NBPF6 Gene

HGNC Family Neuroblastoma breakpoint family (NBPF)
Name neuroblastoma breakpoint family, member 6
Description This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, cognitive disability, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Mar 2013]
Summary
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nRecent investigations have identified pleckstrin homology-like domain family B member 1 (PHLDB1) as a critical enhancer of insulin signaling in adipocytes. PHLDB1 contains a pleckstrin homology domain that binds phosphoinositides—including PI(3,4)P₂, PI(3,5)P₂, and PI(3,4,5)P₃—enabling its translocation from the cytoplasm to the plasma membrane upon insulin stimulation. This repositioning facilitates the activation of Akt and its downstream effectors, such as p70 S6 kinase, thereby promoting GLUT4 membrane translocation and increasing deoxyglucose uptake. Conversely, depletion of PHLDB1 by RNAi impairs insulin-stimulated Akt phosphorylation and GLUT4 translocation, underlining its essential role as a modulator of insulin-mediated metabolic responses."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Qiong L Zhou, Zhen Y Jiang, Allan S Mabardy, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A novel pleckstrin homology domain-containing protein enhances insulin-stimulated Akt phosphorylation and GLUT4 translocation in adipocytes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M110.146886"}], "href": "https://doi.org/10.1074/jbc.M110.146886"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20587420"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20587420"}]}]}]}
Proteins NBPF6_HUMAN
NCBI Gene ID 653149
API
Download Associations
Predicted Functions View NBPF6's ARCHS4 Predicted Functions.
Co-expressed Genes View NBPF6's ARCHS4 Predicted Functions.
Expression in Tissues and Cell Lines View NBPF6's ARCHS4 Predicted Functions.

Functional Associations

NBPF6 has 647 functional associations with biological entities spanning 7 categories (molecular profile, functional term, phrase or reference, disease, phenotype or trait, chemical, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 30 datasets.

Click the + buttons to view associations for NBPF6 from the datasets below.

If available, associations are ranked by standardized value

Dataset Summary
Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles tissue samples with high or low expression of NBPF6 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
CCLE Cell Line Gene CNV Profiles cell lines with high or low copy number of NBPF6 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
ChEA Transcription Factor Binding Site Profiles transcription factor binding site profiles with transcription factor binding evidence at the promoter of NBPF6 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
ChEA Transcription Factor Targets transcription factors binding the promoter of NBPF6 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
ChEA Transcription Factor Targets 2022 transcription factors binding the promoter of NBPF6 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
COMPARTMENTS Curated Protein Localization Evidence Scores cellular components containing NBPF6 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 cellular components co-occuring with NBPF6 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
COSMIC Cell Line Gene CNV Profiles cell lines with high or low copy number of NBPF6 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
COSMIC Cell Line Gene Mutation Profiles cell lines with NBPF6 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 diseases co-occuring with NBPF6 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
ENCODE Transcription Factor Binding Site Profiles transcription factor binding site profiles with transcription factor binding evidence at the promoter of NBPF6 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
ENCODE Transcription Factor Targets transcription factors binding the promoter of NBPF6 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
GEO Signatures of Differentially Expressed Genes for Gene Perturbations gene perturbations changing expression of NBPF6 gene from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset.
GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations transcription factor perturbations changing expression of NBPF6 gene from the GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations dataset.
GO Cellular Component Annotations 2015 cellular components containing NBPF6 protein from the curated GO Cellular Component Annotations 2015 dataset.
GTEx Tissue Gene Expression Profiles tissues with high or low expression of NBPF6 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles dataset.
GTEx Tissue Gene Expression Profiles 2023 tissues with high or low expression of NBPF6 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset.
Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles cell lines with high or low expression of NBPF6 gene relative to other cell lines from the Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles dataset.
HPA Tissue Gene Expression Profiles tissues with high or low expression of NBPF6 gene relative to other tissues from the HPA Tissue Gene Expression Profiles dataset.
HPA Tissue Protein Expression Profiles tissues with high or low expression of NBPF6 protein relative to other tissues from the HPA Tissue Protein Expression Profiles dataset.
HPA Tissue Sample Gene Expression Profiles tissue samples with high or low expression of NBPF6 gene relative to other tissue samples from the HPA Tissue Sample Gene Expression Profiles dataset.
InterPro Predicted Protein Domain Annotations protein domains predicted for NBPF6 protein from the InterPro Predicted Protein Domain Annotations dataset.
JASPAR Predicted Human Transcription Factor Targets 2025 transcription factors regulating expression of NBPF6 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Human Transcription Factor Targets dataset.
Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles cell lines with high or low copy number of NBPF6 gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles dataset.
KnockTF Gene Expression Profiles with Transcription Factor Perturbations transcription factor perturbations changing expression of NBPF6 gene from the KnockTF Gene Expression Profiles with Transcription Factor Perturbations dataset.
LOCATE Predicted Protein Localization Annotations cellular components predicted to contain NBPF6 protein from the LOCATE Predicted Protein Localization Annotations dataset.
RummaGEO Drug Perturbation Signatures drug perturbations changing expression of NBPF6 gene from the RummaGEO Drug Perturbation Signatures dataset.
RummaGEO Gene Perturbation Signatures gene perturbations changing expression of NBPF6 gene from the RummaGEO Gene Perturbation Signatures dataset.
TCGA Signatures of Differentially Expressed Genes for Tumors tissue samples with high or low expression of NBPF6 gene relative to other tissue samples from the TCGA Signatures of Differentially Expressed Genes for Tumors dataset.
TISSUES Experimental Tissue Protein Expression Evidence Scores tissues with high expression of NBPF6 protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores dataset.