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
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.
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.
Pfam Domains: PF06758 - Repeat of unknown function (DUF1220)
ModBase Predicted Comparative 3D Structure on Q8N660
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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.
Gene Ontology (GO) Annotations with Structured Vocabulary