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Protein

Beta-defensin 104

Gene

DEFB104A

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

Functioni

Has antimicrobial activity. Synergistic effects with lysozyme and DEFB103.1 Publication

GO - Molecular functioni

  • chemoattractant activity Source: UniProtKB

GO - Biological processi

  • cellular response to phorbol 13-acetate 12-myristate Source: UniProtKB
  • defense response to bacterium Source: GO_Central
  • defense response to Gram-negative bacterium Source: UniProtKB
  • defense response to Gram-positive bacterium Source: UniProtKB
  • innate immune response Source: UniProtKB
  • monocyte chemotaxis Source: UniProtKB
  • positive chemotaxis Source: UniProtKB

Keywordsi

Molecular functionAntibiotic, Antimicrobial, Defensin

Enzyme and pathway databases

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

Names & Taxonomyi

Protein namesi
Recommended name:
Beta-defensin 104
Alternative name(s):
Beta-defensin 4
Short name:
BD-4
Short name:
DEFB-4
Short name:
hBD-4
Defensin, beta 104
Gene namesi
Name:DEFB104A
Synonyms:DEFB104, DEFB4
AND
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

EuPathDBiHostDB:ENSG00000176782.2
HostDB:ENSG00000177023.2
HGNCiHGNC:18115 DEFB104A
HGNC:26165 DEFB104B
neXtProtiNX_Q8WTQ1

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

Organism-specific databases

DisGeNETi107984148
140596
503618
OpenTargetsiENSG00000177023
PharmGKBiPA142671990

Polymorphism and mutation databases

BioMutaiDEFB104A
DMDMi118572637

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 22Sequence analysisAdd BLAST22
PeptideiPRO_000000697323 – 72Beta-defensin 104Add BLAST50

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi30 ↔ 57By similarity
Disulfide bondi37 ↔ 51By similarity
Disulfide bondi41 ↔ 58By similarity

Keywords - PTMi

Disulfide bond

Proteomic databases

PaxDbiQ8WTQ1
PeptideAtlasiQ8WTQ1
PRIDEiQ8WTQ1
ProteomicsDBi74581

PTM databases

iPTMnetiQ8WTQ1
PhosphoSitePlusiQ8WTQ1

Expressioni

Tissue specificityi

High expression in the testis. Gastric antrum exhibited relatively high levels. A lower expression is observed in uterus and neutrophils thyroid gland, lung, and kidney. No detectable expression in other tissues tested.1 Publication

Inductioni

Antimicrobial activity is decreased when the sodium chloride concentration is increased.

Gene expression databases

BgeeiENSG00000176782
CleanExiHS_DEFB104A
HS_DEFB104B
HS_DEFB4
GenevisibleiQ8WTQ1 HS

Organism-specific databases

HPAiHPA045292

Interactioni

GO - Molecular functioni

  • chemoattractant activity Source: UniProtKB

Protein-protein interaction databases

BioGridi126629, 7 interactors
139024, 1 interactor
STRINGi9606.ENSP00000322191

Structurei

Secondary structure

172
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Turni31 – 34Combined sources4
Beta strandi35 – 38Combined sources4
Beta strandi45 – 50Combined sources6
Beta strandi56 – 60Combined sources5

3D structure databases

ProteinModelPortaliQ8WTQ1
SMRiQ8WTQ1
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the beta-defensin family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiENOG410JK2A Eukaryota
ENOG4111CVF LUCA
GeneTreeiENSGT00390000017815
HOGENOMiHOG000010187
HOVERGENiHBG081400
InParanoidiQ8WTQ1
OMAiEHRIGRC
OrthoDBiEOG09370KTA
PhylomeDBiQ8WTQ1

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.

Q8WTQ1-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MQRLVLLLAI SLLLYQDLPV RSEFELDRIC GYGTARCRKK CRSQEYRIGR
60 70
CPNTYACCLR KWDESLLNRT KP
Length:72
Mass (Da):8,526
Last modified:November 28, 2006 - v2
Checksum:iE95B3465F2FF8DFE
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti38R → Q in AAI00851 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02476710I → V2 PublicationsCorresponds to variant dbSNP:rs2680507Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ314834 mRNA Translation: CAC85511.1
AJ314835 Genomic DNA Translation: CAC85520.1
BC100848 mRNA Translation: AAI00849.1
BC100849 mRNA Translation: AAI00850.1
BC100850 mRNA Translation: AAI00851.1
BC100851 mRNA Translation: AAI00852.1
CCDSiCCDS34812.1
CCDS34834.1
RefSeqiNP_001035792.1, NM_001040702.1
NP_525128.2, NM_080389.2
XP_016885975.1, XM_017030486.1
UniGeneiHs.559507
Hs.745562

Genome annotation databases

EnsembliENST00000314265; ENSP00000320813; ENSG00000176782
ENST00000316169; ENSP00000322191; ENSG00000177023
ENST00000616398; ENSP00000481976; ENSG00000277006
GeneIDi140596
503618
KEGGihsa:107984148
hsa:140596
hsa:503618
UCSCiuc003wrn.3 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiD104A_HUMAN
AccessioniPrimary (citable) accession number: Q8WTQ1
Secondary accession number(s): Q496I2, Q496I3, Q496I4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 27, 2002
Last sequence update: November 28, 2006
Last modified: July 18, 2018
This is version 122 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. SIMILARITY comments
    Index of protein domains and families

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