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FLASH GENE

Symbol

DEFB1

contributors: mct - updated : 30-05-2011

HGNC name	defensin, beta 1
HGNC id	2766

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	8p23.1      Physical location : 6.728.096 - 6.735.529
Synonym symbol(s)	HBD1, BD1, DEFB101

DNA

TYPE	functioning gene
SPECIAL FEATURE	component of a cluster
text	within 100-150kb of DEFA cluster
STRUCTURE	7.43 kb     2 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

Map	see DEFB8@
Text	transcription in cen to pter direction

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_005218 2 - 484 - 68 - 1997 9268634

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine thyroid       highly Skin/Tegument skin       moderately Urinary kidney tubule convoluted tubule distal tubule highly Visual eye anterior segment cornea     Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier lining corneal epithelium     Homo sapiens Muscular striatum skeletal

cell lineage
cell lines
fluid/secretion	plasma

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

six disulfide-linked cysteines

HOMOLOGY

Homologene

FAMILY

CATEGORY

immunity/defense

SUBCELLULAR LOCALIZATION

extracellular

basic FUNCTION	cysteine-arginine rich antimicrobial peptide, implicated in the resistance to microbial colonization
	involved in oxygen independent phagocytosis of Gram+, Gram- bacteria, many fungi, some viruses
	component of the immune system which links the innate and adaptive immune responses
	DEFA1 and DEFB1 promoted the up-regulation of CD91 on the dendritic cells surface
	with DEFA1, inactivated both X4 and R5 HIV-1
	cationic peptides produced by epithelial cells that have been proposed to be an important component of immune function at mucosal surfaces
	one of the most prominent peptides of its class but despite ubiquitous expression by all epithelia, comparison with other defensins suggested only minor antibiotic killing activity

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	interacting with PAX2 (PAX2 represses DEFB1 expression through binding of the PAX2 homeodomain to the DEFB1 promoter in prostate cancer)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to Crohn disease

Variant & Polymorphism other	genetic variations in the DEFB1 gene encoding constitutive beta-defensin 1 may be associated with the risk for Crohn disease

Candidate gene	candidate modifier gene of the CF pulmonary phenotype
Marker
Therapy target

ANIMAL & CELL MODELS