Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9229
Gene name Gene Name - the full gene name approved by the HGNC.
DLG associated protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DLGAP1
Synonyms (NCBI Gene) Gene synonyms aliases
DAP-1, DAP-1-ALPHA, DAP-1-BETA, DAP1, DLGAP1A, DLGAP1B, GKAP, SAPAP1
Chromosome Chromosome number
18
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
18p11.31
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605445 2905 ENSG00000170579
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Colorectal Cancer Colorectal cancer N/A N/A GWAS
Dementia Dementia N/A N/A GWAS
Diabetes Mild age-related type 2 diabetes, Type 2 diabetes N/A N/A GWAS
Eczema Eczema N/A N/A GWAS
Associations from Text Mining Disease 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