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NBPF1 NBPF member 1 [ Homo sapiens (human) ]

Gene ID: 55672, updated on 27-Nov-2024

Summary

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Official Symbol
NBPF1provided by HGNC
Official Full Name
NBPF member 1provided by HGNC
Primary source
HGNC:HGNC:26088
See related
Ensembl:ENSG00000219481 MIM:610501; AllianceGenome:HGNC:26088
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
AD2; NBG; AB13; AB14; AB23; NBPF
Summary
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. [provided by RefSeq, Apr 2013]
Annotation information
Annotation category: partial on reference assembly
Expression
Ubiquitous expression in testis (RPKM 28.4), ovary (RPKM 16.7) and 25 other tissues See more
Orthologs
all
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Genomic context

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See NBPF1 in Genome Data Viewer
Location:
1p36.13
Exon count:
31
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (16562423..16613564, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (16004103..16075615, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (16888918..16940059, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene PDE4DIP pseudogene 8 Neighboring gene tRNA-Lys (CTT) 7-1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16881397-16881897 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16890771-16891648 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16892527-16893404 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr1:16893405-16894282 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:16902769-16903269 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:16916551-16917050 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:16918378-16918567 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:16929815-16930315 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:16933765-16934266 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:16934267-16934766 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16939903-16940860 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16945048-16945716 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16945717-16946384 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16946385-16947053 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16950326-16950836 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 334 Neighboring gene CROCC pseudogene 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:16963058-16963558 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16964533-16965424 Neighboring gene CROCC pseudogene 2 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr1:16970879-16971669 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16971670-16972459 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16973171-16973790 Neighboring gene macrophage stimulating 1 pseudogene 2

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
  • 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. Oncogene or tumor suppressor gene: An integrated pan-cancer analysis of NBPF1. Li L, et al. Front Endocrinol (Lausanne), 2022. PMID 36060966, Free PMC Article
  2. NBPF1, a tumor suppressor candidate in neuroblastoma, exerts growth inhibitory effects by inducing a G1 cell cycle arrest. Andries V, et al. BMC Cancer, 2015 May 10. PMID 25958384, Free PMC Article
  3. NBPF1 independently determine the risk stratification and prognosis of patients with neuroblastoma. Zhang J, et al. Genomics, 2020 Nov. PMID 32619576
  4. Tumor-Suppressor Gene NBPF1 Inhibits Invasion and PI3K/mTOR Signaling in Cervical Cancer Cells. Qin Y, et al. Oncol Res, 2016 Jan 21. PMID 26802646, Free PMC Article
  5. Effects of neuroblastoma breakpoint family member 1 (NBPF1) gene on growth and Akt-p53-Cyclin D pathway in cutaneous squamous carcinoma cells. Gao Y, et al. Neoplasma, 2019 Jul 23. PMID 31058534

See all (22) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Oncogene or tumor suppressor gene: An integrated pan-cancer analysis of NBPF1.
    Title: Oncogene or tumor suppressor gene: An integrated pan-cancer analysis of NBPF1.
  2. NBPF1 independently determine the risk stratification and prognosis of patients with neuroblastoma.
    Title: NBPF1 independently determine the risk stratification and prognosis of patients with neuroblastoma.
  3. Upregulation of NBPF1 might promote apoptosis of A431 squamous carcinoma cells and block cell cycle via inhibiting the activation of Akt-p53-Cyclin signaling pathway
    Title: Effects of neuroblastoma breakpoint family member 1 (NBPF1) gene on growth and Akt-p53-Cyclin D pathway in cutaneous squamous carcinoma cells.
  4. NBPF1 overexpression may be a suppressor for cervical cancer via affecting cell invasion and apoptosis through regulating PI3K/mTOR signaling pathway.
    Title: Tumor-Suppressor Gene NBPF1 Inhibits Invasion and PI3K/mTOR Signaling in Cervical Cancer Cells.
  5. We demonstrated that NBPF1 exerts different tumor suppressive effects, depending on the cell line analyzed, and provide new clues into the molecular mechanism of the enigmatic NBPF proteins.
    Title: NBPF1, a tumor suppressor candidate in neuroblastoma, exerts growth inhibitory effects by inducing a G1 cell cycle arrest.
  6. Chibby and clusterin were co-immunoprecipitated with NBPF1.
    Title: Chibby interacts with NBPF1 and clusterin, two candidate tumor suppressors linked to neuroblastoma.
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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Markers

Homology

Clone Names

  • FLJ20719, KIAA1693

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
neuroblastoma breakpoint family member 1

