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... See more...

Aliases for NBPF9 Gene

Aliases for NBPF9 Gene

  • NBPF Member 9 2 3 5
  • Neuroblastoma Breakpoint Family Member 9 3 4
  • Neuroblastoma Breakpoint Family, Member 9 2
  • 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, 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]

GeneCards Summary for NBPF9 Gene

NBPF9 (NBPF Member 9) is a Protein Coding gene. Diseases associated with NBPF9 include Neuroblastoma and Hemochromatosis, Type 2A. An important paralog of this gene is NBPF14.

Additional gene information for NBPF9 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NBPF9 Gene

Genomics for NBPF9 Gene

GeneHancer (GH) Regulatory Elements for NBPF9 Gene

Promoters and enhancers for NBPF9 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NBPF9 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NBPF9

Genomic Locations for NBPF9 Gene

Genomic Locations for NBPF9 Gene
chr1:149,054,027-149,103,561
(GRCh38/hg38)
Size:
49,535 bases
Orientation:
Minus strand
chr1:144,614,959-144,621,685
(GRCh37/hg19)
Size:
6,727 bases
Orientation:
Plus 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:
    P0DPF3-NBPF9_HUMAN
    Recommended name:
    Neuroblastoma breakpoint family member 9
    Protein Accession:
    P0DPF3
    Secondary Accessions:
    • A0A075B761
    • A0A087WVA0
    • A0A087WY26
    • Q3BBV1
    • Q3BBW0

    Protein attributes for NBPF9 Gene

    Size:
    1111 amino acids
    Molecular mass:
    127756 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.

    Alternative splice isoforms for NBPF9 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NBPF9 Gene

Post-translational modifications for NBPF9 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for NBPF9 Gene

Domains & Families for NBPF9 Gene

Gene Families for NBPF9 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for NBPF9 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NBPF9 Gene

GenScript: Design optimal peptide antigens:
  • Neuroblastoma breakpoint family member 9 (NBPF9_HUMAN)
  • Neuroblastoma breakpoint family, member 9 (Q5TB04_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P0DPF3

UniProtKB/Swiss-Prot:

NBPF9_HUMAN :
  • Belongs to the NBPF family.
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

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NBPF9

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NBPF9 gene
Compartment Confidence
extracellular 1
cytoskeleton 1
peroxisome 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NBPF9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with NBPF9: view

Pathways & Interactions for NBPF9 Gene

PathCards logo

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

Drugs & Compounds for NBPF9 Gene

No Compound Related Data Available

Transcripts for NBPF9 Gene

mRNA/cDNA for NBPF9 Gene

2 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NBPF9

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

No ASD Table

Relevant External Links for NBPF9 Gene

GeneLoc Exon Structure 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NBPF9

mRNA Expression by UniProt/SwissProt for NBPF9 Gene:

P0DPF3-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 , mRNA differential expression in normal tissues , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 30
  • 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

(17) SIMAP similar genes for NBPF9 Gene using alignment to 7 proteins:

  • NBPF9_HUMAN
  • F8W9A2_HUMAN
  • H0Y2X2_HUMAN
  • H0Y3C2_HUMAN
  • H7BZR4_HUMAN
  • L8E7E2_HUMAN
  • Q5TB04_HUMAN

Pseudogenes.org Pseudogenes for NBPF9 Gene

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

Variants for NBPF9 Gene

Additional dbSNP identifiers (rs#s) for NBPF9 Gene

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

Additional Variant Information for NBPF9 Gene

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

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP and Variation tolerance for NBPF9 Gene

Disorders for NBPF9 Gene

MalaCards: The human disease database

(4) MalaCards diseases for NBPF9 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
neuroblastoma
  • nb
hemochromatosis, type 2a
  • hfe2a
chromosome 1q21.1 deletion syndrome, 1.35-mb
  • chromosome 1q21.1 deletion syndrome
microcephaly
  • microcephalus
- elite association - COSMIC cancer census association via MalaCards
Search NBPF9 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for 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 (Molecular biology and evolution 2005) 2 3 4 54
  2. Why do cellular proteins linked to K63-polyubiquitin chains not associate with proteasomes? (PMID: 23314748) Nathan JA … Goldberg AL (The EMBO journal 2013) 3 54
  3. Evolutionary history and genome organization of DUF1220 protein domains. (PMID: 22973535) O'Bleness MS … Sikela JM (G3 (Bethesda, Md.) 2012) 3 54
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 4 54
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 54

Products for NBPF9 Gene

Sources for NBPF9 Gene