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Aliases for NBPF8 Gene

Aliases for NBPF8 Gene

  • Neuroblastoma Breakpoint Family, Member 8 2 3
  • Neuroblastoma Breakpoint Family, Member 8, Pseudogene 2 3
  • NBPF8P 3 4
  • Putative Neuroblastoma Breakpoint Family Member 8 3
  • Neuroblastoma Breakpoint Family Member 8 3

External Ids for NBPF8 Gene

Previous HGNC Symbols for NBPF8 Gene

  • NBPF8P

Previous GeneCards Identifiers for NBPF8 Gene

  • GC01U901189
  • GC01M144745
  • GC01P142861
  • GC01P143315
  • GC01P144147
  • GC01P144150
  • GC01P144154
  • GC01P144166
  • GC01P144172
  • GC01P144178

Summaries for NBPF8 Gene

Entrez Gene Summary for NBPF8 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 NBPF8 Gene

NBPF8 (Neuroblastoma Breakpoint Family, Member 8) is a Protein Coding gene. Diseases associated with NBPF8 include genital herpes and neuroblastoma. An important paralog of this gene is NBPF3.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NBPF8 Gene

Genomics for NBPF8 Gene

Genomic Location for NBPF8 Gene

Start:
120,417,194 bp from pter
End:
120,467,844 bp from pter
Size:
50,651 bases
Orientation:
Plus strand

Genomic View for NBPF8 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NBPF8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NBPF8 Gene

No data available for Regulatory Elements for NBPF8 Gene

Proteins for NBPF8 Gene

  • Protein details for NBPF8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q3BBV2-NBPF8_HUMAN
    Recommended name:
    Putative neuroblastoma breakpoint family member 8
    Protein Accession:
    Q3BBV2
    Secondary Accessions:

    Protein attributes for NBPF8 Gene

    Size:
    869 amino acids
    Molecular mass:
    99215 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 NBPF8 Gene

Proteomics data for NBPF8 Gene at MOPED

Post-translational modifications for NBPF8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NBPF8 Gene

No data available for DME Specific Peptides for NBPF8 Gene

Domains for NBPF8 Gene

Gene Families for NBPF8 Gene

HGNC:
  • NBPF :neuroblastoma breakpoint family

Protein Domains for NBPF8 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NBPF8 Gene

Graphical View of Domain Structure for InterPro Entry

Q3BBV2

UniProtKB/Swiss-Prot:

NBPF8_HUMAN :
  • Q3BBV2
Domain:
  • Contains 7 NBPF domains.
Family:
  • Belongs to the NBPF family.
genes like me logo Genes that share domains with NBPF8: view

Function for NBPF8 Gene

Animal Model Products

CRISPR 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 NBPF8 Gene

Localization for NBPF8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NBPF8 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NBPF8 Gene COMPARTMENTS Subcellular localization image for NBPF8 gene
Compartment Confidence
nucleus 3
cytosol 2

Gene Ontology (GO) - Cellular Components for NBPF8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with NBPF8: view

Pathways for NBPF8 Gene

SuperPathways for NBPF8 Gene

No Data Available

Interacting Proteins for NBPF8 Gene

Selected Interacting proteins: Q3BBV2-NBPF8_HUMAN for NBPF8 Gene via I2D

Symbol External ID(s) Details
ESR2

Gene Ontology (GO) - Biological Process for NBPF8 Gene

None

No data available for Pathways by source for NBPF8 Gene

Transcripts for NBPF8 Gene

mRNA/cDNA for NBPF8 Gene

(7) Additional mRNA sequences :
(2) REFSEQ mRNAs :
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for NBPF8 Gene

Neuroblastoma breakpoint family, member 8:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NBPF8

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

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NBPF8 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6
SP1:
SP2: - - - -
SP3:

Relevant External Links for NBPF8 Gene

GeneLoc Exon Structure for
NBPF8
ECgene alternative splicing isoforms for
NBPF8

Expression for NBPF8 Gene

mRNA expression in normal human tissues for NBPF8 Gene

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for NBPF8 Gene

SOURCE GeneReport for Unigene cluster for NBPF8 Gene Hs.534675

mRNA Expression by UniProt/SwissProt for NBPF8 Gene

Q3BBV2-NBPF8_HUMAN
Tissue specificity: Expressed in the mammary gland.
genes like me logo Genes that share expressions with NBPF8: 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 NBPF8 Gene

Orthologs for NBPF8 Gene

This gene was present in the common ancestor of mammals.

Orthologs for NBPF8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia -- 36
  • 98 (a)
ManyToMany
-- 36
  • 97 (a)
ManyToMany
-- 36
  • 78 (a)
ManyToMany
-- 36
  • 98 (a)
ManyToMany
-- 36
  • 83 (a)
ManyToMany
-- 36
  • 97 (a)
ManyToMany
-- 36
  • 87 (a)
ManyToMany
LOC458021 35
  • 90.11 (n)
  • 83.45 (a)
cow
(Bos Taurus)
Mammalia -- 36
  • 29 (a)
ManyToMany
-- 36
  • 33 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia -- 36
  • 37 (a)
OneToMany
Species with no ortholog for NBPF8:
  • 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 NBPF8 Gene

ENSEMBL:
Gene Tree for NBPF8 (if available)
TreeFam:
Gene Tree for NBPF8 (if available)

Paralogs for NBPF8 Gene

Paralogs for NBPF8 Gene

genes like me logo Genes that share paralogs with NBPF8: view

Variants for NBPF8 Gene

Sequence variations from dbSNP and Humsavar for NBPF8 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs320835 -- 120,461,587(+) GGAAG(A/C)CCAGA intron-variant
rs592617 -- 120,454,848(+) ttgct(A/G)ggacc intron-variant
rs603230 -- 120,462,107(+) GAGAA(A/C)CAGCT intron-variant
rs694264 -- 120,461,992(+) TATGG(A/T)GATCA intron-variant
rs711764 -- 120,466,294(-) CTGTA(C/G)TTTCA utr-variant-3-prime, nc-transcript-variant

Relevant External Links for NBPF8 Gene

HapMap Linkage Disequilibrium report
NBPF8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for NBPF8 Gene

Disorders for NBPF8 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (3) Diseases for NBPF8 Gene including...

Search for NBPF8 Gene in MalaCards »

(1) University of Copenhagen DISEASES for NBPF8 Gene

genes like me logo Genes that share disorders with NBPF8: view

No data available for UniProtKB/Swiss-Prot for NBPF8 Gene

Publications for NBPF8 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. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PMID: 21906983) Kim W. … Gygi S.P. (Mol. Cell 2011) 3
  3. DUF1220-domain copy number implicated in human brain-size pathology and evolution. (PMID: 22901949) Dumas L.J. … Sikela J.M. (Am. J. Hum. Genet. 2012) 3
  4. Evolutionary history and genome organization of DUF1220 protein domains. (PMID: 22973535) O'Bleness M.S. … Sikela J.M. (G3 (Bethesda) 2012) 3
  5. 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

Products for NBPF8 Gene

Sources for NBPF8 Gene

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