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    NBPF18P NBPF member 18, pseudogene [ Homo sapiens (human) ]

    Gene ID: 441908, updated on 10-Dec-2024

    Summary

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    Official Symbol
    NBPF18Pprovided by HGNC
    Official Full Name
    NBPF member 18, pseudogeneprovided by HGNC
    Primary source
    HGNC:HGNC:31998
    See related
    AllianceGenome:HGNC:31998
    Gene type
    pseudo
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    This pseudogene 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, Jun 2013]
    Expression
    Restricted expression toward testis (RPKM 2.7) See more
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    Genomic context

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    See NBPF18P in Genome Data Viewer
    Location:
    1q21.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (152018278..152022509)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (151141789..151146020)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (151990754..151994985)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904421 Neighboring gene keratin 8 pseudogene 28 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:151941289-151941789 Neighboring gene S100 calcium binding protein A10 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:151964375-151965574 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1332 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1333 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1334 Neighboring gene Sharpr-MPRA regulatory region 9275 Neighboring gene uncharacterized LOC105371442 Neighboring gene Sharpr-MPRA regulatory region 10037 Neighboring gene Sharpr-MPRA regulatory region 201 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1728 Neighboring gene S100 calcium binding protein A11 Neighboring gene uncharacterized LOC101927949 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:152019998-152021197 Neighboring gene S100A11-TCHHL1 intergenic CAGE-defined high expression enhancer

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. 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
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

    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 studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    General gene information

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    Markers

    Other Names

    • neuroblastoma breakpoint family member 18, pseudogene

    Clone Names

    • AL591893.1, DKFZp434K2231

    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.

    RNA

    1. NR_103561.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL450992

    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
      152018278..152022509
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      151141789..151146020
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NG_005552.3: Suppressed sequence

      Description
      NG_005552.3: This RefSeq was permanently suppressed because it is now thought that this is a transcribed pseudogene.
    Nucleotide Protein
    Heading Accession and Version

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