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] See more...

Aliases for GRIP1 Gene

Aliases for GRIP1 Gene

  • Glutamate Receptor Interacting Protein 1 2 3 5
  • Glutamate Receptor-Interacting Protein 1 3 4
  • FRASRS3 3
  • GRIP-1 4
  • GRIP1 5
  • GRIP 3

External Ids for GRIP1 Gene

Previous GeneCards Identifiers for GRIP1 Gene

  • GC12M066134
  • GC12U900033
  • GC12M066459
  • GC12M065028
  • GC12M066741
  • GC12M063792

Summaries for GRIP1 Gene

Entrez Gene Summary for GRIP1 Gene

  • 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]

GeneCards Summary for GRIP1 Gene

GRIP1 (Glutamate Receptor Interacting Protein 1) is a Protein Coding gene. Diseases associated with GRIP1 include Fraser Syndrome 3 and Fraser Syndrome 1. Among its related pathways are Transmission across Chemical Synapses and Trafficking of AMPA receptors. Gene Ontology (GO) annotations related to this gene include transcription coactivator activity and beta-catenin binding. An important paralog of this gene is GRIP2.

UniProtKB/Swiss-Prot Summary for GRIP1 Gene

  • 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 NSG1, GRIA2 and STX12 controls the intracellular fate of AMPAR and the endosomal sorting of the GRIA2 subunit toward recycling and membrane targeting (By similarity).

Gene Wiki entry for GRIP1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GRIP1 Gene

Genomics for GRIP1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GRIP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J067067 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 607.2 +0.3 256 3 CTCF POLR2A PATZ1 ZNF600 GTF2F1 ZNF341 ZNF561 KLF9 ZFX ZBTB20 GRIP1 lnc-CAND1-6 lnc-GRIP1-1 CAND1 GGTA2P ENSG00000279310 lnc-TMBIM4-7 ENSG00000257083 LOC102724421 HELB
GH12J066678 Promoter 1 EPDnew Ensembl 600 +390.2 390154 0.4 POLR2A RAD21 ZNF335 TRIM28 GFI1B MZF1 GRIP1 lnc-TMBIM4-3 RF00994-246 HELB
GH12J066859 Enhancer 0.8 Ensembl ENCODE 16.5 +208.6 208637 1.8 CTCF REST FOXA1 ZNF143 RAD21 TRIM22 ZBTB44 SMC3 ZNF384 ZNF654 GRIP1 MN309573 lnc-TMBIM4-4 lnc-GRIP1-1 HELB
GH12J067096 Enhancer 0.9 Ensembl ENCODE 12.8 -27.7 -27682 1.2 ZNF629 ZNF692 PRDM1 ZNF600 ZNF639 NFE2 TSHZ1 CEBPB OSR2 MAFG ENSG00000257083 LOC102724421 GRIP1 lnc-GRIP1-7 RAB11AP2 CAND1
GH12J066733 Enhancer 1 VISTA Ensembl ENCODE 11.3 +334.7 334701 2.6 TEAD4 ZNF692 PRDM1 YY1 SP1 PKNOX1 GRIP1 ENSG00000256072 lnc-TMBIM4-4 RF00994-246 HELB
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GRIP1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GRIP1

Top Transcription factor binding sites by QIAGEN in the GRIP1 gene promoter:
  • AREB6
  • COUP
  • COUP-TF
  • COUP-TF1
  • FOXO1
  • HNF-4alpha1
  • HNF-4alpha2
  • ITF-2
  • S8
  • Tal-1beta

Genomic Locations for GRIP1 Gene

Genomic Locations for GRIP1 Gene
chr12:66,347,431-67,069,338
(GRCh38/hg38)
Size:
721,908 bases
Orientation:
Minus strand
chr12:66,741,211-67,197,966
(GRCh37/hg19)
Size:
456,756 bases
Orientation:
Minus strand

Genomic View for GRIP1 Gene

Genes around GRIP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GRIP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GRIP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GRIP1 Gene

Proteins for GRIP1 Gene

  • Protein details for GRIP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y3R0-GRIP1_HUMAN
    Recommended name:
    Glutamate receptor-interacting protein 1
    Protein Accession:
    Q9Y3R0
    Secondary Accessions:
    • C9JT59
    • Q1RLM0

    Protein attributes for GRIP1 Gene

    Size:
    1128 amino acids
    Molecular mass:
    122422 Da
    Quaternary structure:
    • 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). Interacts with BUD23. Forms a complex with NSG1, GRIA2 and STX12; controls the intracellular fate of AMPAR and the endosomal sorting of the GRIA2 subunit toward recycling and membrane targeting. Interacts with NSG1 (By similarity).

