Details for: NBPF12

Gene ID: 149013

Gene Type:  Protein-coding  - A gene that serves as a template for producing a messenger RNA (mRNA) molecule, which is then translated into a functional protein.

Symbol: NBPF12

Ensembl ID: ENSG00000268043

Description: NBPF member 12

Cell Significance Landscape

Associated with

Significant Cells

Cell Significance Index (CSI) scores for the chosen context(s)

  • CD14-positive monocyte CL0001054
    CSI 7.37
    rCSI 9.17%
    PRS 93.65
  • centrilobular region hepatocyte CL0019029
    CSI 5.63
    rCSI 14.69%
    PRS 84.05
  • naive B cell CL0000788
    CSI 5.42
    rCSI 4.65%
    PRS 91.11
  • hepatocyte CL0000182
    CSI 5.18
    rCSI 9.27%
    PRS 86.31
  • renal beta-intercalated cell CL0002201
    CSI 3.97
    rCSI 9.46%
    PRS 87.22
  • naive thymus-derived CD8-positive, alpha-beta T cell CL0000900
    CSI 3.76
    rCSI 2.64%
    PRS 95.34
  • secretory cell CL0000151
    CSI 3.59
    rCSI 3.74%
    PRS 86.2
  • alveolar macrophage CL0000583
    CSI 3.28
    rCSI 5.4%
    PRS 89.74
  • melanocyte CL0000148
    CSI 3.21
    rCSI 2.38%
    PRS 82.53
  • midzonal region hepatocyte CL0019028
    CSI 3.17
    rCSI 7.45%
    PRS 85.55
  • Kupffer cell CL0000091
    CSI 3.15
    rCSI 7.21%
    PRS 88.19
  • mucosal invariant T cell CL0000940
    CSI 3.02
    rCSI 2.44%
    PRS 93.04
  • regular ventricular cardiac myocyte CL0002131
    CSI 3
    rCSI 18.76%
    PRS 80.33
  • periportal region hepatocyte CL0019026
    CSI 2.82
    rCSI 10.98%
    PRS 84.99
  • peptic cell CL0000155
    CSI 2.77
    rCSI 27.28%
    PRS 92.8
  • alveolar type 1 fibroblast cell CL4028004
    CSI 2.76
    rCSI 3.02%
    PRS 88.85
  • brush cell of tracheobronchial tree CL0002075
    CSI 2.72
    rCSI 8.07%
    PRS 93.49
  • interneuron CL0000099
    CSI 2.72
    rCSI 5.45%
    PRS 79.95
  • fibroblast of cardiac tissue CL0002548
    CSI 2.7
    rCSI 12.95%
    PRS 87.81
  • chondrocyte CL0000138
    CSI 2.46
    rCSI 3.92%
    PRS 81.75
  • mesodermal cell CL0000222
    CSI 2.43
    rCSI 2.92%
    PRS 85.75
  • neural crest cell CL0011012
    CSI 2.42
    rCSI 1.91%
    PRS 78.7
  • stem cell CL0000034
    CSI 2.41
    rCSI 2.32%
    PRS 82.4
  • lung neuroendocrine cell CL1000223
    CSI 2.36
    rCSI 3.49%
    PRS 89.59
  • luminal epithelial cell of mammary gland CL0002326
    CSI 2.35
    rCSI 4.28%
    PRS 93.5
  • choroid plexus epithelial cell CL0000706
    CSI 2.33
    rCSI 3.81%
    PRS 78.83
  • hepatic stellate cell CL0000632
    CSI 2.32
    rCSI 8.69%
    PRS 81.52
  • differentiation-committed oligodendrocyte precursor CL4023059
    CSI 2.28
    rCSI 4.14%
    PRS 80.13
  • adipocyte CL0000136
    CSI 2.14
    rCSI 2.74%
    PRS 78.17
  • effector memory CD8-positive, alpha-beta T cell CL0000913
    CSI 2.04
    rCSI 1.86%
    PRS 95.49
  • CD14-low, CD16-positive monocyte CL0002396
    CSI 1.92
    rCSI 1.48%
    PRS 90.42
  • kidney connecting tubule epithelial cell CL1000768
    CSI 1.74
    rCSI 4.42%
    PRS 79.67
  • indirect pathway medium spiny neuron CL4023029
    CSI 1.71
    rCSI 41.3%
    PRS 70.28
  • direct pathway medium spiny neuron CL4023026
    CSI 1.71
    rCSI 40.94%
    PRS 69.84
  • astrocyte of the cerebral cortex CL0002605
    CSI 1.71
    rCSI 3.82%
    PRS 72.98
  • lung secretory cell CL1000272
    CSI 1.66
    rCSI 4.12%
    PRS 87.62
  • L5/6 near-projecting glutamatergic neuron CL4030067
    CSI 1.42
    rCSI 4.66%
    PRS 74.64
  • L5 extratelencephalic projecting glutamatergic cortical neuron CL4023041
    CSI 1.41
    rCSI 5.06%
    PRS 70.22
  • cardiac muscle cell CL0000746
    CSI 1.33
    rCSI 1.91%
    PRS 78.53
  • retinal ganglion cell CL0000740
    CSI 1.2
    rCSI 2.64%
    PRS 75.24
  • cardiac neuron CL0010022
    CSI 1.18
    rCSI 3.77%
    PRS 85.47
  • L2/3-6 intratelencephalic projecting glutamatergic neuron CL4023040
    CSI 1.01
    rCSI 2.46%
    PRS 70.01
  • parietal epithelial cell CL1000452
    CSI 0.85
    rCSI 2.26%
    PRS 80.72
  • blood vessel smooth muscle cell CL0019018
    CSI 0.77
    rCSI 6.24%
    PRS 83.3
  • pulmonary alveolar type 1 cell CL0002062
    CSI 0.74
    rCSI 4.27%
    PRS 83.84
  • central nervous system neuron CL2000029
    CSI 0.68
    rCSI 4.97%
    PRS 77.06

