DEFA4
entrez
1669
canonical
uniprot
P12838
canonical
ensembl
ENSG00000164821
resolver
ensembl
ENSG00000285318
resolver
ensp
ENSP00000297435
resolver
ensp
ENSP00000493844
resolver
enst
ENST00000297435
resolver
enst
ENST00000642522
resolver
genesymbol
DEFA4
resolver
genesymbol_syn
DEF4
resolver
hgnc
HGNC:2763
resolver
uniprot
Q6EZF8
resolver
uniprot_entry
DEF4_HUMAN
resolver
uniprot_sec
Q6EZF8
resolver
amino_acid_sequence
MRIIALLAAILLVALQVRAGPLQARGDEAPGQEQRGPEDQDISISFAWDKSSALQVSGSTRGMVCSCRLVFCRRTELRVGNCLIGGVSFTYCCTRVD
uniprot
proteins
function
FUNCTION: Host-defense peptide that has antimicrobial activity against Gram-negative bacteria, and to a lesser extent also against Gram-positive bacteria and fungi (PubMed:15317502, PubMed:15616305, PubMed:2500436, PubMed:2501794, PubMed:30658057). Exhibits antimicrobial activity against Gram-negative E.coli and E.aerogenes and Gram-positive S.faecalis, S.aureus and B.cereus and the yeast C.albicans (in vitro) (PubMed:15317502, PubMed:15616305, PubMed:17088326, PubMed:2500436, PubMed:2501794, PubMed:30658057). Interacts with pathogenic surface proteins and toxins, such as HIV-1 surface protein gp120 and B.anthracis anthrax lethal factor lef (PubMed:15620707, PubMed:30658057). Protects blood cells against infection with HIV-1 (in vitro) (PubMed:15620707). Inhibits enzymatic activity of B.anthracis lef/anthrax lethal factor (in vitro) (PubMed:30658057). Inhibits corticotropin (ACTH)-stimulated corticosterone production (in vitro) (PubMed:2843187). {ECO:0000269|PubMed:15317502, ECO:0000269|PubMed:15616305, ECO:0000269|PubMed:15620707, ECO:0000269|PubMed:17088326, ECO:0000269|PubMed:2500436, ECO:0000269|PubMed:2501794, ECO:0000269|PubMed:2843187, ECO:0000269|PubMed:30658057}.
uniprot
proteins
mass_dalton
10504
uniprot
proteins
mutagenesis
MUTAGEN 65; /note="C->A: Impairs bactericidal activity against E.coli and S.aureus; when associated with Ala-67, Ala-72, Ala-82, Ala-92 and Ala-93."; /evidence="ECO:0000269|PubMed:30658057"; MUTAGEN 67; /note="C->A: Impairs bactericidal activity against E.coli and S.aureus; when associated with Ala-65, Ala-72, Ala-82, Ala-92 and Ala-93."; /evidence="ECO:0000269|PubMed:30658057"; MUTAGEN 69; /note="L->A: Slight decrease in antibacterial activity against E.coli."; /evidence="ECO:0000269|PubMed:30658057"; MUTAGEN 71; /note="F->A: Decreased antibacterial activity against S.aureus."; /evidence="ECO:0000269|PubMed:30658057"; MUTAGEN 72; /note="C->A: Impairs bactericidal activity against E.coli and S.aureus; when associated with Ala-65, Ala-67, Ala-82, Ala-92 and Ala-93."; /evidence="ECO:0000269|PubMed:30658057"; MUTAGEN 73; /note="R->A: Decreased antibacterial activity against E.coli. Weakens interaction with B.anthracis lef and with HIV-1 gp120."; /evidence="ECO:0000269|PubMed:30658057"; MUTAGEN 74; /note="R->A: Decreased antibacterial activity against E.coli. Weakens interaction with B.anthracis lef and with HIV-1 gp120."; /evidence="ECO:0000269|PubMed:30658057"; MUTAGEN 78; /note="R->A: Decreased antibacterial activity against E.coli and S.aureus. Weakens interaction with B.anthracis lef and with HIV-1 gp120."; /evidence="ECO:0000269|PubMed:30658057"; MUTAGEN 82; /note="C->A: Impairs bactericidal activity against E.coli and S.aureus; when associated with Ala-65, Ala-67, Ala-72, Ala-92 and Ala-93."; /evidence="ECO:0000269|PubMed:30658057"; MUTAGEN 89; /note="F->A: Impaired homodimerization. Decreased antibacterial activity against S.aureus. Disrupts interaction with B.anthracis lef and with HIV-1 gp120."; /evidence="ECO:0000269|PubMed:30658057"; MUTAGEN 91; /note="Y->A: Slight decrease in antibacterial activity against E.coli and S.aureus."; /evidence="ECO:0000269|PubMed:30658057"; MUTAGEN 92; /note="C->A: Impairs bactericidal activity against E.coli and S.aureus; when associated with Ala-65, Ala-67, Ala-72, Ala-82 and Ala-93."; /evidence="ECO:0000269|PubMed:30658057"; MUTAGEN 93; /note="C->A: Impairs bactericidal activity against E.coli and S.aureus; when associated with Ala-65, Ala-67, Ala-72, Ala-82 and Ala-92."; /evidence="ECO:0000269|PubMed:30658057"; MUTAGEN 95; /note="R->A: Slight decrease in antibacterial activity against E.coli and S.aureus."; /evidence="ECO:0000269|PubMed:30658057
uniprot
proteins
post_translational_modification
PTM: The three-dimensional structure formed by the three intramolecular disulfide bridges is indispensable for effective bacterial killing. {ECO:0000269|PubMed:17088326, ECO:0000269|PubMed:30658057}.
uniprot
proteins
protein_family
Alpha-defensin family
uniprot
proteins
pubmed
15317502
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15616305
uniprot
proteins
pubmed
15620707
uniprot
proteins
pubmed
16421571
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
17088326
uniprot
proteins
pubmed
2500436
uniprot
proteins
pubmed
2501794
uniprot
proteins
pubmed
2843187
uniprot
proteins
pubmed
30658057
uniprot
proteins
pubmed
8469233
uniprot
proteins
sequence_length
97
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted {ECO:0000250|UniProtKB:Q01523}. Cytoplasmic vesicle, secretory vesicle {ECO:0000269|PubMed:2500436, ECO:0000269|PubMed:2501794}. Note=Stored as mature peptide in neutrophil granules. {ECO:0000269|PubMed:2500436}.
uniprot
proteins