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Q01523

- DEF5_HUMAN

UniProt

Q01523 - DEF5_HUMAN

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Protein
Defensin-5
Gene
DEFA5, DEF5
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

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.3 Publications

GO - Biological processi

  1. antibacterial humoral response Source: UniProt
  2. defense response to fungus Source: UniProtKB-KW
  3. innate immune response Source: UniProt
  4. killing of cells of other organism Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Antibiotic, Antimicrobial, Defensin, Fungicide

Enzyme and pathway databases

ReactomeiREACT_115574. Alpha-defensins.
REACT_115846. Defensins.

Names & Taxonomyi

Protein namesi
Recommended name:
Defensin-5
Alternative name(s):
Defensin, alpha 5
HD5(20-94)
Cleaved into the following 4 chains:
Gene namesi
Name:DEFA5
Synonyms:DEF5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 8

Organism-specific databases

HGNCiHGNC:2764. DEFA5.

Subcellular locationi

Secreted. Cytoplasmic vesiclesecretory 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.1 Publication

GO - Cellular componenti

  1. Golgi lumen Source: Reactome
  2. extracellular region Source: Reactome
  3. extracellular space Source: InterPro
  4. secretory granule lumen Source: Reactome
  5. transport vesicle Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasmic vesicle, Secreted

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA27241.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 1919
Add
BLAST
Peptidei20 – 9475Defensin-5
PRO_0000006787Add
BLAST
Peptidei23 – 9472HD5(23-94)
PRO_0000417387Add
BLAST
Peptidei29 – 9466HD5(29-94)
PRO_0000417388Add
BLAST
Peptidei56 – 9439HD5(56-94)
PRO_0000417389Add
BLAST
Peptidei63 – 9432HD5(63-94)
PRO_0000417390Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi65 ↔ 931 Publication
Disulfide bondi67 ↔ 821 Publication
Disulfide bondi72 ↔ 921 Publication

Post-translational modificationi

Glycosylated.1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ01523.
PeptideAtlasiQ01523.
PRIDEiQ01523.

Miscellaneous databases

PMAP-CutDBQ01523.

Expressioni

Tissue specificityi

Paneth cells of the small intestine (at protein level).1 Publication

Gene expression databases

BgeeiQ01523.
CleanExiHS_DEFA5.
GenevestigatoriQ01523.

Organism-specific databases

HPAiHPA015775.

Interactioni

Subunit structurei

Homodimer.1 Publication

Protein-protein interaction databases

BioGridi108034. 1 interaction.
IntActiQ01523. 1 interaction.
STRINGi9606.ENSP00000329890.

Structurei

Secondary structure

Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi65 – 706
Beta strandi76 – 827
Beta strandi89 – 935

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1ZMPX-ray1.65A/B/C/D63-94[»]
2LXZNMR-A63-94[»]
3I5WX-ray1.63A/B63-94[»]
4E82X-ray1.70A/B63-94[»]
4E83X-ray1.90A/B63-94[»]
4E86X-ray2.75A/B/C/D/E/F/G/H/L63-94[»]
ProteinModelPortaliQ01523.
SMRiQ01523. Positions 63-94.

Miscellaneous databases

EvolutionaryTraceiQ01523.

Family & Domainsi

Sequence similaritiesi

Belongs to the alpha-defensin family.

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiNOG69207.
HOGENOMiHOG000233351.
HOVERGENiHBG011703.
InParanoidiQ01523.
KOiK05230.
OMAiQSGEDNQ.
OrthoDBiEOG75TMFQ.
PhylomeDBiQ01523.
TreeFamiTF338414.

