DEFA1 - defensin alpha 1 Gene

Homo sapiens

Also known as HP1; MRS; DEF1; HP-1; DEFA2; HNP-1

Gene ID: 1667 | Gene type: protein coding

About DEFA1

Cytogenetic location: 8p23.1 Genomic coordinates (GRCh38): 8:6,977,649-6,980,092 (from NCBI)

This gene has 2 transcripts (splice variants), 1 gene allele, 175 orthologues and 5 paralogues. Restricted expression toward bone marrow (RPKM 27404.8).

Summary

Defensins are a family of antimicrobial and cytotoxic Peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. The protein encoded by this gene, defensin, alpha 1, is found in the microbicidal granules of neutrophils and likely plays a role in phagocyte-mediated host defense. Several alpha defensin genes are clustered on chromosome 8. This gene differs from defensin, alpha 3 by only one amino acid. This gene and the gene encoding defensin, alpha 3 are both subject to copy number variation. [provided by RefSeq, Oct 2014]

DEFA1 Products(1)

mRNA	Protein	Name
NM_004084.4	NP_004075.1	neutrophil defensin 1 preproprotein

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables pore-forming activity	IDA IDA: Inferred from direct assay	17635867	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in T cell chemotaxis	IDA IDA: Inferred from direct assay	17088326	GOA
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	17635867	GOA
involved in defense response to Gram-positive bacterium	IDA IDA: Inferred from direct assay	12860195	GOA
involved in defense response to protozoan	IMP IMP: Inferred from mutant phenotype	17635867	GOA
involved in estrogen receptor signaling pathway	IDA IDA: Inferred from direct assay	21861873	GOA
involved in innate immune response in mucosa	IDA IDA: Inferred from direct assay	12860195	GOA
involved in killing by host of symbiont cells	IDA IDA: Inferred from direct assay	17635867	GOA
involved in killing of cells of another organism	IDA IDA: Inferred from direct assay	15616305	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in extracellular space	IDA IDA: Inferred from direct assay	12860195	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

DEFA1 Protein Structure

Defensin_propep

Defensin_1

0
94 a.a.

Protein Preferred Names

Protein Names

neutrophil defensin 1

defensin, alpha 1, myeloid-related sequence

DEFA1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	DEFA1	P59665	UBQLN2	Homo sapiens	Q9UHD9	Y2H Prey Pooling	32296183
Intra	DEFA1	P59665	UBQLN2	Homo sapiens	Q9UHD9	Y2H Array	32296183
Intra	DEFA1	P59665	UBQLN2	Homo sapiens	Q9UHD9	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant DEFA1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P72171	DEFA1 Protein, Human (GST)	P59665 (M1-C94)	≥95%

Related Diseases

Diseases

Alias

Microsporidiosis

Infection By Microspora	Microsporidiasis
Infection By Microsporea	Infection By Microsporida
Intestinal Microsporidiosis	Microsporidia Infection
Infection By Microsporidia

Oral Candidiasis

Thrush	Candidiasis Of Mouth
Oral Moniliasis	Thrush, Oral
Candidiasis, Oral	Oral Thrush
Candidiasis	Equine Thrush

Retinitis Pigmentosa 13

RP13	Retinitis Pigmentosa-13
Retinitis Pigmentosa, Type 13

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

Interstitial Lung Disease 2

Idiopathic Pulmonary Fibrosis	Ipf
Fibrocystic Pulmonary Dysplasia	Pulmonary Fibrosis, Idiopathic
Pulmonary Fibrosis, Idiopathic, Susceptibility To	Cryptogenic Fibrosing Alveolitis
ILD2	Idiopathic Pulmonary Fibrosis, Familial
Fibrosing Alveolitis, Cryptogenic	Uip
Fibrosing Alveolitis	Interstitial Pneumonitis, Usual
Familial Idiopathic Pulmonary Fibrosis	Idiopathic Fibrosing Alveolitis, Chronic Form
Usual Interstitial Pneumonia	Fibrosing Alveolitis Cryptogenic
Hamman-Rich Disease	Idiopathic Pulmonary Fibrosis Familial
Interstitial Pneumonitis Usual	Fibrosis Idiopathic Pulmonary
Fibrosis, Pulmonary, Idiopathic	Hamman-Rich Syndrome
Chronic Idiopathic Pulmonary Fibrosis	Acute Interstitial Pneumonia
Interstitial Pulmonary Fibrosis	Ipf - [Idiopathic Pulmonary Fibrosis]
Idiopathic Lung Fibrosis	Fibrosing Lung Disease
Pulmonary Fibrosis Nos	Fibrosing Pneumonitis

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03673	DEFA1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Name
Email *

	Sorry, but the email address you supplied was invalid.