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Relevance to Autism

The transcript for the MSN gene appears to be targeted by a noncoding RNA transcribed from a region of chromosome 5p14.1 that contains a genome-wide significant association with ASD with the SNP rs4307059; the noncoding RNA bound to MSN and could regulate levels of moesin protein in human cell lines (Kerin et al., 2012).

Molecular Function

Moesin (for membrane-organizing extension spike protein) is a member of the ERM family which includes ezrin and radixin. ERM proteins appear to function as cross-linkers between plasma membranes and actin-based cytoskeletons. Moesin is localized to filopodia and other membranous protrusions that are important for cell-cell recognition and signaling and for cell movement.

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References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
A noncoding RNA antisense to moesin at 5p14.1 in autism.
ASD
Support
The Autism-Related lncRNA MSNP1AS Regulates Moesin Protein to Influence the RhoA, Rac1, and PI3K/Akt Pathways and Regulate the Structure and Survival of Neurons
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN379R001 
 missense_variant 
 c.1038G>C 
 p.Glu346Asp 
 Familial 
 Maternal 
  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
X
Deletion
 1
 
X
Duplication
 1
 
X
Deletion
 1
 
X
Deletion-Duplication
 21
 
X
Deletion-Duplication
 8
 
X
Duplication
 2
 
X
Deletion
 2
 
X
Duplication
 1
 
X
Duplication
 2
 

No Animal Model Data Available


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
AHCY adenosylhomocysteinase 191 P23526 AP-MS
Kristensen AR , et al. 2012
ASNS asparagine synthetase (glutamine-hydrolyzing) 440 P08243 AP-MS
Kristensen AR , et al. 2012
ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase 471 P31939 AP-MS
Kristensen AR , et al. 2012
BRCA1 breast cancer 1, early onset 672 P38398 IP/WB; LC-MS/MS
Coene ED , et al. 2011
C19ORF21 Mitotic interactor and substrate of PLK1 126353 Q8IVT2 IP; LC-MS/MS
Huttlin EL , et al. 2015
CAPN2 calpain 2, (m/II) large subunit 824 B4DN77 AP-MS
Kristensen AR , et al. 2012
CD14 CD14 molecule 929 P08571 IP/WB
Zawawi KH , et al. 2010
CD44 CD44 molecule (Indian blood group) 960 P16070 IP/WB
Parra LM , et al. 2015
CD46 CD46 molecule, complement regulatory protein 4179 P15529 IP/WB
Schneider-Schaulies J , et al. 1995
CD81 CD81 molecule 975 P60033 LC-MS/MS; IP/WB
Perez-Hernandez D , et al. 2013
CDK11B cyclin-dependent kinase 11B 984 P21127 Y2H
Wang J , et al. 2011
CDK2 cyclin-dependent kinase 2 1017 P24941 LC-MS/MS
Neganova I , et al. 2011
DCPS decapping enzyme, scavenger 28960 Q96C86 AP-MS
Kristensen AR , et al. 2012
DHX15 DEAH (Asp-Glu-Ala-His) box polypeptide 15 1665 O43143 AP-MS
Kristensen AR , et al. 2012
ELAVL1 ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R) 1994 Q15717 qRT-PCR
Abdelmohsen K , et al. 2009
FH fumarate hydratase 2271 B1ANK7 AP-MS
Kristensen AR , et al. 2012
FMR1 fragile X mental retardation 1 2332 G8JLE9 PAR-CLIP
Ascano M Jr , et al. 2012
GINS3 GINS complex subunit 3 (Psf3 homolog) 64785 E9PB21 AP-MS
