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BPIFB3 BPI fold containing family B member 3 [ Homo sapiens (human) ]

Gene ID: 359710, updated on 5-Mar-2024

Summary

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Official Symbol
BPIFB3provided by HGNC
Official Full Name
BPI fold containing family B member 3provided by HGNC
Primary source
HGNC:HGNC:16178
See related
Ensembl:ENSG00000186190 MIM:615717; AllianceGenome:HGNC:16178
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RYA3; LPLUNC3; C20orf185
Summary
Predicted to enable lipid binding activity. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

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Location:
20q11.21
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (33053903..33073847)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (34780603..34800582)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (31641709..31661653)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:31629439-31629940 Neighboring gene BPI fold containing family B member 6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31640995-31641529 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31641530-31642063 Neighboring gene pseudouridine 5'-phosphatase pseudogene 3 Neighboring gene BPI fold containing family B member 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17726 Neighboring gene uncharacterized LOC105372714

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. BPIFB3 regulates autophagy and coxsackievirus B replication through a noncanonical pathway independent of the core initiation machinery. Delorme-Axford E, et al. mBio, 2014 Dec 9. PMID 25491355, Free PMC Article
  2. Expansion of the BPI family by duplication on human chromosome 20: characterization of the RY gene cluster in 20q11.21 encoding olfactory transporters/antimicrobial-like peptides. Andrault JB, et al. Genomics, 2003 Aug. PMID 12837268
  3. PLUNC: a novel family of candidate host defence proteins expressed in the upper airways and nasopharynx. Bingle CD, et al. Hum Mol Genet, 2002 Apr 15. PMID 11971875
  4. Phylogenetic and evolutionary analysis of the PLUNC gene family. Bingle CD, et al. Protein Sci, 2004 Feb. PMID 14739326, Free PMC Article
  5. Systematic nomenclature for the PLUNC/PSP/BSP30/SMGB proteins as a subfamily of the BPI fold-containing superfamily. Bingle CD, et al. Biochem Soc Trans, 2011 Aug. PMID 21787333, Free PMC Article

See all (12) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Overexpression of BPIFB3 inhibits coxsackievirus B replication, dramatically alters the morphology of LC3B-positive vesicles, and suppresses autophagy in response to rapamycin.
    Title: BPIFB3 regulates autophagy and coxsackievirus B replication through a noncanonical pathway independent of the core initiation machinery.
  2. Observational study of gene-disease association. (HuGE Navigator)
    Title: New genetic associations detected in a host response study to hepatitis B vaccine.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables lipid binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in innate immune response NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
BPI fold-containing family B member 3
Names
ligand-binding protein RYA3
long palate, lung and nasal epithelium carcinoma-associated protein 3

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_001376932.3 → NP_001363861.2  BPI fold-containing family B member 3 precursor

    Status: VALIDATED

    Source sequence(s)
    AL121756
    Consensus CDS
    CCDS13212.2
    UniProtKB/Swiss-Prot
    P59826, Q5TDX7
    UniProtKB/TrEMBL
    Q14DE0
    Related
    ENSP00000364643.4, ENST00000375494.4
    Conserved Domains (1) summary
    cl00188
    Location:272 → 470
    BPI; BPI/LBP/CETP domain; Bactericidal permeability-increasing protein (BPI) / Lipopolysaccharide-binding protein (LBP) / Cholesteryl ester transfer protein (CETP) domain; binds to and neutralizes lipopolysaccharides from the outer membrane of Gram-negative ...

  2. NM_182658.5 → NP_872599.2  BPI fold-containing family B member 3 precursor

    Status: VALIDATED

    Source sequence(s)
    AL121756
    Consensus CDS
    CCDS13212.2
    UniProtKB/Swiss-Prot
    P59826, Q5TDX7
    UniProtKB/TrEMBL
    Q14DE0
    Conserved Domains (1) summary
    cl00188
    Location:272 → 470
    BPI; BPI/LBP/CETP domain; Bactericidal permeability-increasing protein (BPI) / Lipopolysaccharide-binding protein (LBP) / Cholesteryl ester transfer protein (CETP) domain; binds to and neutralizes lipopolysaccharides from the outer membrane of Gram-negative ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    33053903..33073847
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    34780603..34800582
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P59826.3 GenPept UniProtKB/Swiss-Prot:P59826

Gene LinkOut

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