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NBPF10 NBPF member 10 [ Homo sapiens (human) ]

Gene ID: 100132406, updated on 1-Jun-2020

Summary

Official Symbol
NBPF10provided by HGNC
Official Full Name
NBPF member 10provided by HGNC
Primary source
HGNC:HGNC:31992
See related
Ensembl:ENSG00000271425 MIM:614000
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]
Expression
Ubiquitous expression in fat (RPKM 18.0), skin (RPKM 17.6) and 25 other tissues See more
Orthologs

Genomic context

See NBPF10 in Genome Data Viewer
Location:
1q21.1
Exon count:
90
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (146064699..146144804, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (145293371..145368684)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1719 Neighboring gene RNA, variant U1 small nuclear 6 Neighboring gene notch 2 N-terminal like A Neighboring gene uncharacterized LOC105371254

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ20719, FLJ35032, FLJ43804, FLJ55807, MGC182975, DKFZp564A057, DKFZp586O031, DKFZp686C1532

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
neuroblastoma breakpoint family member 10

NCBI Reference Sequences (RefSeq)

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_001039703.6NP_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
    Conserved Domains (1) summary
    pfam06758
    Location:24692531
    DUF1220; Repeat of unknown function (DUF1220)
  2. NM_001302371.3NP_001289300.1  neuroblastoma breakpoint family member 10 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a). This gene lacks full-length transcript support, and thus the exon combination of this variant is inferred to represent the full complement of coding exons based on available partial transcripts, RNA-seq data and paralogous transcript alignments.
    Source sequence(s)
    AC239799
    Consensus CDS
    CCDS76206.1
    UniProtKB/TrEMBL
    A0A075B762
    Related
    ENSP00000463957.6, ENST00000583866.9
    Conserved Domains (1) summary
    pfam06758
    Location:24692531
    DUF1220; Repeat of unknown function (DUF1220)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

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