Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	23426
Gene name	Glutamate receptor interacting protein 1
Gene symbol	GRIP1
Synonyms (NCBI Gene)	FRASRS3GRIP
Chromosome	12
Chromosome location	12q14.3
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

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SNP ID	Visualize variation	Clinical significance	Consequence
rs35499444	TT>-,T,TTT,TTTT	Conflicting-interpretations-of-pathogenicity, benign	3 prime UTR variant
rs144494437	A>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs187691546	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs199768740	C>T	Likely-benign, likely-pathogenic	Missense variant, coding sequence variant
rs397514485	C>G	Pathogenic	Splice donor variant
rs397514486	CTTT>-	Pathogenic	Frameshift variant, coding sequence variant
rs758192469	A>G,T	Likely-pathogenic	Genic upstream transcript variant, synonymous variant, intron variant, stop gained, coding sequence variant
rs1060499774	C>A	Likely-pathogenic	Missense variant, coding sequence variant

Show/Hide all (55)

miRTarBase ID	miRNA	Experiments
MIRT1034718	hsa-miR-1208	CLIP-seq
MIRT1034719	hsa-miR-2355-3p	CLIP-seq
MIRT1034720	hsa-miR-3119	CLIP-seq
MIRT1034721	hsa-miR-34b	CLIP-seq
MIRT1034722	hsa-miR-3529	CLIP-seq
MIRT1034723	hsa-miR-3668	CLIP-seq
MIRT1034724	hsa-miR-370	CLIP-seq
MIRT1034725	hsa-miR-379	CLIP-seq
MIRT1034726	hsa-miR-3935	CLIP-seq
MIRT1034727	hsa-miR-4451	CLIP-seq
MIRT1034728	hsa-miR-452	CLIP-seq
MIRT1034729	hsa-miR-4646-3p	CLIP-seq
MIRT1034730	hsa-miR-4650-3p	CLIP-seq
MIRT1034731	hsa-miR-4668-3p	CLIP-seq
MIRT1034732	hsa-miR-4676-3p	CLIP-seq
MIRT1034733	hsa-miR-511	CLIP-seq
MIRT1034734	hsa-miR-548c-3p	CLIP-seq
MIRT1034735	hsa-miR-676	CLIP-seq
MIRT1034736	hsa-miR-1193	CLIP-seq
MIRT1034737	hsa-miR-1290	CLIP-seq
MIRT1034738	hsa-miR-1304	CLIP-seq
MIRT1034739	hsa-miR-1323	CLIP-seq
MIRT1034740	hsa-miR-137	CLIP-seq
MIRT1034741	hsa-miR-155	CLIP-seq
MIRT1034742	hsa-miR-2114	CLIP-seq
MIRT1034743	hsa-miR-29a	CLIP-seq
MIRT1034744	hsa-miR-29b	CLIP-seq
MIRT1034745	hsa-miR-29c	CLIP-seq
MIRT1034746	hsa-miR-3126-5p	CLIP-seq
MIRT1034747	hsa-miR-3144-3p	CLIP-seq
MIRT1034748	hsa-miR-365	CLIP-seq
MIRT1034723	hsa-miR-3668	CLIP-seq
MIRT1034726	hsa-miR-3935	CLIP-seq
MIRT1034749	hsa-miR-4289	CLIP-seq
MIRT1034750	hsa-miR-4327	CLIP-seq
MIRT1034751	hsa-miR-4419a	CLIP-seq
MIRT1034752	hsa-miR-4510	CLIP-seq
MIRT1034753	hsa-miR-4530	CLIP-seq
MIRT1034754	hsa-miR-4536	CLIP-seq
MIRT1034755	hsa-miR-4662a-3p	CLIP-seq
MIRT1034756	hsa-miR-4775	CLIP-seq
MIRT1034757	hsa-miR-486-5p	CLIP-seq
MIRT1034758	hsa-miR-548o	CLIP-seq
MIRT1034759	hsa-miR-569	CLIP-seq
MIRT1034760	hsa-miR-590-3p	CLIP-seq
MIRT1034761	hsa-miR-607	CLIP-seq
MIRT1034762	hsa-miR-767-5p	CLIP-seq
MIRT1034763	hsa-miR-875-5p	CLIP-seq
MIRT1920470	hsa-miR-3123	CLIP-seq
MIRT1920471	hsa-miR-3919	CLIP-seq
MIRT1920472	hsa-miR-4477b	CLIP-seq
MIRT2006855	hsa-miR-197	CLIP-seq
MIRT2239343	hsa-miR-218	CLIP-seq
MIRT2239344	hsa-miR-636	CLIP-seq
MIRT2388781	hsa-miR-4699-3p	CLIP-seq

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Transcription factor	Regulation	Reference
PML	Activation	23542129

Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	11641419, 17545996, 32296183, 35271311, 36931259
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0008013	Function	Beta-catenin binding	TAS
GO:0012505	Component	Endomembrane system	IEA
GO:0014069	Component	Postsynaptic density	IEA
GO:0016020	Component	Membrane	IEA
GO:0030159	Function	Signaling receptor complex adaptor activity	NAS	10197531
GO:0030425	Component	Dendrite	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0035556	Process	Intracellular signal transduction	NAS	10197531
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	ISS
GO:0043204	Component	Perikaryon	IEA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0098887	Process	Neurotransmitter receptor transport, endosome to postsynaptic membrane	IBA
GO:0150012	Process	Positive regulation of neuron projection arborization	ISS

MIM	HGNC	e!Ensembl
604597	18708	ENSG00000155974

Q9Y3R0

Protein name

Glutamate receptor-interacting protein 1 (GRIP-1)

Protein function

May play a role as a localized scaffold for the assembly of a multiprotein signaling complex and as mediator of the trafficking of its binding partners at specific subcellular location in neurons (PubMed:10197531). Through complex formation with

PDB

2JIL

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00595	PDZ	53 → 133	PDZ domain	Domain
PF00595	PDZ	152 → 235	PDZ domain	Domain
PF00595	PDZ	252 → 333	PDZ domain	Domain
PF17820	PDZ_6	502 → 558	PDZ domain	Domain
PF00595	PDZ	573 → 655	PDZ domain	Domain
PF00595	PDZ	673 → 752	PDZ domain	Domain
PF00595	PDZ	1004 → 1083	PDZ domain	Domain

Sequence

MIAVSFKCRCQILRRLTKDESPYTKSASQTKPPDGALAVRRQSIPEEFKGSTVVELMKKE
GTTLGLTVSGGIDKDGKPRVSNLRQGGIAARSDQLDVGDYIKAVNGINLAKFRHDEIISL
LKNVGERVVLEVEYELPPVSVQGSSVIFRTVEVTLHKEGNTFGFVIRGGAHDDRNKSRPV
VITCVRPGGPADREGTIKPGDRLLSVDGIRLLGTTHAEAMSILKQCGQEAALLIEYDVSV
MDSVATASGPLLVEVAKTPGASLGVALTTSMCCNKQVIVIDKIKSASIADRCGALHVGDH
ILSIDGTSMEYCTLAEATQFLANTTDQVKLEILPHHQTRLALKGPDHVKIQRSDRQLTWD
SWASNHSSLHTNHHYNTYHPDHCRVPALTFPKAPPPNSPPALVSSSFSPTSMSAYSLSSL
NMGTLPRSLYSTSPRGTMMRRRLKKKDFKSSLSLASSTVGLAGQVVHTETTEVVLTADPV
TGFGIQLQGSVFATETLSSPPLISYIEADSPAERCGVLQIGDRVMAINGIPTEDSTFEEA
SQLLRDSSITSKVTLEIEFDVAESVIPSSGTFHVKLPKKHNVELGITISSPSSRKPGDPL
VISDIKKGSVAHRTGTLELGDKLLAIDNIRLDNCSMEDAVQILQQCEDLVKLKIRKDEDN
SDEQESSGAIIYTVELKRYGGPLGITISGTEEPFDPIIISSLTKGGLAERTGAIHIGDRI
LAINSSSLKGKPLSEAIHLLQMAGETVTLKIKKQTDAQSASSPKKFPISSHLSDLGDVEE
DSSPAQKPGKLSDMYPSTVPSVDSAVDSWDGSAIDTSYGTQGTSFQASGYNFNTYDWRSP
KQRGSLSPVTKPRSQTYPDVGLSYEDWDRSTASGFAGAADSAETEQEENFWSQALEDLET
CGQSGILRELEEKADRRVSLRNMTLLATIMSGSTMSLNHEAPTPRSQLGRQASFQERSSS
RPHYSQTTRSNTLPSDVGRKSVTLRKMKQEIKEIMSPTPVELHKVTLYKDSDMEDFGFSV
ADGLLEKGVYVKNIRPAGPGDLGGLKPYDRLLQVNHVRTRDFDCCLVVPLIAESGNKLDL
VISRNPLASQKSIDQQSLPGDWSEQNSAFFQQPSHGGNLETREPTNTL

Sequence length

1128

Interactions

View interactions

	Reactome
			Trafficking of GluR2-containing AMPA receptors

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)

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal brain morphology	Likely pathogenic	rs1060499774	RCV000454347	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fraser syndrome 1	Likely pathogenic	rs2504100355, rs772813442	RCV002510453 RCV005240853	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fraser syndrome 3	Likely pathogenic; Pathogenic	rs1565756770, rs397514485, rs397514486, rs758192469, rs2057189303	RCV005003681 RCV000030648 RCV000030649 RCV003992382 RCV001251009	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (17)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THROMBOCYTOPENIC PURPURA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRYPTOPHTHALMOS SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FRASER SYNDROME	—	CTD, Orphanet CTD, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GRIP1-related disorder	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LYMPHOID LEUKEMIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE MYELOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

GRIP1 (glutamate receptor interacting protein 1)