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

Gene ID: 728358, updated on 25-Nov-2021

Summary

Official Symbol
DEFA1Bprovided by HGNC
Official Full Name
defensin alpha 1Bprovided by HGNC
Primary source
HGNC:HGNC:33596
See related
Ensembl:ENSG00000240247
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
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Genomic context

See DEFA1B in Genome Data Viewer
Location:
8p23.1
Exon count:
4
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (6996766..6999198, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (6854288..6856724, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene defensin alpha 1 Neighboring gene defensin theta 1, pseudogene Neighboring gene defensin theta 1, pseudogene 2 Neighboring gene defensin alpha 3

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?

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
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
PubMed 
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
PubMed 
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
PubMed 
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
PubMed 
involved_in defense response to Gram-positive bacterium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 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
PubMed 
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 other organism IDA
Inferred from Direct Assay
more info
PubMed 
involved_in membrane disruption in other organism IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in modification by host of symbiont membrane IDA
Inferred from Direct Assay
more info
PubMed 

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)

  1. NM_001042500.2NP_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
    P59665
    Related
    ENSP00000372136.3, ENST00000382689.8
    Conserved Domains (2) summary
    pfam00323
    Location:6694
    Defensin_1; Mammalian defensin
    pfam00879
    Location:152
    Defensin_propep; Defensin propeptide
  2. NM_001302265.2NP_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:73101
    Defensin_1; Mammalian defensin
    pfam00879
    Location:859
    Defensin_propep; Defensin propeptide

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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
    6996766..6999198 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_018654717.1 Reference GRCh38.p13 PATCHES

    Range
    391879..394318 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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