Tdark | Putative neuroblastoma breakpoint family member 8 |
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]
Comments
MVVSAGPWSSEKAEMNILEINEKLRPQLAENKQQFVNLKEMFSNSTGRLPGQPTEEIQQYKVLVHSQERE 1 - 70 LTQLKEKLREGRDASRSLNEHLQALLTLDEPDKSQGQDLQEQLAEGCRLAQHLVQKLSPENDEDEDEDVQ 71 - 140 VEEDEKVLESSAPREVQKAEESKVPEDSLEECAITCSNSHGPCDSIQPHKNIKITFEEDKVNSSLVVDRE 141 - 210 SSHDGCQDALNILPVPGPTSSATNVSMVVSAGPLSSEKAEMNILEINEKLCPQLAEKKQQFRSLKEKCFV 211 - 280 TQVACFLAKQQNKYKYEECKDLIKSMLRNERQFKEEKLAEQLKQAEELRQYKVLVHSQERELTQLREKLR 281 - 350 EGRDASRSLNEHLQALLTPDEPDKSQGQDLQEQLAEGCRLAQHLVQKLSPENDNDDDEDVQVEVAEKVQK 351 - 420 SSSPREMQKAEEKEVPEDSLEECAITCSNSHGPYDSNQPHRKTKITFEEDKVDSTLIGSSSHVEWEDAVH 421 - 490 IIPENESDDEEEEEKGPVSPRNLQESEEEEVPQESWDEGYSTLSIPPERLASYQSYSSTFHSLEEQQVCM 491 - 560 AVDIGRHRWDQVKKEDQEATGPRLSRELLDEKGPEVLQDSLDRCYSTPSGCLELTDSCQPYRSAFYILEQ 561 - 630 QRVGLAVDMDEIEKYQEVEEDQDPSCPRLSRELLDEKEPEVLQDSLDRCYSTPSGYLELPDLGQPYSSAV 631 - 700 YSLEEQYLGLALDVDRIKKDQEEEEDQGPPCPRLSRELLEVVEPEVLQDSLDRCYSTPSSCLEQPDSCQP 701 - 770 YGSSFYALEEKHVGFSLDVGEIEKKGKGKIGRGRRSKKKRRRGRKEGEEDQNPPCPRLNSVLMEVEEPEV 771 - 840 LQDSLDRCYSTPSMYCELRDSFQHYRSVF 841 - 869 //
PMID | Year | Title |
---|---|---|
22973535 | 2012 | Evolutionary history and genome organization of DUF1220 protein domains. |
22901949 | 2012 | DUF1220-domain copy number implicated in human brain-size pathology and evolution. |
16710414 | 2006 | The DNA sequence and biological annotation of human chromosome 1. |
16079250 | 2005 | A novel gene family NBPF: intricate structure generated by gene duplications during primate evolution. |
12477932 | 2002 | Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |