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    NBPF10 NBPF member 10 [ Homo sapiens (human) ]

    Gene ID: 100132406, updated on 3-Apr-2024

    Summary

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    Official Symbol
    NBPF10provided by HGNC
    Official Full Name
    NBPF member 10provided by HGNC
    Primary source
    HGNC:HGNC:31992
    See related
    Ensembl:ENSG00000271425 MIM:614000; AllianceGenome:HGNC:31992
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AB6; AG1; NBPF9
    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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
    Annotation information
    Annotation category: suggests misassembly
    Expression
    Ubiquitous expression in fat (RPKM 18.0), skin (RPKM 17.6) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See NBPF10 in Genome Data Viewer
    Location:
    1q21.1
    Exon count:
    90
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (146064699..146144804, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (145181688..145261614, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (145293371..145370303)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr1:145382090-145382818 and GRCh37_chr1:145382819-145383547 Neighboring gene long intergenic non-protein coding RNA 1719 Neighboring gene RNA, variant U1 small nuclear 6 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:145293725-145294226 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:145290760-145290947 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:145281548-145282067 Neighboring gene notch 2 N-terminal like A Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:145260143-145260725 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:145255431-145255931 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:145254930-145255430 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:145245299-145245491 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:145239247-145239446 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:145209507-145210007 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:145209006-145209506 Neighboring gene uncharacterized LOC105371254 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:145185134-145185664 Neighboring gene uncharacterized LOC124904401

    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. Bioinformatics analysis reveals disturbance mechanism of MAPK signaling pathway and cell cycle in Glioblastoma multiforme. Li W, et al. Gene, 2014 Sep 1. PMID 24967941
    2. Characterization of the genomic features and expressed fusion genes in micropapillary carcinomas of the breast. Natrajan R, et al. J Pathol, 2014 Apr. PMID 24395524, Free PMC Article
    3. Copy number variation at 1q21.1 associated with neuroblastoma. Diskin SJ, et al. Nature, 2009 Jun 18. PMID 19536264, Free PMC Article
    4. Automated phosphoproteome analysis for cultured cancer cells by two-dimensional nanoLC-MS using a calcined titania/C18 biphasic column. Imami K, et al. Anal Sci, 2008 Jan. PMID 18187866
    5. A novel gene family NBPF: intricate structure generated by gene duplications during primate evolution. Vandepoele K, et al. Mol Biol Evol, 2005 Nov. PMID 16079250

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    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)

    Genotypes

    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, FLJ35032, FLJ43804, FLJ55807, MGC182975, DKFZp564A057, DKFZp586O031, DKFZp686C1532

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA 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 10

    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_001039703.6 → NP_001034792.4  neuroblastoma breakpoint family member 10 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks four alternate exons, resulting in the loss of an in-frame portion of the 3' coding region, compared to variant 1. The encoded isoform (b) is shorter than isoform a. This gene lacks full-length transcript support, and thus the exon combination of this variant is inferred based on data in PMID:16079250.
      Source sequence(s)
      AC239799
      UniProtKB/TrEMBL
      A2BGT6
      Conserved Domains (1) summary
      pfam06758
      Location:2469 → 2531
      DUF1220; Repeat of unknown function (DUF1220)

    2. NM_001302371.3 → NP_001289300.1  neuroblastoma breakpoint family member 10 isoform a

      Status: REVIEWED

      Source sequence(s)
      AC239799
      Consensus CDS
      CCDS76206.1
      UniProtKB/Swiss-Prot
      A0A075B762, Q5RHC0, Q6P3W6, Q9NWN6
      UniProtKB/TrEMBL
      A2BH96
      Related
      ENSP00000463957.6, ENST00000583866.9
      Conserved Domains (1) summary
      pfam06758
      Location:2469 → 2531
      DUF1220; Repeat of unknown function (DUF1220)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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
      146064699..146144804 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      145181688..145261614 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047443691.1 → XP_047299647.1  neuroblastoma breakpoint family member 10 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6P3W6.3 GenPept UniProtKB/Swiss-Prot:Q6P3W6

    Gene LinkOut

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

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