Summary ?
GeneID1739
SymbolDLG1
SynonymsDLGH1|SAP-97|SAP97|dJ1061C18.1.1|hdlg
Descriptiondiscs large homolog 1, scribble cell polarity complex component
ReferenceMIM:601014|HGNC:HGNC:2900|Ensembl:ENSG00000075711|HPRD:03007|Vega:OTTHUMG00000047972
Gene typeprotein-coding
Map location3q29
Pascal p-value0.017
Fetal beta-1.399
eGeneCerebellar Hemisphere
Cerebellum
Myers' cis & trans
SupportPROTEIN CLUSTERING
G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-CONSENSUS
G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-FULL
G2Cdb.human_BAYES-COLLINS-MOUSE-PSD-CONSENSUS
G2Cdb.human_PocklingtonH1
G2Cdb.human_TAP-PSD-95-CORE
G2Cdb.humanNRC
CompositeSet
Potential synaptic genes

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CNV:YESCopy number variation studiesManual curation
CV:PGCnpGenome-wide Association StudyGWAS
DNM:Fromer_2014Whole Exome Sequencing analysisThis study reported a WES study of 623 schizophrenia trios, reporting DNMs using genomic DNA.
PMID:cooccurHigh-throughput literature-searchSystematic search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included.
LiteratureHigh-throughput literature-searchCo-occurance with Schizophrenia keywords: schizophrenia,schizophrenic,schizophrenics,schizophreniasClick to show details
GO_AnnotationMapping neuro-related keywords to Gene Ontology annotationsHits with neuro-related keywords: 1 
NetworkShortest path distance of core genes in the Human protein-protein interaction networkContribution to shortest path in PPI network: 1.2622 

Section I. Genetics and epigenetics annotation

@DNM table

GeneChromosomePositionRefAltTranscriptAA changeMutation typeSiftCG46TraitStudy
DLG1chr3196863463CTNM_001098424
NM_001204386
NM_001204387
NM_001204388
NM_004087
p.357G>S
p.324G>S
p.241G>S
p.241G>S
p.357G>S
missense
missense
missense
missense
missense
SchizophreniaDNM:Fromer_2014

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs17015843chr279141922DLG117390.01trans
rs17015845chr279142386DLG117390trans
rs17015849chr279142711DLG117390trans
rs17015851chr279143328DLG117390trans
rs17015854chr279143361DLG117390trans
rs17015885chr279151081DLG117390.08trans
rs10219790chr1355281771DLG117390.15trans

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.

No co-expressed genes in brain regions


Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0005515protein bindingIEA-
GO:0004721phosphoprotein phosphatase activityTAS15302935 
GO:0004385guanylate kinase activityTAS7937897 
GO:0019902phosphatase bindingIPI10646847 
GO:0008092cytoskeletal protein bindingTAS8825652 
GO:0008022protein C-terminus bindingIPI11274188 
GO:0015459potassium channel regulator activityNAS10779557 
GO:0019901protein kinase bindingIPI9341123 |10779557 |14699157 
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0001935endothelial cell proliferationIDA14699157 
GO:0007163establishment or maintenance of cell polarityTAS12766944 
GO:0007015actin filament organizationIDA14699157 
GO:0016337cell-cell adhesionIDA14699157 
GO:0031575G1/S transition checkpointNAS10656683 
GO:0030866cortical actin cytoskeleton organizationIDA14699157 
GO:0045930negative regulation of mitotic cell cycleIMP10656683 
GO:0044419interspecies interaction between organismsIEA-
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0045211postsynaptic membraneIEASynap, Neurotransmitter (GO term level: 5)-
GO:0045202synapseIEAneuron, Synap, Neurotransmitter, Glial (GO term level: 2)-
GO:0005789endoplasmic reticulum membraneIEA-
GO:0005783endoplasmic reticulumIEA-
GO:0005911cell-cell junctionTAS7937897 
GO:0005886plasma membraneTAS10859302 
GO:0016323basolateral plasma membraneIDA8922391 

