NBPF12, COAS1, KIAA1245, Neuroblastoma breakpoint family member 12, Chromosome 1 amplified sequence 1, NBPF10, Neuroblastoma breakpoint family member 10, NBPF16, Neuroblastoma breakpoint family member 16, NBPF1, KIAA1693, Neuroblastoma brea
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, mental retardation, 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. Thismiscellaneous: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 10 NBPF domains.,similarity:Contains 2 NBPF domains.,similarity:Contains 3 NBPF domains.,similarity:Contains 6 NBPF domains.,similarity:Contains 7 NBPF domains.,similarity:Contains 8 NBPF domains.,tissue specificity:Expressed in a neuroblastoma cell line.,tissue specificity:Expressed in spinal cord.,tissue specificity:Expressed in spleen and fetal liver.,tissue specificity:Expressed in the mammary gland.,tissue specificity:Ubiquitously expressed with a higher expression observed in breast and liver. Also expressed in neuroblastoma cell line.,tissue specificity:Widely expressed. The only tissue which shows a weak expression is kidney.,
