Human Gene NBPF15 (ENST00000577412.5) Description and Page Index
  Description: Homo sapiens NBPF member 15 (NBPF15), transcript variant 1, mRNA. (from RefSeq NM_001170755)
RefSeq Summary (NM_001170755): 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, May 2013].
Gencode Transcript: ENST00000577412.5
Gencode Gene: ENSG00000266338.6
Transcript (Including UTRs)
   Position: hg38 chr1:144,421,386-144,456,809 Size: 35,424 Total Exon Count: 21 Strand: -
Coding Region
   Position: hg38 chr1:144,423,013-144,440,003 Size: 16,991 Coding Exon Count: 15 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsMicroarray ExpressionRNA Structure
Protein StructureOther SpeciesGO AnnotationsmRNA DescriptionsOther NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:144,421,386-144,456,809)mRNA (may differ from genome)Protein (670 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
HPRDLynxMGIneXtProtOMIMPubMed
Stanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: NBPFF_HUMAN
DESCRIPTION: RecName: Full=Neuroblastoma breakpoint family member 15;
SUBCELLULAR LOCATION: Cytoplasm (Probable).
TISSUE SPECIFICITY: Ubiquitously expressed with a higher expression observed in breast and liver. Also expressed in neuroblastoma cell line.
MISCELLANEOUS: Encoded by one of the numerous copies of NBPF genes clustered in the p36, p12 and q21 region of the chromosome 1.
SIMILARITY: Belongs to the NBPF family.
SIMILARITY: Contains 6 NBPF domains.

-  MalaCards Disease Associations
  MalaCards Gene Search: NBPF15
Diseases sorted by gene-association score: neuroblastoma (13)

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -359.101067-0.337 Picture PostScript Text
3' UTR -509.601627-0.313 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR010630 - NBPF_dom

Pfam Domains:
PF06758 - Repeat of unknown function (DUF1220)

ModBase Predicted Comparative 3D Structure on Q8N660
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
      
      
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Cellular Component:
GO:0005737 cytoplasm


-  Descriptions from all associated GenBank mRNAs
  BC023087 - Homo sapiens neuroblastoma breakpoint family, member 15, mRNA (cDNA clone MGC:8902 IMAGE:3918932), complete cds.
AK097180 - Homo sapiens cDNA FLJ39861 fis, clone SPLEN2015129.
AK126734 - Homo sapiens cDNA FLJ44780 fis, clone BRACE3036271.
JD248885 - Sequence 229909 from Patent EP1572962.
JD093596 - Sequence 74620 from Patent EP1572962.
JD345383 - Sequence 326407 from Patent EP1572962.
JD241596 - Sequence 222620 from Patent EP1572962.
JD050936 - Sequence 31960 from Patent EP1572962.
JD418896 - Sequence 399920 from Patent EP1572962.
JD161978 - Sequence 143002 from Patent EP1572962.
JD052833 - Sequence 33857 from Patent EP1572962.
JD036628 - Sequence 17652 from Patent EP1572962.
JD248850 - Sequence 229874 from Patent EP1572962.
JD436117 - Sequence 417141 from Patent EP1572962.
JD062423 - Sequence 43447 from Patent EP1572962.
JD343410 - Sequence 324434 from Patent EP1572962.
JD055884 - Sequence 36908 from Patent EP1572962.
JD055883 - Sequence 36907 from Patent EP1572962.
JD041857 - Sequence 22881 from Patent EP1572962.
DQ601814 - Homo sapiens piRNA piR-39880, complete sequence.
JD271370 - Sequence 252394 from Patent EP1572962.
AK290302 - Homo sapiens cDNA FLJ78393 complete cds.
AK290142 - Homo sapiens cDNA FLJ78392 complete cds.
AK299360 - Homo sapiens cDNA FLJ59046 complete cds.
JD557792 - Sequence 538816 from Patent EP1572962.
AY894566 - Homo sapiens clone IIIb5 NBPF15 mRNA, complete cds.
KJ900572 - Synthetic construct Homo sapiens clone ccsbBroadEn_09966 NBPF15 gene, encodes complete protein.
JD372775 - Sequence 353799 from Patent EP1572962.
AF380581 - Homo sapiens AG3 mRNA, partial cds.
AF379630 - Homo sapiens AE3 mRNA, partial cds.
AF380582 - Homo sapiens AG8 mRNA, partial cds.
JD040586 - Sequence 21610 from Patent EP1572962.
JD372774 - Sequence 353798 from Patent EP1572962.
JD372775 - Sequence 353799 from Patent EP1572962.
JD119189 - Sequence 100213 from Patent EP1572962.
JD032812 - Sequence 13836 from Patent EP1572962.
DQ578516 - Homo sapiens piRNA piR-46628, complete sequence.
JD148192 - Sequence 129216 from Patent EP1572962.
JD372774 - Sequence 353798 from Patent EP1572962.
JD119189 - Sequence 100213 from Patent EP1572962.
JD512069 - Sequence 493093 from Patent EP1572962.
CU692780 - Synthetic construct Homo sapiens gateway clone IMAGE:100019997 5' read NBPF15 mRNA.
JD095729 - Sequence 76753 from Patent EP1572962.
JD305695 - Sequence 286719 from Patent EP1572962.
JD499890 - Sequence 480914 from Patent EP1572962.
JD040019 - Sequence 21043 from Patent EP1572962.
JD037130 - Sequence 18154 from Patent EP1572962.
JD435105 - Sequence 416129 from Patent EP1572962.
DQ587808 - Homo sapiens piRNA piR-54920, complete sequence.
JD158534 - Sequence 139558 from Patent EP1572962.
DQ590925 - Homo sapiens piRNA piR-58037, complete sequence.
DQ596899 - Homo sapiens piRNA piR-34965, complete sequence.
DQ588285 - Homo sapiens piRNA piR-55397, complete sequence.
JD167375 - Sequence 148399 from Patent EP1572962.
DQ597376 - Homo sapiens piRNA piR-35442, complete sequence.
JD234699 - Sequence 215723 from Patent EP1572962.
JD234700 - Sequence 215724 from Patent EP1572962.
DQ595422 - Homo sapiens piRNA piR-61534, complete sequence.
JD048931 - Sequence 29955 from Patent EP1572962.
JD165155 - Sequence 146179 from Patent EP1572962.
DQ583423 - Homo sapiens piRNA piR-50535, complete sequence.
JD434611 - Sequence 415635 from Patent EP1572962.
JD269400 - Sequence 250424 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: NBPFF_HUMAN, NM_001170755, Q3BBV9, Q8IX77, Q8N660, uc057jyw.1
UCSC ID: uc057jyw.1
RefSeq Accession: NM_001170755
Protein: Q8N660 (aka NBPFF_HUMAN)
CCDS: CCDS72852.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.