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Protein

Beta-defensin 126

Gene

DEFB126

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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).By similarity2 Publications

GO - Biological processi

Keywordsi

Molecular functionAntibiotic, Antimicrobial, Defensin
Biological processFertilization

Enzyme and pathway databases

ReactomeiR-HSA-1461957 Beta defensins
R-HSA-1461973 Defensins

Names & Taxonomyi

Protein namesi
Recommended name:
Beta-defensin 126
Alternative name(s):
Beta-defensin 26
Short name:
DEFB-26
Defensin, beta 126
Epididymal secretory protein 13.2
Short name:
ESP13.2
HBD261 Publication
Gene namesi
Name:DEFB126
Synonyms:C20orf8, DEFB26
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

EuPathDBiHostDB:ENSG00000125788.5
HGNCiHGNC:15900 DEFB126
neXtProtiNX_Q9BYW3

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

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).1 Publication2 Publications

Organism-specific databases

DisGeNETi81623
OpenTargetsiENSG00000125788
PharmGKBiPA27246

Polymorphism and mutation databases

BioMutaiDEFB126
DMDMi61252638

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 20Sequence analysisAdd BLAST20
ChainiPRO_000043629921 – 111Beta-defensin 126Add BLAST91

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi27 ↔ 58By similarity
Disulfide bondi34 ↔ 52By similarity
Disulfide bondi38 ↔ 59By similarity
Disulfide bondi72InterchainBy similarity

Post-translational modificationi

O-glycosylated; glycans contain alpha(2,3)-linked sialic acids.1 Publication1 Publication

Keywords - PTMi

Cleavage on pair of basic residues, Disulfide bond

Proteomic databases

PaxDbiQ9BYW3
PeptideAtlasiQ9BYW3
PRIDEiQ9BYW3
ProteomicsDBi79733

Expressioni

Tissue specificityi

High-level and epididymis-specific expression. Expression is down-regulated in infertile men.1 Publication

Gene expression databases

BgeeiENSG00000125788 Expressed in 25 organ(s), highest expression level in corpus epididymis
CleanExiHS_DEFB126
GenevisibleiQ9BYW3 HS

Interactioni

Subunit structurei

Homodimer or homooligomer; disulfide-linked.By similarityCurated

Protein-protein interaction databases

IntActiQ9BYW3, 1 interactor
STRINGi9606.ENSP00000371835

Structurei

3D structure databases

ProteinModelPortaliQ9BYW3
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni21 – 63In vitro binds to LPS, mediates antimicrobial activity and inhibits LPS-mediated inflammation1 PublicationAdd BLAST43

Sequence similaritiesi

Belongs to the beta-defensin family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiENOG410J7HN Eukaryota
ENOG4111ED2 LUCA
GeneTreeiENSGT00390000012226
HOGENOMiHOG000112158
HOVERGENiHBG051309
InParanoidiQ9BYW3
OMAiICKKKCK
OrthoDBiEOG091G15ON
PhylomeDBiQ9BYW3

Family and domain databases

InterProiView protein in InterPro
IPR025933 Beta_defensin
PANTHERiPTHR15001 PTHR15001, 1 hit
PfamiView protein in Pfam
PF13841 Defensin_beta_2, 1 hit

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q9BYW3-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MKSLLFTLAV FMLLAQLVSG NWYVKKCLND VGICKKKCKP EEMHVKNGWA
60 70 80 90 100
MCGKQRDCCV PADRRANYPV FCVQTKTTRI STVTATTATT TLMMTTASMS
110
SMAPTPVSPT G
Length:111
Mass (Da):12,174
Last modified:March 15, 2005 - v2
Checksum:i956E77CB6812A32D
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti3S → F in CAC27121 (PubMed:10491631).Curated1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ236910 mRNA Translation: CAC27121.1
AF525928 mRNA Translation: AAP47221.1
AL360078 Genomic DNA No translation available.
AY122478 mRNA Translation: AAM93919.1
CCDSiCCDS12990.1
RefSeqiNP_112193.1, NM_030931.3
UniGeneiHs.124211

Genome annotation databases

EnsembliENST00000382398; ENSP00000371835; ENSG00000125788
GeneIDi81623
KEGGihsa:81623
UCSCiuc002wcx.5 human

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ236910 mRNA Translation: CAC27121.1
AF525928 mRNA Translation: AAP47221.1
AL360078 Genomic DNA No translation available.
AY122478 mRNA Translation: AAM93919.1
CCDSiCCDS12990.1
RefSeqiNP_112193.1, NM_030931.3
UniGeneiHs.124211

3D structure databases

ProteinModelPortaliQ9BYW3
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ9BYW3, 1 interactor
STRINGi9606.ENSP00000371835

Polymorphism and mutation databases

BioMutaiDEFB126
DMDMi61252638

Proteomic databases

PaxDbiQ9BYW3
PeptideAtlasiQ9BYW3
PRIDEiQ9BYW3
ProteomicsDBi79733

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000382398; ENSP00000371835; ENSG00000125788
GeneIDi81623
KEGGihsa:81623
UCSCiuc002wcx.5 human

Organism-specific databases

CTDi81623
DisGeNETi81623
EuPathDBiHostDB:ENSG00000125788.5
GeneCardsiDEFB126
HGNCiHGNC:15900 DEFB126
neXtProtiNX_Q9BYW3
OpenTargetsiENSG00000125788
PharmGKBiPA27246
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410J7HN Eukaryota
ENOG4111ED2 LUCA
GeneTreeiENSGT00390000012226
HOGENOMiHOG000112158
HOVERGENiHBG051309
InParanoidiQ9BYW3
OMAiICKKKCK
OrthoDBiEOG091G15ON
PhylomeDBiQ9BYW3

Enzyme and pathway databases

ReactomeiR-HSA-1461957 Beta defensins
R-HSA-1461973 Defensins

Miscellaneous databases

GeneWikiiDEFB126
GenomeRNAii81623
PROiPR:Q9BYW3

Gene expression databases

BgeeiENSG00000125788 Expressed in 25 organ(s), highest expression level in corpus epididymis
CleanExiHS_DEFB126
GenevisibleiQ9BYW3 HS

Family and domain databases

InterProiView protein in InterPro
IPR025933 Beta_defensin
PANTHERiPTHR15001 PTHR15001, 1 hit
PfamiView protein in Pfam
PF13841 Defensin_beta_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiDB126_HUMAN
AccessioniPrimary (citable) accession number: Q9BYW3
Secondary accession number(s): Q562G3, Q9H1M5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 10, 2002
Last sequence update: March 15, 2005
Last modified: November 7, 2018
This is version 110 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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