DEFB1 - defensin beta 1 Gene

Also Known as BD1; HBD1; DEFB-1; DEFB101

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1672

About DEFB1

Cytogenetic location: 8p23.1 Genomic coordinates (GRCh38): 8:6,870,592-6,877,936 (from NCBI)

This gene has 1 transcript (splice variant), 1 gene allele and 74 orthologues. Biased expression in kidney (RPKM 464.8), salivary gland (RPKM 76.4) and 2 other tissues.

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]

DEFB1 Products (1)

mRNA	Protein	Name
NM_005218.4	NP_005209.1	beta-defensin 1 preproprotein

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables CCR6 chemokine receptor binding	IDA IDA: Inferred from direct assay	25122636	GOA
enables identical protein binding	IDA IDA: Inferred from direct assay	23938203	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25122636	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in antibacterial humoral response	IDA IDA: Inferred from direct assay	12860195	GOA
involved in antimicrobial humoral immune response mediated by antimicrobial peptide	IDA IDA: Inferred from direct assay	12860195	GOA
involved in antimicrobial humoral immune response mediated by antimicrobial peptide	IMP IMP: Inferred from mutant phenotype	25122636	GOA
involved in calcium-mediated signaling	IDA IDA: Inferred from direct assay	25122636	GOA
involved in defense response to Gram-negative bacterium	IMP IMP: Inferred from mutant phenotype	25122636	GOA
involved in defense response to Gram-positive bacterium	IDA IDA: Inferred from direct assay	12860195	GOA
involved in defense response to Gram-positive bacterium	IMP IMP: Inferred from mutant phenotype	25122636	GOA
acts upstream of or within defense response to bacterium	IMP IMP: Inferred from mutant phenotype	21115716	GOA
involved in innate immune response in mucosa	IDA IDA: Inferred from direct assay	12860195	GOA
involved in positive regulation of flagellated sperm motility involved in capacitation	IMP IMP: Inferred from mutant phenotype	25122636	GOA
involved in response to bacterium	IDA IDA: Inferred from direct assay	12054642	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in extracellular space	IDA IDA: Inferred from direct assay	7628632	GOA
located in membrane	IDA IDA: Inferred from direct assay	23938203	GOA
located in microvesicle	IDA IDA: Inferred from direct assay	23938203	GOA
located in sperm midpiece	IDA IDA: Inferred from direct assay	25122636	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DEFB1 Protein Structure

Defensin_beta

0
68 a.a.

Protein Preferred Names	Protein Names
beta-defensin 1	BD-1

DEFB1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	DEFB1	P60022	ASPH	Homo sapiens	Q12797-6	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant DEFB1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P7133	BD-1 Protein, Human	P60022 (G22-K68)	≥ 95%, as determined by reducing SDS-PAGE.

DEFB1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81910	beta Defensin 1 Antibody (YA1655)	WB	Human