Section IV. Protein-protein interaction annotation

InteractorsAliases BOfficial full name BExperimentalSourcePubMed ID
ACTN2CMD1AAactinin, alpha 2-HPRD,BioGRID12860415 
ADAM17CD156b | MGC71942 | TACE | cSVPADAM metallopeptidase domain 17PDZ domain of SAP97 interacts with C-terminal tail of TACE.BIND12668732 
ADAM17CD156b | MGC71942 | TACE | cSVPADAM metallopeptidase domain 17-HPRD,BioGRID12668732 
AKAP5AKAP75 | AKAP79 | H21A kinase (PRKA) anchor protein 5-HPRD10939335 
APBA1D9S411E | MINT1 | X11 | X11A | X11ALPHAamyloid beta (A4) precursor protein-binding, family A, member 1Affinity Capture-WesternBioGRID14960569 
ATP2B2PMCA2 | PMCA2a | PMCA2iATPase, Ca++ transporting, plasma membrane 2PMCA2b interacts with SAP97.BIND11274188 
ATP2B2PMCA2 | PMCA2a | PMCA2iATPase, Ca++ transporting, plasma membrane 2-HPRD,BioGRID11274188 
ATP2B4ATP2B2 | DKFZp686G08106 | DKFZp686M088 | MXRA1 | PMCA4 | PMCA4b | PMCA4xATPase, Ca++ transporting, plasma membrane 4Reconstituted ComplexBioGRID12511555 
ATP2B4ATP2B2 | DKFZp686G08106 | DKFZp686M088 | MXRA1 | PMCA4 | PMCA4b | PMCA4xATPase, Ca++ transporting, plasma membrane 4-HPRD11274188 
ATP2B4ATP2B2 | DKFZp686G08106 | DKFZp686M088 | MXRA1 | PMCA4 | PMCA4b | PMCA4xATPase, Ca++ transporting, plasma membrane 4PMCA4b interacts with SAP97. This interaction was modeled on a demonstrated interaction between human PMCA4b and rat SAP97.BIND11274188 
BEGAINKIAA1446brain-enriched guanylate kinase-associated homolog (rat)-HPRD9756850 
BTRCBETA-TRCP | FBW1A | FBXW1 | FBXW1A | FWD1 | MGC4643 | bTrCP | bTrCP1 | betaTrCPbeta-transducin repeat containingAffinity Capture-Western
Reconstituted Complex
BioGRID12902344 
CACNG2MGC138502 | MGC138504calcium channel, voltage-dependent, gamma subunit 2Affinity Capture-WesternBioGRID11140673 
CAMK2ACAMKA | KIAA0968calcium/calmodulin-dependent protein kinase II alpha-HPRD,BioGRID12933808 
CASKCAGH39 | CMG | FLJ22219 | FLJ31914 | LIN2 | MICPCH | TNRC8calcium/calmodulin-dependent serine protein kinase (MAGUK family)Affinity Capture-Western
in vitro
in vivo
Reconstituted Complex
Two-hybrid
BioGRID10993877 |12151521 
|12351654 |14960569 
CASKCAGH39 | CMG | FLJ22219 | FLJ31914 | LIN2 | MICPCH | TNRC8calcium/calmodulin-dependent serine protein kinase (MAGUK family)CASK interacts with DLG1 (SAP97).BIND15729360 
CASKCAGH39 | CMG | FLJ22219 | FLJ31914 | LIN2 | MICPCH | TNRC8calcium/calmodulin-dependent serine protein kinase (MAGUK family)-HPRD10993877 |12351654 
CDH1Arc-1 | CD324 | CDHE | ECAD | LCAM | UVOcadherin 1, type 1, E-cadherin (epithelial)-HPRD9512503 
CRIPTHSPC139cysteine-rich PDZ-binding protein-HPRD,BioGRID12070168 
CTNNA1CAP102 | FLJ36832catenin (cadherin-associated protein), alpha 1, 102kDa-HPRD,BioGRID9512503 
