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    NBPF1 NBPF member 1 [ Homo sapiens (human) ]

    Gene ID: 55672, updated on 3-Dec-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    Preferred Names
    neuroblastoma breakpoint family member 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

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

      Status: VALIDATED

      Source sequence(s)
      AC254635, AC277909
      UniProtKB/TrEMBL
      A0AAG2UXK7, A0AAG2UYR2
    2. NM_001405667.2NP_001392596.1  neuroblastoma breakpoint family member 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC254635, AC277909
      UniProtKB/TrEMBL
      A0AAG2UXK7
    3. NM_001405668.2NP_001392597.1  neuroblastoma breakpoint family member 1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC254635, AC277909
      UniProtKB/TrEMBL
      A0AAG2UXK7
    4. NM_001405669.2NP_001392598.1  neuroblastoma breakpoint family member 1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC254635, AC277909
      UniProtKB/TrEMBL
      A0AAG2UXK7
    5. NM_001405670.2NP_001392599.1  neuroblastoma breakpoint family member 1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC254635, AC277909
      UniProtKB/TrEMBL
      A0AAG2UXK7
    6. NM_001405671.2NP_001392600.1  neuroblastoma breakpoint family member 1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC254635, AC277909
      UniProtKB/TrEMBL
      A0AAG2UXK7
    7. NM_001405672.2NP_001392601.1  neuroblastoma breakpoint family member 1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC254635, AC277909
      UniProtKB/TrEMBL
      A0AAG2UXK7
    8. NM_001405673.2NP_001392602.1  neuroblastoma breakpoint family member 1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC254635, AC277909
      UniProtKB/TrEMBL
      A0AAG2UXK7
    9. NM_001405674.2NP_001392603.1  neuroblastoma breakpoint family member 1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC254635, AC277909
      UniProtKB/TrEMBL
      A0AAG2UXK7
    10. NM_001405675.2NP_001392604.1  neuroblastoma breakpoint family member 1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC254635, AC277909
      UniProtKB/TrEMBL
      A0AAG2UXK7
    11. NM_001405676.2NP_001392605.1  neuroblastoma breakpoint family member 1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC254635, AC277909
      UniProtKB/TrEMBL
      A0AAG2UXK7
    12. NM_001405677.2NP_001392606.1  neuroblastoma breakpoint family member 1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC254635, AC277909
      UniProtKB/TrEMBL
      A0AAG2UXK7
    13. NM_001405678.2NP_001392607.1  neuroblastoma breakpoint family member 1 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC254635, AC277909
      UniProtKB/TrEMBL
      A0AAG2UWE3
    14. NM_001405679.2NP_001392608.1  neuroblastoma breakpoint family member 1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC254635, AC277909
      UniProtKB/TrEMBL
      A0AAG2UXD5
    15. NM_001405680.2NP_001392609.1  neuroblastoma breakpoint family member 1 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC254635, AC277909
      UniProtKB/TrEMBL
      A0AAG2UWE3
    16. NM_001405681.2NP_001392610.1  neuroblastoma breakpoint family member 1 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC254635, AC277909
      UniProtKB/TrEMBL
      A0AAG2UWE3
    17. NM_001405682.2NP_001392611.1  neuroblastoma breakpoint family member 1 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC254635, AC277909
      UniProtKB/TrEMBL
      A0AAG2UWE3
    18. NM_001405683.2NP_001392612.1  neuroblastoma breakpoint family member 1 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC254635, AC277909
      UniProtKB/TrEMBL
      A0AAG2UWE3, A0AAG2UXY5
    19. NM_001405684.2NP_001392613.1  neuroblastoma breakpoint family member 1 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC254635, AC277909
      UniProtKB/TrEMBL
      A0AAG2UWE3, A0AAG2UXY5
    20. NM_001405685.2NP_001392614.1  neuroblastoma breakpoint family member 1 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC254635, AC277909
      UniProtKB/TrEMBL
      A0AAG2UWE3, A0AAG2UXY5
    21. NM_001405686.2NP_001392615.1  neuroblastoma breakpoint family member 1 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC254635, AC277909
      UniProtKB/TrEMBL
      A0AAG2UWE3, A0AAG2UXY5
    22. NM_001405687.2NP_001392616.1  neuroblastoma breakpoint family member 1 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC254635, AC277909
      UniProtKB/TrEMBL
      A0AAG2UWE3, A0AAG2UXY5
    23. NM_001405692.2NP_001392621.1  neuroblastoma breakpoint family member 1 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC254635, AC277909
      UniProtKB/TrEMBL
      A0AAG2UWE3, A0AAG2UXY5
    24. NM_001405693.2NP_001392622.1  neuroblastoma breakpoint family member 1 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC254635, AC277909
      UniProtKB/TrEMBL
      A0AAG2UWE3, A0AAG2UXY5
    25. NM_001405694.2NP_001392623.1  neuroblastoma breakpoint family member 1 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC254635, AC277909
      UniProtKB/TrEMBL
      A0AAG2UWE3, A0AAG2UXY5
    26. NM_001405695.2NP_001392624.1  neuroblastoma breakpoint family member 1 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC254635, AC277909
      UniProtKB/TrEMBL
      A0AAG2UWE3, A0AAG2UXY5
    27. NM_001405696.2NP_001392625.1  neuroblastoma breakpoint family member 1 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC254635, AC277909
      UniProtKB/TrEMBL
      A0AAG2UWE3, A0AAG2UXY5
    28. NM_001405697.2NP_001392626.1  neuroblastoma breakpoint family member 1 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC254635, AC277909
      UniProtKB/TrEMBL
      A0AAG2UXD5
    29. NM_001405698.2NP_001392627.1  neuroblastoma breakpoint family member 1 isoform 9

      Status: VALIDATED

      Source sequence(s)
      AC254635, AC277909
      UniProtKB/TrEMBL
      A0AAG2UWE3
    30. NM_001405699.2NP_001392628.1  neuroblastoma breakpoint family member 1 isoform 10

      Status: VALIDATED

      Source sequence(s)
      AC254635, AC277909
      UniProtKB/TrEMBL
      A0AAG2UWE3
    31. NM_001405700.2NP_001392629.1  neuroblastoma breakpoint family member 1 isoform 11

      Status: VALIDATED

      Source sequence(s)
      AC254635, AC277909
      UniProtKB/TrEMBL
      A0A8V8TNX8
    32. NM_001405701.2NP_001392630.1  neuroblastoma breakpoint family member 1 isoform 12

      Status: VALIDATED

      Source sequence(s)
      AC254635, AC277909
      UniProtKB/TrEMBL
      A0AAG2SUX2
    33. NM_017940.8NP_060410.4  neuroblastoma breakpoint family member 1 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)