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Network Configuration

Explore relationships of the current gene. Select an Interaction Source: 'ONTOLOGY' for shared pathways (GO/Reactome) or 'STRING' for protein-protein interactions. Further refine by selecting context genes and comparing Cell Significance Index (CSI) scores between baseline and target cell types and their specific contexts.

Comma-separated if multiple.
Comma-separated if multiple.
Legend:
  • Query Gene
  • Node Color (Target Cell CSI, relative to current network):
    • Very High
    • High
    • Medium
    • Low
    • Very Low
    • CSI N/A
  • Node Size: Proportional to Target Cell CSI magnitude
  • STRING PPI Edge
  • Shared Pathway Edge (ONTOLOGY)

Loading network (please wait)...

Other Information

This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.

## Summary [NBPF12](/details-gene/149013), or Neuroblastoma Breakpoint Family Member 12, is a protein-coding gene located on human chromosome 1q21.1, a region that has been extensively sequenced and annotated [[Link](https://doi.org/10.1038/nature04727)]. It is part of a complex gene family that has undergone significant gene duplication during primate evolution [[Link](https://doi.org/10.1093/molbev/msi222)]. While its precise molecular function is not fully defined, functional annotation places the protein product within the cytoplasm ([GO:0005737](https://www.ebi.ac.uk/QuickGO/term/GO:0005737)). Expression data indicates that **Overall**, [NBPF12](/details-gene/149013) has a broad but significant presence in diverse tissues, showing the highest significance in myeloid cells such as [CD14-positive monocyte](/details-cell/CL0001054) and in various populations of [hepatocyte](/details-cell/CL0000182), suggesting a potential role in both immune function and liver biology. ## Cellular Roles and Expression Landscape The expression profile of [NBPF12](/details-gene/149013) highlights its importance across multiple, distinct cellular lineages. **Overall**, the gene exhibits its highest significance in the myeloid compartment of the immune system, with [CD14-positive monocyte](/details-cell/CL0001054) (CSI: 7.37) showing the top score. This is further supported by significant expression in other phagocytic cells including [alveolar macrophage](/details-cell/CL0000583) and liver-resident [Kupffer cell](/details-cell/CL0000091). A second major functional context for [NBPF12](/details-gene/149013) is the liver. The gene is highly significant across multiple zonations of liver parenchymal cells, including [centrilobular region hepatocyte](/details-cell/CL0019029) (CSI: 5.63), [hepatocyte](/details-cell/CL0000182) (CSI: 5.18), [midzonal region hepatocyte](/details-cell/CL0019028), and [periportal region hepatocyte](/details-cell/CL0019026). This strong and consistent signal across both immune and metabolic cell types within the liver microenvironment suggests a potential role in hepatic homeostasis and the liver's immune-metabolic axis. Beyond these two primary contexts, [NBPF12](/details-gene/149013) also shows notable significance in components of the adaptive immune system, such as [naive B cell](/details-cell/CL0000788) and [naive thymus-derived CD8-positive, alpha-beta T cell](/details-cell/CL0000900). Expression is also observed in functionally diverse cell types such as [secretory cell](/details-cell/CL0000151), [melanocyte](/details-cell/CL0000148), and [regular ventricular cardiac myocyte](/details-cell/CL0002131), indicating a broad, pleiotropic role that is not restricted to a single tissue or system. ## Pathways and Molecular Function The functional annotation for [NBPF12](/details-gene/149013) is currently limited. The gene product is localized to the cytoplasm ([GO:0005737](https://www.ebi.ac.uk/QuickGO/term/GO:0005737)), which suggests its involvement in intracellular signaling cascades, protein