NBPF20

Also known as NBPF member 20

Neuroblastoma breakpoint family member 10 is a protein that in Homo sapiens is encoded by the NBPF10 gene.

Gene data

NBPF20

Name: NBPF member 20
Type: protein-coding

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, Mar 2014].

via MyGene.info

Wikidata facts

Show 5 more facts

HomoloGene ID: 41035
exact match: identifiers.org/ncbigene/100288142
genomic start: 145289900
cytogenetic location: 1q21.1
genomic end: 145405567

Sources (3)

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Article

5 sections

Contents

Homology
Functional role
Gene Neighborhood
Post-translational modification
References

Neuroblastoma breakpoint family member 10 is a protein that in Homo sapiens is encoded by the NBPF10 gene.

The full gene is 75,313 bp, with the major isoform of mRNA being 10,697 bp long. The gene is located at 1q21.1. NBPF contains what is known as the DUF1220 repeats. The highly conserved, repeated region is believed to be originated from MGC8902. The NBPF family has been linked to primate evolution. It is assumed to be related to the 1q21.1 deletion syndrome and 1q21.1 duplication syndrome.