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Relevance to Autism

A recurrent duplication overlapping the last four exons and 3'UTR region of the ANXA1 gene was found to have an overall prevalence of 11/3,643 (0.30%) in unrelated ASD patients but was not identified in 5,374 controls (P=4.64 x 10-5) (Correia et al., 2014).

Molecular Function

This gene encodes a calcium/phospholipid-binding protein which promotes membrane fusion and is involved in exocytosis, as well as regulates phospholipase A2 activity.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders.
ASD
Support
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN609R001 
 copy_number_gain 
  
  
 Familial 
 Maternal 
 Simplex 
 GEN609R002 
 copy_number_gain 
  
  
 Familial 
 Maternal 
 Unknown 
 GEN609R003 
 copy_number_gain 
  
  
 Familial 
 Paternal 
 Simplex 
 GEN609R004 
 copy_number_gain 
  
  
 Familial 
 Paternal 
 Unknown 
 GEN609R005 
 copy_number_gain 
  
  
 Familial 
 Maternal 
 Simplex 
 GEN609R006 
 copy_number_gain 
  
  
 Familial 
 Maternal 
 Simplex 
 GEN609R007 
 copy_number_gain 
  
  
 Familial 
 Maternal 
 Unknown 
 GEN609R008 
 copy_number_gain 
  
  
 Familial 
  
 Multiplex (monozygotic twins) 
 GEN609R009 
 copy_number_gain 
  
  
 Familial 
 Paternal 
 Multiplex 
 GEN609R010 
 copy_number_gain 
  
  
 Familial 
 Maternal 
 Multiplex 
 GEN609R011 
 copy_number_gain 
  
  
 Familial 
 Paternal 
 Multiplex 
 GEN609R012 
 missense_variant 
 c.535G>A 
 p.Ala179Thr 
 De novo 
  