    Three dimensional structures from OCA and Proteopedia for GRIP1 Gene

    Alternative splice isoforms for GRIP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GRIP1 Gene

Post-translational modifications for GRIP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for GRIP1 Gene

Domains & Families for GRIP1 Gene

Gene Families for GRIP1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for GRIP1 Gene

InterPro:
Blocks:
  • PDZ/DHR/GLGF domain
ProtoNet:

Suggested Antigen Peptide Sequences for GRIP1 Gene

GenScript: Design optimal peptide antigens:
  • Glutamate receptor-interacting protein 1 (GRIP1_HUMAN)
  • Lectin, galactoside-binding, soluble, 12 (Galectin 12), isoform CRA_c (Q9NZ03_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y3R0

UniProtKB/Swiss-Prot:

GRIP1_HUMAN :
  • 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.
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.
genes like me logo Genes that share domains with GRIP1: view

Function for GRIP1 Gene

Molecular function for GRIP1 Gene

UniProtKB/Swiss-Prot 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 NSG1, GRIA2 and STX12 controls the intracellular fate of AMPAR and the endosomal sorting of the GRIA2 subunit toward recycling and membrane targeting (By similarity).

Phenotypes From GWAS Catalog for GRIP1 Gene

Gene Ontology (GO) - Molecular Function for GRIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003713 transcription coactivator activity NAS --
GO:0005515 protein binding IPI 11641419
GO:0008013 beta-catenin binding TAS --
GO:0008022 protein C-terminus binding IPI --
GO:0030159 receptor signaling complex scaffold activity NAS 10197531
genes like me logo Genes that share ontologies with GRIP1: view
genes like me logo Genes that share phenotypes with GRIP1: view

Human Phenotype Ontology for GRIP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GRIP1 Gene

MGI Knock Outs for GRIP1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GRIP1

Clone Products

  • Addgene plasmids for GRIP1

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for GRIP1 Gene

Localization for GRIP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GRIP1 Gene

Cytoplasmic vesicle. Perikaryon. Cell projection, dendrite. Cytoplasm. Endomembrane system. Peripheral membrane protein. Cell junction, synapse, postsynaptic cell membrane. Cell junction, synapse, postsynaptic density. Endoplasmic reticulum membrane. Peripheral membrane protein. Note=Membrane-associated with vesicles, peri-Golgi complexes and endoplasmic reticulum. Enriched in postsynaptic plasma membrane and postsynaptic densities. {ECO:0000250 UniProtKB:P97879}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GRIP1 gene
Compartment Confidence
cytosol 5
plasma membrane 4
endoplasmic reticulum 4
extracellular 2
cytoskeleton 2
mitochondrion 2
nucleus 2
endosome 2
golgi apparatus 2
lysosome 1

Gene Ontology (GO) - Cellular Components for GRIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane ISS,TAS --
genes like me logo Genes that share ontologies with GRIP1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GRIP1 Gene

Pathways & Interactions for GRIP1 Gene

genes like me logo Genes that share pathways with GRIP1: view

Pathways by source for GRIP1 Gene

3 Qiagen pathways for GRIP1 Gene
  • Crosstalk Between CARM1 and ESRs
  • Glucocorticoid Receptor Signaling
  • Nuclear Receptor Activation by Vitamin-A

SIGNOR curated interactions for GRIP1 Gene

Activates:

