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Aliases for NBPF9 Gene

Aliases for NBPF9 Gene

  • 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 congenital heart disease and neuroblastoma. An important paralog of this gene is NBPF15.

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

Genomic Location for NBPF9 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NBPF9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NBPF9 Gene

No data available for Regulatory Elements 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
    Secondary Accessions:

    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

Proteomics data for NBPF9 Gene at MOPED

Post-translational modifications for NBPF9 Gene

No Post-translational modifications

No data available for DME Specific Peptides for NBPF9 Gene

Domains for NBPF9 Gene

Gene Families for NBPF9 Gene

HGNC:
  • NBPF :neuroblastoma breakpoint family

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 :
  • Q3BBW0
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

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NBPF9

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 NBPF9 Gene

Localization for NBPF9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NBPF9 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NBPF9 Gene COMPARTMENTS Subcellular localization image for NBPF9 gene
Compartment Confidence
nucleus 3
cytosol 2

No data available for Gene Ontology (GO) - Cellular Components for NBPF9 Gene

Pathways 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 for NBPF9 Gene

Transcripts for NBPF9 Gene

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NBPF9

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for NBPF9
  • 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 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 for NBPF9 Gene

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for NBPF9 Gene

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 expressions with NBPF9: view

In Situ Assay 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 35
  • 90.4 (n)
  • 83.79 (a)
Species with no ortholog for NBPF9:
  • 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

Paralogs 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 MAF
rs470312 -- 149,061,510(-) AAGTA(C/T)ATCTG intron-variant
rs498521 -- 149,077,836(-) ATGAA(A/G)ATGTC intron-variant
rs544642 -- 149,054,127(-) GACTT(C/T)TGGAT utr-variant-3-prime, downstream-variant-500B
rs597581 -- 149,056,036(-) AATAA(A/T)TTTTT intron-variant
rs604122 -- 149,056,173(-) CCTTT(G/T)ACTCC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv428212 CNV Gain 18775914
nsv872203 CNV Gain 21882294
dgv103e1 CNV Complex 17122850
dgv104e1 CNV Complex 17122850
nsv7181 OTHER Inversion 18451855
nsv831303 CNV Loss 17160897
esv24514 CNV Gain 19812545
nsv436028 CNV Insertion 17901297
nsv436765 CNV Insertion 17901297
esv2717206 CNV Deletion 23290073
esv23047 CNV Gain 19812545
esv999428 CNV Loss 20482838
esv23161 CNV Gain 19812545
nsv831315 CNV Loss 17160897
nsv8047 CNV Gain 18304495
dgv66e199 CNV Deletion 23128226
nsv872211 CNV Gain 21882294

Relevant External Links for NBPF9 Gene

HapMap Linkage Disequilibrium report
NBPF9

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

Disorders for NBPF9 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (3) Diseases for NBPF9 Gene including...

Search for NBPF9 Gene in MalaCards »
genes like me logo Genes that share disorders with NBPF9: view

No data available for UniProtKB/Swiss-Prot 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
  2. Evolutionary history and genome organization of DUF1220 protein domains. (PMID: 22973535) O'Bleness M.S. … Sikela J.M. (G3 (Bethesda) 2012) 3
  3. 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
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3

Products for NBPF9 Gene

Sources for NBPF9 Gene

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