Kristensen AR , et al. 2012
GSS glutathione synthetase 2937 P48637 AP-MS
Kristensen AR , et al. 2012
GTF3C4 general transcription factor IIIC, polypeptide 4, 90kDa 9329 B3KNH2 LC-MS/MS
Havugimana PC , et al. 2012
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit 3030 E9KL44 LC-MS/MS
Havugimana PC , et al. 2012
HLA-B major histocompatibility complex, class I, B 3106 P01889 LC/ESI/MS/MS
Ewing RM , et al. 2007
HSPA5 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) 3309 Q2KHP4 AP-MS
Kristensen AR , et al. 2012
ICAM1 intercellular adhesion molecule 1 3383 P05362 LC-MS/MS
Perez-Hernandez D , et al. 2013
ICAM3 intercellular adhesion molecule 3 3385 P32942 IP/WB
Serrador JM , et al. 1997
IGSF8 immunoglobulin superfamily, member 8 93185 Q969P0 IP/WB
Sala-Valds M , et al. 2006
ISG15 ISG15 ubiquitin-like modifier 9636 P05161 IP/WB
Zhao C , et al. 2005
ITGA4 integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 3676 P13612 MS
Byron A , et al. 2012
LY96 lymphocyte antigen 96 23643 Q9Y6Y9 IP/WB
Zawawi KH , et al. 2010
MAP3K14 mitogen-activated protein kinase kinase kinase 14 53859 Q9WUL6 in vitro kinase assay; GST; IP/WB
Baumgartner M , et al. 2006
MRPL12 mitochondrial ribosomal protein L12 6182 P52815 IP; LC-MS/MS
Huttlin EL , et al. 2015
MSN moesin 4478 P26038 Co-crystal structure
Pearson MA , et al. 2000
NAE1 NEDD8 activating enzyme E1 subunit 1 8883 Q13564 AP-MS
Kristensen AR , et al. 2012
NSFL1C NSFL1 (p97) cofactor (p47) 55968 Q53FE8 AP-MS
Kristensen AR , et al. 2012
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) 5048 P43034 AP-MS
Kristensen AR , et al. 2012
PAFAH1B2 platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 (30kDa) 5049 P68402 AP-MS
Kristensen AR , et al. 2012
PAPSS1 3'-phosphoadenosine 5'-phosphosulfate synthase 1 9061 O43252 AP-MS
Kristensen AR , et al. 2012
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1 5160 P08559 AP-MS
Kristensen AR , et al. 2012
PDIA4 protein disulfide isomerase family A, member 4 9601 P13667 AP-MS
Kristensen AR , et al. 2012
PFAS phosphoribosylformylglycinamidine synthase 5198 O15067 AP-MS
Kristensen AR , et al. 2012
PKC Protein kinase C theta type 5588 Q04759 IP/WB
Pietromonaco SF , et al. 1998
PLEC plectin 5339 Q15149 IP/WB
Brown MJ , et al. 2001
PPM1A protein phosphatase 1A, magnesium dependent, alpha isoform 19042 P49443 in vitro phosphatase assay; IP/WB
Hishiya A , et al. 1999
PPM1B protein phosphatase 1B, magnesium dependent, beta isoform 19043 P36993 in vitro phosphatase assay; IP/WB
Hishiya A , et al. 1999
PPP1R12A protein phosphatase 1, regulatory subunit 12A 116670 Q10728 IP/WB; GST
Fukata Y , et al. 1998
PPP1R16B protein phosphatase 1, regulatory subunit 16B 26051 E9PFS8 GST; IP/WB
Csortos C , et al. 2008
PPP1R2 protein phosphatase 1, regulatory (inhibitor) subunit 2 5504 P41236 AP-MS
Kristensen AR , et al. 2012
PRKCQ protein kinase C, theta 85420 F1LM10 in vitro kinase assay
Pietromonaco SF , et al. 1998
PTMA prothymosin, alpha 5757 P06454 AP-MS
Kristensen AR , et al. 2012
RAP1GDS1 RAP1, GTP-GDP dissociation stimulator 1 5910 P52306 AP-MS
Kristensen AR , et al. 2012
