Property Summary

NCBI Gene PubMed Count 17
PubMed Score 11.03
PubTator Score 51.34

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
Multiple myeloma 1.634 1.4e-04
glioblastoma 1.300 5.1e-04
tuberculosis 1.100 6.3e-07
atypical teratoid/rhabdoid tumor 1.100 1.8e-08
ovarian cancer 2.000 1.5e-05

 GO Function (1)

Gene RIF (3)

PMID Text
21205478 HBV X gene enhanced SPG21 gene promoter activity, SPG21 mRNA expression and SPG21 protein production in HepG2 cells in a dose-dependent manner.
19184135 Data report that maspardin localizes prominently to cytoplasm as well as to membranes, possibly at trans-Golgi network/late endosomal compartments, and that maspardin interacts with the aldehyde dehydrogenase ALDH16A1.
14564668 frameshift results in the premature termination of the encoded product, which is designated "maspardin" (Mast syndrome, spastic paraplegia, autosomal recessive with dementia)

AA Sequence

MGEIKVSPDYNWFRGTVPLKKIIVDDDDSKIWSLYDAGPRSIRCPLIFLPPVSGTADVFFRQILALTGWG      1 - 70
YRVIALQYPVYWDHLEFCDGFRKLLDHLQLDKVHLFGASLGGFLAQKFAEYTHKSPRVHSLILCNSFSDT     71 - 140
SIFNQTWTANSFWLMPAFMLKKIVLGNFSSGPVDPMMADAIDFMVDRLESLGQSELASRLTLNCQNSYVE    141 - 210
PHKIRDIPVTIMDVFDQSALSTEAKEEMYKLYPNARRAHLKTGGNFPYLCRSAEVNLYVQIHLLQFHGTK    211 - 280
YAAIDPSMVSAEELEVQKGSLGISQEEQ                                              281 - 308
//

Text Mined References (20)

PMID Year Title
25416956 2014 A proteome-scale map of the human interactome network.
22458338 2012 Host-pathogen interactome mapping for HTLV-1 and -2 retroviruses.
21516116 2011 Next-generation sequencing to generate interactome datasets.
21269460 2011 Initial characterization of the human central proteome.
21205478 2010 [Effect of hepatitis B virus X gene on the expression of spastic paraplegia 21].
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
19184135 2009 Interaction of the SPG21 protein ACP33/maspardin with the aldehyde dehydrogenase ALDH16A1.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
16572171 2006 Analysis of the DNA sequence and duplication history of human chromosome 15.
16189514 2005 Towards a proteome-scale map of the human protein-protein interaction network.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15342556 2004 Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14564668 2003 Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11113139 2001 Cloning of ACP33 as a novel intracellular ligand of CD4.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.
6024251 1967 The mast syndrome. A recessively inherited form of presenile dementia with motor disturbances.