Q01523 (DEF5_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Defensin-5

Alternative name(s):
Defensin, alpha 5
HD5(20-94)

Cleaved into the following 4 chains:

1. HD5(23-94)
2. HD5(29-94)
3. HD5(56-94)
4. HD5(63-94)

Gene names

Name:	DEFA5
Synonyms:	DEF5

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	94 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 antimicrobial activity against Gram-negative and Gram-positive bacteria. Defensins are thought to kill microbes by permeabilizing their plasma membrane. All DEFA5 peptides exert antimicrobial activities, but their potency is affected by peptide processing. Ref.5 Ref.6 Ref.7
Subunit structure	Homodimer. Ref.7
Subcellular location	Secreted. Cytoplasmic vesicle › secretory vesicle. Note: Peptides HD5(20-94), HD5(23-94) and HD5(29-94) are found within tissues, HD5(20-94) being the predominant intracellular form. Peptides HD5(56-94) and HD5(63-94) are found in the extracellular milieu, HD5(63-94) being the most abundant form. Ref.5
Tissue specificity	Paneth cells of the small intestine (at protein level). Ref.5
Post-translational modification	Glycosylated. Ref.5
Sequence similarities	Belongs to the alpha-defensin family.

Ontologies

Keywords
Cellular component	Cytoplasmic vesicle Secreted
Coding sequence diversity	Polymorphism
Domain	Signal
Molecular function	Antibiotic Antimicrobial Defensin Fungicide
PTM	Disulfide bond Glycoprotein
Technical term	3D-structure Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological_process	defense response to bacterium Inferred from electronic annotation. Source: UniProtKB-KW defense response to fungus Inferred from electronic annotation. Source: UniProtKB-KW innate immune response Traceable author statement. Source: Reactome killing of cells of other organism Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	Golgi lumen Traceable author statement. Source: Reactome extracellular region Traceable author statement. Source: Reactome extracellular space Inferred from electronic annotation. Source: InterPro secretory granule Traceable author statement. Source: Reactome transport vesicle 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 – 19

19

Peptide

20 – 94

75

Defensin-5

PRO_0000006787

Peptide

23 – 94

72

HD5(23-94)

PRO_0000417387

Peptide

29 – 94

66

HD5(29-94)

PRO_0000417388

Peptide

56 – 94

39

HD5(56-94)

PRO_0000417389

Peptide

63 – 94

32

HD5(63-94)

PRO_0000417390

Amino acid modifications

Disulfide bond

65 ↔ 93

Ref.7

Disulfide bond

67 ↔ 82

Ref.7

Disulfide bond

72 ↔ 92

Ref.7

Natural variations

Natural variant

71

1

R → H.
Corresponds to variant rs7839771 [ dbSNP | Ensembl ].

VAR_059245

Secondary structure

1

.

.

.

.

.

.

.

94

Helix Strand Turn

Details...

Beta strand

65 – 70

6

Beta strand

76 – 82

7

Beta strand

89 – 93

5

Sequences

	Sequence		Length	Mass (Da)
	Q01523 [UniParc]. Last modified July 1, 1993. Version 1. Checksum: 19B5B00B6BAF90DA	FASTA	94	10,071
	10 20 30 40 50 60 MRTIAILAAI LLVALQAQAE SLQERADEAT TQKQSGEDNQ DLAISFAGNG LSALRTSGSQ 70 80 90 ARATCYCRTG RCATRESLSG VCEISGRLYR LCCR

