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Aliases for NBPF3 Gene

Aliases for NBPF3 Gene

  • Neuroblastoma Breakpoint Family, Member 3 2 3
  • Protein SHIIIa4 3 4
  • Neuroblastoma Breakpoint Family Member 3 3
  • Protein AE2 4
  • AE2 3

External Ids for NBPF3 Gene

Previous GeneCards Identifiers for NBPF3 Gene

  • GC01P021512
  • GC01P021639
  • GC01P021766
  • GC01P020010

Summaries for NBPF3 Gene

Entrez Gene Summary for NBPF3 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. DUF1220 copy number variations in 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, Feb 2013]

GeneCards Summary for NBPF3 Gene

NBPF3 (Neuroblastoma Breakpoint Family, Member 3) is a Protein Coding gene. Diseases associated with NBPF3 include neuroblastoma and schizophrenia. An important paralog of this gene is NBPF4.

Gene Wiki entry for NBPF3 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NBPF3 Gene

Genomics for NBPF3 Gene

Regulatory Elements for NBPF3 Gene

Genomic Location for NBPF3 Gene

Start:
21,440,090 bp from pter
End:
21,485,005 bp from pter
Size:
44,916 bases
Orientation:
Plus strand

Genomic View for NBPF3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NBPF3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NBPF3 Gene

Proteins for NBPF3 Gene

  • Protein details for NBPF3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H094-NBPF3_HUMAN
    Recommended name:
    Neuroblastoma breakpoint family member 3
    Protein Accession:
    Q9H094
    Secondary Accessions:
    • A8K965
    • B4DSP2
    • I3L0I8
    • Q3BBW1
    • Q5VTG2
    • Q5VTG3
    • Q5VTG4
    • Q8IX78
    • Q8ND86
    • Q8TC96

    Protein attributes for NBPF3 Gene

    Size:
    633 amino acids
    Molecular mass:
    72951 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
    SequenceCaution:
    • Sequence=AAH24011.1; Type=Frameshift; Positions=252; Evidence={ECO:0000305}; Sequence=CAH72077.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAH72078.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for NBPF3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NBPF3 Gene

Proteomics data for NBPF3 Gene at MOPED

Post-translational modifications for NBPF3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for NBPF3 Gene

Domains for NBPF3 Gene

Gene Families for NBPF3 Gene

HGNC:
  • NBPF :neuroblastoma breakpoint family

Protein Domains for NBPF3 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NBPF3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H094

UniProtKB/Swiss-Prot:

NBPF3_HUMAN :
  • Q9H094
Domain:
  • Contains 5 NBPF domains.
Family:
  • Belongs to the NBPF family.
genes like me logo Genes that share domains with NBPF3: view

Function for NBPF3 Gene

Phenotypes for NBPF3 Gene

GenomeRNAi human phenotypes for NBPF3:
genes like me logo Genes that share phenotypes with NBPF3: view

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for NBPF3 Gene

Localization for NBPF3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NBPF3 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NBPF3 Gene COMPARTMENTS Subcellular localization image for NBPF3 gene
Compartment Confidence
cytosol 2
nucleus 2
extracellular 1

Gene Ontology (GO) - Cellular Components for NBPF3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with NBPF3: view

Pathways for NBPF3 Gene

SuperPathways for NBPF3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for NBPF3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:1903955 positive regulation of protein targeting to mitochondrion IMP 24270810
genes like me logo Genes that share ontologies with NBPF3: view

No data available for Pathways by source for NBPF3 Gene

Transcripts for NBPF3 Gene

Unigene Clusters for NBPF3 Gene

Neuroblastoma breakpoint family, member 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NBPF3 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b · 2c ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b · 9c ^ 10a · 10b ^ 11a · 11b ^
SP1: - - - - -
SP2: - -
SP3:
SP4: - -
SP5: - -
SP6: - - - - - - - - - - -
SP7: - - - - - - - - - - - - - -
SP8: - - - - - -
SP9: - - - - - - - - -
SP10: - - - - - - - - - - -
SP11: - -
SP12:
SP13:
SP14: - - - - - - - - -
SP15:

ExUns: 12 ^ 13a · 13b · 13c ^ 14 ^ 15
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:

