DEFA1 - defensin alpha 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene 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 References 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 References 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 References 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_propep: Defensin propeptide (1 - 52)

Defensin_1

Defensin_1: Mammalian defensin (66 - 94)

  • 0
  • 94 a.a.
Protein Preferred Names Protein Names

neutrophil defensin 1

  • defensin, alpha 1, myeloid-related sequence

DEFA1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
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) ≥ 90%, as determined by reducing SDS-PAGE.

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

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 Set / Unkown