• Gene id: 9229

Gene Summary

• Gene Symbol: DLGAP1   Gene   UCSC   Ensembl
• Aliases: DAP-1, DAP-1-ALPHA, DAP-1-BETA, DAP1, DLGAP1A, DLGAP1B, GKAP, SAPAP1
• Gene name: DLG associated protein 1
• Alternate names: disks large-associated protein 1, PSD-95/SAP90 binding protein 1, SAP90/PSD-95-associated protein 1, discs large homolog associated protein 1, guanylate kinase-associated protein,
• Gene location: 18p11.31 (4455440: 3496031)     Exons: 21     NC_000018.10
• OMIM: 605445

Protein Summary

• Protein general information: O14490  
  • 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)
  • Length: 977  
  • Mass: 108873
  • Tissue specificity: Expressed in brain.
• Sequence:

  MKGLSGSRSHHHGVTCDSACDSLSHHSDRKPYLLSPVEHHPADHPYYTQRNSFQAECVGPFSDPLASSTFPRRHY
  TSQQELKDECALVPRTLATKANRIPANLLDQFERQLPLSRDGYHTLQYKRTAVEHRSDSPGRIRHLVHSVQKLFT
  KSHSLEGPSKGSVNGGKASPDEAQAARYGKRSKSKERRAEPKARPSTSPGWWSSDDNLDGDMCIYHAPSGVMTMG
  RCPDRSASQYFLEAYNTISEQAVKASRSNNDVKCSTCANLPVSLDTPLLKKSAWSSTLTVSRAREVYQKASVNMD
  QAMVKSESCQQERSCQYLQVPQDEWTGYTPRGKDDEIPCRRMRSGSYIKAMGDEDSGDSDTSPKPSPKVAARRES
  YLKATQPSLTELTTLKISNEHSPKLQIRSHSYLRAVSEVSINRSLDSLDPAGLLTSPKFRSRNESYMRAMSTISQ
  VSEMEVNGQFESVCESVFSELESQAVEALDLPMPGCFRMRSHSYVRAIEKGCSQDDECVSLRSSSPPRTTTTVRT
  IQSSTVSSCITTYKKTPPPVPPRTTTKPFISITAQSSTESAQDAYMDGQGQRGDIISQSGLSNSTESLDSMKALT
  AAIEAANAQIHGPASQHMGNNTATVTTTTTIATVTTEDRKKDHFKKNRCLSIGIQVDDAEEPDKTGENKAPSKFQ
  SVGVQVEEEKCFRRFTRSNSVTTAVQADLDFHDNLENSLESIEDNSCPGPMARQFSRDASTSTVSIQGSGNHYHA
  CAADDDFDTDFDPSILPPPDPWIDSITEDPLEAVQRSVCHRDGHWFLKLLQAERDRMEGWCQQMEREERENNLPE
  DILGKIRTAVGSAQLLMAQKFYQFRELCEENLNPNAHPRPTSQDLAGFWDMLQLSIENISMKFDELHQLKANNWK
  QMDPLDKKERRAPPPVPKKPAKGPAPLIRERSLESSQRQEARKRLMAAKRAASVRQNSATESAESIEIYIPEAQT
  RL

• Structural information:
  • Interpro: IPR030524  IPR005026  
  • PDB: 5YPO
  • PDBsum: 5YPO
  • STRING: ENSP00000316377
• Other Databases: GeneCards:  DLGAP1  Malacards:  DLGAP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0044877	protein-containing complex binding	ISS	molecular function
GO:0007268	chemical synaptic transmission	IEA	biological process
GO:0023052	signaling	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0007268	chemical synaptic transmission	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045202	synapse	IEA	cellular component
GO:0014069	postsynaptic density	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0014069	postsynaptic density	IEA	cellular component
GO:0005575	cellular_component	ND	cellular component
GO:0007268	chemical synaptic transmission	NAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04724	Glutamatergic synapse

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq