Gene Page: ACTN1

Summary ?
GeneID87
SymbolACTN1
SynonymsBDPLT15
Descriptionactinin alpha 1
ReferenceMIM:102575|HGNC:HGNC:163|Ensembl:ENSG00000072110|HPRD:00020|Vega:OTTHUMG00000171386
Gene typeprotein-coding
Map location14q24|14q22-q24
Pascal p-value0.387
Sherlock p-value0.099
TADA p-value0.018
Fetal beta-1.662
DMG1 (# studies)
eGeneCerebellum
Myers' cis & trans
SupportSTRUCTURAL PLASTICITY
G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-CONSENSUS
G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-FULL
G2Cdb.human_BAYES-COLLINS-MOUSE-PSD-CONSENSUS
CompositeSet
Ascano FMRP targets

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
CV:PheWASPhenome-wide association studies (PheWAS)157 SNPs associated with schizophrenia 0
DMG:Nishioka_2013Genome-wide DNA methylation analysisThe authors investigated the methylation profiles of DNA in peripheral blood cells from 18 patients with first-episode schizophrenia (FESZ) and from 15 normal controls. 1
DNM:Fromer_2014Whole Exome Sequencing analysisThis study reported a WES study of 623 schizophrenia trios, reporting DNMs using genomic DNA.

Section I. Genetics and epigenetics annotation

@CV:PheWAS

SNP IDChromosomePositionAllelePFunctionGeneUp/Down Distance

@DNM table

GeneChromosomePositionRefAltTranscriptAA changeMutation typeSiftCG46TraitStudy
ACTN1chr1469352217TCNM_001102
NM_001130004
NM_001130005		p.437H>R
p.437H>R
p.437H>R		missense
missense
missense		SchizophreniaDNM:Fromer_2014

@Differentially methylated gene

ProbeChromosomePositionNearest geneP (dis)Beta (dis)FDR (dis)Study
cg213502831469445743ACTN1-0.0240.27DMG:Nishioka_2013

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs16827037chr3117203284ACTN1870.08trans

Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression during devlopment (BrainCloud)

Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.

Gene expression of temporal and spatial changes (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.

Top co-expressed genes in brain regions

Top 10 positively co-expressed genes
GenePearson's Correlation Spearman's Correlation
CDC2L50.870.90
ZBTB20.870.88
KLHL200.860.91
SART30.860.89
UBTF0.860.88
KIAA01740.860.88
RSPRY10.850.89
ZNF1460.850.88
CTR90.850.88
SMEK10.850.89
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
FXYD1-0.71-0.81
AF347015.31-0.70-0.80
MT-CO2-0.70-0.80
AF347015.33-0.68-0.77
AF347015.27-0.68-0.78
IFI27-0.68-0.77
C5orf53-0.67-0.71
AF347015.21-0.66-0.83
HIGD1B-0.66-0.78
MT-CYB-0.66-0.76

