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    GRIPAP1 GRIP1 associated protein 1 [ Homo sapiens (human) ]

    Gene ID: 56850, updated on 14-Nov-2024

    Summary

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    Official Symbol
    GRIPAP1provided by HGNC
    Official Full Name
    GRIP1 associated protein 1provided by HGNC
    Primary source
    HGNC:HGNC:18706
    See related
    Ensembl:ENSG00000068400 MIM:300408; AllianceGenome:HGNC:18706
    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
    GRASP-1
    Summary
    This gene encodes a guanine nucleotide exchange factor for the Ras family of small G proteins (RasGEF). The encoded protein interacts in a complex with glutamate receptor interacting protein 1 (GRIP1) and plays a role in the regulation of AMPA receptor function. [provided by RefSeq, Aug 2013]
    Expression
    Ubiquitous expression in brain (RPKM 17.5), spleen (RPKM 12.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GRIPAP1 in Genome Data Viewer
    Location:
    Xp11.23
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (48973723..49002264, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (48384190..48412744, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (48830134..48858675, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 12141 Neighboring gene RNA, U6 small nuclear 722, pseudogene Neighboring gene potassium voltage-gated channel subfamily D member 1 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:48840212-48840468 Neighboring gene Sharpr-MPRA regulatory region 9113 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29627 Neighboring gene CRISPRi-FlowFISH-validated HDAC6 regulatory element 4 Neighboring gene Sharpr-MPRA regulatory region 2669 Neighboring gene transcription factor binding to IGHM enhancer 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:48900209-48901072 Neighboring gene CRISPRi-FlowFISH-validated PQBP1 regulatory element 4 Neighboring gene Sharpr-MPRA regulatory region 13918 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20833 Neighboring gene coiled-coil domain containing 120

    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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. We identified a new TFE3 fusion partner, GRIPAP1, in translocation renal cell carcinoma
      Title: Incidence, clinicopathological features and fusion transcript landscape of translocation renal cell carcinomas.
    2. results demonstrate a requirement for normal recycling endosome function in AMPAR-dependent synaptic function and neuronal connectivity in vivo, and suggest a potential role for GRASP1 in the pathophysiology of human cognitive disorders.
      Title: GRASP1 Regulates Synaptic Plasticity and Learning through Endosomal Recycling of AMPA Receptors.
    3. Results suggest that GRASP-1 serves as a scaffold protein to facilitate MEKK-1 activation of JNK signaling in neurons.
      Title: GRASP-1 is a neuronal scaffold protein for the JNK signaling pathway.
    4. GRASP-1 was identified as an soluble autoantigen that has numerous coiled-coil domains throughout the protein.
      Title: Identification of GRASP-1 as a novel 97 kDa autoantigen localized to endosomes.
    Submit: New GeneRIF Correction

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA1167, MGC126593, MGC126595, DKFZp434P0630

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables guanyl-nucleotide exchange factor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ionotropic glutamate receptor binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in negative regulation of receptor clustering IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in neurotransmitter receptor transport, endosome to postsynaptic membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of modification of synaptic structure IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of neurotransmitter receptor transport, endosome to postsynaptic membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of recycling endosome localization within postsynapse IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in axon IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in blood microparticle HDA PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in dendrite IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in extrinsic component of postsynaptic early endosome membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in glutamatergic synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in postsynaptic recycling endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in presynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in recycling endosome membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    GRIP1-associated 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_016263.3 RefSeqGene

      Range
      5000..33541
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_020137.5 → NP_064522.4  GRIP1-associated protein 1

      Status: REVIEWED

      Source sequence(s)
      AC233294
      Consensus CDS
      CCDS35248.1
      UniProtKB/Swiss-Prot
      A6NL78, Q3MJ75, Q4V327, Q4V328, Q4V330, Q5HYG1, Q6N046, Q96DH8, Q9NQ43, Q9ULQ3
      UniProtKB/TrEMBL
      A8K7Z3
      Related
      ENSP00000365606.5, ENST00000376423.8
      Conserved Domains (1) summary
      cl25732
      Location:7 → 648
      SMC_N; RecF/RecN/SMC N terminal domain

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      48973723..49002264 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791820.1 Reference GRCh38.p14 PATCHES

      Range
      132558..161099 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      48384190..48412744 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_207672.1: Suppressed sequence

      Description
      NM_207672.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q4V328.2 GenPept UniProtKB/Swiss-Prot:Q4V328

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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