Gene Ontology (GO) - Biological Process for GRIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008104 protein localization IEA --
GO:0009967 positive regulation of signal transduction IEA --
GO:0016358 dendrite development IEA --
GO:0030521 androgen receptor signaling pathway NAS --
GO:0035556 intracellular signal transduction NAS 10197531
genes like me logo Genes that share ontologies with GRIP1: view

Drugs & Compounds for GRIP1 Gene

(6) Drugs for GRIP1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for GRIP1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with GRIP1: view

Transcripts for GRIP1 Gene

mRNA/cDNA for GRIP1 Gene

11 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
19 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GRIP1

Clone Products

  • Addgene plasmids for GRIP1

Alternative Splicing Database (ASD) splice patterns (SP) for GRIP1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22 ^ 23a · 23b · 23c
SP1: -
SP2: - - - - - - - - - - - - - - - - -
SP3:
SP4:

Relevant External Links for GRIP1 Gene

GeneLoc Exon Structure for
GRIP1

Expression for GRIP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GRIP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for GRIP1 Gene

This gene is overexpressed in Fetal Brain (33.5), Placenta (10.3), and Stomach (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GRIP1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GRIP1

SOURCE GeneReport for Unigene cluster for GRIP1 Gene:

Hs.505946

Evidence on tissue expression from TISSUES for GRIP1 Gene

  • Nervous system(4.8)
  • Kidney(2.4)
  • Skin(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GRIP1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • epiglottis
  • eye
  • eyelid
  • face
  • forehead
  • head
  • inner ear
  • jaw
  • lacrimal apparatus
  • larynx
  • lip
  • mandible
  • maxilla
  • meninges
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • skull
  • tongue
  • tooth
  • vocal cord
Thorax:
  • breast
  • chest wall
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • sternum
  • thymus
  • trachea
Abdomen:
  • abdominal wall
  • intestine
  • kidney
  • small intestine
Pelvis:
  • anus
  • pelvis
  • penis
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • uterus
  • vagina
  • vulva
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • blood
  • bone marrow
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with GRIP1: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for GRIP1 Gene

Orthologs for GRIP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for GRIP1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GRIP1 30 31
  • 99.66 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia GRIP1 30 31
  • 91.06 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GRIP1 30 31
  • 91.04 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Grip1 30
  • 89 (n)
Mouse
(Mus musculus)
Mammalia Grip1 30 17 31
  • 88.93 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 78 (a)
OneToMany
-- 31
  • 76 (a)
OneToMany
-- 31
  • 64 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia GRIP1 31
  • 72 (a)
OneToOne
Chicken
(Gallus gallus)
Aves GRIP1 30 31
  • 81.3 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia GRIP1 31
  • 84 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia grip1 30
  • 76.8 (n)
Zebrafish
(Danio rerio)
Actinopterygii grip1 30 31
  • 71.82 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Grip 31
  • 6 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 12 (a)
OneToOne
Species where no ortholog for GRIP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for GRIP1 Gene

ENSEMBL:
Gene Tree for GRIP1 (if available)
TreeFam:
Gene Tree for GRIP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GRIP1: view image

Paralogs for GRIP1 Gene

Paralogs for GRIP1 Gene

(11) SIMAP similar genes for GRIP1 Gene using alignment to 14 proteins:

  • GRIP1_HUMAN
  • F5H3F9_HUMAN
  • F5H3G9_HUMAN
  • F5H424_HUMAN
  • F5H4M4_HUMAN
  • F5H4N6_HUMAN
  • F5H4P8_HUMAN
  • F5H4Q7_HUMAN
  • F5H5I0_HUMAN
  • H0YFK8_HUMAN
  • H0YFY3_HUMAN
  • H0YGF1_HUMAN
  • H0YGM4_HUMAN
  • Q9NZ03_HUMAN
genes like me logo Genes that share paralogs with GRIP1: view

Variants for GRIP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GRIP1 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
707898 Likely Benign: not provided 66,349,037(-) T/A MISSENSE_VARIANT
708952 Likely Benign: not provided 66,392,759(-) T/C SYNONYMOUS_VARIANT
710021 Benign: not provided 66,371,826(-) C/T SYNONYMOUS_VARIANT
710172 Likely Benign: not provided 66,541,880(-) C/T SYNONYMOUS_VARIANT
714266 Likely Benign: not provided 66,420,767(-) T/C SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for GRIP1 Gene

