Description: Homo sapiens neuroblastoma breakpoint family, member 3 (NBPF3), transcript variant 4, non-coding RNA. RefSeq Summary (NR_046176): 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, 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, Feb 2013]. Transcript (Including UTRs) Position: hg19 chr1:21,766,583-21,811,393 Size: 44,811 Total Exon Count: 18 Strand: + Coding Region Position: hg19 chr1:21,795,216-21,809,879 Size: 14,664 Coding Exon Count: 13
ID:NBPF3_HUMAN DESCRIPTION: RecName: Full=Neuroblastoma breakpoint family member 3; AltName: Full=Protein AE2; AltName: Full=Protein SHIIIa4; SUBCELLULAR LOCATION: Cytoplasm (Probable). TISSUE SPECIFICITY: Expressed in testis and fetal heart, as well as in non small cell lung carcinoma and 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 5 NBPF domains. SEQUENCE CAUTION: Sequence=AAH24011.1; Type=Frameshift; Positions=252; Sequence=CAH72077.1; Type=Erroneous gene model prediction; Sequence=CAH72078.1; Type=Erroneous gene model prediction;
Alkaline Phosphatase Xin Yuan et al. American journal of human genetics 2008, Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes., American journal of human genetics.
[PubMed 18940312]
Alkaline Phosphatase John C Chambers et al. Nature genetics 2011, Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma., Nature genetics.
[PubMed 22001757]
Metabolism Karsten Suhre et al. Nature 2011, Human metabolic individuality in biomedical and pharmaceutical research., Nature.
[PubMed 21886157]
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 Q9H094
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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.
Mouse
Rat
Zebrafish
D. melanogaster
C. elegans
S. cerevisiae
No ortholog
No ortholog
No ortholog
No ortholog
No ortholog
No ortholog
Gene Ontology (GO) Annotations with Structured Vocabulary
US Server
