GRIP1 glutamate receptor interacting protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GRIP1provided by HGNC
Official Full Name: glutamate receptor interacting protein 1provided by HGNC
Primary source: HGNC:HGNC:18708
See related: Ensembl:ENSG00000155974 MIM:604597; AllianceGenome:HGNC:18708
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: GRIP; FRASRS3
Summary: This gene encodes a member of the glutamate receptor interacting protein family. The encoded scaffold protein binds to and mediates the trafficking and membrane organization of a number of transmembrane proteins. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, May 2010]
Annotation information: Note: GRIP1 (Gene ID: 23426) and NCOA2 (Gene ID: 10499) share the GRIP1 symbol/alias in common. GRIP1 is a widely used alternative name for nuclear receptor coactivator 2 (NCOA2), which can be confused with the official symbol for glutamate receptor-interacting protein 1 (GRIP1). [06 Jul 2018]
Expression: Broad expression in placenta (RPKM 1.6), skin (RPKM 1.5) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q14.3

Exon count:: 28

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (66347431..67069338, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (66326883..67048770, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (66741211..67463118, complement)

Chromosome 12 - NC_000012.12 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
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?

The adaptor proteins HAP1a and GRIP1 collaborate to activate the kinesin-1 isoform KIF5C.
Title: The adaptor proteins HAP1a and GRIP1 collaborate to activate the kinesin-1 isoform KIF5C.
GRIP1 is phosphorylated at an N-terminal serine cluster by cyclin-dependent kinase-9 (CDK9), which is recruited into GC-induced GR:GRIP1:CDK9 hetero-complexes, producing distinct GRE-specific GRIP1 phospho-isoforms.
Title: Glucocorticoid-induced phosphorylation by CDK9 modulates the coactivator functions of transcriptional cofactor GRIP1 in macrophages.
Data suggest that molecules in the erythropoietin-producing hepatocellular receptor B family (EPHB) / ephrinB (EFNB) signalling pathways, specifically ephrin B3 and GRIP1, are involved blood pressure regulation.
Title: The role of GRIP1 and ephrin B3 in blood pressure control and vascular smooth muscle cell contractility.
GRIP1 was identified as one of the most important differentially expressed, topologically significant proteins in the protein-protein interaction network in Alzheimer's disease.
Title: Structural insight into GRIP1-PDZ6 in Alzheimer's disease: study from protein expression data to molecular dynamics simulations.
the Trip6-GRIP1-myosin VI interaction and its regulation on F-actin network play a significant role in dendritic morphogenesis
Title: Trip6 promotes dendritic morphogenesis through dephosphorylated GRIP1-dependent myosin VI and F-actin organization.
In 15 of 590 families, we identified recessive mutations in the genes FRAS1, FREM2, GRIP1, FREM1, ITGA8, and GREM1, all of which function in the interaction of the ureteric bud and the metanephric mesenchyme.
Title: Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract.
In three unrelated families with parental consanguinity, GRIP1 mutations were found to segregate with Fraser syndrome in an autosomal recessive manner.
Title: Mutations in GRIP1 cause Fraser syndrome.
Gain-of-function glutamate receptor interacting protein 1 variants alter GluA2 recycling and surface distribution in patients with autism
Title: Gain-of-function glutamate receptor interacting protein 1 variants alter GluA2 recycling and surface distribution in patients with autism.
Observational study and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Genome-wide association study of increasing suicidal ideation during antidepressant treatment in the GENDEP project.
GRIP1 splice forms interact with gephyrin and play a role in synaptic function at GABAergic and glycinergic synapses in cultured hippocampal neurons.
Title: Gephyrin interacts with the glutamate receptor interacting protein 1 isoforms at GABAergic synapses.

