Description: Homo sapiens neuroblastoma breakpoint family, member 14 (NBPF20), mRNA. RefSeq Summary (NM_015383): 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]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Transcript (Including UTRs) Position: hg19 chr1:148,276,556-148,279,343 Size: 2,788 Total Exon Count: 4 Strand: -
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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
Descriptions from all associated GenBank mRNAs
AF379636 - Homo sapiens AG11 mRNA, partial cds. AF379633 - Homo sapiens AG6 mRNA, partial cds. JD077036 - Sequence 58060 from Patent EP1572962. AF379619 - Homo sapiens AB13 precursor RNA, partial cds. AF379620 - Homo sapiens AB14 precursor RNA, partial cds. AF420437 - Homo sapiens AB14 precursor RNA, partial cds. AF380582 - Homo sapiens AG8 mRNA, partial cds. JD040586 - Sequence 21610 from Patent EP1572962. JD372775 - Sequence 353799 from Patent EP1572962.