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DEFB1 defensin beta 1 [ Homo sapiens (human) ]

Gene ID: 1672, updated on 6-Jan-2019

Summary

Official Symbol
DEFB1provided by HGNC
Official Full Name
defensin beta 1provided by HGNC
Primary source
HGNC:HGNC:2766
See related
Ensembl:ENSG00000164825 MIM:602056
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

Genomic context

See DEFB1 in Genome Data Viewer
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

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
Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia.
NHGRI GWA Catalog

Pathways from BioSystems

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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 

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_005218.4NP_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, ENST00000297439.3
    Conserved Domains (1) summary
    pfam00711
    Location:3468
    Defensin_beta; Beta defensin

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.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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