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DEFA6 defensin alpha 6 [ Homo sapiens (human) ]

Gene ID: 1671, updated on 13-Mar-2020

Summary

Official Symbol
DEFA6provided by HGNC
Official Full Name
defensin alpha 6provided by HGNC
Primary source
HGNC:HGNC:2765
See related
Ensembl:ENSG00000164822 MIM:600471
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
DEF6; HD-6
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 alpha defensin genes appear to be clustered on chromosome 8. The protein encoded by this gene, defensin, alpha 6, is highly expressed in the secretory granules of Paneth cells of the small intestine, and likely plays a role in host defense of human bowel. [provided by RefSeq, Oct 2014]
Expression
Restricted expression toward small intestine (RPKM 3311.8) See more
Orthologs

Genomic context

See DEFA6 in Genome Data Viewer
Location:
8p23.1
Exon count:
2
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (6924697..6926076, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (6782216..6783598, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene defensin beta 1 Neighboring gene ribosomal protein L23a pseudogene 96 Neighboring gene defensin alpha 4 Neighboring gene defensin alpha 8, pseudogene

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 Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 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 PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
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 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-positive bacterium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
defense response to fungus IEA
Inferred from Electronic Annotation
more info
 
innate immune response in mucosa IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
killing of cells of other organism IEA
Inferred from Electronic Annotation
more info
 
membrane disruption in other organism IBA
Inferred from Biological aspect of Ancestor
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 

General protein information

Preferred Names
defensin-6
Names
defensin, alpha 6, Paneth cell-specific

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_001926.4NP_001917.1  defensin-6 preproprotein

    See identical proteins and their annotated locations for NP_001917.1

    Status: REVIEWED

    Source sequence(s)
    BC069667, BM855691
    Consensus CDS
    CCDS5960.1
    UniProtKB/Swiss-Prot
    Q01524
    Related
    ENSP00000297436.2, ENST00000297436.3
    Conserved Domains (2) summary
    pfam00323
    Location:7299
    Defensin_1; Mammalian defensin
    pfam00879
    Location:158
    Defensin_propep; Defensin propeptide

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    6924697..6926076 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_018654717.1 Reference GRCh38.p13 PATCHES

    Range
    319821..321199 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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