GRID1 glutamate ionotropic receptor delta type subunit 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GRID1provided by HGNC
Official Full Name: glutamate ionotropic receptor delta type subunit 1provided by HGNC
Primary source: HGNC:HGNC:4575
See related: Ensembl:ENSG00000182771 MIM:610659; AllianceGenome:HGNC:4575
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GluD1; GluD1-b
Summary: 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]
Expression: Biased expression in brain (RPKM 6.7), thyroid (RPKM 3.7) and 12 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q23.1-q23.2

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (85599552..86366795, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (86479694..87247328, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (87359309..88126552, complement)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants.
Title: Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants.
GRID1 expression is downregulated in both MECP2- and CDKL5-mutated iPS cells and upregulated in neuronal precursors and mature neurons.
Title: GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells.
GRID1 genotype is related to gray matter variation in prefrontal and anterior thalamic brain areas in healthy subjects, but not in schizophrenia patients, indicating a potential role in thalamo-cortical functioning.
Title: Glutamate receptor δ 1 (GRID1) genetic variation and brain structure in schizophrenia.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data.
The results of this study suggested that genetic variants in the GRID1 transcriptional regulatory region may play a role in the etiology of schizophrenia.
Title: Dissection of phenotype reveals possible association between schizophrenia and Glutamate Receptor Delta 1 (GRID1) gene promoter.
Observational study of gene-disease association. (HuGE Navigator)
Title: Dissection of phenotype reveals possible association between schizophrenia and Glutamate Receptor Delta 1 (GRID1) gene promoter.
results strongly support previously reported association studies, implicating GRID1 in the etiology of schizophrenia
Title: A case-control association study between the GRID1 gene and schizophrenia in the Chinese Northern Han population.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2011-12-21) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2011-12-21) ClinGen Genome Curation Page

EBI GWAS Catalog

Description
A genome-wide association study identifies new susceptibility loci for esophageal adenocarcinoma and Barrett's esophagus. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic variants associated with disordered eating. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies new susceptibility loci for posttraumatic stress disorder. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortiu EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of periodontal pathogen colonization. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of survival in patients with pancreatic adenocarcinoma. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D10S2224 (e-PCR)
- UniSTS:11268

SHGC-144945 (e-PCR)
- UniSTS:174344

SHGC-148036 (e-PCR)
- UniSTS:176165

SHGC-149062 (e-PCR)
- UniSTS:173099

G20570 (e-PCR)
- UniSTS:77103

G28626 (e-PCR)
- UniSTS:76100

SHGC-148109 (e-PCR)
- UniSTS:176199

NoName (e-PCR)
- UniSTS:37720

SHGC-147860 (e-PCR)
- UniSTS:172889

GRID1_3289.2 (e-PCR)
- UniSTS:468062

D10S1698 (e-PCR), detects polymorphism
- UniSTS:13927

SHGC-152438 (e-PCR)
- UniSTS:177512

RH123157 (e-PCR)
- UniSTS:135538

SHGC-81562 (e-PCR)
- UniSTS:103321

SHGC-111404 (e-PCR)
- UniSTS:168352

G17462 (e-PCR)
- UniSTS:50863

SHGC-147402 (e-PCR)
- UniSTS:175792

D10S1579 (e-PCR)
- UniSTS:73906

SHGC-148651 (e-PCR)
- UniSTS:182231

SHGC-148359 (e-PCR)
- UniSTS:176348

D10S1769 (e-PCR)
- UniSTS:59873

SHGC-110567 (e-PCR)
- UniSTS:167906

BAZ1B_3920 (e-PCR)
- UniSTS:462055

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables AMPA glutamate receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables G protein-coupled receptor activity involved in regulation of postsynaptic membrane potential	IDA Inferred from Direct Assay more info	PubMed
enables GABA receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IBA Inferred from Biological aspect of Ancestor more info
enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in glutamate receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in modulation of chemical synaptic transmission	IBA Inferred from Biological aspect of Ancestor more info
involved_in monoatomic ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of synaptic plasticity	IDA Inferred from Direct Assay more info	PubMed
involved_in phospholipase C-activating G protein-coupled receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of postsynapse organization	IEA Inferred from Electronic Annotation more info
involved_in regulation of postsynaptic membrane neurotransmitter receptor levels	IEA Inferred from Electronic Annotation more info
involved_in regulation of postsynaptic membrane potential	IEA Inferred from Electronic Annotation more info
involved_in social behavior	ISS Inferred from Sequence or Structural Similarity more info
involved_in synaptic signaling via neuropeptide	IDA Inferred from Direct Assay more info	PubMed
involved_in synaptic signaling via neuropeptide	ISS Inferred from Sequence or Structural Similarity more info
involved_in synaptic transmission, glutamatergic	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of AMPA glutamate receptor complex	IBA Inferred from Biological aspect of Ancestor more info
located_in GABA-ergic synapse	IEA Inferred from Electronic Annotation more info
is_active_in dendritic spine	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular exosome	HDA more info	PubMed
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in postsynaptic density membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in postsynaptic density membrane	ISS Inferred from Sequence or Structural Similarity more info
is_active_in postsynaptic membrane	IDA Inferred from Direct Assay more info	PubMed
located_in postsynaptic membrane	ISS Inferred from Sequence or Structural Similarity more info
part_of trans-synaptic protein complex	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: glutamate receptor ionotropic, delta-1

Names: gluR delta-1 subunit; glutamate receptor delta-1 subunit

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_011875.1 RefSeqGene

Range

4699..771942

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_017551.3 → NP_060021.1 glutamate receptor ionotropic, delta-1 precursor

See identical proteins and their annotated locations for NP_060021.1

Status: REVIEWED

Source sequence(s)

AB033046, AC022028, AK127168, AK293104, AL844892, DR001156

Consensus CDS

CCDS31236.1

UniProtKB/Swiss-Prot

B3KXD5, B7Z7L0, Q8IXT3, Q9ULK0

UniProtKB/TrEMBL

A8KAN9

Related

ENSP00000330148.7, ENST00000327946.12

Conserved Domains (4) summary

cd06392
Location:25 → 423

PBP1_iGluR_delta_1; N-terminal leucine/isoleucine/valine-binding protein (LIVBP)-like domain of the delta1 receptor of an orphan glutamate receptor family

cd13730
Location:436 → 806

PBP2_iGluR_delta_1; The ligand-binding domain of an orphan ionotropic glutamate receptor delta-1, a member of the type 2 periplasmic-binding fold protein superfamily

pfam00060
Location:564 → 841

Lig_chan; Ligand-gated ion channel

pfam01094
Location:41 → 400

ANF_receptor; Receptor family ligand binding region

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000010.11 Reference GRCh38.p14 Primary Assembly

Range

85599552..86366795 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047425122.1 → XP_047281078.1 glutamate receptor ionotropic, delta-1 isoform X1
XM_047425123.1 → XP_047281079.1 glutamate receptor ionotropic, delta-1 isoform X1

Alternate T2T-CHM13v2.0

Genomic

NC_060934.1 Alternate T2T-CHM13v2.0

Range

86479694..87247328 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054365665.1 → XP_054221640.1 glutamate receptor ionotropic, delta-1 isoform X1
XM_054365666.1 → XP_054221641.1 glutamate receptor ionotropic, delta-1 isoform X1