Gene Gene information from NCBI Gene database.
Entrez ID 9229
Gene name DLG associated protein 1
Gene symbol DLGAP1
Synonyms (NCBI Gene)
DAP-1DAP-1-ALPHADAP-1-BETADAP1DLGAP1ADLGAP1BGKAPSAPAP1
Chromosome 18
Chromosome location 18p11.31
miRNA miRNA information provided by mirtarbase database.
36
miRTarBase ID miRNA Experiments Reference
MIRT938489 hsa-miR-125a-5p CLIP-seq
MIRT938490 hsa-miR-125b CLIP-seq
MIRT938491 hsa-miR-186 CLIP-seq
MIRT938492 hsa-miR-3140-3p CLIP-seq
MIRT938493 hsa-miR-3942-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 17474147, 20936779, 21653829, 22117215
GO:0005886 Component Plasma membrane IEA
GO:0005886 Component Plasma membrane TAS
GO:0007268 Process Chemical synaptic transmission NAS 9286858
GO:0007268 Process Chemical synaptic transmission TAS 9024696
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605445 2905 ENSG00000170579
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O14490
Protein name Disks large-associated protein 1 (DAP-1) (Guanylate kinase-associated protein) (hGKAP) (PSD-95/SAP90-binding protein 1) (SAP90/PSD-95-associated protein 1) (SAPAP1)
Protein function Part of the postsynaptic scaffold in neuronal cells.
PDB 5YPO , 6TNQ , 6TQ0
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03359 GKAP 645 977 Guanylate-kinase-associated protein (GKAP) protein Family
Tissue specificity TISSUE SPECIFICITY: Expressed in brain.
Sequence
MKGLSGSRSHHHGVTCDSACDSLSHHSDRKPYLLSPVEHHPADHPYYTQRNSFQAECVGP
FSDPLASSTFPRRHYTSQQELKDECALVPRTLATKANRIPANLLDQFERQLPLSRDGYHT
LQYKRTAVEHRSDSPGRIRHLVHSVQKLFTKSHSLEGPSKGSVNGGKASPDEAQAARYGK
RSKSKERRAEPKARPSTSPGWWSSDDNLDGDMCIYHAPSGVMTMGRCPDRSASQYFLEAY
NTISEQAVKASRSNNDVKCSTCANLPVSLDTPLLKKSAWSSTLTVSRAREVYQKASVNMD
QAMVKSESCQQERSCQYLQVPQDEWTGYTPRGKDDEIPCRRMRSGSYIKAMGDEDSGDSD
TSPKPSPKVAARRESYLKATQPSLTELTTLKISNEHSPKLQIRSHSYLRAVSEVSINRSL
DSLDPAGLLTSPKFRSRNESYMRAMSTISQVSEMEVNGQFESVCESVFSELESQAVEALD
LPMPGCFRMRSHSYVRAIEKGCSQDDECVSLRSSSPPRTTTTVRTIQSSTVSSCITTYKK
TPPPVPPRTTTKPFISITAQSSTESAQDAYMDGQGQRGDIISQSGLSNSTESLDSMKALT
AAIEAANAQIHGPASQHMGNNTATVTTTTTIATVTTEDRKKDHFKKNRCLSIGIQVDDAE
EPDKTGENKAPSKFQSVGVQVEEEKCFRRFTRSNSVTTAVQADLDFHDNLENSLESIEDN
SCPGPMARQFSRDASTSTVSIQGSGNHYHACAADDDFDTDFDPSILPPPDPWIDSITEDP
LEAVQRSVCHRDGHWFLKLLQAERDRMEGWCQQMEREERENNLPEDILGKIRTAVGSAQL
LMAQKFYQFRELCEENLNPNAHPRPTSQDLAGFWDMLQLSIENISMKFDELHQLKANNWK
QMDPLDKKERRAPPPVPKKPAKGPAPLIRERSLESSQRQEARKRLMAAKRAASVRQNSAT
ESAESIEIYIPEAQTRL
Sequence length 977
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Glutamatergic synapse   Neurexins and neuroligins
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
29
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Developmental disorder Uncertain significance rs373210125 RCV003127309
DLGAP1-related disorder Benign; Likely benign rs56017170, rs80137116, rs375283433, rs3786431, rs373754921, rs35822832, rs56234957, rs3745051, rs746166320, rs572366902, rs141559337, rs772737666, rs149516374, rs141711371, rs142690410
View all (12 more)
RCV003976075
RCV003897350
RCV003921860
RCV003982496
RCV003911841
RCV003916849
RCV003964384
RCV003984583
RCV003911551
RCV003897293
RCV003959768
RCV003964048
RCV003931380
RCV003936978
RCV003947082
RCV003969285
RCV003922248
RCV003936915
RCV003954854
RCV003967224
RCV003972273
RCV003978981
RCV003976469
RCV003978221
RCV003918455
RCV003936155
RCV003950596
Malignant tumor of esophagus Likely benign rs149516374 RCV005938761
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Aging Premature Associate 37110517
Attention Deficit Disorder with Hyperactivity Associate 29484270
Breast Neoplasms Associate 37110517
Carcinogenesis Stimulate 35972892
Carcinogenesis Associate 36376892
Carcinoma Hepatocellular Associate 27221742, 33195697
Carcinoma Non Small Cell Lung Associate 34454450
Carcinoma Non Small Cell Lung Stimulate 35972892
Carcinoma Renal Cell Associate 36611858
Cholangiocarcinoma Stimulate 33301605