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Aliases for NBPF9 Gene

Aliases for NBPF9 Gene

  • Neuroblastoma Breakpoint Family Member 9 2 3 5
  • Neuroblastoma Breakpoint Family, Member 9 2 3
  • AE01 3

External Ids for NBPF9 Gene

Previous GeneCards Identifiers for NBPF9 Gene

  • GC01P142302
  • GC01M016762
  • GC01P7I0164
  • GC01P144002
  • GC01M146619
  • GC01P144614

Summaries for NBPF9 Gene

Entrez Gene Summary for NBPF9 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 NBPF9 Gene

NBPF9 (Neuroblastoma Breakpoint Family Member 9) is a Protein Coding gene. Diseases associated with NBPF9 include Neuroblastoma. An important paralog of this gene is NBPF26.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NBPF9 Gene

Genomics for NBPF9 Gene

Regulatory Elements for NBPF9 Gene

Enhancers for NBPF9 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F148973 1.4 FANTOM5 Ensembl ENCODE 9.4 +127.8 127809 3.6 PKNOX1 TBL1XR1 JUN ASH2L RBBP5 BMI1 ZBTB40 RELA CREM MTA2 PDE4DIP NBPF9 LOC653513 PIR33316 ENSG00000254913
GH01F148941 0.8 Ensembl ENCODE 3.8 +160.7 160674 3.6 KLF17 SIN3A YBX1 FEZF1 ZNF366 SCRT2 FOS GATAD2B ZEB2 ZNF843 ENSG00000261716 NBPF9 RNU2-38P PIR31643
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around NBPF9 on UCSC Golden Path with GeneCards custom track

Promoters for NBPF9 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000285226 361 2001 HDGF SIN3A GLI4 ZNF2 GLIS2 KLF7 REST ZNF518A ZNF610 SMARCA4

Genomic Location for NBPF9 Gene

Chromosome:
1
Start:
149,054,027 bp from pter
End:
149,103,561 bp from pter
Size:
49,535 bases
Orientation:
Minus strand

Genomic View for NBPF9 Gene

Genes around NBPF9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NBPF9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NBPF9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NBPF9 Gene

Proteins for NBPF9 Gene

  • Protein details for NBPF9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q3BBW0-NBPF9_HUMAN
    Recommended name:
    Neuroblastoma breakpoint family member 9
    Protein Accession:
    Q3BBW0

    Protein attributes for NBPF9 Gene

    Size:
    867 amino acids
    Molecular mass:
    99594 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • 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 NBPF9 Gene

Post-translational modifications for NBPF9 Gene

No Post-translational modifications

No data available for DME Specific Peptides for NBPF9 Gene

Domains & Families for NBPF9 Gene

Gene Families for NBPF9 Gene

Protein Domains for NBPF9 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NBPF9 Gene

Graphical View of Domain Structure for InterPro Entry

Q3BBW0

UniProtKB/Swiss-Prot:

NBPF9_HUMAN :
  • Contains 6 NBPF domains.
  • Belongs to the NBPF family.
Domain:
  • Contains 6 NBPF domains.
Family:
  • Belongs to the NBPF family.
genes like me logo Genes that share domains with NBPF9: view

Function for NBPF9 Gene

Phenotypes for NBPF9 Gene

GenomeRNAi human phenotypes for NBPF9:
genes like me logo Genes that share phenotypes with NBPF9: view

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for NBPF9 Gene

Localization for NBPF9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NBPF9 Gene

Cytoplasm.

No data available for Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for NBPF9 Gene

Pathways & Interactions for NBPF9 Gene

SuperPathways for NBPF9 Gene

No Data Available

Interacting Proteins for NBPF9 Gene

Gene Ontology (GO) - Biological Process for NBPF9 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for NBPF9 Gene

Transcripts for NBPF9 Gene

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NBPF9 Gene

No ASD Table

Relevant External Links for NBPF9 Gene

GeneLoc Exon Structure for
NBPF9
ECgene alternative splicing isoforms for
NBPF9

Expression for NBPF9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NBPF9 Gene

Protein differential expression in normal tissues from HIPED for NBPF9 Gene

This gene is overexpressed in Brain (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NBPF9 Gene



Protein tissue co-expression partners for NBPF9 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NBPF9 Gene:

NBPF9

mRNA Expression by UniProt/SwissProt for NBPF9 Gene:

Q3BBW0-NBPF9_HUMAN
Tissue specificity: Expressed in a neuroblastoma cell line.
genes like me logo Genes that share expression patterns with NBPF9: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for NBPF9 Gene

Orthologs for NBPF9 Gene

This gene was present in the common ancestor of human and chimp.

