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NBPF8 NBPF member 8 [ Homo sapiens (human) ]

Gene ID: 728841, updated on 3-Apr-2024

Summary

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Official Symbol
NBPF8provided by HGNC
Official Full Name
NBPF member 8provided by HGNC
Primary source
HGNC:HGNC:31990
See related
Ensembl:ENSG00000270231 MIM:613998; AllianceGenome:HGNC:31990
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
NBPF8P
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 21.3), lymph node (RPKM 19.0) and 25 other tissues See more
Orthologs
all
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Genomic context

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Location:
1p11.2
Exon count:
30
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (120415027..120469676)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (120428197..120482975)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (146030695..146082439, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene U1 spliceosomal RNA Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:144533911-144534909 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:144538085-144538656 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:144539249-144539810 Neighboring gene uncharacterized LOC101929788 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:144582720-144583220 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:144583221-144583722 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:144592931-144593854 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:144593855-144594776 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:144603371-144603926 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:144603927-144604483 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:144604484-144605039 Neighboring gene profilin 1 pseudogene 2 Neighboring gene PDE4DIP pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1601 Neighboring gene uncharacterized LOC107985524 Neighboring gene uncharacterized LOC124904641

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. DUF1220-domain copy number implicated in human brain-size pathology and evolution. Dumas LJ, et al. Am J Hum Genet, 2012 Sep 7. PMID 22901949, Free PMC Article
  2. Three novel genes tied to mandibular prognathism in eastern Mediterranean families. Genno PG, et al. Am J Orthod Dentofacial Orthop, 2019 Jul. PMID 31256822
  3. Evolutionary history and genome organization of DUF1220 protein domains. O'Bleness MS, et al. G3 (Bethesda), 2012 Sep. PMID 22973535, Free PMC Article
  4. 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
  5. Proteomic analysis of the cullin 4B interactome using proximity-dependent biotinylation in living cells. Zhang H, et al. Proteomics, 2017 Apr. PMID 28225217

See all (10) citations in PubMed

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 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

Homology

Clone Names

  • MGC99641

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
putative neuroblastoma breakpoint family member 8
Names
neuroblastoma breakpoint family member 8
neuroblastoma breakpoint family, member 8, pseudogene

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_001037501.5 → NP_001032590.2  putative neuroblastoma breakpoint family member 8

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the protein.
    Source sequence(s)
    AC241952
    Consensus CDS
    CCDS91029.1
    UniProtKB/TrEMBL
    A0A087WWQ1, A0A8V8TN03
    Related
    ENSP00000513610.1, ENST00000698216.1
    Conserved Domains (1) summary
    pfam06758
    Location:761 → 823
    DUF1220; Repeat of unknown function (DUF1220)

RNA

  1. NR_102404.3 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC241952

  2. NR_102405.3 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC241952

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
    120415027..120469676
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047429836.1 → XP_047285792.1  putative neuroblastoma breakpoint family member 8 isoform X1

  2. XM_047429843.1 → XP_047285799.1  putative neuroblastoma breakpoint family member 8 isoform X2

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_025791753.1 Reference GRCh38.p14 PATCHES

    Range
    32404..80662
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    120428197..120482975
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054338598.1 → XP_054194573.1  putative neuroblastoma breakpoint family member 8 isoform X1

  2. XM_054338599.1 → XP_054194574.1  putative neuroblastoma breakpoint family member 8 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q3BBV2.1 GenPept UniProtKB/Swiss-Prot:Q3BBV2

Gene LinkOut

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Chemical Information
Molecular Biology Databases
Research Materials
Miscellaneous