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DEFA1 (defensin alpha 1)

Identity

Alias_namesDEF1
MRS
DEFA2
defensin, alpha 2
defensin, alpha 1, myeloid-related sequence
defensin, alpha 1
Alias_symbol (synonym)HNP-1
Other aliasHP-1
HP1
HGNC (Hugo) DEFA1
LocusID (NCBI) 1667
Atlas_Id 43620
Location 8p23.1  [Link to chromosome band 8p23]
Location_base_pair Starts at 6977649 and ends at 6980092 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
DEFA1 (8p23.1) / APOA2 (1q23.3)DEFA1 (8p23.1) / DGCR8 (22q11.21)DEFA1 (8p23.1) / RNF115 (1q21.1)
WDR6 (3p21.31) / DEFA1 (8p23.1)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)DEFA1   2761
Cards
Entrez_Gene (NCBI)DEFA1  1667  defensin alpha 1
AliasesDEF1; DEFA2; HNP-1; HP-1; 
HP1; MRS
GeneCards (Weizmann)DEFA1
Ensembl hg19 (Hinxton)ENSG00000206047 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000206047 [Gene_View]  chr8:6977649-6980092 [Contig_View]  DEFA1 [Vega]
ICGC DataPortalENSG00000206047
TCGA cBioPortalDEFA1
AceView (NCBI)DEFA1
Genatlas (Paris)DEFA1
WikiGenes1667
SOURCE (Princeton)DEFA1
Genetics Home Reference (NIH)DEFA1
Genomic and cartography
GoldenPath hg38 (UCSC)DEFA1  -     chr8:6977649-6980092 -  8p23.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DEFA1  -     8p23.1   [Description]    (hg19-Feb_2009)
EnsemblDEFA1 - 8p23.1 [CytoView hg19]  DEFA1 - 8p23.1 [CytoView hg38]
Mapping of homologs : NCBIDEFA1 [Mapview hg19]  DEFA1 [Mapview hg38]
OMIM125220   
Gene and transcription
Genbank (Entrez)AL036554 AW291977 BC069423 BC093791 BC112188
RefSeq transcript (Entrez)NM_004084
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DEFA1
Cluster EST : UnigeneHs.380781 [ NCBI ]
CGAP (NCI)Hs.380781
Alternative Splicing GalleryENSG00000206047
Gene ExpressionDEFA1 [ NCBI-GEO ]   DEFA1 [ EBI - ARRAY_EXPRESS ]   DEFA1 [ SEEK ]   DEFA1 [ MEM ]
Gene Expression Viewer (FireBrowse)DEFA1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1667
GTEX Portal (Tissue expression)DEFA1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP59665   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP59665  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP59665
Splice isoforms : SwissVarP59665
PhosPhoSitePlusP59665
Domaine pattern : Prosite (Expaxy)DEFENSIN (PS00269)   
Domains : Interpro (EBI)Alpha-defensin    Alpha-defensin_pro    Defensin_beta/alpha    Defensin_propep   
Domain families : Pfam (Sanger)Defensin_1 (PF00323)    Defensin_propep (PF00879)   
Domain families : Pfam (NCBI)pfam00323    pfam00879   
Domain families : Smart (EMBL)DEFSN (SM00048)  
Conserved Domain (NCBI)DEFA1
DMDM Disease mutations1667
Blocks (Seattle)DEFA1
PDB (SRS)2KHT    2PM1    3GNY    3H6C    3HJ2    3HJD    3LO1    3LO2    3LO4    3LO6    3LO9    3LOE    3LVX    4DU0    4LB1    4LB7    4LBB    4LBF   
PDB (PDBSum)2KHT    2PM1    3GNY    3H6C    3HJ2    3HJD    3LO1    3LO2    3LO4    3LO6    3LO9    3LOE    3LVX    4DU0    4LB1    4LB7    4LBB    4LBF   
PDB (IMB)2KHT    2PM1    3GNY    3H6C    3HJ2    3HJD    3LO1    3LO2    3LO4    3LO6    3LO9    3LOE    3LVX    4DU0    4LB1    4LB7    4LBB    4LBF   
PDB (RSDB)2KHT    2PM1    3GNY    3H6C    3HJ2    3HJD    3LO1    3LO2    3LO4    3LO6    3LO9    3LOE    3LVX    4DU0    4LB1    4LB7    4LBB    4LBF   
Structural Biology KnowledgeBase2KHT    2PM1    3GNY    3H6C    3HJ2    3HJD    3LO1    3LO2    3LO4    3LO6    3LO9    3LOE    3LVX    4DU0    4LB1    4LB7    4LBB    4LBF   
