DEFA1B Gene
protein-coding GIFtS: 38
GCID: GC08M006843
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defensin, alpha 1B
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Aliases
for DEFA1B gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Defensin, Alpha 1B1 2 | | DEF13 | | HNP-12 3 | | DEFA23 | | HP-12 3 | | MRS3 | | HP12 3 | | Defensin, Alpha 13 | | Neutrophil Defensin 12 | | |
Export aliases for DEFA1B gene to outside databases |
Summaries
for DEFA1B gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
UniProtKB/Swiss-Prot: DEF1_HUMAN, P59665Function: Defensin 1 and defensin 2 have antibacterial, fungicide and antiviral activities. Has antimicrobial activityagainst Gram-negative and Gram-positive bacteria. Defensins are thought to kill microbes by permeabilizing theirplasma membrane
Gene Wiki entry for DEFA1B
|
Genomic Views
for DEFA1B gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| Regulatory elements:
 Search SABiosciences Regulatory transcription factor binding sites for DEFA1B
Other transcription factors
Search SABiosciences Chromatin IP Primers for DEFA1B
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DEFA1B |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 8p23.1 Ensembl cytogenetic band: 8p23.1 HGNC cytogenetic band: 8p23.1DEFA1B Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 8 GeneLoc Exon Structure GeneLoc location for GC08M006843: view genomic region
(about GC identifiers)
Start:
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6,854,288 bp from pter |
End:
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6,875,778 bp from pter |
Size:
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21,491 bases |
Orientation:
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minus strand |
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Proteins
for DEFA1B gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: DEF1_HUMAN, P59665 (See
protein sequence)Recommended Name: Neutrophil defensin 1 precursor Size: 94 amino acids; 10201 Da
Subunit: Dimer
Subcellular location: Secreted
6/14 PDB 3D structures from  and Proteopedia  for DEFA1B (see all 14):2KHT (3D)
2PM1 (3D)
3GNY (3D)
3H6C (3D)
3HJ2 (3D)
3HJD (3D)
Secondary accessions: P11479 Q14125 Q6EZF6Explore the universe of human proteins at neXtProt for DEFA1B: NX_P59665
Post-translational modifications:
ADP-ribosylation drastically reduces cytotoxic and antibacterial activities, and enhances IL8 production1
Phosphorylation at Tyr-85 has been found in some cancer cell lines, and interferes with ADP-rybosylation1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P59665
DEFA1B Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_001035965.1
ENSEMBL proteins: ENSP00000372136 ENSP00000443526 Reactome Protein details: P59665
Human Recombinant Protein Products:
Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table
DEFA1B for ontologies About GeneDecksing
DEFA1B Antibody Products:
Assay Products for DEFA1B: |
Protein
Domains /
Families
for DEFA1B gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
DEFA1B for domains About GeneDecksing
4 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry P59665ProtoNet protein and cluster: P59665 1 Blocks protein family: IPB002366 Defensin propeptide
UniProtKB/Swiss-Prot: DEF1_HUMAN, P59665Similarity: Belongs to the alpha-defensin family |
Function
for DEFA1B gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: DEF1_HUMAN, P59665Function: Defensin 1 and defensin 2 have antibacterial, fungicide and antiviral activities. Has antimicrobial activityagainst Gram-negative and Gram-positive bacteria. Defensins are thought to kill microbes by permeabilizing theirplasma membrane
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DEFA1B
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DEFA1B
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: DEFA1B (NM_001042500) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for DEFA1B | |  | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat DEFA1B |
|
Pathways & Interactions
for DEFA1B gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Cellular roles of Anthrax toxin | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1  BioSystems Pathway for DEFA1B
5/6 
Reactome Pathways for DEFA1B (see all 6)
DEFA1B for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DEFA1B
STRING Interaction
Network Preview (showing 4 interactants - click image to see more details)
5/11 Interacting proteins for DEFA1B (P596652, 3 ENSP000003721364) via UniProtKB, MINT, STRING, and/or I2D (see all 11)About this table
Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8): About this table
DEFA1B for ontologies About GeneDecksing
|
Drugs & Compounds
for DEFA1B gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for DEFA1B
Search CenterWatch for drugs/clinical trials and news about DEFA1B / DEF1
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Transcripts
for DEFA1B gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for DEFA1B gene: NM_001042500.1 2 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000382689(uc003wqx.1) ENST00000535841
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DEFA1B
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DEFA1B
