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    DEFA1 defensin alpha 1 [ Homo sapiens (human) ]

    Gene ID: 1667, updated on 15-Jun-2019

    Summary

    Official Symbol
    DEFA1provided by HGNC
    Official Full Name
    defensin alpha 1provided by HGNC
    Primary source
    HGNC:HGNC:2761
    See related
    Ensembl:ENSG00000206047 MIM:125220
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HP1; MRS; DEF1; HP-1; DEFA2; HNP-1
    Summary
    Defensins are a family of antimicrobial and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. The protein encoded by this gene, defensin, alpha 1, is found in the microbicidal granules of neutrophils and likely plays a role in phagocyte-mediated host defense. Several alpha defensin genes are clustered on chromosome 8. This gene differs from defensin, alpha 3 by only one amino acid. This gene and the gene encoding defensin, alpha 3 are both subject to copy number variation. [provided by RefSeq, Oct 2014]
    Expression
    Restricted expression toward bone marrow (RPKM 27404.8) See more
    Orthologs

    Genomic context

    See DEFA1 in Genome Data Viewer
    Location:
    8p23.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 8 NC_000008.11 (6977649..6980120, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (6835171..6837614, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene defensin alpha 9, pseudogene Neighboring gene defensin alpha 10, pseudogene Neighboring gene defensin theta 1, pseudogene Neighboring gene defensin alpha 1B

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Genome-wide association study of chronic periodontitis in a general German population.
    NHGRI GWA Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Human alpha-defensin (HNP-1) slows down the HIV-1 Env (gp120/gp41) binding to CXCR4 but not CD4 or CCR5 on the kinetics of HIV-1 entry PubMed
    env Dimerization of HNP-1 is important for HNP-1 to bind HIV-1 gp120. W26A mutation abolishes the interaction between HNP-1 and gp120 PubMed
    env Human neutrophil alpha-defensin 4 (HNP4) is more effective than HNP1-3 in protecting human peripheral blood mononuclear cells from infection by both CXCR4- and CCR5-tropic HIV-1 strains, but HNP4 binds to both CD4 and gp120 weaker than does HNP1 PubMed
    env Alpha-defensins inhibit the binding of HIV-1 gp120 to CD4 through interaction with the D1 domain of CD4 PubMed
    Envelope transmembrane glycoprotein gp41 env Human alpha-defensin (HNP-1) augments the activity of inhibitory peptides and antibodies targeting the HIV-1 gp41 coiled-coil, C-HR, and MPER domains PubMed
    env Human alpha-defensin (HNP-1) slows down the HIV-1 Env (gp120/gp41) binding to CXCR4 but not CD4 or CCR5 on the kinetics of HIV-1 entry PubMed
    env HNP-1 inhibits trimerization of the HIV-1 gp41 N-terminal coiled coil domain and binds to both the C-terminal domain and the 6-helix bundle structure PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from BioSystems

    • Alpha-defensins, organism-specific biosystem (from REACTOME)
      Alpha-defensins, organism-specific biosystemHumans have 7 alpha defensin genes plus 5 pseudogenes (see HGNC at http://www.genenames.org/genefamilies/DEFA). Alpha-defensins have six cysteines linked 1-6, 2-4, 3-5. The canonical sequence of alph...
    • Antimicrobial peptides, organism-specific biosystem (from REACTOME)
      Antimicrobial peptides, organism-specific biosystemAntimicrobial peptides (AMPs) are small molecular weight proteins with broad spectrum of antimicrobial activity against bacteria, viruses, and fungi (Zasloff M 2002; Radek K & Gallo R 2007). The majo...
    • Cellular roles of Anthrax toxin, organism-specific biosystem (from Pathway Interaction Database)
      Cellular roles of Anthrax toxin, organism-specific biosystem
      Cellular roles of Anthrax toxin
    • Defensins, organism-specific biosystem (from REACTOME)
      Defensins, organism-specific biosystemThe defensins are a family of antimicrobial cationic peptide molecules which in mammals have a characteristic beta-sheet-rich fold and framework of six disulphide-linked cysteines (Selsted & Ouellet...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
      Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC138393

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    T cell chemotaxis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    antibacterial humoral response IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    antibacterial humoral response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    antimicrobial humoral immune response mediated by antimicrobial peptide IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    antimicrobial humoral immune response mediated by antimicrobial peptide IC
    Inferred by Curator
    more info
    PubMed 
    antimicrobial humoral immune response mediated by antimicrobial peptide IDA
    Inferred from Direct Assay
    more info
    PubMed 
    antimicrobial humoral immune response mediated by antimicrobial peptide IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    antimicrobial humoral response TAS
    Traceable Author Statement
    more info
     
    cellular response to lipopolysaccharide IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    chemotaxis TAS
    Traceable Author Statement
    more info
    PubMed 
    defense response to Gram-negative bacterium IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    defense response to Gram-positive bacterium IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    defense response to Gram-positive bacterium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    defense response to fungus IEA
    Inferred from Electronic Annotation
    more info
     
    defense response to protozoan IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    defense response to virus IEA
    Inferred from Electronic Annotation
    more info
     
    disruption by host of symbiont cells IDA
    Inferred from Direct Assay
    more info
    PubMed 
    immune response TAS
    Traceable Author Statement
    more info
    PubMed 
    innate immune response in mucosa IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    innate immune response in mucosa IDA
    Inferred from Direct Assay
    more info
    PubMed 
    intracellular estrogen receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    killing of cells of other organism IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane disruption in other organism IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    neutrophil degranulation TAS
    Traceable Author Statement
    more info
     
    pore formation in membrane of other organism during symbiotic interaction IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    neutrophil defensin 1
    Names
    defensin, alpha 1, myeloid-related sequence
    defensin, alpha 2
    myeloid-related sequence

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_004084.3NP_004075.1  neutrophil defensin 1 preproprotein

      See identical proteins and their annotated locations for NP_004075.1

      Status: REVIEWED

      Source sequence(s)
      AL036554, AW291977, M26602
      Consensus CDS
      CCDS34797.1
      UniProtKB/Swiss-Prot
      P59665
      Related
      ENSP00000372139.2, ENST00000382692.2
      Conserved Domains (2) summary
      pfam00323
      Location:6694
      Defensin_1; Mammalian defensin
      pfam00879
      Location:152
      Defensin_propep; Defensin propeptide

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

      Range
      6977649..6980120 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011534740.3XP_011533042.1  neutrophil defensin 1 isoform X1

      See identical proteins and their annotated locations for XP_011533042.1

      Conserved Domains (2) summary
      pfam00323
      Location:73101
      Defensin_1; Mammalian defensin
      pfam00879
      Location:859
      Defensin_propep; Defensin propeptide

    Reference GRCh38.p13 PATCHES

    Genomic

    1. NW_018654717.1 Reference GRCh38.p13 PATCHES

      Range
      372761..375204 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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