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    NBPF9 NBPF member 9 [ Homo sapiens (human) ]

    Gene ID: 400818, updated on 13-Feb-2019

    Summary

    Official Symbol
    NBPF9provided by HGNC
    Official Full Name
    NBPF member 9provided by HGNC
    Primary source
    HGNC:HGNC:31991
    See related
    Ensembl:ENSG00000269713 MIM:613999
    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
    AE01
    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]
    Expression
    Ubiquitous expression in skin (RPKM 26.6), ovary (RPKM 24.3) and 25 other tissues See more

    Genomic context

    See NBPF9 in Genome Data Viewer
    Location:
    1q21.2
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (149054033..149082311, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (144811743..144830407)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene phosphodiesterase 4D interacting protein Neighboring gene uncharacterized LOC112268272 Neighboring gene RNA, U2 small nuclear 38, pseudogene Neighboring gene profilin-1-like Neighboring gene uncharacterized LOC101929790

    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

    Clone Names

    • FLJ37711, FLJ60244, KIAA1245

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    neuroblastoma breakpoint family member 9

    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_001037675.3NP_001032764.2  neuroblastoma breakpoint family member 9 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks four exons in the 3' coding region, compared to variant 1, and encodes a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AC239804, AK294414, AY894574, BC071995, BQ436001
      Consensus CDS
      CCDS72895.1
      UniProtKB/Swiss-Prot
      Q3BBV1
      UniProtKB/TrEMBL
      A0A087WY26, B4DG53
      Related
      ENSP00000483900.1, ENST00000613595.4
      Conserved Domains (1) summary
      pfam06758
      Location:761823
      DUF1220; Repeat of unknown function (DUF1220)
    2. NM_001277444.1NP_001264373.1  neuroblastoma breakpoint family member 9 isoform 1

      See identical proteins and their annotated locations for NP_001264373.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC239804, AK294414, AY894574, BC071995, BQ436001
      Consensus CDS
      CCDS72896.1
      UniProtKB/Swiss-Prot
      Q3BBV1
      UniProtKB/TrEMBL
      A0A075B761, B4DG53
      Related
      ENSP00000463665.4, ENST00000584027.8
      Conserved Domains (2) summary
      pfam06758
      Location:757822
      DUF1220; Repeat of unknown function (DUF1220)
      cl25732
      Location:10401
      SMC_N; RecF/RecN/SMC N terminal domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

      Range
      149054033..149082311 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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