Submit: New GeneRIF Correction See all GeneRIFs (16)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Fraser syndrome 3 MedGen: C4540040 OMIM: 617667 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genetic relationships between suicide attempts, suicidal ideation and major psychiatric disorders: a genome-wide association and polygenic scoring study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of smoking behaviours among Bangladeshi adults. 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

SHGC-141905 (e-PCR)
- UniSTS:182544

WI-21115 (e-PCR)
- UniSTS:82458

D12S1461 (e-PCR)
- UniSTS:3361

SHGC-83274 (e-PCR)
- UniSTS:101153

G64820 (e-PCR)
- UniSTS:164707

D12S1485 (e-PCR)
- UniSTS:153990

GRIP1_3128 (e-PCR)
- UniSTS:462223

SHGC-30860 (e-PCR)
- UniSTS:63918

WIAF-2203 (e-PCR)
- UniSTS:75199

G17669 (e-PCR)
- UniSTS:69057

G64817 (e-PCR)
- UniSTS:164803

SHGC-79745 (e-PCR)
- UniSTS:101077

SGC30924 (e-PCR)
- UniSTS:10215

SHGC-82457 (e-PCR)
- UniSTS:104426

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables beta-catenin binding	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor complex adaptor activity	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in intracellular signal transduction	NAS Non-traceable Author Statement more info	PubMed
involved_in neurotransmitter receptor transport, endosome to postsynaptic membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of neuron projection arborization	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
located_in cytosol	TAS Traceable Author Statement more info
located_in dendrite	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in neuron projection	ISS Inferred from Sequence or Structural Similarity more info
located_in perikaryon	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in postsynaptic density	IEA Inferred from Electronic Annotation more info
located_in postsynaptic membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: glutamate receptor-interacting protein 1

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_021400.2 RefSeqGene

Range

395190..726835

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001178074.2 → NP_001171545.1 glutamate receptor-interacting protein 1 isoform 2

See identical proteins and their annotated locations for NP_001171545.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an exon in the 3' coding region compared to variant 1. The resulting protein (isoform 2) is shorter but has the same N- and C- termini compared to isoform 1.

Source sequence(s)

AC078889, AI190011, AK095519, BC115393, DA801887

UniProtKB/TrEMBL

F5H4N6

Related

ENSP00000446047.1, ENST00000538211.5

Conserved Domains (1) summary

cd00992
Location:152 → 235

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
NM_001366722.1 → NP_001353651.1 glutamate receptor-interacting protein 1 isoform 3

Status: REVIEWED

Source sequence(s)

AC078889, AC090710, AC122686, AC135251

Consensus CDS

CCDS91722.1

UniProtKB/Swiss-Prot

C9JT59, Q1RLM0, Q9Y3R0

UniProtKB/TrEMBL

F5H4N6

Related

ENSP00000352780.4, ENST00000359742.9

Conserved Domains (1) summary

cd00992
Location:152 → 235

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
NM_001366723.1 → NP_001353652.1 glutamate receptor-interacting protein 1 isoform 4

Status: REVIEWED

Source sequence(s)

AC078888, AC078889, AC090710, AC135251

UniProtKB/TrEMBL

F5H4N6

Conserved Domains (1) summary

cd00992
Location:178 → 261

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
NM_001366724.1 → NP_001353653.1 glutamate receptor-interacting protein 1 isoform 5

Status: REVIEWED

Source sequence(s)

AC078888, AC078889, AC090710, AC135251

UniProtKB/TrEMBL

F5H4N6

Conserved Domains (1) summary

cd00992
Location:178 → 261

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
NM_001379345.1 → NP_001366274.1 glutamate receptor-interacting protein 1 isoform 6

Status: REVIEWED

Source sequence(s)

AC078888, AC078889, AC090710, AC135251

UniProtKB/TrEMBL

F5H4N6

Conserved Domains (1) summary

cd00992
Location:178 → 261

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
NM_001379346.1 → NP_001366275.1 glutamate receptor-interacting protein 1 isoform 7

Status: REVIEWED

Source sequence(s)

AC078889, AC090710, AC122686, AC135251

UniProtKB/TrEMBL

F5H4N6

Conserved Domains (1) summary

cd00992
Location:152 → 235

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
NM_001379347.1 → NP_001366276.1 glutamate receptor-interacting protein 1 isoform 8

Status: REVIEWED

Source sequence(s)

AC078888, AC078889, AC090710, AC135251

UniProtKB/TrEMBL

F5H4N6

Conserved Domains (1) summary

cd00992
Location:178 → 261

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
NM_001379348.1 → NP_001366277.1 glutamate receptor-interacting protein 1 isoform 9

Status: REVIEWED

Source sequence(s)

