NBPF20
Sign in to saveAlso 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
- Position
- 145,289,900–145,425,624 (−)
- Ensembl
- ENSG00000162825
- RefSeq RNA
- NM_001278267.1, NM_001397211.1, NR_189122.1, NR_189123.1, XM_047446015.1
- RefSeq protein
- NP_001265196.1, NP_001384140.1, XP_047301971.1
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].
Gene Ontology
Cellular component
via MyGene.info
Gene · Ensembl
NBPF member 20
- Symbol
- NBPF20
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 1:145,289,900-145,425,624
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 8 more facts
- HomoloGene ID
- 41035
- exact match
- identifiers.org/ncbigene/100288142
- found in taxon
- Homo sapiens
- genomic start
- 145289900
- chromosome
- human chromosome 1
- cytogenetic location
- 1q21.1
- genomic end
- 145405567
- expressed in
- gonad
Sources (3)
via Wikidata · CC0
~1 min read
Encyclopedic overview
5 sectionsContents
- 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.
Excerpted from Wikipedia’s “NBPF20” article, available under the CC BY-SA 4.0 licence.