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DEFB131A defensin beta 131A [ Homo sapiens (human) ]

Gene ID: 644414, updated on 10-Dec-2024

Summary

Official Symbol
DEFB131Aprovided by HGNC
Official Full Name
defensin beta 131Aprovided by HGNC
Primary source
HGNC:HGNC:18108
See related
Ensembl:ENSG00000186146 AllianceGenome:HGNC:18108
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
DEFB-31; DEFB131
Summary
Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The antimicrobial protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 4p16. [provided by RefSeq, Nov 2014]
Expression
Biased expression in duodenum (RPKM 4.4), small intestine (RPKM 1.1) and 1 other tissue See more
Orthologs
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Genomic context

See DEFB131A in Genome Data Viewer
Location:
4p16.1
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (9444414..9450666)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (9464954..9471340)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (9446140..9452392)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene RNA, 5S ribosomal pseudogene 153 Neighboring gene defensin beta 130D (pseudogene) Neighboring gene olfactory receptor family 7 subfamily E member 86 pseudogene Neighboring gene olfactory receptor family 7 subfamily E member 84 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?

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of defensin, beta 131 (DEFB131) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

General gene information

Gene Ontology Provided by GOA

Component Evidence Code Pubs
is_active_in extracellular space  
located_in extracellular space PubMed 

General protein information

Preferred Names
beta-defensin 131A
Names
beta-defensin 131
beta-defensin 31
defensin beta 131
defensin, beta 31

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_001040448.3NP_001035538.2  beta-defensin 131A precursor

    See identical proteins and their annotated locations for NP_001035538.2

    Status: REVIEWED

    Source sequence(s)
    AC116655, AF529414
    Consensus CDS
    CCDS43213.1
    UniProtKB/Swiss-Prot
    P59861
    Related
    ENSP00000335538.1, ENST00000334879.2
    Conserved Domains (1) summary
    pfam13841
    Location:2857
    Defensin_beta_2; Beta defensin

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_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    9444414..9450666
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    9464954..9471340
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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