trafficking, or metabolic processes. The NBPF gene family is characterized by its complex genomic structure, arising from extensive gene duplication events, which often complicates functional characterization [[Link](https://doi.org/10.1093/molbev/msi222)]. Notably, [NBPF12](/details-gene/149013) resides on chromosome 1q21, a region frequently subject to genomic amplification in various cancers, suggesting a potential, albeit unproven, role in cell proliferation or survival pathways [[Link](https://doi.org/10.1038/sj.onc.1205339)]. However, the specific pathways regulated by [NBPF12](/details-gene/149013) remain to be elucidated. ## Research Directions The broad expression of [NBPF12](/details-gene/149013) in both key immune and metabolic cells, particularly within the liver, provides fertile ground for future investigation. Its location in a cancer-associated amplified region further increases its research interest. **Proposed Hypotheses:** 1. Given its high significance in both [CD14-positive monocyte](/details-cell/CL0001054) and multiple [hepatocyte](/details-cell/CL0000182) subsets, [NBPF12](/details-gene/149013) may function as a molecular link between myeloid cell-mediated inflammation and hepatocyte metabolic function, potentially regulating processes like steatosis or fibrosis in response to inflammatory cues. 2. Based on its location in the frequently amplified 1q21 region [[Link](https://doi.org/10.1038/sj.onc.1205339)], amplification and subsequent overexpression of [NBPF12](/details-gene/149013) may provide a survival or proliferative advantage to cancer cells, particularly in malignancies of hematopoietic or hepatic origin where it is endogenously expressed. **Experimental Approach:** To test the first hypothesis regarding its role in the liver's immune-metabolic axis, a co-culture experiment could be designed. CRISPR-Cas9 could be used to knock out [NBPF12](/details-gene/149013) in a human monocyte cell line (e.g., THP-1) or in primary human monocytes. These modified monocytes could then be co-cultured with primary human hepatocytes or a hepatocyte cell line (e.g., HepG2). Following stimulation with an inflammatory agent like lipopolysaccharide (LPS), the impact of [NBPF12](/details-gene/149013) loss on hepatocyte health could be assessed by measuring lipid droplet accumulation (via Oil Red O staining), expression of fibrotic markers (e.g., *ACTA2*, *COL1A1*), and release of liver enzymes. Concurrently, cytokine secretion from monocytes (e.g., TNF-α, IL-6) would be quantified to determine if [NBPF12](/details-gene/149013) modulates the inflammatory output. **Therapeutic Potential:** The therapeutic potential of [NBPF12](/details-gene/149013) is speculative but intriguing, primarily in an oncology context. If its overexpression via 1q21 amplification is shown to be a driver of tumorigenesis, it could represent a viable therapeutic target. As a cytoplasmic protein, it would not be accessible to antibody-based therapies but could be a candidate for inhibition by small molecule inhibitors or targeted degradation using proteolysis-targeting chimeras (PROTACs). A therapeutic strategy would focus on inhibition, aiming to counteract the effects of its oncogenic amplification.

Genular Protein ID: 4211631815

Symbol: NBPFC_HUMAN

Name: Neuroblastoma breakpoint family member 12

UniProtKB Accession Codes:

Q5TAG4 A0A087WUF1 O95877

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 DMDM 1 DisGeNET 1 EMBL 3 Ensembl 2 ExpressionAtlas 1 GO 1 GeneCards 1 GeneTree 1 GenomeRNAi 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 1 KEGG 1 MANE-Select 1 MIM 1 MINT 1 MassIVE 1 NCBI Taxonomy 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 RefSeq 1 SMART 1 SMR 1 STRING 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 11948409

Title: Positional cloning identifies a novel cyclophilin as a candidate amplified oncogene in 1q21.

