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    BPIFA3 BPI fold containing family A member 3 [ Homo sapiens (human) ]

    Gene ID: 128861, updated on 2-Nov-2024

    Summary

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    Official Symbol
    BPIFA3provided by HGNC
    Official Full Name
    BPI fold containing family A member 3provided by HGNC
    Primary source
    HGNC:HGNC:16204
    See related
    Ensembl:ENSG00000131059 AllianceGenome:HGNC:16204
    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
    SPLUNC3; C20orf71
    Summary
    Predicted to enable lipid binding activity. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward testis (RPKM 31.7) See more
    Orthologs
    mouse all
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    Genomic context

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    See BPIFA3 in Genome Data Viewer
    Location:
    20q11.21
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (33217310..33227806)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (34944548..34955045)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (31805116..31815612)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene suppressor of cytokine signaling 2 pseudogene 1 Neighboring gene BPI fold containing family A member 4, pseudogene Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr20:31811562-31812761 Neighboring gene uncharacterized LOC105372593 Neighboring gene BPI fold containing family A member 1 Neighboring gene ribosomal protein L12 pseudogene 3

    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 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. 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
    2. Phylogenetic and evolutionary analysis of the PLUNC gene family. Bingle CD, et al. Protein Sci, 2004 Feb. PMID 14739326, Free PMC Article
    3. 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
    4. The DNA sequence and comparative analysis of human chromosome 20. Deloukas P, et al. Nature, 2001 Dec 20-27. PMID 11780052
    5. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. Xiao T, et al. Proc Natl Acad Sci U S A, 2018 Jul 31. PMID 29987050, Free PMC Article

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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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    Homology

    Clone Names

    • MGC44525

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables lipid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    BPI fold-containing family A member 3
    Names
    short long palate, lung and nasal epithelium carcinoma associated 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_001042439.2 → NP_001035904.1  BPI fold-containing family A member 3 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001035904.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the coding region compared to variant 1. The resulting protein (isoform 2) is shorter but has the same N- and C-termini compared to isoform 1.
      Source sequence(s)
      AI638623, AL121901, BC066354
      Consensus CDS
      CCDS42865.1
      UniProtKB/Swiss-Prot
      Q9BQP9
      Related
      ENSP00000364601.3, ENST00000375452.3
      Conserved Domains (1) summary
      cl00188
      Location:98 → 183
      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_178466.5 → NP_848561.2  BPI fold-containing family A member 3 isoform 1 precursor

      See identical proteins and their annotated locations for NP_848561.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer protein (isoform 1).
      Source sequence(s)
      AI638623, BC066354, BF966133, HY050111
      Consensus CDS
      CCDS13216.2
      UniProtKB/Swiss-Prot
      Q5JWG8, Q6NZ38, Q9BQP9
      Related
      ENSP00000364603.3, ENST00000375454.8
      Conserved Domains (1) summary
      cl00188
      Location:48 → 219
      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_2024_08

    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
      33217310..33227806
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_244132.4 RNA Sequence

      Related
      ENST00000471233.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      34944548..34955045
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_008485231.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BQP9.3 GenPept UniProtKB/Swiss-Prot:Q9BQP9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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