Gene Gene information from NCBI Gene database. Download as csv Download as pdf
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

8 Show/Hide all (8)

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

55 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

Transcription factor	Regulation	Reference
PML	Activation	23542129

23 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	152 → 235	PDZ domain	Domain
PF00595	PDZ	673 → 752	PDZ domain	Domain
PF00595	PDZ	573 → 655	PDZ domain	Domain
PF00595	PDZ	53 → 133	PDZ domain	Domain
PF00595	PDZ	252 → 333	PDZ domain	Domain
PF00595	PDZ	1004 → 1083	PDZ domain	Domain
PF17820	PDZ_6	502 → 558	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 Pathway
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)

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)

Phenotype Name	Clinical Significance	Source	Reference	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. Show/Hide Unknown Diseases (17)
ALZHEIMER DISEASE	—	GWAS catalog	39998322	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THROMBOCYTOPENIC PURPURA	—	GWAS catalog	39189922	★★★★★ ★★☆☆☆ 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	22510445, 22510445	★★★★★ ★★☆☆☆ 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	40465716	★★★★★ ★★☆☆☆ 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	31935283	★★★★★ ★★☆☆☆ 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)

Bookmark This Gene