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DEFA1 - defensin alpha 1 Gene

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

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 1667

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	参考文献	由来
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	参考文献	由来
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	参考文献	由来
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	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
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

製品番号	製品名	アクセッション番号	純度
HY-P72171	DEFA1 Protein, Human (GST)	P59665 (M1-C94)	≥ 90%, as determined by reducing SDS-PAGE.

関連疾患

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

Pre-clinical Phase

Bioactive Molecules (1)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS03673	DEFA1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown