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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
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Genomic context

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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

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