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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

Property Summary

NCBI Gene PubMed Count 4
PubMed Score 0.00

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession Q3BBV2
Symbols NBPF8P

Gene

NBPF8

 GO Component (1)

 Compartment GO Term (0)

 UniProt Keyword (5)

AA Sequence 

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
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Text Mined References (5)

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.