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Protein

Beta-defensin 104

Gene

DEFB104A

more
Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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.

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.

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

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5KI9X-ray1.60A23-65[»]
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:rs202183310Ensembl.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.
GeneIDi107984148.
140596.
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: November 22, 2017
This is version 117 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