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DEFA1 defensin alpha 1 [ Homo sapiens (human) ]

Gene ID: 1667, updated on 9-Dec-2018

Summary

Official Symbol
DEFA1provided by HGNC
Official Full Name
defensin alpha 1provided by HGNC
Primary source
HGNC:HGNC:2761
See related
Ensembl:ENSG00000206047 MIM:125220
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HP1; MRS; DEF1; HP-1; DEFA2; HNP-1
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]
Expression
Restricted expression toward bone marrow (RPKM 27404.8) See more
Orthologs

Genomic context

See DEFA1 in Genome Data Viewer
Location:
8p23.1
Exon count:
4
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 8 NC_000008.11 (6977649..6980120, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (6835171..6837614, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene defensin alpha 9, pseudogene Neighboring gene defensin alpha 10, pseudogene Neighboring gene defensin, theta 1 pseudogene Neighboring gene defensin alpha 1B

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study of chronic periodontitis in a general German population.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env Human alpha-defensin (HNP-1) slows down the HIV-1 Env (gp120/gp41) binding to CXCR4 but not CD4 or CCR5 on the kinetics of HIV-1 entry PubMed
env Dimerization of HNP-1 is important for HNP-1 to bind HIV-1 gp120. W26A mutation abolishes the interaction between HNP-1 and gp120 PubMed
env Human neutrophil alpha-defensin 4 (HNP4) is more effective than HNP1-3 in protecting human peripheral blood mononuclear cells from infection by both CXCR4- and CCR5-tropic HIV-1 strains, but HNP4 binds to both CD4 and gp120 weaker than does HNP1 PubMed
env Alpha-defensins inhibit the binding of HIV-1 gp120 to CD4 through interaction with the D1 domain of CD4 PubMed
Envelope transmembrane glycoprotein gp41 env Human alpha-defensin (HNP-1) augments the activity of inhibitory peptides and antibodies targeting the HIV-1 gp41 coiled-coil, C-HR, and MPER domains PubMed
env Human alpha-defensin (HNP-1) slows down the HIV-1 Env (gp120/gp41) binding to CXCR4 but not CD4 or CCR5 on the kinetics of HIV-1 entry PubMed
env HNP-1 inhibits trimerization of the HIV-1 gp41 N-terminal coiled coil domain and binds to both the C-terminal domain and the 6-helix bundle structure PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • Alpha-defensins, organism-specific biosystem (from REACTOME)
    Alpha-defensins, organism-specific biosystemHumans have 7 alpha defensin genes plus 5 pseudogenes (see HGNC at http://www.genenames.org/genefamilies/DEFA). Alpha-defensins have six cysteines linked 1-6, 2-4, 3-5. The canonical sequence of alph...
  • Antimicrobial peptides, organism-specific biosystem (from REACTOME)
    Antimicrobial peptides, organism-specific biosystemAntimicrobial peptides (AMPs) are small molecular weight proteins with broad spectrum of antimicrobial activity against bacteria, viruses, and fungi (Zasloff M 2002; Radek K & Gallo R 2007). The majo...
  • Cellular roles of Anthrax toxin, organism-specific biosystem (from Pathway Interaction Database)
    Cellular roles of Anthrax toxin, organism-specific biosystem
    Cellular roles of Anthrax toxin
  • Defensins, organism-specific biosystem (from REACTOME)
    Defensins, organism-specific biosystemThe defensins are a family of antimicrobial cationic peptide molecules which in mammals have a characteristic beta-sheet-rich fold and framework of six disulphide-linked cysteines (Selsted & Ouellet...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
    Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC138393

Gene Ontology Provided by GOA

Process Evidence Code Pubs
T cell chemotaxis IDA
Inferred from Direct Assay
more info
PubMed 
antibacterial humoral response IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
antibacterial humoral response IDA
Inferred from Direct Assay
more info
PubMed 
antimicrobial humoral immune response mediated by antimicrobial peptide IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
antimicrobial humoral immune response mediated by antimicrobial peptide IC
Inferred by Curator
more info
PubMed 
antimicrobial humoral immune response mediated by antimicrobial peptide IDA
Inferred from Direct Assay
more info
PubMed 
antimicrobial humoral immune response mediated by antimicrobial peptide IMP
Inferred from Mutant Phenotype
more info
PubMed 
antimicrobial humoral response TAS
Traceable Author Statement
more info
 
cellular response to lipopolysaccharide IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chemotaxis TAS
Traceable Author Statement
more info
PubMed 
defense response to Gram-negative bacterium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
defense response to Gram-positive bacterium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
defense response to Gram-positive bacterium IDA
Inferred from Direct Assay
more info
PubMed 
defense response to fungus IEA
Inferred from Electronic Annotation
more info
 
defense response to protozoan IMP
Inferred from Mutant Phenotype
more info
PubMed 
defense response to virus IEA
Inferred from Electronic Annotation
more info
 
disruption by host of symbiont cells IDA
Inferred from Direct Assay
more info
PubMed 
immune response TAS
Traceable Author Statement
more info
PubMed 
innate immune response in mucosa IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
innate immune response in mucosa IDA
Inferred from Direct Assay
more info
PubMed 
intracellular estrogen receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
killing of cells of other organism IDA
Inferred from Direct Assay
more info
PubMed 
membrane disruption in other organism IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
pore formation in membrane of other organism during symbiotic interaction IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
neutrophil defensin 1
Names
defensin, alpha 1, myeloid-related sequence
defensin, alpha 2
myeloid-related sequence

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_004084.3NP_004075.1  neutrophil defensin 1 preproprotein

    See identical proteins and their annotated locations for NP_004075.1

    Status: REVIEWED

    Source sequence(s)
    AL036554, AW291977, M26602
    Consensus CDS
    CCDS34797.1
    UniProtKB/Swiss-Prot
    P59665
    Related
    ENSP00000372139.2, ENST00000382692.2
    Conserved Domains (2) summary
    pfam00323
    Location:6694
    Defensin_1; Mammalian defensin
    pfam00879
    Location:152
    Defensin_propep; Defensin propeptide

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p12 Primary Assembly

    Range
    6977649..6980120 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011534740.3XP_011533042.1  neutrophil defensin 1 isoform X1

    See identical proteins and their annotated locations for XP_011533042.1

    Conserved Domains (2) summary
    pfam00323
    Location:73101
    Defensin_1; Mammalian defensin
    pfam00879
    Location:859
    Defensin_propep; Defensin propeptide

Reference GRCh38.p12 PATCHES

Genomic

  1. NW_018654717.1 Reference GRCh38.p12 PATCHES

    Range
    372761..375204 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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