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Q8WTQ1 (D104A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 89. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:DEFB104A
Synonyms:DEFB104, DEFB4
AND
Name:DEFB104B
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length72 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

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

Subcellular location

Secreted.

Tissue specificity

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. Ref.1

Induction

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

Sequence similarities

Belongs to the beta-defensin family.

Ontologies

Keywords
   Cellular componentSecreted
   Coding sequence diversityPolymorphism
   DomainSignal
   Molecular functionAntibiotic
Antimicrobial
Defensin
   PTMDisulfide bond
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processdefense response to bacterium

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentextracellular region

Inferred from electronic annotation. Source: UniProtKB-SubCell

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2222 Potential
Peptide23 – 7250Beta-defensin 104
PRO_0000006973

Amino acid modifications

Disulfide bond30 ↔ 57 By similarity
Disulfide bond37 ↔ 51 By similarity
Disulfide bond41 ↔ 58 By similarity

Natural variations

Natural variant101I → V. Ref.1 Ref.2
Corresponds to variant rs2680507 [ dbSNP | Ensembl ].
VAR_024767

Experimental info

Sequence conflict381R → Q in AAI00851. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Q8WTQ1 [UniParc].

Last modified November 28, 2006. Version 2.
Checksum: E95B3465F2FF8DFE

FASTA728,526
        10         20         30         40         50         60 
MQRLVLLLAI SLLLYQDLPV RSEFELDRIC GYGTARCRKK CRSQEYRIGR CPNTYACCLR 

        70 
KWDESLLNRT KP 

« Hide

References

« Hide 'large scale' references
[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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS34812.1.
CCDS34834.1.
RefSeqNP_001035792.1. NM_001040702.1.
NP_525128.2. NM_080389.2.
UniGeneHs.559507.
Hs.745562.

3D structure databases

ProteinModelPortalQ8WTQ1.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000320813.

Polymorphism databases

DMDM118572637.

Proteomic databases

PRIDEQ8WTQ1.

Protocols and materials databases

DNASU140596.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000314265; ENSP00000320813; ENSG00000176782.
ENST00000316169; ENSP00000322191; ENSG00000177023.
GeneID140596.
503618.
KEGGhsa:140596.
hsa:503618.
UCSCuc003wrn.3. human.

Organism-specific databases

CTD140596.
503618.
GeneCardsGC08M007317.
GC08P007693.
HGNCHGNC:18115. DEFB104A.
HGNC:26165. DEFB104B.
HPAHPA045292.
neXtProtNX_Q8WTQ1.
PharmGKBPA142671990.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG86725.
HOGENOMHOG000010187.
HOVERGENHBG081400.
InParanoidQ8WTQ1.
OMAEYKIGRC.
OrthoDBEOG7PGDTF.
PhylomeDBQ8WTQ1.

Enzyme and pathway databases

ReactomeREACT_6900. Immune System.

Gene expression databases

BgeeQ8WTQ1.
CleanExHS_DEFB104A.
HS_DEFB104B.
HS_DEFB4.
GenevestigatorQ8WTQ1.

Family and domain databases

InterProIPR025933. Beta_defensin.
[Graphical view]
PfamPF13841. Defensin_beta_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiDEFB104A.
NextBio84173.
PROQ8WTQ1.

Entry information

Entry nameD104A_HUMAN
AccessionPrimary (citable) accession number: Q8WTQ1
Secondary accession number(s): Q496I2, Q496I3, Q496I4
Entry history
Integrated into UniProtKB/Swiss-Prot: May 27, 2002
Last sequence update: November 28, 2006
Last modified: July 9, 2014
This is version 89 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 8

Human chromosome 8: entries, gene names and cross-references to MIM