| Background: | 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. This gene family contains numerous pseudogenes.
Gregory S.G., Nature 441:315-321(2006).
Mei G., Submitted (FEB-1999) to the EMBL/GenBank/DDBJ databases. |
| Synonyms: | NBPFC; neuroblastoma breakpoint family; 12; |
| UniProt Protein Function: | NBPF12: Belongs to the NBPF family.Chromosomal Location of Human Ortholog: 1q21Cellular Component: cytoplasm |
| UniProt Protein Details: | |
| NCBI 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, 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. This gene family contains numerous pseudogenes. [provided by RefSeq, Apr 2013] |
| UniProt Code: | Q5TAG4 |
| NCBI GenInfo Identifier: | 152123241 |
| NCBI Gene ID: | 55672 |
| NCBI Accession: | Q5TAG4.2 |
| UniProt Secondary Accession: | Q5TAG4,Q6P3W6, Q5SXJ2, Q3BBV0, Q3BBW0, Q3B |
| UniProt Related Accession: | Q5TAG4,Q3BBV0 |
| Molecular Weight: | 31,307 Da |
| NCBI Full Name: | Neuroblastoma breakpoint family member 12 |
| NCBI Synonym Full Names: | neuroblastoma breakpoint family, member 1 |
| NCBI Official Symbol: | NBPF1Â Â |
| NCBI Official Synonym Symbols: | AD2; NBG; AB13; AB14; AB23; NBPFÂ Â |
| NCBI Protein Information: | neuroblastoma breakpoint family member 1 |
| UniProt Protein Name: | Neuroblastoma breakpoint family member 12 |
| UniProt Synonym Protein Names: | Chromosome 1 amplified sequence 1 |
| Protein Family: | Neuroblastoma breakpoint family |
| UniProt Gene Name: | NBPF12Â Â |
| UniProt Entry Name: | NBPFC_HUMAN |
