DEFA1B defensin alpha 1B [Homo sapiens (human)] - Gene

Summary

Official Symbol: DEFA1Bprovided by HGNC
Official Full Name: defensin alpha 1Bprovided by HGNC
Primary source: HGNC:HGNC:33596
See related: Ensembl:ENSG00000240247 AllianceGenome:HGNC:33596
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; HP-1; 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. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2014]
Expression: Restricted expression toward bone marrow (RPKM 28740.8) See more
Orthologs: all
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Genomic context

Location:: 8p23.1

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (6996766..6999198, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (6751419..6753858, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (6854288..6856720, complement)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

our findings suggest that DEFA1B and NLRP3 gene expression levels can be used as valuable biologic markers for estimation of disease activity in NBD and as potential targets for future therapeutic trials for inflammatory disorders.
Title: Enhanced NLRP3 and DEFA1B Expression During the Active Stage of Parenchymal Neuro-Behçet's Disease.
Human Neutrophil Peptide 1 directly binds and neutralizes Exotoxin A of Pseudomonas aeruginosa.
Title: Neutralization of Pseudomonas auruginosa Exotoxin A by human neutrophil peptide 1.
Inflammatory regulation of defensin alpha 1 (human neutrophil peptide 1; HNP-1) in pancreatic ductal adenocarcinoma (PDAC) tissue and cells indicates that HNP-1 may be a link between chronic inflammation and malignant transformation in the pancreas.
Title: Antimicrobial Peptide Human Neutrophil Peptide 1 as a Potential Link Between Chronic Inflammation and Ductal Adenocarcinoma of the Pancreas.
binding of HNP1 to affected bacterial toxins caused their local unfolding, potentiated their thermal melting and precipitation, exposed new regions for proteolysis, and increased susceptibility to collisional quenchers.
Title: Human defensins facilitate local unfolding of thermodynamically unstable regions of bacterial protein toxins.
DEFA1B encodes an antibacterial peptide that is bacteriocidal against S. aureus, E. coli, and P. aeruginosa.
Title: Defensins. Natural peptide antibiotics of human neutrophils.
Data show that H. pylori induces alpha-defensin release from granulocytes, which may be important in local host response to H. pylori infection in gastroduodenal diseases.
Title: Helicobacter pylori induces the release of alpha-defensin by human granulocytes.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:486943

RH71432 (e-PCR)
- UniSTS:66423

PMC152639P3 (e-PCR)
- UniSTS:271236

STS-N54165 (e-PCR)
- UniSTS:51153

NoName (e-PCR)
- UniSTS:481504

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables pore-forming activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

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

Component	Evidence Code	Pubs
located_in Golgi lumen	TAS Traceable Author Statement more info
located_in azurophil granule lumen	TAS Traceable Author Statement more info
colocalizes_with collagen-containing extracellular matrix	HDA more info	PubMed
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	HDA more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: neutrophil defensin 1

NCBI Reference Sequences (RefSeq)

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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)

NM_001042500.2 → NP_001035965.1 neutrophil defensin 1 isoform 2 preproprotein

See identical proteins and their annotated locations for NP_001035965.1

Status: REVIEWED

Source sequence(s)

AF238378

Consensus CDS

CCDS43691.1

UniProtKB/Swiss-Prot

P11479, P59665, Q14125, Q6EZF6

Related

ENSP00000372136.3, ENST00000382689.8

Conserved Domains (2) summary

pfam00323
Location:66 → 94

Defensin_1; Mammalian defensin

pfam00879
Location:1 → 52

Defensin_propep; Defensin propeptide
NM_001302265.2 → NP_001289194.1 neutrophil defensin 1 isoform 1 preproprotein

See identical proteins and their annotated locations for NP_001289194.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

HY073456, HY252327

Conserved Domains (2) summary

pfam00323
Location:73 → 101

Defensin_1; Mammalian defensin

pfam00879
Location:8 → 59

Defensin_propep; Defensin propeptide