Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Beta-defensin 104

Gene

DEFB104A

more
Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript leveli

Functioni

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

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Antibiotic, Antimicrobial, Defensin

Enzyme and pathway databases

BioCyciZFISH:ENSG00000176782-MONOMER.
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

HGNCiHGNC:18115. DEFB104A.
HGNC:26165. DEFB104B.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Organism-specific databases

DisGeNETi140596.
503618.
OpenTargetsiENSG00000176782.
ENSG00000177023.
ENSG00000277006.
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.
PRIDEiQ8WTQ1.

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

Protein-protein interaction databases

BioGridi126629. 7 interactors.
139024. 1 interactor.

Structurei

3D structure databases

ProteinModelPortaliQ8WTQ1.
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.
OMAiNTFACCL.
OrthoDBiEOG091G13QI.
PhylomeDBiQ8WTQ1.

Family and domain databases

InterProiIPR025933. Beta_defensin.
[Graphical view]
PfamiPF13841. Defensin_beta_2. 1 hit.
[Graphical view]

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 → V.2 PublicationsCorresponds to variant rs202183310dbSNPEnsembl.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:140596.
hsa:503618.
UCSCiuc003wrn.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ8WTQ1.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi126629. 7 interactors.
139024. 1 interactor.

Polymorphism and mutation databases

BioMutaiDEFB104A.
DMDMi118572637.

Proteomic databases

PaxDbiQ8WTQ1.
PRIDEiQ8WTQ1.

Protocols and materials databases

DNASUi140596.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000314265; ENSP00000320813; ENSG00000176782.
ENST00000316169; ENSP00000322191; ENSG00000177023.
ENST00000616398; ENSP00000481976; ENSG00000277006.
GeneIDi107984148.
140596.
503618.
KEGGihsa:140596.
hsa:503618.
UCSCiuc003wrn.3. human.

Organism-specific databases

CTDi140596.
503618.
DisGeNETi140596.
503618.
GeneCardsiDEFB104A.
DEFB104B.
HGNCiHGNC:18115. DEFB104A.
HGNC:26165. DEFB104B.
HPAiHPA045292.
neXtProtiNX_Q8WTQ1.
OpenTargetsiENSG00000176782.
ENSG00000177023.
ENSG00000277006.
PharmGKBiPA142671990.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410JK2A. Eukaryota.
ENOG4111CVF. LUCA.
GeneTreeiENSGT00390000017815.
HOGENOMiHOG000010187.
HOVERGENiHBG081400.
InParanoidiQ8WTQ1.
OMAiNTFACCL.
OrthoDBiEOG091G13QI.
PhylomeDBiQ8WTQ1.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000176782-MONOMER.
ReactomeiR-HSA-1461957. Beta defensins.
R-HSA-1461973. Defensins.

Miscellaneous databases

GeneWikiiDEFB104A.
PROiQ8WTQ1.

Gene expression databases

BgeeiENSG00000176782.
CleanExiHS_DEFB104A.
HS_DEFB104B.
HS_DEFB4.
GenevisibleiQ8WTQ1. HS.

Family and domain databases

InterProiIPR025933. Beta_defensin.
[Graphical view]
PfamiPF13841. Defensin_beta_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiD104A_HUMAN
AccessioniPrimary (citable) accession number: Q8WTQ1
Secondary accession number(s): Q496I2, Q496I3, Q496I4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 27, 2002
Last sequence update: November 28, 2006
Last modified: November 2, 2016
This is version 108 of the entry and version 2 of the sequence. [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. 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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.