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Aliases for NBPF14 Gene

Aliases for NBPF14 Gene

  • Neuroblastoma Breakpoint Family, Member 14 2 3
  • DJ328E19.C1.1 3
  • NBPF 3
  • AE5 3

External Ids for NBPF14 Gene

Previous GeneCards Identifiers for NBPF14 Gene

  • GC01M145120
  • GC01M146470
  • GC01M148003

Summaries for NBPF14 Gene

Entrez Gene Summary for NBPF14 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, May 2013]

GeneCards Summary for NBPF14 Gene

NBPF14 (Neuroblastoma Breakpoint Family, Member 14) is a Protein Coding gene. Diseases associated with NBPF14 include neuroblastoma. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is NBPF10.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NBPF14 Gene

Genomics for NBPF14 Gene

Genomic Location for NBPF14 Gene

Chromosome:
1
Start:
148,531,385 bp from pter
End:
148,679,751 bp from pter
Size:
148,367 bases
Orientation:
Minus strand

Genomic View for NBPF14 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NBPF14 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NBPF14 Gene

No data available for Regulatory Elements for NBPF14 Gene

Proteins for NBPF14 Gene

  • Protein details for NBPF14 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5TI25-NBPFE_HUMAN
    Recommended name:
    Neuroblastoma breakpoint family member 14
    Protein Accession:
    Q5TI25
    Secondary Accessions:
    • Q5TI23
    • Q8IX76
    • Q9UJI9

    Protein attributes for NBPF14 Gene

    Size:
    921 amino acids
    Molecular mass:
    105853 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=CAI20179.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAI20180.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI20181.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI20182.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI20183.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI20184.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI20185.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI20186.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for NBPF14 Gene

Proteomics data for NBPF14 Gene at MOPED

Post-translational modifications for NBPF14 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for NBPF14 Gene

Domains & Families for NBPF14 Gene

Gene Families for NBPF14 Gene

Protein Domains for NBPF14 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NBPF14 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q5TI25

UniProtKB/Swiss-Prot:

NBPFE_HUMAN :
  • Contains 10 NBPF domains.
  • Belongs to the NBPF family.
Domain:
  • Contains 10 NBPF domains.
Family:
  • Belongs to the NBPF family.
genes like me logo Genes that share domains with NBPF14: view

Function for NBPF14 Gene

Gene Ontology (GO) - Molecular Function for NBPF14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding --
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with NBPF14: view

Phenotypes for NBPF14 Gene

genes like me logo Genes that share phenotypes with NBPF14: view

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NBPF14

In Situ Assay Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for NBPF14 Gene

Localization for NBPF14 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NBPF14 Gene

Cytoplasm.

Gene Ontology (GO) - Cellular Components for NBPF14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with NBPF14: view

No data available for Subcellular locations from COMPARTMENTS for NBPF14 Gene

Pathways & Interactions for NBPF14 Gene

SuperPathways for NBPF14 Gene

No Data Available

Interacting Proteins for NBPF14 Gene

Selected Interacting proteins: Q5TI25-NBPFE_HUMAN for NBPF14 Gene via I2D

Symbol External ID(s) Details
MYB

Gene Ontology (GO) - Biological Process for NBPF14 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for NBPF14 Gene

Drugs & Compounds for NBPF14 Gene

No Compound Related Data Available

Transcripts for NBPF14 Gene

mRNA/cDNA for NBPF14 Gene

Unigene Clusters for NBPF14 Gene

Neuroblastoma breakpoint family, member 14:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NBPF14

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NBPF14 Gene

No ASD Table

Relevant External Links for NBPF14 Gene

GeneLoc Exon Structure for
NBPF14
ECgene alternative splicing isoforms for
NBPF14

Expression for NBPF14 Gene

mRNA expression in normal human tissues for NBPF14 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NBPF14 Gene