CTNNB1CTNNB | DKFZp686D02253 | FLJ25606 | FLJ37923catenin (cadherin-associated protein), beta 1, 88kDa-HPRD9512503 
DLG2DKFZp781D1854 | DKFZp781E0954 | FLJ37266 | MGC131811 | PSD-93discs, large homolog 2, chapsyn-110 (Drosophila)-HPRD,BioGRID12351654 
DLG3KIAA1232 | MRX | MRX90 | NE-Dlg | NEDLG | SAP102discs, large homolog 3 (neuroendocrine-dlg, Drosophila)-HPRD,BioGRID12351654 
DLG4FLJ97752 | FLJ98574 | PSD95 | SAP90discs, large homolog 4 (Drosophila)Affinity Capture-WesternBioGRID9286858 
DLGAP1DAP-1 | DAP-1-ALPHA | DAP-1-BETA | GKAP | MGC88156 | SAPAP1 | hGKAPdiscs, large (Drosophila) homolog-associated protein 1-HPRD,BioGRID9286858 
DLGAP1DAP-1 | DAP-1-ALPHA | DAP-1-BETA | GKAP | MGC88156 | SAPAP1 | hGKAPdiscs, large (Drosophila) homolog-associated protein 1hDLG interacts with DAP-1alpha.BIND9286858 
DLGAP1DAP-1 | DAP-1-ALPHA | DAP-1-BETA | GKAP | MGC88156 | SAPAP1 | hGKAPdiscs, large (Drosophila) homolog-associated protein 1DLGAP1 (GKAP) interacts with DLG1 (SAP97).BIND15729360 
DLGAP1DAP-1 | DAP-1-ALPHA | DAP-1-BETA | GKAP | MGC88156 | SAPAP1 | hGKAPdiscs, large (Drosophila) homolog-associated protein 1hDLG interacts with DAP-1beta.BIND9286858 
DLGAP2DAP2 | SAPAP2discs, large (Drosophila) homolog-associated protein 2hDLG interacts with DAP-2.BIND9286858 
DLGAP4DAP4 | KIAA0964 | MGC131862 | RP5-977B1.6 | SAPAP4discs, large (Drosophila) homolog-associated protein 4-HPRD9115257 
EPB414.1R | EL1 | HEerythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)-HPRD,BioGRID7937897 
ERBB4HER4 | MGC138404 | p180erbB4v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian)-HPRD,BioGRID12175853 
EZRCVIL | CVL | DKFZp762H157 | FLJ26216 | MGC1584 | VIL2ezrin-HPRD,BioGRID11726633 
GDACYPIN | GUANASE | KIAA1258 | MGC9982 | NEDASINguanine deaminase-HPRD10595517 
GPR124DKFZp434C211 | DKFZp434J0911 | FLJ14390 | KIAA1531 | TEM5G protein-coupled receptor 124Affinity Capture-Western
Reconstituted Complex
Two-hybrid
BioGRID15021905 
GPR125PGR21 | TEM5LG protein-coupled receptor 125-HPRD15021905 
GRIA1GLUH1 | GLUR1 | GLURA | HBGR1 | MGC133252glutamate receptor, ionotropic, AMPA 1-HPRD,BioGRID9677374 |11567040 
GRIK2EAA4 | GLR6 | GLUK6 | GLUR6 | MGC74427 | MRT6glutamate receptor, ionotropic, kainate 2-HPRD,BioGRID11279111 
GRIN2ANMDAR2A | NR2Aglutamate receptor, ionotropic, N-methyl D-aspartate 2A-HPRD,BioGRID12933808 
GRIN2BMGC142178 | MGC142180 | NMDAR2B | NR2B | hNR3glutamate receptor, ionotropic, N-methyl D-aspartate 2BAffinity Capture-WesternBioGRID11997254 
GUCY1A2GC-SA2 | GUC1A2guanylate cyclase 1, soluble, alpha 2-HPRD,BioGRID11572861 
KCNA4HBK4 | HK1 | HPCN2 | HUKII | KCNA4L | KCNA8 | KV1.4 | PCN2potassium voltage-gated channel, shaker-related subfamily, member 4-HPRD,BioGRID12860415 
