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    DEFB1 defensin beta 1 [ Homo sapiens (human) ]

    Gene ID: 1672, updated on 11-Apr-2018
    Official Symbol
    DEFB1provided by HGNC
    Official Full Name
    defensin beta 1provided by HGNC
    Primary source
    HGNC:HGNC:2766
    See related
    Ensembl:ENSG00000164825 MIM:602056; Vega:OTTHUMG00000090367
    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
    BD1; HBD1; DEFB-1; DEFB101
    Summary
    Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Members of the defensin family are highly similar in protein sequence. This gene encodes defensin, beta 1, an antimicrobial peptide implicated in the resistance of epithelial surfaces to microbial colonization. This gene maps in close proximity to defensin family member, defensin, alpha 1 and has been implicated in the pathogenesis of cystic fibrosis. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in kidney (RPKM 464.8), salivary gland (RPKM 76.4) and 2 other tissues See more
    Orthologs
    Location:
    8p23.1
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 8 NC_000008.11 (6870575..6878007, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (6728097..6735529, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986909 Neighboring gene XK related 5 Neighboring gene uncharacterized LOC100652791 Neighboring gene ribosomal protein L23a pseudogene 96 Neighboring gene defensin alpha 6

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia.
    NHGRI GWA Catalog
    • 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...
    • Beta defensins, organism-specific biosystem (from REACTOME)
      Beta defensins, organism-specific biosystemHumans have 38 beta-defensin genes plus 9-10 pseudogenes (details available on the HGNC website at http://www.genenames.org/genefamilies/DEFB). Many beta-defensins are encoded by recently duplicated ...
    • 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
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Clone Names

    • MGC51822

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    CCR6 chemokine receptor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    identical protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    G-protein coupled receptor signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    antibacterial humoral response IDA
    Inferred from Direct Assay
    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
     
    cAMP-mediated signaling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    calcium-mediated signaling using intracellular calcium source IDA
    Inferred from Direct Assay
    more info
    PubMed 
    chemotaxis TAS
    Traceable Author Statement
    more info
    PubMed 
    defense response to Gram-negative bacterium IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    defense response to Gram-positive bacterium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    defense response to Gram-positive bacterium IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    defense response to bacterium IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    immune response TAS
    Traceable Author Statement
    more info
    PubMed 
    innate immune response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    innate immune response NAS
    Non-traceable Author Statement
    more info
    PubMed 
    innate immune response in mucosa IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of flagellated sperm motility involved in capacitation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to bacterium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to bacterium ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    Golgi lumen TAS
    Traceable Author Statement
    more info
     
    extracellular exosome HDA PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extrinsic component of membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    microvesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    sperm midpiece IDA
    Inferred from Direct Assay
    more info
    PubMed 

    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_005218.3NP_005209.1  beta-defensin 1 preproprotein

      See identical proteins and their annotated locations for NP_005209.1

      Status: REVIEWED

      Source sequence(s)
      BC047677, BM673094
      Consensus CDS
      CCDS5959.1
      UniProtKB/Swiss-Prot
      P60022
      Related
      ENSP00000297439.3, OTTHUMP00000159500, ENST00000297439.3, OTTHUMT00000251292
      Conserved Domains (1) summary
      pfam00711
      Location:3468
      Defensin_beta; Beta defensin

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p12 Primary Assembly

      Range
      6870575..6878007 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p12 PATCHES

    Genomic

    1. NW_018654717.1 Reference GRCh38.p12 PATCHES

      Range
      265822..273239 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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