DLGAP3 (DLG associated protein 3)

Gene Basic Information

Gene Basic Information

symbol:
DLGAP3
locus group:
protein-coding gene
location:
1p34.3
gene_family:
alias symbol:
SAPAP3|DAP3
alias name:
None
entrez id:
58512
ensembl gene id:
ENSG00000116544
ucsc gene id:
uc057equ.1
refseq accession:
NM_021234
hgnc_id:
HGNC:30368
approved reserved:
2004-03-17

Chromosome Location

Chromosome Location

1p34.3

Gene Summary

Gene Summary

DLGAP3（Discs Large Homolog Associated Protein 3）是DLGAP基因家族的一员，属于突触后密度蛋白（PSD）家族，主要在大脑中表达，尤其在神经元突触后密集区富集。该基因编码的蛋白质含有多个功能域，包括PDZ结构域和GK结构域，这些结构域使其能够与其他突触蛋白（如PSD-95）相互作用，参与突触信号传递和神经元可塑性的调控。DLGAP3在维持突触结构和功能稳定性中起关键作用，影响学习、记忆等高级认知功能。DLGAP基因家族的共性在于它们均含有保守的PDZ和GK结构域，能够与突触相关蛋白形成复合物，调控突触后信号传导。DLGAP3的突变可能导致其与PSD-95等蛋白的结合能力下降，破坏突触稳定性，进而与精神分裂症、自闭症谱系障碍（ASD）等神经发育疾病相关。研究表明，DLGAP3表达异常（如过表达或降低表达）可能影响突触可塑性，过表达可能增强突触信号传导效率，但过度激活可能导致神经元过度兴奋或异常连接；而表达降低则可能削弱突触功能，导致认知障碍或行为异常。此外，DLGAP3的表达变化还可能影响其他突触相关基因（如NMDA受体亚基）的表达或功能，进一步扰乱神经环路。动物模型中，DLGAP3缺失会引发社交行为缺陷和记忆障碍，模拟人类神经精神疾病的部分症状。因此，DLGAP3是神经发育和突触功能研究的重要靶点，其调控机制可能为相关疾病的治疗提供新思路。

OMIM entry for DLGAP3     Wikipedia entry for DLGAP3

Gene Sequence

Gene Sequence

Nucleotide sequence of DLGAP3:[NCBI]
Loading Gene Browser...

Encoded Protein

Encoded Protein

Protein Sequence
1MRGYHGDRGS HPRPARFADQ QHMDVGPAAR APYLLGSREA
41FSTEPRFCAP RAGLGHISPE GPLSLSEGPS VGPEGGPAGA
81 GVGGGSSTF PRMYPGQGPF DTCEDCVGHP QGKGAPRLPP
121TLLDQFEKQL PVQQDGFHTL PYQRGPAGAG PGPAPGTGTA
161P EPRSESPS RIRHLVHSVQ KLFAKSHSLE APGKRDYNGP
201KAEGRGGSGG DSYPGPGSGG PHTSHHHHHH HHHHHHQSRH
241GK RSKSKDR KGDGRHQAKS TGWWSSDDNL DSDSGFLAGG
281RPPGEPGGPF CLEGPDGSYR DLSFKGRSGG SEGRCLACTG
321MSM SLDGQS VKRSAWHTMM VSQGRDGYPG AGPGKGLLGP
361ETKAKARTYH YLQVPQDDWG GYPTGGKDGE IPCRRMRSGS
401YIKA MGDEE SGDSDGSPKT SPKAVARRFT TRRSSSVDQA
441RINCCVPPRI HPRSSIPGYS RSLTTGQLSD ELNQQLEAVC
481GSVFG ELES QAVDALDLPG CFRMRSHSYL RAIQAGCSQD
521DDCLPLLATP AAVSGRPGSS FNFRKAPPPI PPGSQAPPRI
561SITAQS STD SAHESFTAAE GPARRCSSAD GLDGPAMGAR
601TLELAPVPPR ASPKPPTLII KTIPGREELR SLARQRKWRP
641SIGVQVE TI SDSDTENRSR REFHSIGVQV EEDKRRARFK
681RSNSVTAGVQ ADLELEGLAG LATVATEDKA LQFGRSFQRH
721ASEPQPGP R APTYSVFRTV HTQGQWAYRE GYPLPYEPPA
761TDGSPGPAPA PTPGPGAGRR DSWIERGSRS LPDSGRASPC
801PRDGEWFIK MLRAEVEKLE HWCQQMEREA EDYELPEEIL
841EKIRSAVGST QLLLSQKVQQ FFRLCQQSMD PTAFPVPTFQ
881DLAGFWDLLQ LSIEDVTLK FLELQQLKAN SWKLLEPKEE
921KKVPPPIPKK PLRGRGVPVK ERSLDSVDRQ RQEARKRLLA
961AKRAASFRHS S ATESADSI EIYIPEAQTR L
结构预测来自 AlphaFold DB（UniProt: O95886），颜色表示 pLDDT 置信度（深蓝高、黄橙低）。

