NBPF1, Official Symbol NBPF1provided by HGNC Official Full Name NBPF member 1provided by HGNC Primary source HGNC:HGNC:26088 See related Ensembl:ENSG00000219481 MIM:610501; AllianceGenome:HGNC:26088 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AD2; NBG; AB13; AB14; AB23; NBPF Summary 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, Apr 2013] Annotation information Annotation category: partial on reference assembly Expression Ubiquitous expression in testis (RPKM 28.4), ovary (RPKM 16.7) and 25 other tissues See more Orthologs all