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

    Gene ID: 728358, updated on 10-Dec-2024

    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
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    Genomic context

    See DEFA1B in Genome Data Viewer
    Location:
    8p23.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (6996766..6999198, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (6751419..6753858, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (6854288..6856720, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901873 Neighboring gene defensin alpha 1 Neighboring gene defensin theta 1, pseudogene Neighboring gene uncharacterized LOC124901874 Neighboring gene defensin theta 1, pseudogene 2 Neighboring gene uncharacterized LOC124901875 Neighboring gene defensin alpha 3

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in T cell chemotaxis PubMed 
    involved_in antibacterial humoral response  
    involved_in antibacterial humoral response PubMed 
    involved_in antimicrobial humoral immune response mediated by antimicrobial peptide  
    involved_in antimicrobial humoral immune response mediated by antimicrobial peptide PubMed 
    involved_in antimicrobial humoral immune response mediated by antimicrobial peptide PubMed 
    involved_in antimicrobial humoral immune response mediated by antimicrobial peptide PubMed 
    involved_in cellular response to lipopolysaccharide  
    involved_in chemotaxis PubMed 
    involved_in defense response to Gram-negative bacterium  
    involved_in defense response to Gram-positive bacterium  
    involved_in defense response to Gram-positive bacterium PubMed 
    involved_in defense response to fungus  
    involved_in defense response to protozoan PubMed 
    involved_in defense response to virus  
    involved_in disruption of plasma membrane integrity in another organism  
    involved_in estrogen receptor signaling pathway PubMed 
    involved_in immune response PubMed 
    involved_in innate immune response in mucosa  
    involved_in innate immune response in mucosa PubMed 
    involved_in killing by host of symbiont cells PubMed 
    involved_in killing of cells of another organism PubMed 

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001042500.2 → 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
    2. 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

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

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

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_018654717.1 Reference GRCh38.p14 PATCHES

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      6751419..6753858 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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