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    NBPF1 NBPF member 1 [ Homo sapiens (human) ]

    Gene ID: 55672, updated on 21-Dec-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

    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
    NBPF family member NBPF1
    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  NBPF family member NBPF1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC254635, AC277909
      UniProtKB/TrEMBL
      A0AAG2UXK7, A0AAG2UYR2

    2. NM_001405667.2 → NP_001392596.1  NBPF family member NBPF1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC254635, AC277909
      UniProtKB/TrEMBL
      A0AAG2UXK7

    3. NM_001405668.2 → NP_001392597.1  NBPF family member NBPF1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC254635, AC277909
      UniProtKB/TrEMBL
      A0AAG2UXK7

    4. NM_001405669.2 → NP_001392598.1  NBPF family member NBPF1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC254635, AC277909
      UniProtKB/TrEMBL
      A0AAG2UXK7

    5. NM_001405670.2 → NP_001392599.1  NBPF family member NBPF1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC254635, AC277909
      UniProtKB/TrEMBL
      A0AAG2UXK7

    6. NM_001405671.2 → NP_001392600.1  NBPF family member NBPF1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC254635, AC277909
      UniProtKB/TrEMBL
      A0AAG2UXK7

    7. NM_001405672.2 → NP_001392601.1  NBPF family member NBPF1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC254635, AC277909
      UniProtKB/TrEMBL
      A0AAG2UXK7

    8. NM_001405673.2 → NP_001392602.1  NBPF family member NBPF1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC254635, AC277909
      UniProtKB/TrEMBL
      A0AAG2UXK7

    9. NM_001405674.2 → NP_001392603.1  NBPF family member NBPF1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC254635, AC277909
      UniProtKB/TrEMBL
      A0AAG2UXK7

    10. NM_001405675.2 → NP_001392604.1  NBPF family member NBPF1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC254635, AC277909
      UniProtKB/TrEMBL
      A0AAG2UXK7

    11. NM_001405676.2 → NP_001392605.1  NBPF family member NBPF1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC254635, AC277909
      UniProtKB/TrEMBL
      A0AAG2UXK7

    12. NM_001405677.2 → NP_001392606.1  NBPF family member NBPF1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC254635, AC277909
      UniProtKB/TrEMBL
      A0AAG2UXK7

    13. NM_001405678.2 → NP_001392607.1  NBPF family member NBPF1 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC254635, AC277909
      UniProtKB/TrEMBL
      A0AAG2UWE3

    14. NM_001405679.2 → NP_001392608.1  NBPF family member NBPF1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC254635, AC277909
      UniProtKB/TrEMBL
      A0AAG2UXD5

    15. NM_001405680.2 → NP_001392609.1  NBPF family member NBPF1 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC254635, AC277909
      UniProtKB/TrEMBL
      A0AAG2UWE3

    16. NM_001405681.2 → NP_001392610.1  NBPF family member NBPF1 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC254635, AC277909
      UniProtKB/TrEMBL
      A0AAG2UWE3

    17. NM_001405682.2 → NP_001392611.1  NBPF family member NBPF1 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC254635, AC277909
      UniProtKB/TrEMBL
      A0AAG2UWE3

    18. NM_001405683.2 → NP_001392612.1  NBPF family member NBPF1 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC254635, AC277909
      UniProtKB/TrEMBL
      A0AAG2UWE3, A0AAG2UXY5

    19. NM_001405684.2 → NP_001392613.1  NBPF family member NBPF1 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC254635, AC277909
      UniProtKB/TrEMBL
      A0AAG2UWE3, A0AAG2UXY5

    20. NM_001405685.2 → NP_001392614.1  NBPF family member NBPF1 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC254635, AC277909
      UniProtKB/TrEMBL
      A0AAG2UWE3, A0AAG2UXY5

    21. NM_001405686.2 → NP_001392615.1  NBPF family member NBPF1 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC254635, AC277909
      UniProtKB/TrEMBL
      A0AAG2UWE3, A0AAG2UXY5

    22. NM_001405687.2 → NP_001392616.1  NBPF family member NBPF1 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC254635, AC277909
      UniProtKB/TrEMBL
      A0AAG2UWE3, A0AAG2UXY5

    23. NM_001405692.2 → NP_001392621.1  NBPF family member NBPF1 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC254635, AC277909
      UniProtKB/TrEMBL
      A0AAG2UWE3, A0AAG2UXY5

    24. NM_001405693.2 → NP_001392622.1  NBPF family member NBPF1 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC254635, AC277909
      UniProtKB/TrEMBL
      A0AAG2UWE3, A0AAG2UXY5

    25. NM_001405694.2 → NP_001392623.1  NBPF family member NBPF1 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC254635, AC277909
      UniProtKB/TrEMBL
      A0AAG2UWE3, A0AAG2UXY5

    26. NM_001405695.2 → NP_001392624.1  NBPF family member NBPF1 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC254635, AC277909
      UniProtKB/TrEMBL
      A0AAG2UWE3, A0AAG2UXY5

    27. NM_001405696.2 → NP_001392625.1  NBPF family member NBPF1 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC254635, AC277909
      UniProtKB/TrEMBL
      A0AAG2UWE3, A0AAG2UXY5

    28. NM_001405697.2 → NP_001392626.1  NBPF family member NBPF1 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC254635, AC277909
      UniProtKB/TrEMBL
      A0AAG2UXD5

    29. NM_001405698.2 → NP_001392627.1  NBPF family member NBPF1 isoform 9

      Status: VALIDATED

      Source sequence(s)
      AC254635, AC277909
      UniProtKB/TrEMBL
      A0AAG2UWE3

    30. NM_001405699.2 → NP_001392628.1  NBPF family member NBPF1 isoform 10

      Status: VALIDATED

      Source sequence(s)
      AC254635, AC277909
      UniProtKB/TrEMBL
      A0AAG2UWE3

    31. NM_001405700.2 → NP_001392629.1  NBPF family member NBPF1 isoform 11

      Status: VALIDATED

      Source sequence(s)
      AC254635, AC277909
      UniProtKB/TrEMBL
      A0A8V8TNX8

    32. NM_001405701.2 → NP_001392630.1  NBPF family member NBPF1 isoform 12

      Status: VALIDATED

      Source sequence(s)
      AC254635, AC277909
      UniProtKB/TrEMBL
      A0AAG2SUX2

    33. NM_017940.8 → NP_060410.4  NBPF family member NBPF1 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC254635, AC277909
      UniProtKB/TrEMBL
      A0AAG2UWE3, 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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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