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
9
Duplication
 1
 
9
Duplication
 1
 
9
Deletion
 2
 
9
Deletion
 4
 
9
Deletion
 2
 
9
Deletion
 4
 
9
Deletion
 1
 
9
Deletion
 1
 
9
Deletion
 1
 
9
Deletion-Duplication
 15
 
9
Deletion
 3
 
9
N/A
 2
 

No Animal Model Data Available





Download ANXA1's Cytoscape file

Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
ANXA4 Annexin A4 307 P09525 LC-MS/MS
Havugimana PC , et al. 2012
APBB1 Amyloid beta A4 precursor protein-binding family B member 1 322 O00213 Y2H
Vinayagam A , et al. 2011
ATF2 activating transcription factor 2 1386 P15336 MS
Lau E , et al. 2012
ATG4B autophagy related 4B, cysteine peptidase 23192 B3KVU2 LC-MS/MS
Behrends C , et al. 2010
ATP4A Potassium-transporting ATPase alpha chain 1 495 P20648 LC-MS/MS
Lapierre LA , et al. 2007
BAG3 BCL2-associated athanogene 3 9531 O95817 LC-MS/MS
Chen Y , et al. 2013
C14orf1 chromosome 14 open reading frame 1 11161 Q6FII3 Y2H
Vinayagam A , et al. 2011
C1orf123 UPF0587 protein C1orf123 54987 Q9NWV4 Y2H
Vinayagam A , et al. 2011
CCT7 chaperonin containing TCP1, subunit 7 (eta) 10574 Q99832 Y2H
Vinayagam A , et al. 2011
CD4 Keratin, type II cytoskeletal 8 920 P05787 ESI-MS/MS
Bernhard OK , et al. 2004
CDK2 cyclin-dependent kinase 2 1017 P24941 LC-MS/MS
Neganova I , et al. 2011
COPS6 COP9 constitutive photomorphogenic homolog subunit 6 (Arabidopsis) 10980 Q7L5N1 Y2H
Vinayagam A , et al. 2011
CSAD Cysteine sulfinic acid decarboxylase 51380 Q9Y600 Y2H
Vinayagam A , et al. 2011
CUL5 cullin 5 8065 Q93034 MS; AQUA
Bennett EJ , et al. 2010
DDX19B ATP-dependent RNA helicase DDX19B 11269 Q9UMR2-2 IP; LC-MS/MS
Huttlin EL , et al. 2015
DLG3 discs, large homolog 3 (Drosophila) 1741 Q92796 LC/ESI/MS/MS
Ewing RM , et al. 2007
FAF1 Fas (TNFRSF6) associated factor 1 11124 Q9UNN5 Y2H
Vinayagam A , et al. 2011
FN1 fibronectin 1 2335 P02751 LC-MS/MS
Humphries JD , et al. 2009
FRMD1 FERM domain-containing protein 1 79981 Q8N878 IP; LC-MS/MS
Huttlin EL , et al. 2015
GAPDH glyceraldehyde-3-phosphate dehydrogenase 2597 P04406 Y2H
Vinayagam A , et al. 2011
GNB2 guanine nucleotide binding protein (G protein), beta polypeptide 2 2783 P62879 IP; LC-MS/MS
Huttlin EL , et al. 2015
HECW2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 57520 Q9P2P5 IP; MS
Lu L , et al. 2013
HMGA1 high mobility group AT-hook 1 3159 P17096 GST; WB; Nano-LC-ESI-MS/MS
Sgarra R , et al. 2008
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma 8517 Q9Y6K9 IP/WB
Bist P , et al. 2011
ITGA4 integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 3676 P13612 LC-MS/MS
Byron A , et al. 2012
KIR2DS2 Killer cell immunoglobulin-like receptor 2DS2 100132285 P43631 IP; LC-MS/MS
Huttlin EL , et al. 2015
KLHL23 kelch-like family member 23 151230 Q8NBE8 Y2H
Vinayagam A , et al. 2011
KRT8 keratin 8 3856 P05787 MALDI-TOF; IP/WB
Croxtall JD , et al. 1998
LRIF1 ligand dependent nuclear receptor interacting factor 1 55791 Q5T3J3 Y2H
Vinayagam A , et al. 2011
MEIS2 Meis homeobox 2 4212 B7Z6F6 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
MGMT O-6-methylguanine-DNA methyltransferase 4255 P16455 MS/MS; IP/WB
Niture SK , et al. 2005
MLL4 lysine (K)-specific methyltransferase 2B 9757 Q9UMN6 Y2H
Vinayagam A , et al. 2011
OTUB1 OTU domain, ubiquitin aldehyde binding 1 55611 B3KUV5 Y2H
Vinayagam A , et al. 2011
PPM1B protein phosphatase, Mg2+/Mn2+ dependent, 1B 5495 O75688 LC/ESI/MS/MS
Ewing RM , et al. 2007
RELA v-rel reticuloendotheliosis viral oncogene homolog A (avian) 5970 Q04206 IP/WB
Bist P , et al. 2011
RIPK1 receptor (TNFRSF)-interacting serine-threonine kinase 1 8737 Q13546 IP/WB
Bist P , et al. 2011
RPA1 replication protein A1, 70kDa 6117 P27694 Y2H
Vinayagam A , et al. 2011
RPUSD3 RNA pseudouridylate synthase domain-containing protein 3 285367 Q6P087-2 IP; LC-MS/MS
Huttlin EL , et al. 2015
S100A11 Protein S100-A11 6282 P31949 GST
Mailliard WS , et al. 1996
SIRT7 sirtuin 7 51547 Q9NRC8 LC-MS/MS
Tsai YC , et al. 2012
SLX1B Structure-specific endonuclease subunit SLX1 79008 Q9BQ83 LC-MS/MS
Svendsen JM , et al. 2009
SUMO2 SMT3 suppressor of mif two 3 homolog 2 (S. cerevisiae) 6613 P61956 MS
Ouyang J , et al. 2009
UBC ubiquitin C 7316 P63279 LC-MS/MS
Danielsen JM , et al. 2010
UBD ubiquitin D 10537 O15205 LC-MS/MS
Leng L , et al. 2013
UBE2D1 ubiquitin-conjugating enzyme E2D 1 (UBC4/5 homolog, yeast) 7321 P51668 Y2H
Vinayagam A , et al. 2011
UBE3A ubiquitin protein ligase E3A 7337 Q05086 GST; IP/WB; MALDI-TOF; MS; Ubiquitination assay
GST; MS; IP/WB; MALDI-TOF; Ubiquitination assay
Shimoji T , et al. 2009
UCHL5 ubiquitin carboxyl-terminal hydrolase L5 51377 Q9Y5K5 MALDI-TOF/TOF
Fang Y , et al. 2011
UNC119 Protein unc-119 homolog A 9094 Q13432 Y2H
Vinayagam A , et al. 2011
USP25 ubiquitin specific peptidase 25 29761 Q9UHP3 LC-MS/MS
Sowa ME , et al. 2009
USPL1 ubiquitin specific peptidase like 1 10208 Q5W0Q7 LC-MS/MS
Sowa ME , et al. 2009
VCAM1 vascular cell adhesion molecule 1 7412 P19320 LC-MS/MS
Humphries JD , et al. 2009
XRCC6 X-ray repair complementing defective repair in Chinese hamster cells 6 2547 P12956 Y2H
Vinayagam A , et al. 2011
YWHAQ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide 10971 P27348 HPLC; MS/MS; GST; IP/WB
Meek SE , et al. 2004
SUMO1 Small ubiquitin-related modifier 1 22218 P63166 IP/WB
Hirata F , et al. 2010
UBE2I ubiquitin-conjugating enzyme E2I 22196 P63280 IP/WB
Hirata F , et al. 2010

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