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Aliases for NBPF1 Gene

Aliases for NBPF1 Gene

  • Neuroblastoma Breakpoint Family, Member 1 2 3
  • KIAA1693 4 6
  • Neuroblastoma Breakpoint Family Member 1 3
  • AB14 3
  • NBPF 3
  • AB13 3
  • AB23 3
  • AD2 3
  • NBG 3

External Ids for NBPF1 Gene

Previous GeneCards Identifiers for NBPF1 Gene

  • GC01M016666
  • GC01M016764
  • GC01M016888
  • GC01M015383

Summaries for NBPF1 Gene

Entrez Gene Summary for NBPF1 Gene

  • 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, mental retardation, 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]

GeneCards Summary for NBPF1 Gene

NBPF1 (Neuroblastoma Breakpoint Family, Member 1) is a Protein Coding gene. Diseases associated with NBPF1 include congenital heart disease and neuroblastoma. An important paralog of this gene is NBPF3.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NBPF1 Gene

Genomics for NBPF1 Gene

Regulatory Elements for NBPF1 Gene

Genomic Location for NBPF1 Gene

16,562,319 bp from pter
16,613,605 bp from pter
51,287 bases
Minus strand

Genomic View for NBPF1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NBPF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NBPF1 Gene

Proteins for NBPF1 Gene

  • Protein details for NBPF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Neuroblastoma breakpoint family member 1
    Protein Accession:
    Secondary Accessions:
    • Q8N4E8
    • Q9C0H0

    Protein attributes for NBPF1 Gene

    1214 amino acids
    Molecular mass:
    139343 Da
    Quaternary structure:
    No Data Available
    • Encoded by one of the numerous copies of NBPF genes clustered in the p36, p12 and q21 region of the chromosome 1

neXtProt entry for NBPF1 Gene

Proteomics data for NBPF1 Gene at MOPED

Post-translational modifications for NBPF1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NBPF1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for NBPF1 Gene

Domains for NBPF1 Gene

Gene Families for NBPF1 Gene

  • NBPF :neuroblastoma breakpoint family

Protein Domains for NBPF1 Gene


Suggested Antigen Peptide Sequences for NBPF1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Q3BBV0
  • Contains 8 NBPF domains.
  • Belongs to the NBPF family.
genes like me logo Genes that share domains with NBPF1: view

Function for NBPF1 Gene

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NBPF1

In Situ Assay Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for NBPF1 Gene

Localization for NBPF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NBPF1 Gene


Subcellular locations from

Jensen Localization Image for NBPF1 Gene COMPARTMENTS Subcellular localization image for NBPF1 gene
Compartment Confidence
nucleus 3
cytosol 2

Gene Ontology (GO) - Cellular Components for NBPF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with NBPF1: view

Pathways for NBPF1 Gene

SuperPathways for NBPF1 Gene

No Data Available

Interacting Proteins for NBPF1 Gene

Gene Ontology (GO) - Biological Process for NBPF1 Gene


No data available for Pathways by source for NBPF1 Gene

Transcripts for NBPF1 Gene

Unigene Clusters for NBPF1 Gene

Neuroblastoma breakpoint family, member 1:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NBPF1

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NBPF1 Gene

No ASD Table

Relevant External Links for NBPF1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for NBPF1 Gene

mRNA expression in normal human tissues for NBPF1 Gene

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for NBPF1 Gene

SOURCE GeneReport for Unigene cluster for NBPF1 Gene Hs.467587

mRNA Expression by UniProt/SwissProt for NBPF1 Gene

Tissue specificity: Widely expressed. The only tissue which shows a weak expression is kidney.
genes like me logo Genes that share expressions with NBPF1: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues and Expression partners for NBPF1 Gene

Orthologs for NBPF1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for NBPF1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia LOC458021 35
  • 90.11 (n)
  • 82.93 (a)
-- 36
  • 99 (a)
-- 36
  • 99 (a)
-- 36
  • 79 (a)
-- 36
  • 99 (a)
-- 36
  • 83 (a)
-- 36
  • 99 (a)
-- 36
  • 81 (a)
(Bos Taurus)
Mammalia -- 36
  • 28 (a)
-- 36
  • 31 (a)
(Canis familiaris)
Mammalia -- 36
  • 35 (a)
Species with no ortholog for NBPF1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for NBPF1 Gene