Relevant External Links for NBPF3 Gene

GeneLoc Exon Structure for
NBPF3
ECgene alternative splicing isoforms for
NBPF3

Expression for NBPF3 Gene

mRNA expression in normal human tissues for NBPF3 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for NBPF3 Gene

SOURCE GeneReport for Unigene cluster for NBPF3 Gene Hs.325422

mRNA Expression by UniProt/SwissProt for NBPF3 Gene

Q9H094-NBPF3_HUMAN
Tissue specificity: Expressed in testis and fetal heart, as well as in non small cell lung carcinoma and neuroblastoma cell line.
genes like me logo Genes that share expressions with NBPF3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for NBPF3 Gene

Orthologs for NBPF3 Gene

This gene was present in the common ancestor of mammals.

Orthologs for NBPF3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NBPF3 35
  • 98.63 (n)
  • 96.68 (a)
NBPF3 36
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 36
  • 28 (a)
ManyToMany
-- 36
  • 30 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia -- 36
  • 33 (a)
OneToMany
Species with no ortholog for NBPF3:
  • 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 NBPF3 Gene

ENSEMBL:
Gene Tree for NBPF3 (if available)
TreeFam:
Gene Tree for NBPF3 (if available)

Paralogs for NBPF3 Gene

Paralogs for NBPF3 Gene

Selected SIMAP similar genes for NBPF3 Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for NBPF3 Gene

genes like me logo Genes that share paralogs with NBPF3: view

Variants for NBPF3 Gene

Sequence variations from dbSNP and Humsavar for NBPF3 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs369622 -- 21,466,667(+) TCCTG(C/G)AAAAT intron-variant
rs374454 -- 21,463,732(-) ttata(C/T)actct intron-variant
rs1001260 -- 21,467,151(+) AAGCC(A/G)TTGAT intron-variant, nc-transcript-variant
rs1001261 -- 21,467,242(+) CCAGT(C/G)CTCCT intron-variant, nc-transcript-variant, utr-variant-5-prime
rs1051563 -- 21,466,348(+) AGAAA(A/C/T)ATATT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NBPF3 Gene

Variant ID Type Subtype PubMed ID
nsv870456 CNV Gain 21882294
esv34155 CNV Loss 18971310
esv26055 CNV Gain 19812545
nsv820559 CNV Duplication 20802225
dgv42e1 CNV Complex 17122850
nsv428432 CNV Gain 18775914
nsv9435 CNV Gain+Loss 18304495
esv7069 OTHER Inversion 19470904
esv2745042 CNV Deletion 23290073
esv989724 CNV Deletion 20482838
esv2456631 CNV Deletion 19546169
esv1311289 CNV Deletion 17803354
esv2745053 CNV Deletion 23290073
esv2195718 CNV Deletion 18987734
esv2745064 CNV Deletion 23290073
esv1213372 CNV Deletion 17803354
nsv160214 CNV Loss 16902084
esv2661318 CNV Deletion 23128226

Relevant External Links for NBPF3 Gene

HapMap Linkage Disequilibrium report
NBPF3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NBPF3 Gene

Disorders for NBPF3 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (2) Diseases for NBPF3 Gene including...

Search for NBPF3 Gene in MalaCards »

Relevant External Links for NBPF3

Genetic Association Database (GAD)
NBPF3
genes like me logo Genes that share disorders with NBPF3: view

No data available for UniProtKB/Swiss-Prot for NBPF3 Gene

Publications for NBPF3 Gene

  1. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S. … Poustka A. (Genome Res. 2001) 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. Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. (PMID: 22001757) Chambers J.C. … Kooner J.S. (Nat. Genet. 2011) 3 48
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. Suppression subtractive hybridization and expression profiling identifies a unique set of genes overexpressed in non-small-cell lung cancer. (PMID: 15334068) Petroziello J. … Carter P. (Oncogene 2004) 3 4

Products for NBPF3 Gene

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat
  • QIAGEN qRT-PCR Assays for microRNAs that regulate NBPF3
    • 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
    • Predesigned siRNA for gene silencing in human,mouse,rat for NBPF3
    • Block miRNA regulation of NBPF3 using miScript Target Protectors

    Sources for NBPF3 Gene

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