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Entry version 123 (18 Sep 2019)
Sequence version 2 (02 Feb 2004)
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Protein

Beta-defensin 119

Gene

DEFB119

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at transcript leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Has antibacterial activity.Curated

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionAntibiotic, Antimicrobial, Defensin

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-1461957 Beta defensins
R-HSA-1461973 Defensins

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Beta-defensin 119
Alternative name(s):
Beta-defensin 120
Beta-defensin 19
Short name:
DEFB-19
Beta-defensin 20
Short name:
DEFB-20
Defensin, beta 119
Defensin, beta 120
ESC42-RELA
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:DEFB119
Synonyms:DEFB120, DEFB19, DEFB20
ORF Names:UNQ2449/PRO5729
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 20

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:18099 DEFB119

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
615997 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8N690

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Secreted

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

Open Targets

More...
OpenTargetsi
ENSG00000180483

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA38495

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
DEFB119

Domain mapping of disease mutations (DMDM)

More...
DMDMi
41713338

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 21Sequence analysisAdd BLAST21
<p>This subsection of the ‘PTM / Processing’ section describes the position and length of an active peptide in the mature protein.<p><a href='/help/peptide' target='_top'>More...</a></p>PeptideiPRO_000000698722 – 84Beta-defensin 119Add BLAST63

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi28 ↔ 55By similarity
Disulfide bondi35 ↔ 49By similarity
Disulfide bondi39 ↔ 56By similarity

Keywords - PTMi

Disulfide bond

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q8N690

PeptideAtlas

More...
PeptideAtlasi
Q8N690

PRoteomics IDEntifications database

More...
PRIDEi
Q8N690

ProteomicsDB human proteome resource

More...
ProteomicsDBi
72143 [Q8N690-1]
72144 [Q8N690-2]
72145 [Q8N690-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8N690

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q8N690

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Abundant expression in the male reproductive tract only. Abundant expressed in testis and the caput region of epididymis, but low in the corpus region.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000180483 Expressed in 70 organ(s), highest expression level in right testis

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8N690 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA043059

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the beta-defensin family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000000279

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000112157

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8N690

Identification of Orthologs from Complete Genome Data

More...
OMAi
CRPSCKK

Database of Orthologous Groups

More...
OrthoDBi
1571101at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8N690

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR025933 Beta_defensin

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF13841 Defensin_beta_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q8N690-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MKLLYLFLAI LLAIEEPVIS GKRHILRCMG NSGICRASCK KNEQPYLYCR
60 70 80
NCQSCCLQSY MRISISGKEE NTDWSYEKQW PRLP
Length:84
Mass (Da):9,822
Last modified:February 2, 2004 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i0C2828612A674AB1
GO
Isoform 2 (identifier: Q8N690-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     21-84: GKRHILRCMG...SYEKQWPRLP → VECWMDGHCR...PKMKTNITNR

Show »
Length:88
Mass (Da):10,107
Checksum:iBFFFB1573ACF71C7
GO
Isoform 3 (identifier: Q8N690-3) [UniParc]FASTAAdd to basket
Also known as: b

The sequence of this isoform differs from the canonical sequence as follows:
     21-84: GKRHILRCMG...SYEKQWPRLP → ALVRTVGCCLDTARQTPHPSMHG

Note: Abundantly expressed in testis.
Show »
Length:43
Mass (Da):4,723
Checksum:i3604F302F01FDD51
GO

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_02987121 – 84GKRHI…WPRLP → VECWMDGHCRLLCKDGEDSI IRCRNRKRCCVPSRYLTIQP VTIHGILGWTTPQMSTTAPK MKTNITNR in isoform 2. 1 PublicationAdd BLAST64
Alternative sequenceiVSP_04318821 – 84GKRHI…WPRLP → ALVRTVGCCLDTARQTPHPS MHG in isoform 3. 1 PublicationAdd BLAST64

