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Q8WTQ1

- D104A_HUMAN

UniProt

Q8WTQ1 - D104A_HUMAN

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Protein

Beta-defensin 104

Gene

DEFB104A

more
Organism
Homo sapiens (Human)
Status
Reviewed - 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: UniProtKB-KW
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: Chromosome 8

Organism-specific databases

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

Subcellular locationi

GO - Cellular componenti

  1. extracellular region Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142671990.

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.

Structurei

3D structure databases

ProteinModelPortaliQ8WTQ1.
ModBaseiSearch...
MobiDBiSearch...

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:
EMBL
GenBank
DDBJ
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.
GeneIDi140596.
503618.
KEGGihsa:140596.
hsa:503618.
UCSCiuc003wrn.3. human.

Polymorphism databases

DMDMi118572637.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS34812.1.
CCDS34834.1.
RefSeqi NP_001035792.1. NM_001040702.1.
NP_525128.2. NM_080389.2.
UniGenei Hs.559507.
Hs.745562.

3D structure databases

ProteinModelPortali Q8WTQ1.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000320813.

Polymorphism databases

DMDMi 118572637.

Proteomic databases

PRIDEi Q8WTQ1.

Protocols and materials databases

DNASUi 140596.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000314265 ; ENSP00000320813 ; ENSG00000176782 .
ENST00000316169 ; ENSP00000322191 ; ENSG00000177023 .
GeneIDi 140596.
503618.
KEGGi hsa:140596.
hsa:503618.
UCSCi uc003wrn.3. human.

Organism-specific databases

CTDi 140596.
503618.
GeneCardsi GC08M007317.
GC08P007693.
HGNCi HGNC:18115. DEFB104A.
HGNC:26165. DEFB104B.
HPAi HPA045292.
neXtProti NX_Q8WTQ1.
PharmGKBi PA142671990.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG86725.
GeneTreei ENSGT00390000017815.
HOGENOMi HOG000010187.
HOVERGENi HBG081400.
InParanoidi Q8WTQ1.
OMAi EYKIGRC.
OrthoDBi EOG7PGDTF.
PhylomeDBi Q8WTQ1.

Enzyme and pathway databases

Reactomei REACT_115846. Defensins.
REACT_115897. Beta defensins.

Miscellaneous databases

GeneWikii DEFB104A.
NextBioi 84173.
PROi Q8WTQ1.

Gene expression databases

Bgeei Q8WTQ1.
CleanExi HS_DEFB104A.
HS_DEFB104B.
HS_DEFB4.
Genevestigatori Q8WTQ1.

Family and domain databases

InterProi IPR025933. Beta_defensin.
[Graphical view ]
Pfami PF13841. Defensin_beta_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

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: October 29, 2014
This is version 92 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