SOURCE GeneReport for Unigene cluster for NBPF14 Gene Hs.732082

mRNA Expression by UniProt/SwissProt for NBPF14 Gene

Q5TI25-NBPFE_HUMAN
Tissue specificity: Expressed in spleen and fetal liver.
genes like me logo Genes that share expression patterns with NBPF14: view

Protein tissue co-expression partners for NBPF14 Gene

- Elite partner

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

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and Protein differential expression in normal tissues for NBPF14 Gene

Orthologs for NBPF14 Gene

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

Orthologs for NBPF14 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LOC458021 35
  • 85.35 (n)
  • 76.51 (a)
Species with no ortholog for NBPF14:
  • 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 NBPF14 Gene

ENSEMBL:
Gene Tree for NBPF14 (if available)
TreeFam:
Gene Tree for NBPF14 (if available)

Paralogs for NBPF14 Gene

Paralogs for NBPF14 Gene

(17) SIMAP similar genes for NBPF14 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with NBPF14: view

Variants for NBPF14 Gene

Sequence variations from dbSNP and Humsavar for NBPF14 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs320831 -- 148,580,727(-) tgatg(A/G)gtttc intron-variant
rs4068064 -- 148,588,135(-) cagtt(A/T)cctca intron-variant
rs4116933 -- 148,584,340(-) AAAAA(C/G)TCCCT intron-variant
rs4285656 -- 148,588,339(-) ataat(A/G)ataaa intron-variant
rs4294466 -- 148,593,463(+) TATTT(G/T)TGTGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NBPF14 Gene

Variant ID Type Subtype PubMed ID
nsv7181 OTHER Inversion 18451855
dgv116e1 CNV Complex 17122850
dgv117e1 CNV Complex 17122850
esv2750803 CNV Gain 17911159
nsv428235 CNV Gain 18775914
dgv118e1 CNV Complex 17122850
dgv119e1 CNV Complex 17122850
dgv120e1 CNV Complex 17122850
dgv7e55 CNV Loss 17911159
esv2750807 CNV Gain 17911159
dgv357n71 CNV Gain 21882294
esv2717607 CNV Deletion 23290073
dgv358n71 CNV Gain 21882294
esv23584 CNV Gain 19812545
nsv8225 CNV Gain 18304495
nsv872281 CNV Gain+Loss 21882294
dgv121e1 CNV Complex 17122850
dgv359n71 CNV Loss 21882294
nsv872286 CNV Loss 21882294
nsv2755 CNV Insertion 18451855
dgv122e1 CNV Complex 17122850
nsv35 CNV Insertion 15895083
nsv872291 CNV Gain 21882294

Relevant External Links for NBPF14 Gene

HapMap Linkage Disequilibrium report
NBPF14

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for NBPF14 Gene

Disorders for NBPF14 Gene

MalaCards: The human disease database

(1) MalaCards diseases for NBPF14 Gene - From: GeneCards

Disorder Aliases PubMed IDs
neuroblastoma
  • neuroblastoma 1
- elite association

Relevant External Links for NBPF14

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NBPF14
genes like me logo Genes that share disorders with NBPF14: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NBPF14 Gene

Publications for NBPF14 Gene

  1. Human anterior lens capsule as carrier matrix for cultivated human corneal endothelial cells. (PMID: 19411960) Yoeruek E. … Szurman P. (Cornea 2009) 23 67
  2. [Experimental investigation of pEGFP-bFGF gene transfer to human limbal stem cells]. (PMID: 19334574) Xia L. … Xu M. (Sheng Wu Yi Xue Gong Cheng Xue Za Zhi 2009) 23 67
  3. Ribosomal proteins promote leaf adaxial identity. (PMID: 18305007) Yao Y. … Huang H. (Development 2008) 23 67
  4. Safety profile of bevacizumab on cultured human corneal cells. (PMID: 17721300) Yoeruek E. … Szurman P. (Cornea 2007) 23 67
  5. 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 67

Products for NBPF14 Gene

Sources for NBPF14 Gene

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