DLGAP1 (DLG associated protein 1)

Gene

• Entrez ID: 9229
• Gene name: DLG associated protein 1
• Gene symbol: DLGAP1
• Synonyms (NCBI Gene): DAP-1, DAP-1-ALPHA, DAP-1-BETA, DAP1, DLGAP1A, DLGAP1B, GKAP, SAPAP1
• Chromosome: 18
• Chromosome location: 18p11.31

miRNA

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
MIRT938494	hsa-miR-4319	CLIP-seq
MIRT938495	hsa-miR-4446-5p	CLIP-seq
MIRT938496	hsa-miR-4686	CLIP-seq
MIRT938497	hsa-miR-4732-3p	CLIP-seq
MIRT938498	hsa-miR-4755-5p	CLIP-seq
MIRT938499	hsa-miR-4775	CLIP-seq
MIRT938500	hsa-miR-670	CLIP-seq
MIRT938501	hsa-miR-3182	CLIP-seq
MIRT938502	hsa-miR-3672	CLIP-seq
MIRT938503	hsa-miR-4461	CLIP-seq
MIRT1977686	hsa-miR-3944-5p	CLIP-seq
MIRT2428266	hsa-miR-137	CLIP-seq
MIRT938493	hsa-miR-3942-3p	CLIP-seq
MIRT2428267	hsa-miR-3977	CLIP-seq
MIRT2448302	hsa-miR-1291	CLIP-seq
MIRT2448303	hsa-miR-328	CLIP-seq
MIRT2448304	hsa-miR-34a	CLIP-seq
MIRT2448305	hsa-miR-34c-5p	CLIP-seq
MIRT2448306	hsa-miR-449a	CLIP-seq
MIRT2448307	hsa-miR-449b	CLIP-seq
MIRT2448308	hsa-miR-4639-3p	CLIP-seq
MIRT2448309	hsa-miR-4715-5p	CLIP-seq
MIRT2448310	hsa-miR-4727-5p	CLIP-seq
MIRT2448311	hsa-miR-4769-3p	CLIP-seq
MIRT2448312	hsa-miR-4799-5p	CLIP-seq
MIRT2516876	hsa-miR-145	CLIP-seq
MIRT2516877	hsa-miR-181a	CLIP-seq
MIRT2516878	hsa-miR-181b	CLIP-seq
MIRT2516879	hsa-miR-181c	CLIP-seq
MIRT2516880	hsa-miR-181d	CLIP-seq
MIRT2516881	hsa-miR-4262	CLIP-seq

Gene ontology (GO)

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
GO:0014069	Component	Postsynaptic density	IEA
GO:0016020	Component	Membrane	IEA
GO:0023052	Process	Signaling	IEA
GO:0044877	Function	Protein-containing complex binding	ISS
GO:0045202	Component	Synapse	IEA
GO:0050804	Process	Modulation of chemical synaptic transmission	IBA
GO:0060090	Function	Molecular adaptor activity	IBA
GO:0098978	Component	Glutamatergic synapse	IBA
GO:0099572	Component	Postsynaptic specialization	IBA

Other IDs

• MIM: 605445
• HGNC: 2905
• e!Ensembl: 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

Pathways

KEGG:

Glutamatergic synapse

Reactome:

Neurexins and neuroligins

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ASTROCYTOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHONDROMALACIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DLGAP1-related disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLOBAL DEVELOPMENTAL DELAY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOSITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Age related macular degeneration	Age-related macular degeneration	BEFREE	31367973		★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	29484270	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	29484270		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	29396406, 30664629		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	22798505, 25530065		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	37110517	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	35972892	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	36376892	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	27221742, 33195697	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	36611858	Associate	★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	33301605	Stimulate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	29484270	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	36376892	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	40298873	Associate	★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	31477833		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	34536977	Stimulate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	35341001	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	31477833		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	Pubtator	33195697, 33301605, 34454450, 35113786, 35341001	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Head and Neck Neoplasms	Head And Neck Neoplasms	BEFREE	29905017		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	34593835	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoxia	Hypoxia	Pubtator	37817462	Stimulate	★☆☆☆☆ Found in Text Mining only
Islet Cell Tumor	Islet Cell Tumor	BEFREE	29606348		★☆☆☆☆ Found in Text Mining only
Lipoatrophy	Lipoatrophy	BEFREE	25950743		★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	BEFREE	25950743		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	40055367	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	34037089	Stimulate	★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	31367973	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	22798505, 25530065		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	24188633	Associate	★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	GWASDB_DG	19629137		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29606348, 29905017		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	11020216		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	CTD_human_DG	28191889		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obsessive-Compulsive Disorder	Obsessive-Compulsive Disorder	BEFREE	29396406		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	34852770, 37817462	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	12784099, 12950712, 22940546, 29396406		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	12784099, 12950712, 22940546		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of mouth	Oral cavity carcinoma	BEFREE	26400283		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	33080572, 34037089	Associate	★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	33301605	Associate	★☆☆☆☆ Found in Text Mining only