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DEFA5 defensin alpha 5 [ Homo sapiens (human) ]

Gene ID: 1670, updated on 23-Dec-2018

Summary

Official Symbol
DEFA5provided by HGNC
Official Full Name
defensin alpha 5provided by HGNC
Primary source
HGNC:HGNC:2764
See related
Ensembl:ENSG00000164816 MIM:600472
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
DEF5; HD-5
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. Several of the alpha defensin genes appear to be clustered on chromosome 8. The protein encoded by this gene, defensin, alpha 5, is highly expressed in the secretory granules of Paneth cells of the ileum. [provided by RefSeq, Oct 2014]
Expression
Restricted expression toward small intestine (RPKM 5886.0) See more
Orthologs

Genomic context

See DEFA5 in Genome Data Viewer
Location:
8p23.1
Exon count:
2
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 8 NC_000008.11 (7055300..7056739, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (6912829..6914259, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene defensin alpha 11, pseudogene Neighboring gene defensin alpha 7, pseudogene Neighboring gene uncharacterized LOC105377799 Neighboring gene translation initiation factor IF-2-like

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?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env Human alpha-defensin-5 binds to both HIV-1 gp120 and CD4 and blocks the interaction of CD4 with gp120, which leads to inhibit HIV-1 replication in human primary CD4+ T lymphocytes PubMed
env Alpha-defensins inhibit the binding of HIV-1 gp120 to CD4 through interaction with the D1 domain of CD4 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...
  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC129728

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
antibacterial humoral response IBA
Inferred from Biological aspect of Ancestor
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 response TAS
Traceable Author Statement
more info
 
cellular response to lipopolysaccharide IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
defense response to Gram-negative bacterium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
defense response to Gram-negative bacterium IMP
Inferred from Mutant Phenotype
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 IMP
Inferred from Mutant Phenotype
more info
PubMed 
defense response to fungus IEA
Inferred from Electronic Annotation
more info
 
innate immune response IMP
Inferred from Mutant Phenotype
more info
PubMed 
innate immune response in mucosa IBA
Inferred from Biological aspect of Ancestor
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 
positive regulation of membrane permeability IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
Golgi lumen TAS
Traceable Author Statement
more info
 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
secretory granule lumen TAS
Traceable Author Statement
more info
 
transport vesicle IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
defensin-5
Names
HD5(20-94)
defensin, alpha 5, Paneth cell-specific
defensin, alpha 5, preproprotein

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_021010.3NP_066290.1  defensin-5 preproprotein

    See identical proteins and their annotated locations for NP_066290.1

    Status: REVIEWED

    Source sequence(s)
    BM854660, BP419449
    Consensus CDS
    CCDS5963.1
    UniProtKB/Swiss-Prot
    Q01523
    Related
    ENSP00000329890.2, ENST00000330590.3
    Conserved Domains (2) summary
    pfam00323
    Location:6593
    Defensin_1; Mammalian defensin
    pfam00879
    Location:150
    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
    7055300..7056739 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p12 PATCHES

Genomic

  1. NW_018654717.1 Reference GRCh38.p12 PATCHES

    Range
    450426..451865 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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