KCNA5ATFB7 | HCK1 | HK2 | HPCN1 | KV1.5 | MGC117058 | MGC117059 | PCN1potassium voltage-gated channel, shaker-related subfamily, member 5Affinity Capture-WesternBioGRID12970345 
KCNAB1AKR6A3 | KCNA1B | KV-BETA-1 | Kvb1.3 | hKvBeta3 | hKvb3potassium voltage-gated channel, shaker-related subfamily, beta member 1-HPRD,BioGRID9341123 
KCNJ10BIRK-10 | KCNJ13-PEN | KIR1.2 | KIR4.1potassium inwardly-rectifying channel, subfamily J, member 10-HPRD9148889 
KCNJ12FLJ14167 | IRK2 | KCNJN1 | Kir2.2 | Kir2.2v | hIRK | hIRK1 | hkir2.2x | kcnj12xpotassium inwardly-rectifying channel, subfamily J, member 12-HPRD,BioGRID5024025 |11181181 
|14960569 
KCNJ2HHBIRK1 | HHIRK1 | IRK1 | KIR2.1 | LQT7 | SQT3potassium inwardly-rectifying channel, subfamily J, member 2-HPRD,BioGRID11181181 
KCNJ4HIR | HIRK2 | HRK1 | IRK3 | Kir2.3 | MGC142066 | MGC142068potassium inwardly-rectifying channel, subfamily J, member 4Affinity Capture-Western
Reconstituted Complex
BioGRID11181181 |14960569 
|15024025 
KCNJ6BIR1 | GIRK2 | KATP2 | KCNJ7 | KIR3.2 | MGC126596 | hiGIRK2potassium inwardly-rectifying channel, subfamily J, member 6Reconstituted ComplexBioGRID10619846 
KIF13BGAKIN | KIAA0639kinesin family member 13B-HPRD,BioGRID10859302 
KIF1BCMT2 | CMT2A | CMT2A1 | FLJ23699 | HMSNII | KIAA0591 | KIAA1448 | KLP | MGC134844kinesin family member 1B-HPRD12097473 
LCKYT16 | p56lck | pp58lcklymphocyte-specific protein tyrosine kinase-HPRD,BioGRID9341123 
LIN7ALIN-7A | LIN7 | MALS-1 | MGC148143 | TIP-33 | VELI1lin-7 homolog A (C. elegans)Affinity Capture-WesternBioGRID14960569 
LIN7CFLJ11215 | LIN-7-C | LIN-7C | MALS-3 | MALS3 | VELI3lin-7 homolog C (C. elegans)Affinity Capture-WesternBioGRID14960569 
LRP2DBS | gp330low density lipoprotein-related protein 2-HPRD12713445 
LRRC1FLJ10775 | FLJ11834 | LANO | dJ523E19.1leucine rich repeat containing 1Two-hybridBioGRID11440998 
MAP1AFLJ77111 | MAP1L | MTAP1Amicrotubule-associated protein 1A-HPRD9786987 
MRPS34MGC2616 | MRP-S12 | MRP-S34 | MRPS12mitochondrial ribosomal protein S34DLG1 (hDLG) interacts with MRPS34 (MRP-S34).BIND12507520 
MYO6DFNA22 | DFNB37 | KIAA0389myosin VI-HPRD12050163 
PBKFLJ14385 | Nori-3 | SPK | TOPKPDZ binding kinasePBK interacts with DLG1 (SAP97). This interaction was modelled on a demonstrated interaction between PBK from an unspecified species and human DLG1 (SAP97).BIND15729360 
PBKFLJ14385 | Nori-3 | SPK | TOPKPDZ binding kinase-HPRD10779557 
SEMA4CFLJ20369 | KIAA1739 | M-SEMA-F | MGC126382 | MGC126383 | SEMACL1 | SEMAF | SEMAIsema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C-HPRD11134026 
TANC1KIAA1728 | ROLSB | TANCtetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1-HPRD15673434 
TJAP1DKFZp686F06131 | PILT | TJP4tight junction associated protein 1 (peripheral)-HPRD,BioGRID11602598 


Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG T CELL RECEPTOR SIGNALING PATHWAY 10889All SZGR 2.0 genes in this pathway
PID CDC42 PATHWAY 7051All SZGR 2.0 genes in this pathway
PID ECADHERIN NASCENT AJ PATHWAY 3933All SZGR 2.0 genes in this pathway
REACTOME DEVELOPMENTAL BIOLOGY 396292All SZGR 2.0 genes in this pathway
REACTOME TRANSMISSION ACROSS CHEMICAL SYNAPSES 186155All SZGR 2.0 genes in this pathway
REACTOME NEURONAL SYSTEM 279221All SZGR 2.0 genes in this pathway
REACTOME NEUROTRANSMITTER RECEPTOR BINDING AND DOWNSTREAM TRANSMISSION IN THE POSTSYNAPTIC CELL 137110All SZGR 2.0 genes in this pathway
REACTOME AXON GUIDANCE 251188All SZGR 2.0 genes in this pathway
REACTOME TRAFFICKING OF AMPA RECEPTORS 2823All SZGR 2.0 genes in this pathway
REACTOME ACTIVATION OF KAINATE RECEPTORS UPON GLUTAMATE BINDING 3123All SZGR 2.0 genes in this pathway
REACTOME IONOTROPIC ACTIVITY OF KAINATE RECEPTORS 1111All SZGR 2.0 genes in this pathway
REACTOME L1CAM INTERACTIONS 8662All SZGR 2.0 genes in this pathway
LIU SOX4 TARGETS DN 309191All SZGR 2.0 genes in this pathway
ONKEN UVEAL MELANOMA DN 526357All SZGR 2.0 genes in this pathway
CHEMNITZ RESPONSE TO PROSTAGLANDIN E2 DN 391222All SZGR 2.0 genes in this pathway
GARY CD5 TARGETS UP 473314All SZGR 2.0 genes in this pathway
LIU CMYB TARGETS UP 165106All SZGR 2.0 genes in this pathway
WANG LMO4 TARGETS UP 372227All SZGR 2.0 genes in this pathway
DITTMER PTHLH TARGETS UP 11268All SZGR 2.0 genes in this pathway
SENESE HDAC1 TARGETS UP 457269All SZGR 2.0 genes in this pathway
RODRIGUES THYROID CARCINOMA ANAPLASTIC UP 722443All SZGR 2.0 genes in this pathway
CHOW RASSF1 TARGETS UP 2717All SZGR 2.0 genes in this pathway
ENK UV RESPONSE EPIDERMIS DN 508354All SZGR 2.0 genes in this pathway
GRAESSMANN APOPTOSIS BY DOXORUBICIN DN 17811082All SZGR 2.0 genes in this pathway
DACOSTA UV RESPONSE VIA ERCC3 XPCS DN 8871All SZGR 2.0 genes in this pathway
DACOSTA UV RESPONSE VIA ERCC3 DN 855609All SZGR 2.0 genes in this pathway
SHEN SMARCA2 TARGETS UP 424268All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 16HR UP 225139All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 8HR UP 10573All SZGR 2.0 genes in this pathway
APRELIKOVA BRCA1 TARGETS 4933All SZGR 2.0 genes in this pathway
LEE AGING NEOCORTEX UP 8959All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 12HR UP 11168All SZGR 2.0 genes in this pathway
DURCHDEWALD SKIN CARCINOGENESIS DN 264168All SZGR 2.0 genes in this pathway
RIGGINS TAMOXIFEN RESISTANCE DN 220147All SZGR 2.0 genes in this pathway
KYNG DNA DAMAGE BY GAMMA AND UV RADIATION 8865All SZGR 2.0 genes in this pathway
KYNG DNA DAMAGE DN 195135All SZGR 2.0 genes in this pathway
WANG TUMOR INVASIVENESS DN 210128All SZGR 2.0 genes in this pathway
BOHN PRIMARY IMMUNODEFICIENCY SYNDROM UP 4730All SZGR 2.0 genes in this pathway
YOSHIMURA MAPK8 TARGETS UP 1305895All SZGR 2.0 genes in this pathway
GABRIELY MIR21 TARGETS 289187All SZGR 2.0 genes in this pathway