DEFB126
entrez
81623
canonical
uniprot
Q9BYW3
canonical
ensembl
ENSG00000125788
resolver
ensp
ENSP00000371835
resolver
enst
ENST00000382398
resolver
genesymbol
DEFB126
resolver
genesymbol_syn
C20orf8
resolver
genesymbol_syn
DEFB26
resolver
hgnc
HGNC:15900
resolver
uniprot
A0A384MDP8
resolver
uniprot
Q562G3
resolver
uniprot
Q9H1M5
resolver
uniprot_entry
A0A384MDP8_HUMAN
resolver
uniprot_entry
DB126_HUMAN
resolver
uniprot_sec
Q562G3
resolver
uniprot_sec
Q9H1M5
resolver
amino_acid_sequence
MKSLLFTLAVFMLLAQLVSGNWYVKKCLNDVGICKKKCKPEEMHVKNGWAMCGKQRDCCVPADRRANYPVFCVQTKTTRISTVTATTATTTLMMTTASMSSMAPTPVSPTG
uniprot
proteins
disease_involvement
DISEASE: Note=May be involved in infertility. Homozygosity for frameshift truncating mutations are associated with reduced sperm O-linked glycan content, impaired sperm mobility and a reduced live birth rate (PubMed:21775668, PubMed:25721098). However, for one common mutation the change in sperm sialic acid levels has been challenged (PubMed:26832966). {ECO:0000269|PubMed:21775668, ECO:0000269|PubMed:25721098, ECO:0000305|PubMed:26832966}.
uniprot
proteins
function
FUNCTION: Highly glycosylated atypical beta-defensin involved in several aspects of sperm function. Facilitates sperm transport in the female reproductive tract and contributes to sperm protection against immunodetection; both functions are probably implicating the negative surface charge provided by its O-linked oligosaccharides in the sperm glycocalyx. Involved in binding of sperm to oviductal epithelial cells to form a sperm reservoir until ovulation. Release from the sperm surface during capacitation and ovaluation by an elevation of oviductal fluid pH is unmasking other surface components and allows sperm to penetrate the cumulus matrix and bind to the zona pellucida of the oocyte (By similarity). In vitro has antimicrobial activity and may inhibit LPS-mediated inflammation (PubMed:19373462, PubMed:23229569). {ECO:0000250|UniProtKB:Q9BEE3, ECO:0000269|PubMed:19373462, ECO:0000269|PubMed:23229569}.
uniprot
proteins
mass_dalton
12174
uniprot
proteins
post_translational_modification
PTM: O-glycosylated; glycans contain alpha(2,3)-linked sialic acids. {ECO:0000269|PubMed:21775668, ECO:0000305|PubMed:26832966}.
uniprot
proteins
protein_family
Beta-defensin family
uniprot
proteins
pubmed
10491631
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
11854508
uniprot
proteins
pubmed
12620395
uniprot
proteins
pubmed
17928628
uniprot
proteins
pubmed
19373462
uniprot
proteins
pubmed
21775668
uniprot
proteins
pubmed
23229569
uniprot
proteins
pubmed
25721098
uniprot
proteins
pubmed
26832966
uniprot
proteins
sequence_length
111
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted {ECO:0000305}. Note=Secreted by epididymal cells and is absorbed to the surface of sperm during transit through the epididymis (By similarity). Mainly located on the sperm acrosome. {ECO:0000250|UniProtKB:Q9BEE3, ECO:0000269|PubMed:26832966}.
uniprot
proteins