• Gene id: 2894

Gene Summary

• Gene Symbol: GRID1   Gene   UCSC   Ensembl
• Aliases: GluD1
• Gene name: glutamate ionotropic receptor delta type subunit 1
• Alternate names: glutamate receptor ionotropic, delta-1, gluR delta-1 subunit, glutamate receptor delta-1 subunit,
• Gene location: 10q23.1-q23.2 (86366794: 85599551)     Exons: 17     NC_000010.11
• Gene summary(Entrez): This gene encodes a subunit of glutamate receptor channels. These channels mediate most of the fast excitatory synaptic transmission in the central nervous system and play key roles in synaptic plasticity.[provided by RefSeq, Jan 2009]
• OMIM: 151530

SNPs

rs6080550

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.1778944C>G
NC_000020.11   g.1778944C>T
NC_000020.10   g.1759590C>G
NC_000020.10   g.1759590C>T|SEQ=[C/G/T]|GENE=LOC100289473

Protein Summary

• Protein general information: Q9ULK0  
  • Name: Glutamate receptor ionotropic, delta 1 (GluD1) (GluR delta 1 subunit)
  • Length: 1009  
  • Mass: 112131
• Sequence:

  MEALTLWLLPWICQCVSVRADSIIHIGAIFEENAAKDDRVFQLAVSDLSLNDDILQSEKITYSIKVIEANNPFQA
  VQEACDLMTQGILALVTSTGCASANALQSLTDAMHIPHLFVQRNPGGSPRTACHLNPSPDGEAYTLASRPPVRLN
  DVMLRLVTELRWQKFVMFYDSEYDIRGLQSFLDQASRLGLDVSLQKVDKNISHVFTSLFTTMKTEELNRYRDTLR
  RAILLLSPQGAHSFINEAVETNLASKDSHWVFVNEEISDPEILDLVHSALGRMTVVRQIFPSAKDNQKCTRNNHR
  ISSLLCDPQEGYLQMLQISNLYLYDSVLMLANAFHRKLEDRKWHSMASLNCIRKSTKPWNGGRSMLDTIKKGHIT
  GLTGVMEFREDSSNPYVQFEILGTTYSETFGKDMRKLATWDSEKGLNGSLQERPMGSRLQGLTLKVVTVLEEPFV
  MVAENILGQPKRYKGFSIDVLDALAKALGFKYEIYQAPDGRYGHQLHNTSWNGMIGELISKRADLAISAITITPE
  RESVVDFSKRYMDYSVGILIKKPEEKISIFSLFAPFDFAVWACIAAAIPVVGVLIFVLNRIQAVRAQSAAQPRPS
  ASATLHSAIWIVYGAFVQQGGESSVNSMAMRIVMGSWWLFTLIVCSSYTANLAAFLTVSRMDNPIRTFQDLSKQV
  EMSYGTVRDSAVYEYFRAKGTNPLEQDSTFAELWRTISKNGGADNCVSSPSEGIRKAKKGNYAFLWDVAVVEYAA
  LTDDDCSVTVIGNSISSKGYGIALQHGSPYRDLFSQRILELQDTGDLDVLKQKWWPHMGRCDLTSHASAQADGKS
  LKLHSFAGVFCILAIGLLLACLVAALELWWNSNRCHQETPKEDKEVNLEQVHRRMNSLMDEDIAHKQISPASIEL
  SALEMGGLAPTQTLEPTREYQNTQLSVSTFLPEQSSHGTSRTLSSGPSSNLPLPLSSSATMPSMQCKHRSPNGGL
  FRQSPVKTPIPMSFQPVPGGVLPEALDTSHGTSI

• Structural information:
  • Interpro: IPR001828  IPR019594  IPR001508  IPR001320  IPR028082  
  • STRING: ENSP00000330148
• Other Databases: GeneCards:  GRID1  Malacards:  GRID1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1904315	transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential	IBA	molecular function
GO:0098839	postsynaptic density membrane	IBA	cellular component
GO:0038023	signaling receptor activity	IBA	molecular function
GO:0035249	synaptic transmission, glutamatergic	IBA	biological process
GO:0015276	ligand-gated ion channel activity	IBA	molecular function
GO:0050804	modulation of chemical synaptic transmission	IBA	biological process
GO:0045211	postsynaptic membrane	IBA	cellular component
GO:0008066	glutamate receptor activity	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0004970	ionotropic glutamate receptor activity	IEA	molecular function
GO:0015276	ligand-gated ion channel activity	IEA	molecular function
GO:0038023	signaling receptor activity	IEA	molecular function
GO:0005216	ion channel activity	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0099061	integral component of postsynaptic density membrane	IEA	cellular component
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0035176	social behavior	IEA	biological process
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0035235	ionotropic glutamate receptor signaling pathway	IEA	biological process
GO:0034220	ion transmembrane transport	IEA	biological process
GO:0034220	ion transmembrane transport	IEA	biological process
GO:0034220	ion transmembrane transport	IEA	biological process
GO:0060078	regulation of postsynaptic membrane potential	IEA	biological process
GO:0035176	social behavior	ISS	biological process
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04080	Neuroactive ligand-receptor interaction

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
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