SCOP (Structural Classification of Proteins)2KHT    2PM1    3GNY    3H6C    3HJ2    3HJD    3LO1    3LO2    3LO4    3LO6    3LO9    3LOE    3LVX    4DU0    4LB1    4LB7    4LBB    4LBF   
CATH (Classification of proteins structures)2KHT    2PM1    3GNY    3H6C    3HJ2    3HJD    3LO1    3LO2    3LO4    3LO6    3LO9    3LOE    3LVX    4DU0    4LB1    4LB7    4LBB    4LBF   
SuperfamilyP59665
Human Protein AtlasENSG00000206047
Peptide AtlasP59665
HPRD00499
IPIIPI00005721   
Protein Interaction databases
DIP (DOE-UCLA)P59665
IntAct (EBI)P59665
FunCoupENSG00000206047
BioGRIDDEFA1
STRING (EMBL)DEFA1
ZODIACDEFA1
Ontologies - Pathways
QuickGOP59665
Ontology : AmiGOinnate immune response in mucosa  extracellular region  extracellular space  Golgi lumen  chemotaxis  immune response  antimicrobial humoral response  antibacterial humoral response  intracellular estrogen receptor signaling pathway  extracellular matrix  killing of cells of other organism  azurophil granule lumen  neutrophil degranulation  defense response to Gram-positive bacterium  defense response to fungus  defense response to virus  antimicrobial humoral immune response mediated by antimicrobial peptide  extracellular exosome  
Ontology : EGO-EBIinnate immune response in mucosa  extracellular region  extracellular space  Golgi lumen  chemotaxis  immune response  antimicrobial humoral response  antibacterial humoral response  intracellular estrogen receptor signaling pathway  extracellular matrix  killing of cells of other organism  azurophil granule lumen  neutrophil degranulation  defense response to Gram-positive bacterium  defense response to fungus  defense response to virus  antimicrobial humoral immune response mediated by antimicrobial peptide  extracellular exosome  
NDEx NetworkDEFA1
Atlas of Cancer Signalling NetworkDEFA1
Wikipedia pathwaysDEFA1
Orthology - Evolution
OrthoDB1667
GeneTree (enSembl)ENSG00000206047
Phylogenetic Trees/Animal Genes : TreeFamDEFA1
HOVERGENP59665
HOGENOMP59665
Homologs : HomoloGeneDEFA1
Homology/Alignments : Family Browser (UCSC)DEFA1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDEFA1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DEFA1
dbVarDEFA1
ClinVarDEFA1
1000_GenomesDEFA1 
Exome Variant ServerDEFA1
ExAC (Exome Aggregation Consortium)DEFA1 (select the gene name)
Genetic variants : HAPMAP1667
Genomic Variants (DGV)DEFA1 [DGVbeta]
DECIPHERDEFA1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDEFA1 
Mutations
ICGC Data PortalDEFA1 
TCGA Data PortalDEFA1 
Broad Tumor PortalDEFA1
OASIS PortalDEFA1 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDDEFA1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch DEFA1
DgiDB (Drug Gene Interaction Database)DEFA1
DoCM (Curated mutations)DEFA1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DEFA1 (select a term)
intoGenDEFA1
Cancer3DDEFA1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM125220   
Orphanet
MedgenDEFA1
Genetic Testing Registry DEFA1
NextProtP59665 [Medical]
TSGene1667
GENETestsDEFA1
Target ValidationDEFA1
Huge Navigator DEFA1 [HugePedia]
snp3D : Map Gene to Disease1667
BioCentury BCIQDEFA1
ClinGenDEFA1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1667
Chemical/Pharm GKB GenePA27238
Clinical trialDEFA1
Miscellaneous
canSAR (ICR)DEFA1 (select the gene name)
Probes
Litterature
PubMed126 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDEFA1
EVEXDEFA1
GoPubMedDEFA1
iHOPDEFA1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:30:56 CEST 2017

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