Family and domain databases

InterProiIPR016327. Alpha-defensin.
IPR006080. Defensin_beta/neutrophil.
IPR002366. Defensin_propep.
IPR006081. Mammalian_defensins.
[Graphical view]
PANTHERiPTHR11876. PTHR11876. 1 hit.
PfamiPF00323. Defensin_1. 1 hit.
PF00879. Defensin_propep. 1 hit.
[Graphical view]
PIRSFiPIRSF001875. Alpha-defensin. 1 hit.
SMARTiSM00048. DEFSN. 1 hit.
[Graphical view]
PROSITEiPS00269. DEFENSIN. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q01523-1 [UniParc]FASTAAdd to Basket

« Hide

MRTIAILAAI LLVALQAQAE SLQERADEAT TQKQSGEDNQ DLAISFAGNG   50
LSALRTSGSQ ARATCYCRTG RCATRESLSG VCEISGRLYR LCCR 94
Length:94
Mass (Da):10,071
Last modified:July 1, 1993 - v1
Checksum:i19B5B00B6BAF90DA
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti71 – 711R → H.
Corresponds to variant rs7839771 [ dbSNP | Ensembl ].
VAR_059245

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS5963.1.
PIRiA44454.
RefSeqiNP_066290.1. NM_021010.1.
UniGeneiHs.655233.

Genome annotation databases

EnsembliENST00000330590; ENSP00000329890; ENSG00000164816.
GeneIDi1670.
KEGGihsa:1670.
UCSCiuc003wra.1. human.

Polymorphism databases

DMDMi399353.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS5963.1.
PIRi A44454.
RefSeqi NP_066290.1. NM_021010.1.
UniGenei Hs.655233.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
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 [» ]
ProteinModelPortali Q01523.
SMRi Q01523. Positions 63-94.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 108034. 1 interaction.
IntActi Q01523. 1 interaction.
STRINGi 9606.ENSP00000329890.

Polymorphism databases

DMDMi 399353.

Proteomic databases

PaxDbi Q01523.
PeptideAtlasi Q01523.
PRIDEi Q01523.

Protocols and materials databases

DNASUi 1670.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000330590 ; ENSP00000329890 ; ENSG00000164816 .
GeneIDi 1670.
KEGGi hsa:1670.
UCSCi uc003wra.1. human.

Organism-specific databases

CTDi 1670.
GeneCardsi GC08M006900.
HGNCi HGNC:2764. DEFA5.
HPAi HPA015775.
MIMi 600472. gene.
neXtProti NX_Q01523.
PharmGKBi PA27241.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG69207.
HOGENOMi HOG000233351.
HOVERGENi HBG011703.
InParanoidi Q01523.
KOi K05230.
OMAi QSGEDNQ.
OrthoDBi EOG75TMFQ.
PhylomeDBi Q01523.
TreeFami TF338414.

Enzyme and pathway databases

Reactomei REACT_115574. Alpha-defensins.
REACT_115846. Defensins.

Miscellaneous databases

ChiTaRSi DEFA5. human.
EvolutionaryTracei Q01523.
GeneWikii DEFA5.
GenomeRNAii 1670.
NextBioi 6872.
PMAP-CutDB Q01523.
PROi Q01523.
SOURCEi Search...

Gene expression databases

Bgeei Q01523.
CleanExi HS_DEFA5.
Genevestigatori Q01523.

Family and domain databases

InterProi IPR016327. Alpha-defensin.
IPR006080. Defensin_beta/neutrophil.
IPR002366. Defensin_propep.
IPR006081. Mammalian_defensins.
[Graphical view ]
PANTHERi PTHR11876. PTHR11876. 1 hit.
Pfami PF00323. Defensin_1. 1 hit.
PF00879. Defensin_propep. 1 hit.
[Graphical view ]
PIRSFi PIRSF001875. Alpha-defensin. 1 hit.
SMARTi SM00048. DEFSN. 1 hit.
[Graphical view ]
PROSITEi PS00269. DEFENSIN. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. 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.

Entry informationi

Entry nameiDEF5_HUMAN
AccessioniPrimary (citable) accession number: Q01523
Secondary accession number(s): A0JDY6, Q3KNV2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 1, 1993
Last sequence update: July 1, 1993
Last modified: September 3, 2014
This is version 119 of the entry and version 1 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

3D-structure, Complete proteome, Direct protein sequencing, 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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