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Paneth cells of the human small intestine express an antimicrobial peptide gene." Jones D.E., Bevins C.L. J. Biol. Chem. 267:23216-23225(1992) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]. Tissue: Intestine.
[2]	"DNA sequence and analysis of human chromosome 8." Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T. , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S. Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[5]	"Paneth cell trypsin is the processing enzyme for human defensin-5." Ghosh D., Porter E., Shen B., Lee S.K., Wilk D., Drazba J., Yadav S.P., Crabb J.W., Ganz T., Bevins C.L. Nat. Immunol. 3:583-590(2002) [PubMed] [Europe PMC] [Abstract] Cited for: PARTIAL PROTEIN SEQUENCE, FUNCTION, PEPTIDE CHARACTERIZATION, GLYCOSYLATION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
[6]	"Antibacterial activity and specificity of the six human alpha-defensins." Ericksen B., Wu Z., Lu W., Lehrer R.I. Antimicrob. Agents Chemother. 49:269-275(2005) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION.
[7]	"Crystal structures of human alpha-defensins HNP4, HD5, and HD6." Szyk A., Wu Z., Tucker K., Yang D., Lu W., Lubkowski J. Protein Sci. 15:2749-2760(2006) [PubMed] [Europe PMC] [Abstract] Cited for: X-RAY CRYSTALLOGRAPHY (1.65 ANGSTROMS) OF 63-94, FUNCTION, SUBUNIT, DISULFIDE BONDS.
+	Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

M97925 Genomic DNA. Translation: AAA35754.1.
AF238378 Genomic DNA. Translation: AAT68886.1.
CH471153 Genomic DNA. Translation: EAW80489.1.
BC069690 mRNA. Translation: AAH69690.1.
BC107079 mRNA. Translation: AAI07080.1.

IPI

IPI00008298.

PIR

A44454.

RefSeq

NP_066290.1. NM_021010.1.

UniGene

Hs.655233.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
1ZMP	X-ray	1.65	A/B/C/D	63-94	[»]
2LXZ	NMR	-	A	63-94	[»]
3I5W	X-ray	1.63	A/B	63-94	[»]
4E82	X-ray	1.70	A/B	63-94	[»]
4E83	X-ray	1.90	A/B	63-94	[»]
4E86	X-ray	2.75	A/B/C/D/E/F/G/H/L	63-94	[»]

ProteinModelPortal

Q01523.

ModBase

Search...

Protein-protein interaction databases

IntAct

Q01523. 1 interaction.

STRING

9606.ENSP00000329890.

Polymorphism databases

DMDM

399353.

Proteomic databases

PaxDb

Q01523.

PeptideAtlas

Q01523.

PRIDE

Q01523.

Protocols and materials databases

DNASU

1670.

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000330590; ENSP00000329890; ENSG00000164816.

GeneID

1670.

KEGG

hsa:1670.

UCSC

uc003wra.1. human.

Organism-specific databases

CTD

1670.

GeneCards

GC08M006900.

HGNC

HGNC:2764. DEFA5.

HPA

HPA015775.

MIM

600472. gene.

neXtProt

NX_Q01523.

PharmGKB

PA27241.

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG69207.

HOGENOM

HOG000233351.

HOVERGEN

HBG011703.

InParanoid

Q01523.

KO

K05230.

OMA

QSGEDNQ.

OrthoDB

EOG4GF3GT.

PhylomeDB

Q01523.

Enzyme and pathway databases

Reactome

REACT_6900. Immune System.

Gene expression databases

Bgee

Q01523.

CleanEx

HS_DEFA5.

Genevestigator

Q01523.

GermOnline

ENSG00000164816. Homo sapiens.

Family and domain databases

InterPro

IPR016327. Alpha-defensin.
IPR006080. Defensin_beta/neutrophil.
IPR002366. Defensin_propep.
IPR006081. Mammalian_defensins.
[Graphical view]

PANTHER

PTHR11876. PTHR11876. 1 hit.

Pfam

PF00323. Defensin_1. 1 hit.
PF00879. Defensin_propep. 1 hit.
[Graphical view]

PIRSF

PIRSF001875. Alpha-defensin. 1 hit.

SMART

SM00048. DEFSN. 1 hit.
[Graphical view]

PROSITE

PS00269. DEFENSIN. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

ChiTaRS

DEFA5. human.

EvolutionaryTrace

Q01523.

GenomeRNAi

1670.

NextBio

6872.

PMAP-CutDB

Q01523.

SOURCE

Search...

Entry information

Entry name

DEF5_HUMAN

Accession

Primary (citable) accession number: Q01523
Secondary accession number(s): A0JDY6, Q3KNV2

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 1, 1993
Last sequence update:	July 1, 1993
Last modified:	May 1, 2013
This is version 109 of the entry and version 1 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.