Gene Variants

Gene Variants

SNP variants of DLGAP3:           Showing partial SNPs
rs3587       rs944920       rs1001616       rs1931058       rs1931059       rs1931060       rs2064900       rs2151553       rs2184187       rs3209018       rs4259608       rs4372214       rs4417025       rs4515751       rs4548402       rs4652865       rs4652866      

Gene Expression

Gene Expression

Tissue expression of DLGAP3:    [UniProt]

Gene expression across tissues

Gene Primers

Gene Primers

Forward Primer
Forward Tm
Reverse Primer
Reverse Tm
Score
ACGATTCAGTGGTCCTGAG
59
CATCCTTGATGTCAGGATCC
57
ATGTGACCCTCAAGTTCCTG
59
CCTTCTTCTCCTCCTTAGGC
59
ACGATTCAGTGGTCCTGAG
59
ATCCTTGATGTCAGGATCCC
59
CAAAGCATGGATCCCACTG
58
GATGGAGAGCTGTAGGAGG
58
ACGATTCAGTGGTCCTGAG
59
TCCTTGATGTCAGGATCCC
58
GATGTGACCCTCAAGTTCCT
59
CTTCTTCTCCTCCTTAGGCTC
59

Transcription Factors

Transcription Factors

      No data available

Gene Ontology

Subcellular localization of DLGAP3 (and its protein):

[UniProt]     [GenomeNet]

" d="M482.414,245.296c3.539,4.293,4.455,10.009,0.202,11 c-4.244,0.996-4.983-10.983-8.293-8.438c-5.271,4.08,9.834,12.271,5.144,17.287c-3.717,3.607-6.172-5.75-10.839-1.976 c-4.673,3.776,6.781,7.299,2.831,11.326c-4.354,4.045-6.979-1.449-9.837-5.517c-1.193-1.742-2.059-3.851-3.595-2.748 c-1.516,1.078-1.854,1.795-0.938,3.666c2.374,4.854,9.235,10.119,5.156,12.535c-5.636,3.346-5.044-8.871-9.426-7.574 c-4.388,1.291,2.557,10.66-1.245,11.141c-4.089,0.545-3.483-10.239-6.979-8.575c-2.522,1.206-0.929,3.071-0.938,4.899 c0.004,1.32-0.964,3.6-2.372,4.062c-3.593,1.171-8.544-1.065-10.251-3.59c-6.04-8.93,0.396-15.997,4.639-7.015 c3.023,4.642,5.182,0.834,2.839-2.219c-1.032-1.354-4.309-5.901-0.781-7.252c2.904-1.113,4.271,1.941,5.985,4.592 c2.61,4.016,5.485,0.117,3.031-3.414c-1.828-2.633-2.74-3.803,3.156-7.42c6.405-4.369,6.52,3.869,10.077,0.646 c2.309-1.832-4.783-5.149,0.06-8.995c2.896-2.293,5.18,6.207,7.961,3.516c3.523-2.737-7.717-7.369,0.117-11.736 C473.413,240.77,480.519,242.891,482.414,245.296z"/> Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • plasma membrane
  • cytoplasm
  • extracellular
  • golgi
  • vesicle
  • cytoskeleton
  • endoplasmic reticulum
  • nucleus
  • endosome
  • lysosome
  • mitochondrion

Gene Ontology (GO) terms for DLGAP3:

GO ID
Protein
Source DB
GO:0001540
O95886 (UniProtKB)
IEA
GO:0005515
O95886 (UniProtKB)
IPI
GO:0014069
O95886 (UniProtKB)
IEA
GO:0019904
O95886 (UniProtKB)
IEA
GO:0023052
O95886 (UniProtKB)
IEA
GO:0030054
O95886 (UniProtKB)
IEA
GO:0043025
O95886 (UniProtKB)
IEA
GO:0043197
O95886 (UniProtKB)
IEA
GO:0045211
O95886 (UniProtKB)
IEA

Related microRNA

Related microRNA

microRNAs potentially regulating DLGAP3:     

Gene Interactions

Gene Interactions

String
BioGrid
IntAct
mentha
Loading…
Interacting Gene Interaction Source/Score

Gene Pathways

Gene Pathways

Related Diseases

Related Diseases

Disease Score NofPmids NofSnps Source
Disease Score NofPmids NofSnps Source
Obsessive-Compulsive Disorder 0.080542884 2 0 BeFree_MGD
Schizophrenia 0.000542884 2 0 BeFree
Glioblastoma Multiforme 0.000542884 2 0 BeFree
Glioblastoma 0.000542884 2 0 BeFree
Osteochondritis Dissecans 0.000542884 2 0 BeFree
Glioma 0.000271442 1 0 BeFree
Malignant neoplasm of stomach 0.000271442 1 0 BeFree
Thyroid Neoplasm 0.000271442 1 0 BeFree
Thymoma 0.000271442 1 0 BeFree
Gilles de la Tourette syndrome 0.000271442 1 0 BeFree

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