Orthologs for NBPF9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LOC458021 34
  • 90.4 (n)
Species where no ortholog for NBPF9 was found in the sources mined by GeneCards:
  • 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)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • 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 NBPF9 Gene

ENSEMBL:
Gene Tree for NBPF9 (if available)
TreeFam:
Gene Tree for NBPF9 (if available)

Paralogs for NBPF9 Gene

Pseudogenes.org Pseudogenes for NBPF9 Gene

genes like me logo Genes that share paralogs with NBPF9: view

Variants for NBPF9 Gene

Sequence variations from dbSNP and Humsavar for NBPF9 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1043480 -- 149,055,601(+) GGCAC(C/G)TGAAG utr-variant-3-prime
rs111295005 -- 149,072,498(+) AAGAC(A/C)ACCTT intron-variant
rs111309514 -- 149,061,686(+) ATTTC(C/T)AGGAG intron-variant
rs111348851 -- 149,064,225(+) TCAAC(C/T)TTCAC intron-variant
rs111393524 -- 149,072,983(+) TGATC(C/T)GCTCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NBPF9 Gene

Variant ID Type Subtype PubMed ID
dgv16n82 CNV duplication 23825009
dgv175n106 CNV duplication 24896259
dgv177n106 CNV duplication 24896259
dgv66e199 CNV deletion 23128226
esv23161 CNV gain 19812545
esv24514 CNV gain 19812545
esv3329131 CNV duplication 20981092
esv3415664 CNV duplication 20981092
nsv1075390 CNV duplication 25765185
nsv1076336 CNV duplication 25765185
nsv1076337 CNV duplication 25765185
nsv1124587 CNV duplication 24896259
nsv1128621 CNV duplication 24896259
nsv1151867 CNV duplication 26484159
nsv1153254 CNV duplication 26484159
nsv8047 CNV gain 18304495
nsv831303 CNV loss 17160897
nsv831315 CNV loss 17160897
nsv946242 CNV duplication 23825009
nsv946244 CNV duplication 23825009
nsv946245 CNV duplication 23825009
nsv946744 CNV duplication 23825009
nsv946745 CNV duplication 23825009
nsv946747 CNV duplication 23825009
nsv946748 CNV duplication 23825009
nsv946749 CNV duplication 23825009
nsv946952 CNV duplication 23825009
nsv946953 CNV duplication 23825009
nsv946964 CNV duplication 23825009
nsv946967 CNV duplication 23825009
nsv950911 CNV duplication 24416366
nsv950944 CNV duplication 24416366
nsv951881 CNV duplication 24416366

Relevant External Links for NBPF9 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NBPF9

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for NBPF9 Gene

Disorders for NBPF9 Gene

MalaCards: The human disease database

(1) MalaCards diseases for NBPF9 Gene - From: GeneCards

Disorder Aliases PubMed IDs
neuroblastoma
  • neuroblastoma 1
- elite association - COSMIC cancer census association via MalaCards
Search NBPF9 in MalaCards View complete list of genes associated with diseases

Relevant External Links for NBPF9

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NBPF9
genes like me logo Genes that share disorders with NBPF9: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NBPF9 Gene

Publications for NBPF9 Gene

  1. 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 64
  2. Why do cellular proteins linked to K63-polyubiquitin chains not associate with proteasomes? (PMID: 23314748) Nathan J.A. … Goldberg A.L. (EMBO J. 2013) 3 64
  3. Evolutionary history and genome organization of DUF1220 protein domains. (PMID: 22973535) O'Bleness M.S. … Sikela J.M. (G3 (Bethesda) 2012) 3 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 64
  5. Lineage-specific gene duplication and loss in human and great ape evolution. (PMID: 15252450) Fortna A. … Sikela J.M. (PLoS Biol. 2004) 3 64

Products for NBPF9 Gene

Sources for NBPF9 Gene

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