AC078888, AC078889, AC090710, AC135251

UniProtKB/TrEMBL

F5H4N6

Conserved Domains (1) summary

cd00992
Location:178 → 261

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
NM_001379349.1 → NP_001366278.1 glutamate receptor-interacting protein 1 isoform 10

Status: REVIEWED

Source sequence(s)

AC073530, AC078889, AC090710, AC135251

UniProtKB/TrEMBL

F5H4N6

Conserved Domains (1) summary

cd00992
Location:153 → 236

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
NM_001379351.1 → NP_001366280.1 glutamate receptor-interacting protein 1 isoform 11

Status: REVIEWED

Source sequence(s)

AC073530, AC078889, AC090710, AC135251

UniProtKB/TrEMBL

F5H4N6

Conserved Domains (1) summary

cd00992
Location:153 → 236

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
NM_021150.4 → NP_066973.2 glutamate receptor-interacting protein 1 isoform 1

Status: REVIEWED

Source sequence(s)

AC078889, AI190011, BC115393, DA801887

Consensus CDS

CCDS41807.1

UniProtKB/TrEMBL

F5H4N6

Related

ENSP00000381098.3, ENST00000398016.7

Conserved Domains (1) summary

cd00992
Location:152 → 235

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

66347431..67069338 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047428622.1 → XP_047284578.1 glutamate receptor-interacting protein 1 isoform X11

Related

ENSP00000439053.1, ENST00000538164.5
XM_005268757.5 → XP_005268814.1 glutamate receptor-interacting protein 1 isoform X10

UniProtKB/TrEMBL

F5H4N6

Conserved Domains (1) summary

cd00992
Location:126 → 209

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
XM_047428620.1 → XP_047284576.1 glutamate receptor-interacting protein 1 isoform X8
XM_047428619.1 → XP_047284575.1 glutamate receptor-interacting protein 1 isoform X7
XM_005268754.5 → XP_005268811.1 glutamate receptor-interacting protein 1 isoform X6

UniProtKB/TrEMBL

F5H4N6

Conserved Domains (1) summary

cd00992
Location:153 → 236

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
XM_047428617.1 → XP_047284573.1 glutamate receptor-interacting protein 1 isoform X3
XM_047428621.1 → XP_047284577.1 glutamate receptor-interacting protein 1 isoform X9
XM_047428616.1 → XP_047284572.1 glutamate receptor-interacting protein 1 isoform X2
XM_047428618.1 → XP_047284574.1 glutamate receptor-interacting protein 1 isoform X5
XM_017019100.2 → XP_016874589.1 glutamate receptor-interacting protein 1 isoform X4

UniProtKB/TrEMBL

A0A8V8TLS6, F5H4N6

Related

ENSP00000513025.1, ENST00000696989.1

Conserved Domains (1) summary

cd00992
Location:227 → 310

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
XM_017019098.2 → XP_016874587.1 glutamate receptor-interacting protein 1 isoform X1

UniProtKB/TrEMBL

F5H4N6

Conserved Domains (1) summary

cd00992
Location:227 → 310

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

Alternate T2T-CHM13v2.0

Genomic

NC_060936.1 Alternate T2T-CHM13v2.0

Range

66326883..67048770 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054371592.1 → XP_054227567.1 glutamate receptor-interacting protein 1 isoform X11
XM_054371591.1 → XP_054227566.1 glutamate receptor-interacting protein 1 isoform X10
XM_054371589.1 → XP_054227564.1 glutamate receptor-interacting protein 1 isoform X8
XM_054371588.1 → XP_054227563.1 glutamate receptor-interacting protein 1 isoform X7
XM_054371587.1 → XP_054227562.1 glutamate receptor-interacting protein 1 isoform X6
XM_054371584.1 → XP_054227559.1 glutamate receptor-interacting protein 1 isoform X3
XM_054371590.1 → XP_054227565.1 glutamate receptor-interacting protein 1 isoform X9
XM_054371583.1 → XP_054227558.1 glutamate receptor-interacting protein 1 isoform X2
XM_054371586.1 → XP_054227561.1 glutamate receptor-interacting protein 1 isoform X5
XM_054371585.1 → XP_054227560.1 glutamate receptor-interacting protein 1 isoform X4
XM_054371582.1 → XP_054227557.1 glutamate receptor-interacting protein 1 isoform X1