Human Gene GRIP1 (ENST00000398016.7) from GENCODE V44
  Description: Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA. (from RefSeq NM_021150)
RefSeq Summary (NM_021150): 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]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.
Gencode Transcript: ENST00000398016.7
Gencode Gene: ENSG00000155974.14
Transcript (Including UTRs)
   Position: hg38 chr12:66,347,431-66,678,973 Size: 331,543 Total Exon Count: 24 Strand: -
Coding Region
   Position: hg38 chr12:66,349,019-66,678,904 Size: 329,886 Coding Exon Count: 24 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:66,347,431-66,678,973)mRNA (may differ from genome)Protein (1076 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
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HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: GRIP1_HUMAN
DESCRIPTION: RecName: Full=Glutamate receptor-interacting protein 1; Short=GRIP-1;
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.
SUBUNIT: Interacts with EPHA7, EPHB2, KIF5A, KIF5B, KIF5C, GRIA2, GRIA3, GRIPAP1/GRASP1, PPFIA1, PPFIA4, FRAS1, PLCD4, PTPRF and liprins-alpha. Can form homomultimers or heteromultimers with GRIP2. Forms a ternary complex with GRIA2 and CSPG4 (By similarity). Interacts with ATAD1 in an ATP-dependent manner. ATAD1-catalyzed ATP hydrolysis disrupts binding to ATAD1 and to GRIA2 and leads to AMPAR complex disassembly (By similarity). Interacts with EFNB1, EFNB3 and the C-terminal tail of PRLHR. Interacts with SLC30A9 (By similarity).
SUBCELLULAR LOCATION: Cytoplasmic vesicle. Endoplasmic reticulum. Cell junction, synapse, postsynaptic cell membrane (By similarity). Note=Cytoplasmic and membrane-associated with vesicles, peri-Golgi complexes and endoplasmic reticulum. Enriched in postsynaptic plasma membrane and postsynaptic densities (By similarity).
DOMAIN: PDZ 6 mediates interaction with the PDZ recognition motif of EFNB1 and EPHB2 and with the C-terminus of PPFIA1 and PPFIA4. PDZ 4 and PDZ 5 mediate interaction with the C-terminus of GRIA2 and GRIA3. PDZ 4, PDZ 5 and PDZ 6 mediate homomultimers. PDZ 7 mediates interaction with PDZ domain of GRASP1. PDZ 7 domain binds CSPG4. PDZ 6 mediates interaction with the C-terminus of liprins- alpha. PDZ 1, PDZ 2 and PDZ 3 mediate interaction with the PDZ- binding motif of FRAS1 (By similarity). PDZ 4 and PDZ 5 mediate interaction with PRLHR.
SIMILARITY: Contains 7 PDZ (DHR) domains.

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: GRIP1
Diseases sorted by gene-association score: fraser syndrome 3* (500), cryptophthalmos* (427), fraser syndrome 1* (246), grip1-related fraser syndrome* (100), chromosome 2q35 duplication syndrome (9), glucocorticoid resistance (8), retinitis pigmentosa 55 (8), renal hypodysplasia/aplasia 1 (7)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 2.58 RPKM in Pituitary
Total median expression: 40.02 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -18.3069-0.265 Picture PostScript Text
3' UTR -336.401588-0.212 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001478 - PDZ

Pfam Domains:
PF00595 - PDZ domain (Also known as DHR or GLGF)

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2JIL - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9Y3R0
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003713 transcription coactivator activity
GO:0005515 protein binding
GO:0008013 beta-catenin binding
GO:0008022 protein C-terminus binding
GO:0030159 receptor signaling complex scaffold activity
GO:0035259 glucocorticoid receptor binding
GO:0050681 androgen receptor binding

Biological Process:
GO:0008104 protein localization
GO:0016358 dendrite development
GO:0030521 androgen receptor signaling pathway
GO:0035556 intracellular signal transduction
GO:0045893 positive regulation of transcription, DNA-templated

Cellular Component:
GO:0005783 endoplasmic reticulum
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0030054 cell junction
GO:0030425 dendrite
GO:0031410 cytoplasmic vesicle
GO:0043005 neuron projection
GO:0045121 membrane raft
GO:0045202 synapse
GO:0045211 postsynaptic membrane
GO:0055037 recycling endosome


-  Descriptions from all associated GenBank mRNAs
  AJ133439 - Homo sapiens mRNA for GRIP1 protein.
KJ898488 - Synthetic construct Homo sapiens clone ccsbBroadEn_07882 GRIP1 gene, encodes complete protein.
BC115393 - Homo sapiens glutamate receptor interacting protein 1, mRNA (cDNA clone MGC:134841 IMAGE:40053971), complete cds.
BC115394 - Homo sapiens glutamate receptor interacting protein 1, mRNA (cDNA clone MGC:134842 IMAGE:40053972), complete cds.
AK095519 - Homo sapiens cDNA FLJ38200 fis, clone FCBBF1000377, highly similar to Homo sapiens mRNA for GRIP1 protein.
AK295565 - Homo sapiens cDNA FLJ59282 partial cds, highly similar to Glutamate receptor-interacting protein 1.
AK307576 - Homo sapiens cDNA, FLJ97524.
BC029871 - Homo sapiens, clone IMAGE:5169851, mRNA.
JD511326 - Sequence 492350 from Patent EP1572962.
JD264934 - Sequence 245958 from Patent EP1572962.
JD471299 - Sequence 452323 from Patent EP1572962.
JD110729 - Sequence 91753 from Patent EP1572962.
JD357718 - Sequence 338742 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9Y3R0 (Reactome details) participates in the following event(s):

R-HSA-416639 Trafficking of GluR2-containing AMPA receptors to extrasynaptic sites
R-HSA-421007 Endocytosis of Ca impermeable AMPA receptors
R-HSA-416985 Trafficking of GluR2-containing AMPA receptors to synapse
R-HSA-416993 Trafficking of GluR2-containing AMPA receptors
R-HSA-399719 Trafficking of AMPA receptors
R-HSA-399721 Glutamate binding, activation of AMPA receptors and synaptic plasticity
R-HSA-112314 Neurotransmitter receptors and postsynaptic signal transmission
R-HSA-112315 Transmission across Chemical Synapses
R-HSA-112316 Neuronal System

-  Other Names for This Gene
  Alternate Gene Symbols: C9JT59, ENST00000398016.1, ENST00000398016.2, ENST00000398016.3, ENST00000398016.4, ENST00000398016.5, ENST00000398016.6, GRIP1_HUMAN, NM_021150, Q1RLM0, Q9Y3R0, uc001stk.1, uc001stk.2, uc001stk.3, uc001stk.4
UCSC ID: ENST00000398016.7
RefSeq Accession: NM_021150
Protein: Q9Y3R0 (aka GRIP1_HUMAN or GRI1_HUMAN)
CCDS: CCDS41807.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.