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Protein

Beta-defensin 118

Gene

DEFB118

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at transcript leveli

Functioni

Has antibacterial activity.Curated

GO - Biological processi

  • antimicrobial humoral immune response mediated by antimicrobial peptide Source: UniProtKB
  • cell-matrix adhesion Source: UniProtKB
  • defense response to bacterium Source: UniProtKB
  • defense response to Gram-negative bacterium Source: UniProtKB
  • innate immune response Source: UniProtKB
  • killing of cells of other organism Source: UniProtKB
  • membrane disruption in other organism Source: UniProtKB
  • spermatogenesis Source: UniProtKB

Keywordsi

Molecular functionAntibiotic, Antimicrobial, Defensin

Enzyme and pathway databases

ReactomeiR-HSA-1461957. Beta defensins.
R-HSA-1461973. Defensins.

Names & Taxonomyi

Protein namesi
Recommended name:
Beta-defensin 118
Alternative name(s):
Beta-defensin 18
Short name:
DEFB-18
Defensin, beta 118
Epididymal secretory protein 13.6
Short name:
ESP13.6
Gene namesi
Name:DEFB118
Synonyms:C20orf63, DEFB18, ESC42
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

HGNCiHGNC:16196. DEFB118.

Subcellular locationi

GO - Cellular componenti

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA27245.

Polymorphism and mutation databases

BioMutaiDEFB118.
DMDMi23813949.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 19Sequence analysisAdd BLAST19
PeptideiPRO_000000698320 – 62Beta-defensin 118Add BLAST43
PropeptideiPRO_000000698465 – 123Sequence analysisAdd BLAST59

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi27 ↔ 54By similarity
Disulfide bondi34 ↔ 48By similarity
Disulfide bondi38 ↔ 55By similarity

Keywords - PTMi

Cleavage on pair of basic residues, Disulfide bond

Proteomic databases

PaxDbiQ96PH6.
PeptideAtlasiQ96PH6.
PRIDEiQ96PH6.

PTM databases

iPTMnetiQ96PH6.
PhosphoSitePlusiQ96PH6.

Expressioni

Tissue specificityi

High-level and epididymis-specific expression. Most abundant in the epithelium of the caput and is also present in the lumen and bound to sperm. Expressed also in pancreas.1 Publication

Gene expression databases

BgeeiENSG00000131068.
CleanExiHS_DEFB118.
GenevisibleiQ96PH6. HS.

Organism-specific databases

HPAiHPA042634.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000253381.

Structurei

3D structure databases

ProteinModelPortaliQ96PH6.
SMRiQ96PH6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the beta-defensin family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiENOG410J6J5. Eukaryota.
ENOG41119QM. LUCA.
GeneTreeiENSGT00530000064565.
HOGENOMiHOG000112155.
HOVERGENiHBG051302.
InParanoidiQ96PH6.
OMAiSGHCRKQ.
OrthoDBiEOG091G0ZZH.
PhylomeDBiQ96PH6.
TreeFamiTF336381.

Family and domain databases

InterProiView protein in InterPro
IPR025933. Beta_defensin.
PANTHERiPTHR15001. PTHR15001. 1 hit.
PfamiView protein in Pfam
PF13841. Defensin_beta_2. 1 hit.
ProDomiView protein in ProDom or Entries sharing at least one domain
PD866254. PD866254. 1 hit.

Sequencei

Sequence statusi: Complete.

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

Q96PH6-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MKLLLLALPM LVLLPQVIPA YSGEKKCWNR SGHCRKQCKD GEAVKDTCKN
60 70 80 90 100
LRACCIPSNE DHRRVPATSP TPLSDSTPGI IDDILTVRFT TDYFEVSSKK
110 120
DMVEESEAGR GTETSLPNVH HSS
Length:123
Mass (Da):13,614
Last modified:December 1, 2001 - v1
Checksum:i0CBAFDB0AE459BA6
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06113356I → V. Corresponds to variant dbSNP:rs34173055Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF347073 mRNA. Translation: AAL27987.1.
AF529415 mRNA. Translation: AAQ09524.1.
AL031650 Genomic DNA. No translation available.
BC117378 mRNA. Translation: AAI17379.1.
AY122471 mRNA. Translation: AAM93913.1.
CCDSiCCDS13177.1.
RefSeqiNP_473453.1. NM_054112.2.
UniGeneiHs.274124.

Genome annotation databases

EnsembliENST00000253381; ENSP00000253381; ENSG00000131068.
GeneIDi117285.
KEGGihsa:117285.
UCSCiuc002wvr.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.

Entry informationi

Entry nameiDB118_HUMAN
AccessioniPrimary (citable) accession number: Q96PH6
Secondary accession number(s): Q17RC4, Q8N691, Q9NUH0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 10, 2002
Last sequence update: December 1, 2001
Last modified: July 5, 2017
This is version 116 of the entry and version 1 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 20
    Human chromosome 20: 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. SIMILARITY comments
    Index of protein domains and families