Reviewed, UniProtKB/Swiss-Prot P60022 (DEFB1_HUMAN)

Names and origin

Protein names

Recommended name:
    Beta-defensin 1
      Short name=BD-1
      Short name=hBD-1
Alternative name(s):
    Defensin, beta 1

Gene names

Name:	DEFB1
Synonyms:	BD1, HBD1

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	68 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	Has bactericidal activity By similarity.
Subcellular location	Secreted.
Tissue specificity	Plasma.
Sequence similarities	Belongs to the beta-defensin family.
Mass spectrometry	Molecular mass is 3928±0.5 Da from positions 33 - 68. Determined by ESI. Ref.5

Ontologies

Keywords
Cellular component	Secreted
Coding sequence diversity	Polymorphism
Domain	Signal
Molecular function	Antibiotic Antimicrobial Defensin
PTM	Disulfide bond
Technical term	3D-structure Direct protein sequencing
Gene Ontology (GO)
Biological process	G-protein coupled receptor protein signaling pathway Traceable author statement. Source: ProtInc chemotaxis Traceable author statement. Source: ProtInc defense response to bacterium Inferred from electronic annotation. Source: UniProtKB-KW innate immune response Non-traceable author statement. Source: UniProtKB
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 – 21

21

Potential

Propeptide

22 – 32

11

Ref.5

PRO_0000006899

Peptide

33 – 68

36

Beta-defensin 1

PRO_0000006900

Amino acid modifications

Disulfide bond

37 ↔ 66

Disulfide bond

44 ↔ 59

Disulfide bond

49 ↔ 67

Natural variations

Natural variant

38

1

V → I: dbSNP rs2738047.

VAR_018405

Natural variant

48

1

A → V: dbSNP rs1800967.

VAR_014925

Natural variant

67

1

C → S: dbSNP rs1800968.

VAR_014926

Secondary structure

1

.

.

.

.

.

.

.

.

68

Helix Strand Turn

Details...

Helix

34 – 39

6

Beta strand

43 – 47

5

Beta strand

54 – 59

6

Turn

60 – 63

4

Sequences

	Sequence		Length	Mass (Da)
	P60022-1 [UniParc]. Last modified November 21, 2003. Version 1. Checksum: B0AB76DEC3B14F94	FASTA	68	7,420
	10 20 30 40 50 60 MRTSYLLLFT LCLLLSEMAS GGNFLTGLGH RSDHYNCVSS GGQCLYSACP IFTKIQGTCY RGKAKCCK

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The human beta-defensin-1 and alpha-defensins are encoded by adjacent genes: two peptide families with differing disulfide topology share a common ancestry." Liu L., Zhao C., Heng H.H.Q., Ganz T. Genomics 43:316-320(1997) [PubMed: 9268634] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
[2]	Zhao C. Submitted (OCT-1996) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Kidney.
[3]	"Human airway epithelia express a beta-defensin." McCray P.B. Jr., Bentley L. Am. J. Respir. Cell Mol. Biol. 16:343-349(1997) [PubMed: 9070620] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
[4]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Colon and Skin.
[5]	"hBD-1: a novel beta-defensin from human plasma." Bensch K.W., Raida M., Maegert H.-J., Schulz-Knappe P., Forssmann W.-G. FEBS Lett. 368:331-335(1995) [PubMed: 7628632] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 33-68, PROTEIN SEQUENCE OF 33-68, MASS SPECTROMETRY. Tissue: Kidney, Plasma and Vagina.
[6]	"Chemical synthesis of beta-defensins and LEAP-1/hepcidin." Kluever E., Schulz A., Forssmann W.-G., Adermann K. J. Pept. Res. 59:241-248(2002) [PubMed: 12010514] [Abstract] Cited for: SYNTHESIS OF 33-68.
[7]	"The structure of human beta-defensin-1: new insights into structural properties of beta-defensins." Hoover D.M., Chertov O., Lubkowski J. J. Biol. Chem. 276:39021-39026(2001) [PubMed: 11486002] [Abstract] Cited for: X-RAY CRYSTALLOGRAPHY (1.2 ANGSTROMS) OF 33-68.
[8]	"Structure determination of human and murine beta-defensins reveals structural conservation in the absence of significant sequence similarity." Bauer F., Schweimer K., Kluever E., Conejo-Garcia J.-R., Forssmann W.-G., Roesch P., Adermann K., Sticht H. Protein Sci. 10:2470-2479(2001) [PubMed: 11714914] [Abstract] Cited for: STRUCTURE BY NMR OF 33-68.
+	Additional computationally mapped references.

Cross-references

Sequence databases

EMBLGenBankDDBJ

U50931, U50930 Genomic DNA. Translation: AAC51728.1.
X92744 mRNA. Translation: CAA63405.1.
U73945 mRNA. Translation: AAB49758.1.
BC033298 mRNA. Translation: AAH33298.1.
BC047677 mRNA. Translation: AAH47677.1.
Z50788 mRNA. Translation: CAA90650.1.

IPI

IPI00022290.

PIR

S66282.

RefSeq

NP_005209.1.

UniGene

Hs.32949

3D structure databases

PDBPDBe

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
1E4S	NMR	-	A	33-68	[»]
1IJU	X-ray	1.40	A/B/C/D	33-68	[»]
1IJV	X-ray	1.20	A/B	33-68	[»]
1KJ5	NMR	-	A	33-68	[»]
2NLB	X-ray	1.85	A/B/C/D	33-68	[»]
2NLC	X-ray	1.65	A/B/C/D	33-68	[»]
2NLD	X-ray	1.49	A/B	33-68	[»]
2NLE	X-ray	1.35	A/B	33-68	[»]
2NLF	X-ray	1.45	A/B	33-68	[»]
2NLG	X-ray	1.65	A/B/C/D	33-68	[»]
2NLH	X-ray	1.85	A/B/C/D	33-68	[»]
2NLP	X-ray	1.85	A/B/C/D	33-68	[»]
2NLQ	X-ray	1.80	A/B/C/D	33-68	[»]
2NLS	X-ray	0.98	A	33-68	[»]
2PLZ	X-ray	1.36	A	33-67	[»]

ModBase

Search...

Protein family/group databases

TCDB

1.C.85.1.1. pore-forming &#946,-defensin (&#946,-Defensin) family.

Proteomic databases

PeptideAtlas

P60022.

PRIDE

P60022.

Genome annotation databases

Ensembl

ENSG00000164825. Homo sapiens. [Contig view]

GeneID

1672.

KEGG

hsa:1672.

Organism-specific databases

GeneCards

GC08M006715.

H-InvDB

HIX0025569.

HGNC

HGNC:2766. DEFB1.

MIM

602056. gene.

PharmGKB

PA27243.

GenAtlas

Search...

Phylogenomic databases

HOGENOM

P60022.

HOVERGEN

P60022.

OMA

P60022. GKAKCCK.

Gene expression databases

ArrayExpress

P60022.

Bgee

P60022.

CleanEx

HS_DEFB1.

GermOnline

ENSG00000164825. Homo sapiens.

Family and domain databases

InterPro

IPR001855. Defensin_beta.
[Graphical view]

Pfam

PF00711. Defensin_beta. 1 hit.
[Graphical view]

ProtoNet

Search...

Other Resources

NextBio

6880.

PMAP-CutDB

P60022.

SOURCE

Search...

Entry information

Entry name

DEFB1_HUMAN

Accession

Primary (citable) accession number: P60022
Secondary accession number(s): Q09753

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 21, 2003
Last sequence update:	November 21, 2003
Last modified:	June 16, 2009
This is version 67 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)