BPIFB6 BPI fold containing family B member 6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: BPIFB6provided by HGNC
Official Full Name: BPI fold containing family B member 6provided by HGNC
Primary source: HGNC:HGNC:16504
See related: Ensembl:ENSG00000167104 MIM:614110; AllianceGenome:HGNC:16504
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: BPIL3; LPLUNC6
Summary: Predicted to enable lipid binding activity. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 20q11.21

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2023_03	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (33031648..33044108)
RS_2023_03	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (34758339..34770799)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (31619454..31631853)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

study reports on the cellular function of BPIFB6 in the regulation of secretory pathway trafficking and Golgi complex morphology; in addition, findings show that BPIFB6 functions as a positive regulator of enterovirus replication via its regulation of the secretory pathway
Title: BPIFB6 Regulates Secretory Pathway Trafficking and Enterovirus Replication.
Observational study of gene-disease association. (HuGE Navigator)
Title: New genetic associations detected in a host response study to hepatitis B vaccine.
BPIL3 maps to Chromosome 20q11; thus, these novel genes form a cluster with BPI and two other members of the LT/LBP gene family on the long arm of human Chr 20. AA sequence is reported.
Title: Three new human members of the lipid transfer/lipopolysaccharide binding protein family (LT/LBP).

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Homology

Homologs of the BPIFB6 gene: The BPIFB6 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, and rat.
Orthologs from Annotation Pipeline: 236 organisms have orthologs with human gene BPIFB6
Orthologs

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 B member 6

Names: bactericidal/permeability-increasing protein-like 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)

NM_174897.2 → NP_777557.1 BPI fold-containing family B member 6 precursor

See identical proteins and their annotated locations for NP_777557.1

Status: VALIDATED

Source sequence(s)

AF465767, BC113122

Consensus CDS

CCDS13211.1

UniProtKB/Swiss-Prot

Q8NFQ5

Related

ENSP00000344929.1, ENST00000349552.1

Conserved Domains (2) summary

cd00025
Location:21 → 227

BPI1; BPI/LBP/CETP N-terminal domain; Bactericidal permeability-increasing protein (BPI) / Lipopolysaccharide-binding protein (LBP) / Cholesteryl ester transfer protein (CETP) N-terminal domain; binds to and neutralizes lipopolysaccharides from the outer ...

cl00188
Location:274 → 448

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 ...