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    NBPF14 NBPF member 14 [ Homo sapiens (human) ]

    Gene ID: 25832, updated on 2-Nov-2024

    Summary

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    Official Symbol
    NBPF14provided by HGNC
    Official Full Name
    NBPF member 14provided by HGNC
    Primary source
    HGNC:HGNC:25232
    See related
    Ensembl:ENSG00000270629 MIM:614003; AllianceGenome:HGNC:25232
    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
    AE5; NBPF; DJ328E19.C1.1
    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, May 2013]
    Expression
    Ubiquitous expression in skin (RPKM 28.2), ovary (RPKM 24.3) and 25 other tissues See more
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    Genomic context

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    See NBPF14 in Genome Data Viewer
    Location:
    1q21.2
    Exon count:
    71
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (148531385..148596011, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (146192523..146275960)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (146395055..146467744)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1286 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1649 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1287 Neighboring gene RNA, variant U1 small nuclear 27 Neighboring gene tRNA-Asn (anticodon GTT) 2-1 Neighboring gene notch 2 N-terminal like B Neighboring gene NANOG hESC enhancer GRCh37_chr1:145241463-145242092 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1650 Neighboring gene uncharacterized LOC105371223 Neighboring gene uncharacterized LOC105371222

    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 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. Evolutionary history and genome organization of DUF1220 protein domains. O'Bleness MS, et al. G3 (Bethesda), 2012 Sep. PMID 22973535, Free PMC Article
    2. Genome-wide association study implicates PARD3B-based AIDS restriction. Troyer JL, et al. J Infect Dis, 2011 May 15. PMID 21502085, Free PMC Article
    3. 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
    4. Why do cellular proteins linked to K63-polyubiquitin chains not associate with proteasomes? Nathan JA, et al. EMBO J, 2013 Feb 20. PMID 23314748, Free PMC Article
    5. Proteome-scale mapping of binding sites in the unstructured regions of the human proteome. Benz C, et al. Mol Syst Biol, 2022 Jan. PMID 35044719, Free PMC Article

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study implicates PARD3B-based AIDS restriction.
    EBI GWAS Catalog

    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

    Clone Names

    • FLJ35032, FLJ60520

    Gene Ontology Provided by GOA

    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 14

    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_001395631.1 → NP_001382560.1  neuroblastoma breakpoint family member 14 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC239811
      Consensus CDS
      CCDS91039.1
      UniProtKB/TrEMBL
      A0A087WVU4
      Related
      ENSP00000479693.1, ENST00000619423.4
      Conserved Domains (1) summary
      TIGR02168
      Location:11 → 421
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type

    2. NM_015383.2 → NP_056198.2  neuroblastoma breakpoint family member 14 isoform 1

      See identical proteins and their annotated locations for NP_056198.2

      Status: REVIEWED

      Source sequence(s)
      AC239811
      UniProtKB/TrEMBL
      A0A087WZJ2
      Related
      ENSP00000482693.1, ENST00000614999.4
      Conserved Domains (1) summary
      pfam06758
      Location:1981 → 2043
      DUF1220; Repeat of unknown function (DUF1220)

    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
      148531385..148596011 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      146192523..146275960
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5TI25.2 GenPept UniProtKB/Swiss-Prot:Q5TI25

    Gene LinkOut

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

    Chemical Information
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