PubMed ID: 11948409

DOI: 10.1038/sj.onc.1205339

PubMed ID: 16079250

Title: A novel gene family NBPF: intricate structure generated by gene duplications during primate evolution.

PubMed ID: 16079250

DOI: 10.1093/molbev/msi222

Sequence Information:

  • Length: 1457
  • Mass: 167689
  • Checksum: 0AE1FB4CBD2C1094
  • Sequence:
    • MVVSAGPWSS EKAEMNILEI NEKLRPQLAE NKQQFRNLKE RCFLTQLAGF LANRQKKYKY 
EECKDLIKFM LRNERQFKEE KLAEQLKQAE ELRQYKVLVH SQERELTQLR EKLREGRDAS 
RSLNEHLQAL LTPDEPDKSQ GQDLQEQLAE GCRLAQQLVQ KLSPENDEDE DEDVQVEEDE 
KVLESSAPRE VQKAEESKVP EDSLEECAIT CSNSHGPCDS IQPHKNIKIT FEEDKVNSTV 
VVDRKSSHDE CQDALNILPV PGPTSSATNV SMVVSAGPLS SEKAEMNILE INEKLRPQLA 
EKKQQFRSLK EKCFVTQLAG FLAKQQNKYK YEECKDLIKS MLRNELQFKE EKLAEQLKQA 
EELRQYKVLV HSQERELTQL REKLREGRDA SRSLNEHLQA LLTPDEPDKS QGQDLQEQLA 
EGCRLAQHLV QKLSPENDED EDEDVQVEED EKVLESSSPR EMQKAEESKV PEDSLEECAI 
TCSNSHGPCD SNQPHKNIKI TFEEDKVNSS LVVDRESSHD ECQDALNILP VPGPTSSATN 
VSMVVSAGPL SSEKAEMNIL EINEKLRPQL AEKKQQFRSL KEKCFVTQVA CFLAKQQNKY 
KYEECKDLLK SMLRNELQFK EEKLAEQLKQ AEELRQYKVL VHSQERELTQ LREKLREGRD 
ASRSLNEHLQ ALLTPDEPDK SQGQDLQEQL AEGCRLAQHL VQKLSPENDN DDDEDVQVEV 
AEKVQKSSSP REMQKAEEKE VPEDSLEECA ITCSNSHGPY DSNQPHRKTK ITFEEDKVDS 
TLIGSSSHVE WEDAVHIIPE NESDDEEEEE KGPVSPRNLQ ESEEEEVPQE SWDEGYSTLS 
IPPERLASYQ SYSSTFHSLE EQQVCMAVDI GRHRWDQVKK EDQEATGPRL SRELLAEKEP 
EVLQDSLDRC YSTPSVYLGL TDSCQPYRSA FYVLEQQRVG LAVDMDEIEK YQEVEEDQDP 
SCPRLSRELL AEKEPEVLQD SLDRCYSTPS GYLELPDLGQ PYRSAVYSLE EQYLGLALDV 
DRIKKDQEEE EDQGPPCPRL SRELLEVVEP EVLQDSLDRC YSTPSSCLEQ PDSCQPYRSS 
FYALEEKHVG FSLDVGEIEK KGKGKKRRGR RSKKKRRRGR KEGEEDQNPP CPRLSRELLA 
EKEPEVLQDS LDRWYSTPSV YLGLTDPCQP YRSAFYVLEQ QRVGLAVDMD EIEKYQEVEE 
DQDPSCPRLS RELLAEKEPE VLQDSLDRCY STPSGYLELP DLGQPYRSAV YSLEEQYLGL 
ALDVDRIKKD QEEEEDQGPP CPRLSRELLE VVEPEVLQDS LDRCYSTPSS CLEQPDSCQP 
YRSSFYALEE KHVGFSLDVG EIEKKGKGKK RRGRRSKKKR RRGRKEGEED QNPPCPRLNS 
VLMEVEEPEV LQDSLDRCYS TPSMYFELPD SFQHYRSVFY SFEEQHITFA LDMDNSFFTL 
TVTSLHLVFQ MGVIFPQ