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Protein

Neutrophil defensin 4

Gene

DEFA4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Has antimicrobial activity against Gram-negative bacteria, and to a lesser extent also against Gram-positive bacteria and fungi. Protects blood cells against infection with HIV-1 (in vitro). Inhibits corticotropin (ACTH)-stimulated corticosterone production.2 Publications

GO - Molecular functioni

  • protein homodimerization activity Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionAntibiotic, Antimicrobial, Defensin, Fungicide

Enzyme and pathway databases

ReactomeiR-HSA-1461973 Defensins
R-HSA-1462054 Alpha-defensins
R-HSA-6798695 Neutrophil degranulation

Names & Taxonomyi

Protein namesi
Recommended name:
Neutrophil defensin 4
Alternative name(s):
Defensin, alpha 4
HNP-4
Short name:
HP-4
Gene namesi
Name:DEFA4
Synonyms:DEF4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

EuPathDBiHostDB:ENSG00000164821.4
HGNCiHGNC:2763 DEFA4
MIMi601157 gene
neXtProtiNX_P12838

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Organism-specific databases

DisGeNETi1669
OpenTargetsiENSG00000164821
PharmGKBiPA27240

Polymorphism and mutation databases

BioMutaiDEFA4
DMDMi399352

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 19Sequence analysisAdd BLAST19
PropeptideiPRO_000000678120 – 63Add BLAST44
PeptideiPRO_000000678264 – 96Neutrophil defensin 4Add BLAST33
PropeptideiPRO_0000006783971

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi65 ↔ 931 Publication
Disulfide bondi67 ↔ 821 Publication
Disulfide bondi72 ↔ 921 Publication

Keywords - PTMi

Disulfide bond

Proteomic databases

PaxDbiP12838
PeptideAtlasiP12838
PRIDEiP12838
ProteomicsDBi52880

Expressioni

Gene expression databases

BgeeiENSG00000164821 Expressed in 79 organ(s), highest expression level in bone marrow
CleanExiHS_DEFA4
GenevisibleiP12838 HS

Organism-specific databases

HPAiHPA051266

Interactioni

Subunit structurei

Homodimer.1 Publication

GO - Molecular functioni

Protein-protein interaction databases

IntActiP12838, 1 interactor
STRINGi9606.ENSP00000297435

Structurei

Secondary structure

197
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP12838
SMRiP12838
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP12838

Family & Domainsi

Sequence similaritiesi

Belongs to the alpha-defensin family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiENOG410JK0K Eukaryota
ENOG41116GP LUCA
GeneTreeiENSGT00730000111183
HOGENOMiHOG000233351
HOVERGENiHBG011703
InParanoidiP12838
KOiK05230
OMAiCQRTELR
OrthoDBiEOG091G12GE
PhylomeDBiP12838
TreeFamiTF338414

Family and domain databases

InterProiView protein in InterPro
IPR006081 Alpha-defensin
IPR016327 Alpha-defensin_pro
IPR006080 Defensin_beta/alpha
IPR002366 Defensin_propep
PANTHERiPTHR11876 PTHR11876, 1 hit
PfamiView protein in Pfam
PF00323 Defensin_1, 1 hit
PF00879 Defensin_propep, 1 hit
PIRSFiPIRSF001875 Alpha-defensin, 1 hit
SMARTiView protein in SMART
SM00048 DEFSN, 1 hit
PROSITEiView protein in PROSITE
PS00269 DEFENSIN, 1 hit

Sequencei

Sequence statusi: Complete.