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_001405666.3 → NP_001392595.1  neuroblastoma breakpoint family member 1 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909
    UniProtKB/TrEMBL
    A0AAG2UYR2

  2. NM_001405667.2 → NP_001392596.1  neuroblastoma breakpoint family member 1 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909

  3. NM_001405668.2 → NP_001392597.1  neuroblastoma breakpoint family member 1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909

  4. NM_001405669.2 → NP_001392598.1  neuroblastoma breakpoint family member 1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909

  5. NM_001405670.2 → NP_001392599.1  neuroblastoma breakpoint family member 1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909

  6. NM_001405671.2 → NP_001392600.1  neuroblastoma breakpoint family member 1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909

  7. NM_001405672.2 → NP_001392601.1  neuroblastoma breakpoint family member 1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909

  8. NM_001405673.2 → NP_001392602.1  neuroblastoma breakpoint family member 1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909

  9. NM_001405674.2 → NP_001392603.1  neuroblastoma breakpoint family member 1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909

  10. NM_001405675.2 → NP_001392604.1  neuroblastoma breakpoint family member 1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909

  11. NM_001405676.2 → NP_001392605.1  neuroblastoma breakpoint family member 1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909

  12. NM_001405677.2 → NP_001392606.1  neuroblastoma breakpoint family member 1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909

  13. NM_001405678.2 → NP_001392607.1  neuroblastoma breakpoint family member 1 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909

  14. NM_001405679.2 → NP_001392608.1  neuroblastoma breakpoint family member 1 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909

  15. NM_001405680.2 → NP_001392609.1  neuroblastoma breakpoint family member 1 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909

  16. NM_001405681.2 → NP_001392610.1  neuroblastoma breakpoint family member 1 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909

  17. NM_001405682.2 → NP_001392611.1  neuroblastoma breakpoint family member 1 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909

  18. NM_001405683.2 → NP_001392612.1  neuroblastoma breakpoint family member 1 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909
    UniProtKB/TrEMBL
    A0AAG2UXY5

  19. NM_001405684.2 → NP_001392613.1  neuroblastoma breakpoint family member 1 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909
    UniProtKB/TrEMBL
    A0AAG2UXY5

  20. NM_001405685.2 → NP_001392614.1  neuroblastoma breakpoint family member 1 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909
    UniProtKB/TrEMBL
    A0AAG2UXY5

  21. NM_001405686.2 → NP_001392615.1  neuroblastoma breakpoint family member 1 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909
    UniProtKB/TrEMBL
    A0AAG2UXY5

  22. NM_001405687.2 → NP_001392616.1  neuroblastoma breakpoint family member 1 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909
    UniProtKB/TrEMBL
    A0AAG2UXY5

  23. NM_001405692.2 → NP_001392621.1  neuroblastoma breakpoint family member 1 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909
    UniProtKB/TrEMBL
    A0AAG2UXY5

  24. NM_001405693.2 → NP_001392622.1  neuroblastoma breakpoint family member 1 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909
    UniProtKB/TrEMBL
    A0AAG2UXY5

  25. NM_001405694.2 → NP_001392623.1  neuroblastoma breakpoint family member 1 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909
    UniProtKB/TrEMBL
    A0AAG2UXY5

  26. NM_001405695.2 → NP_001392624.1  neuroblastoma breakpoint family member 1 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909
    UniProtKB/TrEMBL
    A0AAG2UXY5

  27. NM_001405696.2 → NP_001392625.1  neuroblastoma breakpoint family member 1 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909
    UniProtKB/TrEMBL
    A0AAG2UXY5

  28. NM_001405697.2 → NP_001392626.1  neuroblastoma breakpoint family member 1 isoform 8

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909

  29. NM_001405698.2 → NP_001392627.1  neuroblastoma breakpoint family member 1 isoform 9

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909

  30. NM_001405699.2 → NP_001392628.1  neuroblastoma breakpoint family member 1 isoform 10

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909

  31. NM_001405700.2 → NP_001392629.1  neuroblastoma breakpoint family member 1 isoform 11

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909

  32. NM_001405701.2 → NP_001392630.1  neuroblastoma breakpoint family member 1 isoform 12

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909

  33. NM_017940.8 → NP_060410.4  neuroblastoma breakpoint family member 1 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC254635, AC277909
    UniProtKB/TrEMBL
    A0AAG2UXY5
    Related
    ENSP00000474456.1, ENST00000430580.6

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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    16562423..16613564 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_025791756.1 Reference GRCh38.p14 PATCHES

    Range
    1198562..1260697
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    16004103..16075615 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q3BBV0.2 GenPept UniProtKB/Swiss-Prot:Q3BBV0

Gene LinkOut

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