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AY122472 mRNA Translation: AAM93914.1
AY122473 mRNA Translation: AAM93915.1
AF479698 mRNA Translation: AAQ05837.1
AY501001 mRNA Translation: AAS87295.1
AY358860 mRNA Translation: AAQ89219.1
AL031650 Genomic DNA No translation available.
AL121751 Genomic DNA No translation available.
CH471077 Genomic DNA Translation: EAW76448.1
CH471077 Genomic DNA Translation: EAW76451.1
BC062212 mRNA Translation: AAH62212.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS13178.1 [Q8N690-1]
CCDS33455.1 [Q8N690-2]

NCBI Reference Sequences

More...
RefSeqi
NP_001258138.1, NM_001271209.1
NP_695021.2, NM_153289.3 [Q8N690-1]
NP_697018.1, NM_153323.4 [Q8N690-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000339144; ENSP00000345768; ENSG00000180483 [Q8N690-3]
ENST00000376315; ENSP00000365492; ENSG00000180483 [Q8N690-2]
ENST00000376321; ENSP00000365499; ENSG00000180483 [Q8N690-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
245932

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:245932

UCSC genome browser

More...
UCSCi
uc002wvt.5 human [Q8N690-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY122472 mRNA Translation: AAM93914.1
AY122473 mRNA Translation: AAM93915.1
AF479698 mRNA Translation: AAQ05837.1
AY501001 mRNA Translation: AAS87295.1
AY358860 mRNA Translation: AAQ89219.1
AL031650 Genomic DNA No translation available.
AL121751 Genomic DNA No translation available.
CH471077 Genomic DNA Translation: EAW76448.1
CH471077 Genomic DNA Translation: EAW76451.1
BC062212 mRNA Translation: AAH62212.1
CCDSiCCDS13178.1 [Q8N690-1]
CCDS33455.1 [Q8N690-2]
RefSeqiNP_001258138.1, NM_001271209.1
NP_695021.2, NM_153289.3 [Q8N690-1]
NP_697018.1, NM_153323.4 [Q8N690-2]

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

SWISS-MODEL Interactive Workspace

More...
SWISS-MODEL-Workspacei
Submit a new modelling project...

PTM databases

iPTMnetiQ8N690
PhosphoSitePlusiQ8N690

Polymorphism and mutation databases

BioMutaiDEFB119
DMDMi41713338

Proteomic databases

MassIVEiQ8N690
PeptideAtlasiQ8N690
PRIDEiQ8N690
ProteomicsDBi72143 [Q8N690-1]
72144 [Q8N690-2]
72145 [Q8N690-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000339144; ENSP00000345768; ENSG00000180483 [Q8N690-3]
ENST00000376315; ENSP00000365492; ENSG00000180483 [Q8N690-2]
ENST00000376321; ENSP00000365499; ENSG00000180483 [Q8N690-1]
GeneIDi245932
KEGGihsa:245932
UCSCiuc002wvt.5 human [Q8N690-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
245932

GeneCards: human genes, protein and diseases

More...
GeneCardsi
DEFB119
HGNCiHGNC:18099 DEFB119
HPAiHPA043059
MIMi615997 gene
neXtProtiNX_Q8N690
OpenTargetsiENSG00000180483
PharmGKBiPA38495

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

GeneTreeiENSGT00390000000279
HOGENOMiHOG000112157
InParanoidiQ8N690
OMAiCRPSCKK
OrthoDBi1571101at2759
PhylomeDBiQ8N690

Enzyme and pathway databases

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

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
DEFB119

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
245932

Pharos

More...
Pharosi
Q8N690

Protein Ontology

More...
PROi
PR:Q8N690

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000180483 Expressed in 70 organ(s), highest expression level in right testis
GenevisibleiQ8N690 HS

Family and domain databases

InterProiView protein in InterPro
IPR025933 Beta_defensin
PfamiView protein in Pfam
PF13841 Defensin_beta_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiDB119_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8N690
Secondary accession number(s): Q5GRG1
, Q5JWP1, Q5TH42, Q8N689
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 6, 2002
Last sequence update: February 2, 2004
Last modified: September 18, 2019
This is version 123 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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