Section IV. Protein-protein interaction annotation

InteractorsAliases BOfficial full name BExperimentalSourcePubMed ID
ACTN1FLJ40884actinin, alpha 1-HPRD,BioGRID11470434 
CDH1Arc-1 | CD324 | CDHE | ECAD | LCAM | UVOcadherin 1, type 1, E-cadherin (epithelial)Affinity Capture-WesternBioGRID9535896 
CDK5R1CDK5P35 | CDK5R | MGC33831 | NCK5A | p23 | p25 | p35 | p35nck5acyclin-dependent kinase 5, regulatory subunit 1 (p35)Affinity Capture-Western
Reconstituted Complex
Two-hybrid		BioGRID12223541 
CDK5R2NCK5AI | P39 | p39nck5aicyclin-dependent kinase 5, regulatory subunit 2 (p39)-HPRD,BioGRID12223541 
COL17A1BA16H23.2 | BP180 | BPAG2 | FLJ60881 | KIAA0204 | LAD-1collagen, type XVII, alpha 1-HPRD,BioGRID11739652 
CSRP3CLP | CMD1M | CMH12 | CRP3 | LMO4 | MGC14488 | MGC61993 | MLPcysteine and glycine-rich protein 3 (cardiac LIM protein)-HPRD12642359 
CTNNA1CAP102 | FLJ36832catenin (cadherin-associated protein), alpha 1, 102kDa-HPRD,BioGRID7790378 
FBP1FBPfructose-1,6-bisphosphatase 1-HPRD,BioGRID12507293 
GIPC1C19orf3 | GIPC | GLUT1CBP | Hs.6454 | IIP-1 | MGC15889 | MGC3774 | NIP | RGS19IP1 | SEMCAP | SYNECTIIN | SYNECTIN | TIP-2GIPC PDZ domain containing family, member 1Affinity Capture-Western
Reconstituted Complex		BioGRID10198040 
GRIN2ANMDAR2A | NR2Aglutamate receptor, ionotropic, N-methyl D-aspartate 2A-HPRD11854440 
ITGB1CD29 | FNRB | GPIIA | MDF2 | MSK12 | VLA-BETA | VLABintegrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)Reconstituted ComplexBioGRID2116421 
MAGEA11MAGE-11 | MAGE11 | MAGEA-11 | MGC10511melanoma antigen family A, 11Two-hybridBioGRID16189514 
MYOTLGMD1 | LGMD1A | TTIDmyotilin-HPRD,BioGRID12499399 
MYOZ1CS-2 | FATZ | MYOZmyozenin 1-HPRD11842093 
MYOZ1CS-2 | FATZ | MYOZmyozenin 1Two-hybridBioGRID16189514 
MYOZ2C4orf5 | CS-1myozenin 2-HPRD11842093 
MYOZ3CS-3 | CS3 | FRP3myozenin 3-HPRD11842093 
NEBLFLJ53769 | LNEBL | MGC119746 | MGC119747 | bA56H7.1nebulette-HPRD10470015 
PDLIM1CLIM1 | CLP-36 | CLP36 | hCLIM1PDZ and LIM domain 1-HPRD,BioGRID11110697 
PDLIM1CLIM1 | CLP-36 | CLP36 | hCLIM1PDZ and LIM domain 1CLP-36 interacts with alpha-actinin 1. This interaction was modeled on a demonstrated interaction between human CLP-36 and chicken alpha-actinin 1.BIND10753915 
PHBPHB1prohibitinAffinity Capture-WesternBioGRID12628297 
PKN1DBK | MGC46204 | PAK1 | PKN | PKN-ALPHA | PRK1 | PRKCL1protein kinase N1-HPRD,BioGRID9030526 |11802708 
PYGBMGC9213phosphorylase, glycogen; brainReconstituted ComplexBioGRID12211109 
RAVER1KIAA1978ribonucleoprotein, PTB-binding 1-HPRD11724819 
SSX2IPADIP | FLJ10848 | KIAA0923 | MGC75026synovial sarcoma, X breakpoint 2 interacting protein-HPRD,BioGRID12446711 
TESDKFZp586B2022 | MGC1146 | TESS | TESS-2testis derived transcript (3 LIM domains)-HPRD12695497 
TRAF4CART1 | MLN62 | RNF83TNF receptor-associated factor 4TRAF4 interacts with alpha-actinin.BIND12023963 
TTNCMD1G | CMH9 | CMPD4 | CONNECTIN | DKFZp451N061 | EOMFC | FLJ26020 | FLJ26409 | FLJ32040 | FLJ34413 | FLJ39564 | FLJ43066 | HMERF | LGMD2J | TMDtitin-HPRD,BioGRID11305911 |11846417 
XRCC4-X-ray repair complementing defective repair in Chinese hamster cells 4Two-hybridBioGRID16189514 
ZYXESP-2 | HED-2zyxin-HPRD,BioGRID10224105 |11423549 


Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG FOCAL ADHESION 201138All SZGR 2.0 genes in this pathway
KEGG ADHERENS JUNCTION 7553All SZGR 2.0 genes in this pathway
KEGG TIGHT JUNCTION 13486All SZGR 2.0 genes in this pathway
KEGG LEUKOCYTE TRANSENDOTHELIAL MIGRATION 11878All SZGR 2.0 genes in this pathway
KEGG REGULATION OF ACTIN CYTOSKELETON 216144All SZGR 2.0 genes in this pathway
KEGG SYSTEMIC LUPUS ERYTHEMATOSUS 140100All SZGR 2.0 genes in this pathway
KEGG ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY ARVC 7659All SZGR 2.0 genes in this pathway
BIOCARTA CELL2CELL PATHWAY 1411All SZGR 2.0 genes in this pathway
BIOCARTA INTEGRIN PATHWAY 3829All SZGR 2.0 genes in this pathway
BIOCARTA UCALPAIN PATHWAY 1811All SZGR 2.0 genes in this pathway
ST INTEGRIN SIGNALING PATHWAY 8262All SZGR 2.0 genes in this pathway
PID ILK PATHWAY 4532All SZGR 2.0 genes in this pathway
PID SYNDECAN 4 PATHWAY 3225All SZGR 2.0 genes in this pathway
PID ECADHERIN STABILIZATION PATHWAY 4234All SZGR 2.0 genes in this pathway
PID FAK PATHWAY 5945All SZGR 2.0 genes in this pathway
REACTOME CELL CELL COMMUNICATION 12077All SZGR 2.0 genes in this pathway
REACTOME RESPONSE TO ELEVATED PLATELET CYTOSOLIC CA2 8956All SZGR 2.0 genes in this pathway
REACTOME CELL EXTRACELLULAR MATRIX INTERACTIONS 1410All SZGR 2.0 genes in this pathway
REACTOME CELL JUNCTION ORGANIZATION 7843All SZGR 2.0 genes in this pathway
REACTOME NEPHRIN INTERACTIONS 2015All SZGR 2.0 genes in this pathway
REACTOME HEMOSTASIS 466331All SZGR 2.0 genes in this pathway
REACTOME PLATELET ACTIVATION SIGNALING AND AGGREGATION 208138All SZGR 2.0 genes in this pathway
WATANABE RECTAL CANCER RADIOTHERAPY RESPONSIVE DN 9251All SZGR 2.0 genes in this pathway
BERTUCCI MEDULLARY VS DUCTAL BREAST CANCER DN 169118All SZGR 2.0 genes in this pathway
FOURNIER ACINAR DEVELOPMENT LATE DN 2113All SZGR 2.0 genes in this pathway
FULCHER INFLAMMATORY RESPONSE LECTIN VS LPS UP 579346All SZGR 2.0 genes in this pathway
CHARAFE BREAST CANCER LUMINAL VS BASAL DN 455304All SZGR 2.0 genes in this pathway
CHARAFE BREAST CANCER LUMINAL VS MESENCHYMAL DN 460312All SZGR 2.0 genes in this pathway
HOEBEKE LYMPHOID STEM CELL DN 8659All SZGR 2.0 genes in this pathway
TONKS TARGETS OF RUNX1 RUNX1T1 FUSION HSC DN 187115All SZGR 2.0 genes in this pathway
TIEN INTESTINE PROBIOTICS 6HR DN 167100All SZGR 2.0 genes in this pathway
TIEN INTESTINE PROBIOTICS 24HR UP 557331All SZGR 2.0 genes in this pathway
KIM WT1 TARGETS UP 214155All SZGR 2.0 genes in this pathway
KIM WT1 TARGETS 8HR UP 164122All SZGR 2.0 genes in this pathway
GRAHAM CML DIVIDING VS NORMAL QUIESCENT UP 181101All SZGR 2.0 genes in this pathway
BIDUS METASTASIS DN 16193All SZGR 2.0 genes in this pathway
HAHTOLA MYCOSIS FUNGOIDES CD4 DN 11671All SZGR 2.0 genes in this pathway
ENK UV RESPONSE EPIDERMIS UP 293179All SZGR 2.0 genes in this pathway
LINDGREN BLADDER CANCER CLUSTER 1 DN 378231All SZGR 2.0 genes in this pathway
BERENJENO TRANSFORMED BY RHOA UP 536340All SZGR 2.0 genes in this pathway
LANG MYB FAMILY TARGETS 2916All SZGR 2.0 genes in this pathway
MARTIN INTERACT WITH HDAC 4431All SZGR 2.0 genes in this pathway
MARTORIATI MDM4 TARGETS NEUROEPITHELIUM UP 176111All SZGR 2.0 genes in this pathway
LOPEZ MBD TARGETS 957597All SZGR 2.0 genes in this pathway
SCIAN INVERSED TARGETS OF TP53 AND TP73 DN 3123All SZGR 2.0 genes in this pathway
