Q8WTQ1 (D104A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	DEFB104A
Synonyms:	DEFB104, DEFB4
AND
Name:	DEFB104B

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	72 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence 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 component	Secreted
Coding sequence diversity	Polymorphism
Domain	Signal
Molecular function	Antibiotic Antimicrobial Defensin
PTM	Disulfide bond
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	defense response to bacterium Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	extracellular region Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 22	22	Potential
	Peptide	23 – 72	50	Beta-defensin 104		PRO_0000006973
Amino acid modifications
	Disulfide bond	30 ↔ 57		By similarity
	Disulfide bond	37 ↔ 51		By similarity
	Disulfide bond	41 ↔ 58		By similarity
Natural variations
	Natural variant	10	1	I → V. Ref.1 Ref.2 Corresponds to variant rs2680507 [ dbSNP | Ensembl ].		VAR_024767
Experimental info
	Sequence conflict	38	1	R → Q in AAI00851. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Q8WTQ1 [UniParc]. Last modified November 28, 2006. Version 2. Checksum: E95B3465F2FF8DFE	FASTA	72	8,526
	10 20 30 40 50 60 MQRLVLLLAI SLLLYQDLPV RSEFELDRIC GYGTARCRKK CRSQEYRIGR CPNTYACCLR 70 KWDESLLNRT KP

References

	« Hide 'large scale' referencesShow '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.
IPI	IPI00102797.
RefSeq	NP_001035792.1. NM_001040702.1. NP_525128.2. NM_080389.2.
UniGene	Hs.559507. Hs.742246.
3D structure databases
ProteinModelPortal	Q8WTQ1.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000320813.
Proteomic databases
PRIDE	Q8WTQ1.
Protocols and materials databases
DNASU	140596.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000314265; ENSP00000320813; ENSG00000176782. ENST00000316169; ENSP00000322191; ENSG00000177023.
GeneID	140596. 503618.
KEGG	hsa:140596. hsa:503618.
UCSC	uc003wrn.3. human.
Organism-specific databases
CTD	140596. 503618.
GeneCards	GC08M007317. GC08P007693.
HGNC	HGNC:18115. DEFB104A. HGNC:26165. DEFB104B.
HPA	HPA045292.
neXtProt	NX_Q8WTQ1.
PharmGKB	PA142671990.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG86725.
HOGENOM	HOG000010187.
HOVERGEN	HBG081400.
InParanoid	Q8WTQ1.
OMA	EYKIGRC.
OrthoDB	EOG42JNT2.
PhylomeDB	Q8WTQ1.
Enzyme and pathway databases
Reactome	REACT_6900. Immune System.
Gene expression databases
Bgee	Q8WTQ1.
CleanEx	HS_DEFB104A. HS_DEFB104B. HS_DEFB4.
Genevestigator	Q8WTQ1.
GermOnline	ENSG00000176782. Homo sapiens. ENSG00000177023. Homo sapiens.
Family and domain databases
InterPro	IPR025933. Beta_defensin. [Graphical view]
Pfam	PF13841. Defensin_beta_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	84173.

Entry information

Entry name

D104A_HUMAN

Accession

Primary (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:	April 3, 2013
This is version 83 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.