Gene Tree for NBPF1 (if available)
Gene Tree for NBPF1 (if available)

Paralogs for NBPF1 Gene

Paralogs for NBPF1 Gene

genes like me logo Genes that share paralogs with NBPF1: view

Variants for NBPF1 Gene

Sequence variations from dbSNP and Humsavar for NBPF1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
VAR_032364 -
VAR_032365 -
VAR_032366 -
VAR_032367 -
VAR_032368 -

Structural Variations from Database of Genomic Variants (DGV) for NBPF1 Gene

Variant ID Type Subtype PubMed ID
dgv28e1 CNV Complex 17122850
dgv29e1 CNV Complex 17122850
nsv428421 CNV Gain+Loss 18775914
dgv1n68 CNV Loss 17160897
nsv9324 CNV Gain+Loss 18304495
nsv870673 CNV Gain 21882294
nsv436814 CNV Insertion 17901297
esv2750816 CNV Gain 17911159
dgv30e1 CNV Complex 17122850
dgv20e201 CNV Deletion 23290073
esv2678817 CNV Deletion 23128226
esv33046 CNV Loss 17666407
essv25036 CNV CNV 17122850
dgv20n67 CNV Gain 20364138
nsv821511 CNV Duplication 20802225
nsv829625 CNV Gain 20364138
esv29642 CNV Gain+Loss 19812545
dgv21e199 CNV Deletion 23128226
dgv31e1 CNV Complex 17122850
dgv32e1 CNV Complex 17122850
dgv33e1 CNV Complex 17122850
nsv834203 CNV Loss 17160897
essv17368 CNV CNV 17122850
nsv499577 OTHER Inversion 21111241
nsv7173 OTHER Inversion 18451855
nsv3632 CNV Insertion 18451855
nsv834247 CNV Gain+Loss 17160897
nsv221 CNV Insertion 15895083
nsv471343 CNV Duplication 19718026
nsv471344 CNV Duplication 19718026
nsv482190 CNV Gain 20164927
nsv514916 CNV Complex 21397061
nsv435932 CNV Insertion 17901297
nsv159149 CNV Loss 16902084
nsv436039 CNV Insertion 17901297
esv34697 CNV Gain 17911159
nsv3743 CNV Loss 18451855
dgv1n16 CNV Deletion 17901297
nsv160674 CNV Loss 16902084
esv2744463 CNV Deletion 23290073
dgv34e1 CNV Complex 17122850
esv2597795 CNV Gain 19546169
dgv35e1 CNV Complex 17122850
dgv36e1 CNV Complex 17122850
nsv469795 CNV Complex 16826518
nsv471655 CNV Gain+Loss 15918152
essv11467 CNV CNV 17122850

Relevant External Links for NBPF1 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NBPF1 Gene

Disorders for NBPF1 Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for NBPF1 Gene in MalaCards »

(3) Diseases for NBPF1 Gene including...

genes like me logo Genes that share disorders with NBPF1: view

No data available for OMIM , UniProtKB/Swiss-Prot , University of Copenhagen DISEASES , Novoseek inferred disease relationships , Genatlas and External Links for NBPF1 Gene

Publications for NBPF1 Gene

  1. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11214970) Nagase T. … Ohara O. (DNA Res. 2000) 2 3 4
  2. A novel gene family NBPF: intricate structure generated by gene duplications during primate evolution. (PMID: 16079250) Vandepoele K. … van Roy F. (Mol. Biol. Evol. 2005) 2 3 4
  3. Chibby interacts with NBPF1 and clusterin, two candidate tumor suppressors linked to neuroblastoma. (PMID: 20096688) Vandepoele K. … van Roy F. (Exp. Cell Res. 2010) 3
  4. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PMID: 21906983) Kim W. … Gygi S.P. (Mol. Cell 2011) 3
  5. Evolutionary history and genome organization of DUF1220 protein domains. (PMID: 22973535) O'Bleness M.S. … Sikela J.M. (G3 (Bethesda) 2012) 3

Products for NBPF1 Gene

Sources for NBPF1 Gene

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