STARK PREFRONTAL CORTEX 22Q11 DELETION UP 195138All SZGR 2.0 genes in this pathway
AMIT EGF RESPONSE 480 HELA 164118All SZGR 2.0 genes in this pathway
NELSON RESPONSE TO ANDROGEN UP 8661All SZGR 2.0 genes in this pathway
FLECHNER BIOPSY KIDNEY TRANSPLANT OK VS DONOR UP 555346All SZGR 2.0 genes in this pathway
BROWN MYELOID CELL DEVELOPMENT UP 165100All SZGR 2.0 genes in this pathway
THEILGAARD NEUTROPHIL AT SKIN WOUND DN 225163All SZGR 2.0 genes in this pathway
REN ALVEOLAR RHABDOMYOSARCOMA DN 408274All SZGR 2.0 genes in this pathway
KAAB FAILED HEART ATRIUM DN 14199All SZGR 2.0 genes in this pathway
BLALOCK ALZHEIMERS DISEASE DN 1237837All SZGR 2.0 genes in this pathway
KAYO CALORIE RESTRICTION MUSCLE DN 8759All SZGR 2.0 genes in this pathway
KAAB HEART ATRIUM VS VENTRICLE UP 249170All SZGR 2.0 genes in this pathway
MCCLUNG COCAINE REWARD 5D 7962All SZGR 2.0 genes in this pathway
BANDRES RESPONSE TO CARMUSTIN MGMT 24HR DN 3321All SZGR 2.0 genes in this pathway
RODWELL AGING KIDNEY UP 487303All SZGR 2.0 genes in this pathway
BLALOCK ALZHEIMERS DISEASE INCIPIENT DN 165106All SZGR 2.0 genes in this pathway
BANDRES RESPONSE TO CARMUSTIN WITHOUT MGMT 48HR DN 3225All SZGR 2.0 genes in this pathway
BANDRES RESPONSE TO CARMUSTIN MGMT 48HR DN 161105All SZGR 2.0 genes in this pathway
ZHONG SECRETOME OF LUNG CANCER AND FIBROBLAST 13293All SZGR 2.0 genes in this pathway
GAVIN FOXP3 TARGETS CLUSTER P7 9052All SZGR 2.0 genes in this pathway
SMID BREAST CANCER BASAL UP 648398All SZGR 2.0 genes in this pathway
CROMER TUMORIGENESIS UP 6336All SZGR 2.0 genes in this pathway
DAVIES MULTIPLE MYELOMA VS MGUS DN 2818All SZGR 2.0 genes in this pathway
LINDSTEDT DENDRITIC CELL MATURATION D 6844All SZGR 2.0 genes in this pathway
SWEET LUNG CANCER KRAS UP 491316All SZGR 2.0 genes in this pathway
HOFFMANN PRE BI TO LARGE PRE BII LYMPHOCYTE DN 7561All SZGR 2.0 genes in this pathway
LEE EARLY T LYMPHOCYTE DN 5736All SZGR 2.0 genes in this pathway
ZHANG TLX TARGETS 60HR UP 293203All SZGR 2.0 genes in this pathway
YAGI AML WITH INV 16 TRANSLOCATION 422277All SZGR 2.0 genes in this pathway
FOURNIER ACINAR DEVELOPMENT LATE 2 277172All SZGR 2.0 genes in this pathway
WONG ADULT TISSUE STEM MODULE 721492All SZGR 2.0 genes in this pathway
YAO TEMPORAL RESPONSE TO PROGESTERONE CLUSTER 16 7947All SZGR 2.0 genes in this pathway
SASSON RESPONSE TO GONADOTROPHINS DN 8766All SZGR 2.0 genes in this pathway
SASSON RESPONSE TO FORSKOLIN DN 8868All SZGR 2.0 genes in this pathway
KARLSSON TGFB1 TARGETS UP 12778All SZGR 2.0 genes in this pathway
KARLSSON TGFB1 TARGETS DN 207139All SZGR 2.0 genes in this pathway
LI INDUCED T TO NATURAL KILLER DN 11683All SZGR 2.0 genes in this pathway
KIM ALL DISORDERS CALB1 CORR UP 548370All SZGR 2.0 genes in this pathway
WIERENGA STAT5A TARGETS DN 213127All SZGR 2.0 genes in this pathway
PILON KLF1 TARGETS DN 19721213All SZGR 2.0 genes in this pathway
MIYAGAWA TARGETS OF EWSR1 ETS FUSIONS DN 229135All SZGR 2.0 genes in this pathway
PASINI SUZ12 TARGETS DN 315215All SZGR 2.0 genes in this pathway
KOINUMA TARGETS OF SMAD2 OR SMAD3 824528All SZGR 2.0 genes in this pathway
IKEDA MIR30 TARGETS UP 11687All SZGR 2.0 genes in this pathway
PEDERSEN METASTASIS BY ERBB2 ISOFORM 7 403240All SZGR 2.0 genes in this pathway
PEDERSEN TARGETS OF 611CTF ISOFORM OF ERBB2 7645All SZGR 2.0 genes in this pathway
KRIEG KDM3A TARGETS NOT HYPOXIA 208107All SZGR 2.0 genes in this pathway