RAPGEF3 Rap guanine nucleotide exchange factor (GEF) 3 10411 O95398 IP/WB
Gloerich M , et al. 2010
RBFOX1 RNA binding protein, fox-1 homolog (C. elegans) 1 54715 Q9NWB1 qRT-PCR; IP/WB; in situ hybridization; in silico target prediction
Fogel BL , et al. 2012
ROCK2 Rho-associated, coiled-coil containing protein kinase 2 9475 O75116 in vitro kinase assay
Giretti MS , et al. 2008
S100A16 S100 calcium binding protein A16 140576 Q96FQ6 LC-MS/MS
Havugimana PC , et al. 2012
SELPLG selectin P ligand 6404 Q14242 IP/WB
Snapp KR , et al. 2002
SIRT7 sirtuin 7 51547 Q9NRC8 LC-MS/MS
Tsai YC , et al. 2012
SLC9A3R1 solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1 9368 O14745 Y2H; IP/WB
Murthy A , et al. 1998
SPTAN1 spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) 6709 Q13813 IP/WB
Brown MJ , et al. 2001
SRCAP Snf2-related CREBBP activator protein 10847 Q6ZRS2 LC-MS/MS
Havugimana PC , et al. 2012
STK24 serine/threonine kinase 24 8428 Q9Y6E0 AP-MS
Kristensen AR , et al. 2012
TATDN1 TatD DNase domain containing 1 83940 Q6P1N9 AP-MS
Kristensen AR , et al. 2012
TERF1 telomeric repeat binding factor (NIMA-interacting) 1 7013 P54274 Y2H; GST; IP/WB
Lee OH , et al. 2010
TLR4 toll-like receptor 4 7099 O00206 IP/WB
Zawawi KH , et al. 2010
TSPAN33 tetraspanin 33 NM_178562 Q86UF1 IP; LC-MS/MS
Huttlin EL , et al. 2015
TUBB3 tubulin, beta 3 class III 10381 A8K854 AP-MS
Kristensen AR , et al. 2012
UBC ubiquitin C 7316 P63279 LC-MS/MS
Danielsen JM , et al. 2010
UBD ubiquitin D 10537 O15205 MS; IP/WB
Aichem A , et al. 2012
VCAM1 vascular cell adhesion molecule 1 7412 P19320 IP/WB
Barreiro O , et al. 2002
VCL vinculin 7414 B3KXA2 AP-MS
Kristensen AR , et al. 2012
VPU Protein Vpu 155945 P05923 MS
Jger S , et al. 2011
ARHGDIA 101838210 N/A IP/WB
Hirao M , et al. 1996
BAP31 B cell receptor associated protein 31 27061 Q61335 IP/WB
Mund T , et al. 2003
CD43 sialophorin 24796 P13838 GST
Yonemura S , et al. 1998
CD44 CD44 antigen 12505 P15379 GST
Yonemura S , et al. 1998
ICAM2 intercellular adhesion molecule 2 15896 P35330 GST
Yonemura S , et al. 1998
NCF1 neutrophil cytosolic factor 1 653361 P14598 MS; IP/WB
Wientjes FB , et al. 2001
NCF4 neutrophil cytosolic factor 4, 40kDa 4689 Q15080 MS; IP/WB
Wientjes FB , et al. 2001
ROCK1 Rho-associated coiled-coil containing protein kinase 1 19877 P70335 in vitro kinase assay; IP/WB
Oshiro N , et al. 1998
SELL selectin, lymphocyte 20343 P18337 IP/WB
Ivetic A , et al. 2001
SLC12A1 solute carrier family 12, member 1 20495 P55014 IP/WB
Carmosino M , et al. 2012
TSC1 tuberous sclerosis 1 64930 Q9EP53 Y2H; GST
Lamb RF , et al. 2000
CONU 3355133 Q8T0G4 IP/WB; Y2H
Neisch AL , et al. 2013
EHMT1 G9a 30971 Q95RU8 ChIP-Seq
Kramer JM , et al. 2011
Rab11 Rab-protein 11 42501 O18335 GST; IP/WB
Ramel D , et al. 2013
Sip1 SRY interacting protein 1 44155 Q7K5M6 IP/WB
Hughes SC , et al. 2010
Slik Sterile20-like kinase 37893 Q8MLP1 IP/WB
Hughes SC , et al. 2010
VCAN wengen 32849 Q9VWS4 IP/WB
Ruan W , et al. 2013
SLC9A1 solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1 24782 P26431 IP/WB
Wu KL , et al. 2004

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