Structural Variations from Database of Genomic Variants (DGV) for GRIP1 Gene

Variant ID Type Subtype PubMed ID
dgv488e212 CNV gain 25503493
dgv489e212 CNV gain 25503493
esv24259 CNV gain 19812545
esv24958 CNV loss 19812545
esv2665166 CNV deletion 23128226
esv2674648 CNV deletion 23128226
esv2678667 CNV deletion 23128226
esv27571 CNV loss 19812545
esv2759906 CNV loss 17122850
esv28890 CNV loss 19812545
esv33058 CNV loss 17666407
esv34782 CNV loss 17911159
esv3580297 CNV loss 25503493
esv3580298 CNV loss 25503493
esv3580299 CNV loss 25503493
esv3580300 CNV loss 25503493
esv3580301 CNV loss 25503493
esv3629802 CNV loss 21293372
esv3629803 CNV loss 21293372
esv3629805 CNV loss 21293372
esv3629806 CNV loss 21293372
esv3629809 CNV loss 21293372
esv3892212 CNV loss 25118596
esv8138 OTHER inversion 19470904
nsv1047085 CNV loss 25217958
nsv1124752 CNV deletion 24896259
nsv1134238 CNV deletion 24896259
nsv1148470 CNV insertion 26484159
nsv442275 CNV loss 18776908
nsv469459 CNV gain 19166990
nsv469461 CNV loss 19166990
nsv473836 CNV novel sequence insertion 20440878
nsv474825 CNV novel sequence insertion 20440878
nsv518007 CNV loss 19592680
nsv518043 CNV loss 19592680
nsv522810 CNV loss 19592680
nsv527057 CNV loss 19592680
nsv53367 CNV deletion 16902084
nsv559206 CNV gain 21841781
nsv559207 CNV loss 21841781
nsv559208 CNV loss 21841781
nsv832447 CNV gain 17160897
nsv832449 CNV gain 17160897
nsv8985 CNV gain 18304495

Variation tolerance for GRIP1 Gene

Residual Variation Intolerance Score: 17.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.47; 55.00% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GRIP1 Gene

Human Gene Mutation Database (HGMD)
GRIP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GRIP1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GRIP1 Gene

Disorders for GRIP1 Gene

MalaCards: The human disease database

(9) MalaCards diseases for GRIP1 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search GRIP1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GRIP1_HUMAN
  • Fraser syndrome 3 (FRASRS3) [MIM:617667]: A form of Fraser syndrome, an autosomal recessive disorder characterized by cryptophthalmos, cutaneous syndactyly, and urogenital abnormalities including renal agenesis or hypoplasia. Additional features include abnormalities of the larynx, ear malformations, and facial abnormalities. {ECO:0000269 PubMed:22510445}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for GRIP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with GRIP1: view

No data available for Genatlas for GRIP1 Gene

Publications for GRIP1 Gene

  1. EphrinB ligands recruit GRIP family PDZ adaptor proteins into raft membrane microdomains. (PMID: 10197531) Brückner K … Klein R (Neuron 1999) 2 3 4 23
  2. No association of GRIP1 gene polymorphisms with schizophrenia in Chinese population. (PMID: 17303296) Tsai SJ … Hong CJ (Progress in neuro-psychopharmacology & biological psychiatry 2007) 3 23 41
  3. The carboxyl terminus of the prolactin-releasing peptide receptor interacts with PDZ domain proteins involved in alpha-amino-3-hydroxy-5-methylisoxazole-4-propionic acid receptor clustering. (PMID: 11641419) Lin SH … Civelli O (Molecular pharmacology 2001) 3 4 23
  4. Mutations in GRIP1 cause Fraser syndrome. (PMID: 22510445) Vogel MJ … van Haelst MM (Journal of medical genetics 2012) 3 4
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41

Products for GRIP1 Gene

  • Signalway ELISA kits for GRIP1

Sources for GRIP1 Gene