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: DEFA1B (NM_001042500) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for DEFA1B | | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat DEFA1B |
GeneLoc Exon Structure
|
Expression
for DEFA1B gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| DEFA1B expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
See DEFA1B Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for DEFA1B
SABiosciences Custom PCR Arrays for DEFA1B
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DEFA1B
Browse OriGene validated miRNA SYBR primer pairs
| | | Search SABiosciences RT2 qPCR
Primer Assays in human, mouse, rat DEFA1B | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DEFA1B | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DEFA1B |
Orthologs
for DEFA1B gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
--
ENSEMBL Gene Tree for DEFA1B (if available)
TreeFam Gene Tree for DEFA1B (if available) |
Paralogs
for DEFA1B gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for DEFA1B gene
- DEFA11 2 DEFA31 2 DEFA42 DEFA62 DEFA52
5 SIMAP similar genes for DEFA1B using alignment to 1 protein entry: DEF1_HUMAN:DEFA3 DEFA4 DEFA5 DEFA6 Em
DEFA1B for paralogs About GeneDecksing
|
Genomic Variants
for DEFA1B gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 8 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for DEFA1B (6854288 - 6875778 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 18 variations for DEFA1B
15/18 CNVs (see all 18): 36854 31422 36853 0629 1442 4577 95200 36850 23226 95199 36849 70242 36858 82441 8592 | SABiosciences Cancer Mutation PCR Assays |
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Disorders
/ Diseases
for DEFA1B gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
| -- |
Publications
for DEFA1B gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for DEFA1B gene, integrated from 9 sources (see all 23):
(articles sorted by number of sources associating them with DEFA1B) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Toward understanding the cationicity of defensins. Arg and Lys versus their noncoded analogs. (PubMed id 17452329)1, 2 Zou G....Lu W. (2007)
- Antibacterial activity and specificity of the six human {alpha}-defensins. (PubMed id 15616305)1, 2 Ericksen B....Lehrer R.I. (2005)
- Copy number polymorphism and expression level variation of the human alpha-defensin genes DEFA1 and DEFA3. (PubMed id 15944200)1, 3 Aldred P.M....Armour J.A. (2005)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PubMed id 15340161)1, 2 Zhang Z. and Henzel W.J. (2004)
- Inheritance of unequal numbers of the genes encoding the human neutrophil defensins HP-1 and HP-3. (PubMed id 8530462)1, 2 Mars W.M....Saunders G.F. (1995)
- The structure of neutrophil defensin genes. (PubMed id 8325384)1, 2 Linzmeier R....Ganz T. (1993)
- The structure of neutrophil defensin genes. (PubMed id 8477861)1, 2 Linzmeier R.... Ganz T. (1993)
- NMR studies of defensin antimicrobial peptides. 1. Resonance assignment and secondary structure determination of rabbit NP-2 and human HNP-1. (PubMed id 1445872)1, 2 Zhang X.-L.... Pardi A. (1992)
- NMR studies of defensin antimicrobial peptides. 2. Three-dimensional structures of rabbit NP-2 and human HNP-1. (PubMed id 1445873)1, 2 Pardi A.... Yip P.F. (1992)
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External Searches for DEFA1B gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
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Genome Databases showing DEFA1B gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing DEFA1B gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing DEFA1B gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for DEFA1B | Pharmacogenomics, SNPs, Pathways |
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| | |
About This Section
| Patent Information for DEFA1B gene:
Search GeneIP for patents involving DEFA1B
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for DEFA1B gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
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 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for DEFA1B | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DEFA1B | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DEFA1B | | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for DEFA1B | | OriGene 3'-UTR Clone for DEFA1B | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DEFA1B | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DEFA1B | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for DEFA1B | | OriGene Custom Protein Services for DEFA1B | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat DEFA1B | | | Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DEFA1B | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DEFA1B | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DEFA1B | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DEFA1B | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DEFA1B |
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 |  |  |  | |
| | | | Search Tocris compounds for DEFA1B |
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 | | | DEFA1B Proteins, Antibodies, CLIAs, and ELISAs |
| | | |  |  |  | | | | Search ThermoFisher Antibodies for DEFA1B |
| | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat DEFA1B |
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