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DEFB1 defensin, beta 1 [ Homo sapiens (human) ]

Gene ID: 1672, updated on 19-Mar-2015
Official Symbol
DEFB1provided by HGNC
Official Full Name
defensin, beta 1provided by HGNC
Primary source
HGNC:HGNC:2766
See related
Ensembl:ENSG00000164825; HPRD:03634; 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]
Orthologs
See DEFB1 in MapViewer
Location:
8p23.1
Exon count:
2
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 XK, Kell blood group complex subunit-related family, member 5 Neighboring gene uncharacterized LOC100652791 Neighboring gene uncharacterized LOC105377798 Neighboring gene ribosomal protein L23a pseudogene Neighboring gene defensin, alpha 6, Paneth cell-specific

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
  • 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

Process Evidence Code Pubs
G-protein coupled receptor signaling pathway TAS
Traceable Author Statement
more info
PubMed 
acute inflammatory response IEA
Inferred from Electronic Annotation
more info
 
antibacterial humoral response IDA
Inferred from Direct Assay
more info
PubMed 
chemotaxis TAS
Traceable Author Statement
more info
PubMed 
defense response to Gram-positive bacterium IDA
Inferred from Direct Assay
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 TAS
Traceable Author Statement
more info
 
innate immune response in mucosa IDA
Inferred from Direct Assay
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
 
response to testosterone IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi lumen TAS
Traceable Author Statement
more info
 
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
beta-defensin 1
Names
beta-defensin 1
BD-1
beta defensin 1
beta-defensin-1

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 proteins identical to NP_005209.1

    Status: REVIEWED

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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p2 Primary Assembly

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

Alternate CHM1_1.1

Genomic

  1. NC_018919.2 Alternate CHM1_1.1

    Range
    6817351..6824768
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)