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

P12838-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MRIIALLAAI LLVALQVRAG PLQARGDEAP GQEQRGPEDQ DISISFAWDK
60 70 80 90
SSALQVSGST RGMVCSCRLV FCRRTELRVG NCLIGGVSFT YCCTRVD
Length:97
Mass (Da):10,504
Last modified:July 1, 1993 - v2
Checksum:iFE14334631EC2FD3
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0488618A → P. Corresponds to variant dbSNP:rs28661751Ensembl.1
Natural variantiVAR_0611328A → V. Corresponds to variant dbSNP:rs28488529Ensembl.1
Natural variantiVAR_03631574R → Q in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs762433303Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U18745 Genomic DNA Translation: AAA64488.1
AF200455 Genomic DNA Translation: AAT68877.1
CH471153 Genomic DNA Translation: EAW80486.1
BC093959 mRNA Translation: AAH93959.1
BC106747 mRNA Translation: AAI06748.1
BC112091 mRNA Translation: AAI12092.1
X65977 mRNA Translation: CAA46792.1
CCDSiCCDS5961.1
PIRiA47365
RefSeqiNP_001916.1, NM_001925.2
UniGeneiHs.591391

Genome annotation databases

EnsembliENST00000297435; ENSP00000297435; ENSG00000164821
ENST00000642522; ENSP00000493844; ENSG00000285318
GeneIDi1669
KEGGihsa:1669
UCSCiuc003wqu.2 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U18745 Genomic DNA Translation: AAA64488.1
AF200455 Genomic DNA Translation: AAT68877.1
CH471153 Genomic DNA Translation: EAW80486.1
BC093959 mRNA Translation: AAH93959.1
BC106747 mRNA Translation: AAI06748.1
BC112091 mRNA Translation: AAI12092.1
X65977 mRNA Translation: CAA46792.1
CCDSiCCDS5961.1
PIRiA47365
RefSeqiNP_001916.1, NM_001925.2
UniGeneiHs.591391

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1ZMMX-ray1.60A/B/C/D64-96[»]
ProteinModelPortaliP12838
SMRiP12838
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiP12838, 1 interactor
STRINGi9606.ENSP00000297435

Polymorphism and mutation databases

BioMutaiDEFA4
DMDMi399352

Proteomic databases

PaxDbiP12838
PeptideAtlasiP12838
PRIDEiP12838
ProteomicsDBi52880

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000297435; ENSP00000297435; ENSG00000164821
ENST00000642522; ENSP00000493844; ENSG00000285318
GeneIDi1669
KEGGihsa:1669
UCSCiuc003wqu.2 human

Organism-specific databases

CTDi1669
DisGeNETi1669
EuPathDBiHostDB:ENSG00000164821.4
GeneCardsiDEFA4
HGNCiHGNC:2763 DEFA4
HPAiHPA051266
MIMi601157 gene
neXtProtiNX_P12838
OpenTargetsiENSG00000164821
PharmGKBiPA27240
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410JK0K Eukaryota
ENOG41116GP LUCA
GeneTreeiENSGT00730000111183
HOGENOMiHOG000233351
HOVERGENiHBG011703
InParanoidiP12838
KOiK05230
OMAiCQRTELR
OrthoDBiEOG091G12GE
PhylomeDBiP12838
TreeFamiTF338414

Enzyme and pathway databases

ReactomeiR-HSA-1461973 Defensins
R-HSA-1462054 Alpha-defensins
R-HSA-6798695 Neutrophil degranulation

Miscellaneous databases

EvolutionaryTraceiP12838
GeneWikiiDEFA4
GenomeRNAii1669
PROiPR:P12838
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000164821 Expressed in 79 organ(s), highest expression level in bone marrow
CleanExiHS_DEFA4
GenevisibleiP12838 HS

Family and domain databases

InterProiView protein in InterPro
IPR006081 Alpha-defensin
IPR016327 Alpha-defensin_pro
IPR006080 Defensin_beta/alpha
IPR002366 Defensin_propep
PANTHERiPTHR11876 PTHR11876, 1 hit
PfamiView protein in Pfam
PF00323 Defensin_1, 1 hit
PF00879 Defensin_propep, 1 hit
PIRSFiPIRSF001875 Alpha-defensin, 1 hit
SMARTiView protein in SMART
SM00048 DEFSN, 1 hit
PROSITEiView protein in PROSITE
PS00269 DEFENSIN, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiDEF4_HUMAN
AccessioniPrimary (citable) accession number: P12838
Secondary accession number(s): Q6EZF8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1989
Last sequence update: July 1, 1993
Last modified: November 7, 2018
This is version 150 of the entry and version 2 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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