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

    Gene ID: 23426, updated on 28-Oct-2024

    Summary

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    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

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    See GRIP1 in Genome Data Viewer
    Location:
    12q14.3
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (66347431..67069338, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (66326883..67048770, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (66741211..67463118, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6616 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6617 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6618 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6619 Neighboring gene small nucleolar RNA U13 Neighboring gene uncharacterized LOC105369811 Neighboring gene DNA helicase B Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:66801605-66802105 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:66890797-66891645 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:66891646-66892493 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6620 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:66978252-66978488 Neighboring gene oxysterol binding protein like 9 pseudogene 4 Neighboring gene oxysterol binding protein like 9 pseudogene 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6621 Neighboring gene NANOG hESC enhancer GRCh37_chr12:67052705-67053206 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4638 Neighboring gene Sharpr-MPRA regulatory region 5579 Neighboring gene VISTA enhancer hs1498 Neighboring gene NANOG hESC enhancer GRCh37_chr12:67175965-67176466 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:67224101-67224271 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:67279097-67279597 Neighboring gene uncharacterized LOC124902956 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6622 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:67461160-67461666 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:67461667-67462171 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4639 Neighboring gene uncharacterized LOC102724421 Neighboring gene RAB11A, member RAS oncogene family pseudogene 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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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    Related articles in PubMed

    1. Mutations in GRIP1 cause Fraser syndrome. Vogel MJ, et al. J Med Genet, 2012 May. PMID 22510445
    2. Structural insight into GRIP1-PDZ6 in Alzheimer's disease: study from protein expression data to molecular dynamics simulations. Chatterjee P, et al. J Biomol Struct Dyn, 2017 Aug. PMID 27425598
    3. No association of GRIP1 gene polymorphisms with schizophrenia in Chinese population. Tsai SJ, et al. Prog Neuropsychopharmacol Biol Psychiatry, 2007 Apr 13. PMID 17303296
    4. The first adolescent case of Fraser syndrome 3, with a novel nonsense variant in GRIP1. Koprulu M, et al. Am J Med Genet A, 2021 Jun. PMID 33709629
    5. Supramodular nature of GRIP1 revealed by the structure of its PDZ12 tandem in complex with the carboxyl tail of Fras1. Long J, et al. J Mol Biol, 2008 Feb 1. PMID 18155042

    See all (93) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. 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.
    10. 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
    Genome-wide association study of smoking behaviours among Bangladeshi adults.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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

    1. NG_021400.2 RefSeqGene

      Range
      395190..726835
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. 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) ...

    2. 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) ...

    3. 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) ...

    4. 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) ...

    5. 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) ...

    6. 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) ...

    7. 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) ...

    8. 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) ...

    9. 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) ...

    10. 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) ...

    11. 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_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      66347431..67069338 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      Related
      ENSP00000439053.1, ENST00000538164.5

    2. 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) ...

    3. XM_047428620.1 → XP_047284576.1  glutamate receptor-interacting protein 1 isoform X8

    4. XM_047428619.1 → XP_047284575.1  glutamate receptor-interacting protein 1 isoform X7

    5. 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) ...

    6. XM_047428617.1 → XP_047284573.1  glutamate receptor-interacting protein 1 isoform X3

    7. XM_047428621.1 → XP_047284577.1  glutamate receptor-interacting protein 1 isoform X9

    8. XM_047428616.1 → XP_047284572.1  glutamate receptor-interacting protein 1 isoform X2

    9. XM_047428618.1 → XP_047284574.1  glutamate receptor-interacting protein 1 isoform X5

    10. 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) ...

    11. 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

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      66326883..67048770 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371592.1 → XP_054227567.1  glutamate receptor-interacting protein 1 isoform X11

    2. XM_054371591.1 → XP_054227566.1  glutamate receptor-interacting protein 1 isoform X10

    3. XM_054371589.1 → XP_054227564.1  glutamate receptor-interacting protein 1 isoform X8

    4. XM_054371588.1 → XP_054227563.1  glutamate receptor-interacting protein 1 isoform X7

    5. XM_054371587.1 → XP_054227562.1  glutamate receptor-interacting protein 1 isoform X6

    6. XM_054371584.1 → XP_054227559.1  glutamate receptor-interacting protein 1 isoform X3

    7. XM_054371590.1 → XP_054227565.1  glutamate receptor-interacting protein 1 isoform X9

    8. XM_054371583.1 → XP_054227558.1  glutamate receptor-interacting protein 1 isoform X2

    9. XM_054371586.1 → XP_054227561.1  glutamate receptor-interacting protein 1 isoform X5

    10. XM_054371585.1 → XP_054227560.1  glutamate receptor-interacting protein 1 isoform X4

    11. XM_054371582.1 → XP_054227557.1  glutamate receptor-interacting protein 1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y3R0.3 GenPept UniProtKB/Swiss-Prot:Q9Y3R0

    Gene LinkOut

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