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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
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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.

Chemical Information
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