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

Summary

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Official Symbol: DEFB1provided by HGNC
Official Full Name: defensin, beta 1provided by HGNC
Primary source: 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]

Genomic context

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Location :: 8p23.1

Sequence :: Chromosome: 8; NC_000008.10 (6728097..6735529, complement)

See DEFB1 in Epigenomics, MapViewer

Chromosome 8 - NC_000008.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

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Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

HBD1 is expressed in tonsils and its levels are reduced in patients with allergic rhinitis.
Title: Reduced tonsillar expression of human β-defensin 1, 2 and 3 in allergic rhinitis.
Binding of peptides corresponding to the carboxy-terminal region of human-beta-defensins-1-3 with model membranes investigated by isothermal titration calorimetry.
Title: Binding of peptides corresponding to the carboxy-terminal region of human-β-defensins-1-3 with model membranes investigated by isothermal titration calorimetry.
DEFB1 promoter polymorphisms may promote persistent S. aureus colonization by reducing hbd-1 and hbd-3 expression in keratinocytes of human skin.
Title: Impaired β-defensin expression in human skin links DEFB1 promoter polymorphisms with persistent Staphylococcus aureus nasal carriage.
In the meta-analysis, DEFA6 rs13275170 and DEFB1 rs2738169 had both a 1.3-fold increased odds ratio for gastric cancer.
Title: Innate immunity and non-Hodgkin's lymphoma (NHL) related genes in a nested case-control study for gastric cancer risk.
DEFB1 polymorphisms promote persistent S. aureus colonization by altering beta-defensin expression in keratinocytes of human skin.
Title: Impaired β-defensin expression in human skin links DEFB1 promoter polymorphisms with persistent Staphylococcus aureus nasal carriage.
Several diseases have been associated with genetic polymorphisms in the hBD-1 encoding gene. Herein we discuss why the biological role of hBD-1 has been overlooked and how hBD-1 can be activated by chemical reduction.
Title: [Human beta-defensin 1: from defence to offence].
No statistically significant differences were observed in the distribution of the genotypic or allelic frequencies of the DEFB1 c.-52G>A and c.-44C>G SNPs among Crohn disease, ulcerative colitis and healthy control subjects
Title: DEFB1 gene 5' untranslated region (UTR) polymorphisms in inflammatory bowel diseases.
There were no significant differences in the genotype frequencies of the three single-nucleotide polymorphisms of the DEFB1 gene between the patients with stroke and healthy blood donors
Title: Genetic polymorphisms of human β-defensins in patients with ischemic stroke.
Functional single-nucleotide polymorphisms in the DEFB1 gene are associated with systemic lupus erythematosus in Southern Brazilians.
Title: Functional single-nucleotide polymorphisms in the DEFB1 gene are associated with systemic lupus erythematosus in Southern Brazilians.
Using a large, unique cohort of pediatric CA-SAB, this study found no significant association between DEFB1 genetic variation or DEFB4/DEFB103 gene copy number and susceptibility for Staphylococcus aureus bacteremia
Title: Genetic variability in beta-defensins is not associated with susceptibility to Staphylococcus aureus bacteremia.

Submit: New GeneRIF Correction See all (88)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
P60022	P51684	CCR6	HPRD	PubMed
P60022	P54257	HAP1	HPRD	PubMed
P60022	Q5UIP0	RIF1	HPRD	PubMed
P60022	P08670	VIM	HPRD	PubMed
BioGRID:108036	BioGRID:111809	MAP4K2	BioGRID	PubMed	Two-hybrid

Pathways from BioSystems

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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

General gene information

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Homology

OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

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
chemotaxis	TAS Traceable Author Statement more info	PubMed
defense response to bacterium	IEA Inferred from Electronic Annotation more info
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
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 stimulus	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
Golgi lumen	TAS Traceable Author Statement more info
extracellular region	TAS Traceable Author Statement more info

General protein information

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Preferred Names: beta-defensin 1

Names: beta-defensin 1; BD-1; beta-defensin-1

NCBI Reference Sequences (RefSeq)

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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)

NM_005218.3 → NP_005209.1 beta-defensin 1 preproprotein

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:34 – 68
Blast Score: 93

Defensin_beta; Beta defensin

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000008.10 Reference GRCh37.p10 Primary Assembly

Range

6728097..6735529, complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000140.1 Alternate HuRef

Range

6508241..6515671, complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018919.1 Alternate CHM1_1.0

Range

6934079..6941504, complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AB102694.1	BAC56888.1
genomic	ABBA01007051.1 (1919..9349)	None
genomic	AF205406.5 (63502..70829)	None
genomic	AF233439.7 (110805..118237)	None
genomic	AMYH01018300.1 (260727..268152)	None
genomic	CH471153.1	EAW80482.1
genomic	U50930.1	AAC51728.1
genomic	U50931.1	AAC51728.1
mRNA	BC033298.1	AAH33298.1
mRNA	BC047677.1	AAH47677.1
mRNA	BM673094.1	None
mRNA	U73945.1	AAB49758.1
mRNA	X92744.1	CAA63405.1
mRNA	Z50788.1	CAA90650.1
other-genetic	HQ448540.1	ADQ33019.1