicle	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031640	Process	Killing of cells of another organism	IDA	15616305, 17088326
GO:0031640	Process	Killing of cells of another organism	IEA
GO:0042742	Process	Defense response to bacterium	IEA
GO:0042803	Function	Protein homodimerization activity	IDA	17088326
GO:0045087	Process	Innate immune response	IBA
GO:0045087	Process	Innate immune response	IEA
GO:0050829	Process	Defense response to Gram-negative bacterium	IBA
GO:0050830	Process	Defense response to Gram-positive bacterium	IBA
GO:0050832	Process	Defense response to fungus	IEA
GO:0051673	Process	Disruption of plasma membrane integrity in another organism	IBA
GO:0061844	Process	Antimicrobial humoral immune response mediated by antimicrobial peptide	IBA
GO:0061844	Process	Antimicrobial humoral immune response mediated by antimicrobial peptide	IC	15616305
GO:0140911	Function	Pore-forming activity	IBA

Other IDs

• MIM: 600471
• HGNC: 2765
• e!Ensembl: ENSG00000164822

Protein

• UniProt ID: Q01524
• Protein name: Defensin-6 (Defensin, alpha 6)
• Protein function: Host-defense peptide that contributes to intestinal innate immunity and mediates homeostasis at mucosal surfaces by forming higher-order oligomers that capture bacteria and prevent microbial invasion of the epithelium (PubMed:15616305, PubMed:17
• PDB: 1ZMQ, 3QTE
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00879	Defensin_propep	1 → 58	Defensin propeptide	Family
  PF00323	Defensin_1	72 → 99	Mammalian defensin	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in Paneth cells of the small intestine (at protein level). {ECO:0000269|PubMed:27076903, ECO:0000269|PubMed:8417977, ECO:0000269|PubMed:8626737}.
• Sequence:

  MRTLTILTAVLLVALQAKAEPLQAEDDPLQAKAYEADAQEQRGANDQDFAVSFAEDASSS
  LRALGSTRAFTCHCRRSCYSTEYSYGTCTVMGINHRFCCL

• Sequence length: 100

Pathways

KEGG:

NOD-like receptor signaling pathway
Staphylococcus aureus infection
Transcriptional misregulation in cancer

Reactome:

Defensins
Alpha-defensins