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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

  1. defense response to bacterium Source: GO_Central
  2. innate immune response Source: GO_Central
Complete GO annotation...

Keywords - Molecular functioni

Antibiotic, Antimicrobial, Defensin

Enzyme and pathway databases

ReactomeiREACT_115846. Defensins.
REACT_115897. Beta 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
ProteomesiUP000005640 Componentsi: Chromosome 8, Unplaced

Organism-specific databases

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

Subcellular locationi

GO - Cellular componenti

  1. cell surface Source: GO_Central
  2. extracellular region Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142671990.

Polymorphism and mutation databases

BioMutaiDEFB104A.
DMDMi118572637.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2222Sequence AnalysisAdd
BLAST
Peptidei23 – 7250Beta-defensin 104PRO_0000006973Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi30 ↔ 57By similarity
Disulfide bondi37 ↔ 51By similarity
Disulfide bondi41 ↔ 58By similarity

Keywords - PTMi

Disulfide bond

Proteomic databases

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

BgeeiQ8WTQ1.
CleanExiHS_DEFB104A.
HS_DEFB104B.
HS_DEFB4.
GenevestigatoriQ8WTQ1.

Organism-specific databases

HPAiHPA045292.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000320813.

Family & Domainsi

Sequence similaritiesi

Belongs to the beta-defensin family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiNOG86725.
GeneTreeiENSGT00390000017815.
HOGENOMiHOG000010187.
HOVERGENiHBG081400.
InParanoidiQ8WTQ1.
OMAiEYKIGRC.
OrthoDBiEOG7PGDTF.
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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti38 – 381R → Q in AAI00851 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti10 – 101I → V.2 Publications
Corresponds to variant rs2680507 [ dbSNP | Ensembl ].
VAR_024767

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.
UniGeneiHs.559507.
Hs.745562.

Genome annotation databases

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

Polymorphism and mutation databases

BioMutaiDEFB104A.

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.
UniGeneiHs.559507.
Hs.745562.

3D structure databases

ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000320813.

Polymorphism and mutation databases

BioMutaiDEFB104A.
DMDMi118572637.

Proteomic databases

PRIDEiQ8WTQ1.

Protocols and materials databases

DNASUi140596.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi140596.
503618.
GeneCardsiGC08M007317.
GC08P007693.
HGNCiHGNC:18115. DEFB104A.
HGNC:26165. DEFB104B.
HPAiHPA045292.
neXtProtiNX_Q8WTQ1.
PharmGKBiPA142671990.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG86725.
GeneTreeiENSGT00390000017815.
HOGENOMiHOG000010187.
HOVERGENiHBG081400.
InParanoidiQ8WTQ1.
OMAiEYKIGRC.
OrthoDBiEOG7PGDTF.
PhylomeDBiQ8WTQ1.

Enzyme and pathway databases

ReactomeiREACT_115846. Defensins.
REACT_115897. Beta defensins.

Miscellaneous databases

GeneWikiiDEFB104A.
NextBioi84173.
PROiQ8WTQ1.

Gene expression databases

BgeeiQ8WTQ1.
CleanExiHS_DEFB104A.
HS_DEFB104B.
HS_DEFB4.
GenevestigatoriQ8WTQ1.

Family and domain databases

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

Publicationsi

« Hide 'large scale' publications
  1. "Human beta-defensin 4: a novel inducible peptide with a specific salt-sensitive spectrum of antimicrobial activity."
    Conejo-Garcia J.-R., Krause A., Schulz S., Rodriguez-Jimenez F.-J., Kluever E., Adermann K., Forssmann U., Frimpong-Boateng A., Bals R., Forssmann W.-G.
    FASEB J. 15:1819-1821(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], FUNCTION, VARIANT VAL-10, TISSUE SPECIFICITY.
    Tissue: Lung.
  2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT VAL-10.

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: April 29, 2015
This is version 97 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

External Data

Dasty 3

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 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.