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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
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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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Related articles in PubMed

  1. Incidence, clinicopathological features and fusion transcript landscape of translocation renal cell carcinomas. Classe M, et al. Histopathology, 2017 Jun. PMID 28106924
  2. Identification of GRASP-1 as a novel 97 kDa autoantigen localized to endosomes. Stinton LM, et al. Clin Immunol, 2005 Aug. PMID 15897011
  3. GRASP-1 is a neuronal scaffold protein for the JNK signaling pathway. Ye B, et al. FEBS Lett, 2007 Sep 18. PMID 17761173, Free PMC Article
  4. Physiological and pathological caspase cleavage of the neuronal RasGEF GRASP-1 as detected using a cleavage site-specific antibody. Ye B, et al. Neuroscience, 2002. PMID 12207967
  5. GRASP1 Regulates Synaptic Plasticity and Learning through Endosomal Recycling of AMPA Receptors. Chiu SL, et al. Neuron, 2017 Mar 22. PMID 28285821, Free PMC Article

See all (61) citations in PubMed

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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