Related Diseases

Diseases	Alias
Tonsillitis	Chronic Tonsillitis Throat Infection - Tonsillitis
Endophthalmitis
Acne	Acne Vulgaris Acne Varioliformis Frontalis Acne
Cystic Fibrosis	Mucoviscidosis CF Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis Cystic Fibrosis Lung Disease, Modifier Of Cystic Fibrosis Of Pancreas Fibrocystic Disease Of Pancreas Cf - [Cystic Fibrosis] Cystic Fibrosis Nos Fibrocystic Disease Fibrocystic Disease Of The Pancreas Mucoviscidosis Of Pancreas Nonproliferative Fibrocystic Disease Pancreatic Cystic Fibrosis
Gastritis	Acute Gastric Mucosal Erosion Erosive Gastritis Erosive Gastropathy Gastritis Erosive Idiopathic Erosive/Hemorrhagic Gastritis Inflammation Of Gastric Mucosa Gastroduodenitis Gastritis Nos Noninfectious Gastroenteritis Nonbacterial Gastroenteritis Of Infant Acute Gastric Infection Acute Simple Gastritis Chronic Antral Gastritis Chronic Fundal Gastritis Chronic Simple Gastritis Acute Gastroduodenitis Acute Antral Gastritis Acute Erosive Gastritis Bile Reflux Gastritis Gastritis Due To Biliary Reflux
Bacterial Infectious Disease	Bacterial Infections Bacterial Infection Nos Disease Caused By Bacteria Bacterial Disease Or Disorder
Dental Caries	Dental Caries Extending Into Pulp Dental Caries Of Smooth Surface Dental Caries Pit And Fissure Smooth Surface Dental Caries Dental Decay Carious Teeth Dental Cavity Saprodontia Teeth Decayed Tooth Caries Tooth Decay
Aggressive Periodontitis	Juvenile Periodontitis Periodontitis, Juvenile Prepubertal Periodontitis
Periodontitis	Chronic Pericementitis Chronic Periodontitis
Candidiasis	Systemic Candidiasis Invasive Candidiasis Disseminated Candidiasis Systemic Candida Infections Candidiasis, Invasive
Cyclothymic Disorder	Cyclothymia Cycloid Personality Cyclothymic Personality Affective Personality Disorder Cyclothymic Personality Disorder Cycloid Personality Disorder
Cholesteatoma Of Middle Ear	Cholesteatoma Epidermosis Of Ear Epidermosis Of Middle Ear Middle Ear Cholesteatoma Cholesteatoma Of Middle Ear And Mastoid Cholesteatoma Of Middle Ear And/Or Mastoid Cholesteatoma Of The Middle Ear Congenital Cholesteatoma Primary Acquired Cholesteatoma Secondary Acquired Cholesteatoma Cholesteatoma Middle Ear Cholesteatoma, Middle Ear Cholesterolosis Of Middle Ear Cholesterosis Of Ear Cholesterosis Of Middle Ear Cholesteatoma Nos Epidermoid Cholesteatoma Middle Ear Granuloma
Dacryocystitis	Nasolacrimal Sac Infection
Acute Inflammation Of Lacrimal Passage
Corneal Abscess
Nut Midline Carcinoma	Nuclear Protein In Testis Midline Carcinoma Nmc
Bipolar I Disorder	Manic Depression Nos Manic-Depressive Illness Bipolar Disorder Nos
Renal Cell Carcinoma, Nonpapillary	Renal Cell Carcinoma RCC Nonpapillary Renal Cell Carcinoma Clear Cell Renal Cell Carcinoma Hypernephroma Adenocarcinoma Of Kidney Renal Carcinoma, Chromophobe, Somatic Clear Cell Carcinoma Of Kidney Clear-Cell Metastatic Renal Cell Carcinoma Clear Cell Renal Carcinoma Renal Cell Carcinoma, Somatic Conventional Renal Cell Carcinoma Conventional Renal Cell Carcinoma Renal Clear Cell Carcinoma Ccrcc Hereditary Clear Cell Renal Cell Carcinoma Carcinoma, Renal Cell Renal Cell Carcinoma, Clear Cell, Somatic Renal Cell Carcinoma, Clear Cell Clear Cell Kidney Carcinoma Clear Cell Rcc Cystic-Multilocular Variant Clear Cell Renal Cell Adenocarcinoma Hereditary Clear Cell Renal Cell Adenocarcinoma Common Renal Cell Carcinoma Crcc Renal Cell Carcinoma Non-Papillary Carcinoma Renal Cell Renal Cell Cancer Carcinoma, Renal Cell, Nonpapillary
Inflammatory Bowel Disease	Inflammatory Bowel Diseases Bowel Disease, Inflammatory
Simpson-Golabi-Behmel Syndrome, Type 1	Simpson-Golabi-Behmel Syndrome Type 1 Simpson-Golabi-Behmel Syndrome SGBS1 Golabi-Rosen Syndrome Simpson Dysmorphia Syndrome Sgbs Bulldog Syndrome Dgsx Sdys Dysplasia Gigantism Syndrome, X-Linked X-Linked Dysplasia Gigantism Syndrome Dgsx Golabi-Rosen Syndrome Sara Angers Syndrome Sgb Syndrome Mental Retardation-Overgrowth Syndrome Simpson Dysplasia Syndrome Simpson Syndrome Simpson-Golabi-Behmel Syndrome 1 Dysplasia Gigantism Syndrome X-Linked
Chromosome 17q23.1-Q23.2 Deletion Syndrome	17q23.1q23.2 Microdeletion Syndrome 17q23.1-Q23.2 Microdeletion Syndrome Del(17)(Q23.1q23.2) Monosomy 17q23.1q23.2 Monosomy 17q23.1-Q23.2
Shigellosis	Dysentery, Bacillary Bacillary Dysentery Shigella Boydii Infectious Disease Shigella Flexneri Infectious Disease Shigella Gastroenteritis Shigella Sonnei Infectious Disease Shigella Infections
Preterm Premature Rupture Of The Membranes	Preterm Premature Rupture Of Membranes PPROM Preterm Premature Rupture Of The Membranes, Susceptibility To Pprom - [Preterm Premature Rupture Of Membranes] Preterm Rupture Of Membranes
Asthma	Chronic Obstructive Asthma Asthma, Diminished Response To Antileukotriene Treatment In Bronchial Hyperreactivity Asthma, Susceptibility To Asthma, Bronchial Asthma, Protection Against Asthma, Nocturnal, Susceptibility To Nocturnal Asthma Asthma-Related Traits Asthma-Related Traits, Susceptibility To Asthma, Nocturnal Chronic Obstructive Asthma With Acute Exacerbation Chronic Obstructive Asthma With Status Asthmaticus Exercise Induced Asthma Exercise-Induced Asthma Bronchial Asthma Asthma, Exercise-Induced Idiosyncratic Asthma Unspecified Asthma With Acute Exacerbation Asthma, Unspecified, With Stated Status Asthmaticus Status Asthmaticus Nos Acute Severe Asthma Acute Severe Bronchial Asthma Status Asthma Status Post Asthmaticus

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-W074890	Palmitoylglycine	Modulator	99.84%	Unkown
HY-RS03678	DEFB1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18060	Defb1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24535	Defb1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	DEFB1	VGNC	VGNC:39876
Rattus norvegicus	DEFB1	RGD	RGD:619943
Mus musculus	DEFB1	MGD	MGI:1096878
Others	DEFB1	NCBI