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NBPF14 NBPF member 14 [ Homo sapiens (human) ]

Gene ID: 25832, updated on 10-Oct-2023

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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Location:
1q21.2
Exon count:
71
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (148531385..148596011, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (146192523..146275960)
105.20220307 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
  • 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_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
    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

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Chemical Information
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