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    CYTH3 cytohesin 3 [ Homo sapiens (human) ]

    Gene ID: 9265, updated on 2-Nov-2024

    Summary

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    Official Symbol
    CYTH3provided by HGNC
    Official Full Name
    cytohesin 3provided by HGNC
    Primary source
    HGNC:HGNC:9504
    See related
    Ensembl:ENSG00000008256 MIM:605081; AllianceGenome:HGNC:9504
    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
    GRP1; ARNO3; PSCD3; cytohesin-3
    Summary
    This gene encodes a member of the PSCD (pleckstrin homology, Sec7 and coiled-coil domains) family. PSCD family members have identical structural organization that consists of an N-terminal coiled-coil motif, a central Sec7 domain, and a C-terminal pleckstrin homology (PH) domain. The coiled-coil motif is involved in homodimerization, the Sec7 domain contains guanine-nucleotide exchange protein (GEP) activity, and the PH domain interacts with phospholipids and is responsible for association of PSCDs with membranes. Members of this family appear to mediate the regulation of protein sorting and membrane trafficking. This encoded protein is involved in the control of Golgi structure and function, and it may have a physiological role in regulating ADP-ribosylation factor protein 6 (ARF) functions, in addition to acting on ARF1. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in placenta (RPKM 22.7), fat (RPKM 21.0) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CYTH3 in Genome Data Viewer
    Location:
    7p22.1
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (6161779..6272624, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (6281155..6392015, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (6201410..6312255, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene eukaryotic translation initiation factor 2 alpha kinase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17932 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17933 Neighboring gene RNA, U6 small nuclear 218, pseudogene Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr7:6116071-6116985 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr7:6116986-6117899 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17934 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:6141129-6141352 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:6143513-6144112 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17935 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17936 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17937 Neighboring gene ubiquitin specific peptidase 42 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:6189130-6190329 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:6262905-6263525 Neighboring gene Sharpr-MPRA regulatory region 15593 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25619 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25620 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:6310870-6311592 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:6311593-6312314 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:6322371-6323253 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:6323254-6324135 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:6362882-6363382 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:6387689-6388190 Neighboring gene small integral membrane protein 10 like 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:6388191-6388690 Neighboring gene family with sequence similarity 220 member A Neighboring gene ribosomal protein SA pseudogene 73

    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. General receptor for phosphoinositides 1, a novel repressor of thyroid hormone receptor action that prevents deoxyribonucleic acid binding. Poirier MB, et al. Mol Endocrinol, 2005 Aug. PMID 15878955
    2. The GRP1 PH domain, like the AKT1 PH domain, possesses a sentry glutamate residue essential for specific targeting to plasma membrane PI(3,4,5)P(3). Pilling C, et al. Biochemistry, 2011 Nov 15. PMID 21932773, Free PMC Article
    3. Cytohesin-3 is upregulated in hepatocellular carcinoma and contributes to tumor growth and vascular invasion. Fu Y, et al. Int J Clin Exp Pathol, 2014. PMID 24966920, Free PMC Article
    4. ARNO3, a Sec7-domain guanine nucleotide exchange factor for ADP ribosylation factor 1, is involved in the control of Golgi structure and function. Franco M, et al. Proc Natl Acad Sci U S A, 1998 Aug 18. PMID 9707577, Free PMC Article
    5. Nerve growth factor- and epidermal growth factor-stimulated translocation of the ADP-ribosylation factor-exchange factor GRP1 to the plasma membrane of PC12 cells requires activation of phosphatidylinositol 3-kinase and the GRP1 pleckstrin homology domain. Venkateswarlu K, et al. Biochem J, 1998 Oct 1. PMID 9742223, Free PMC Article

    See all (41) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Cytohesin-3 was upregulated in hepatocellular carcinoma tissues, correlating with overall survival/relapse-free survival and tumor size/vascular invasion.
      Title: Cytohesin-3 is upregulated in hepatocellular carcinoma and contributes to tumor growth and vascular invasion.
    2. The PH domains of cytohesin 2/ARNO and cytohesin 3/GRP1 are responsible for the differential effects of these proteins on cell adhesion to fibronectin.
      Title: Phosphoinositide specificity determines which cytohesins regulate β1 integrin recycling.
    3. incorporation of the E345K charge reversal mutation into the GRP1 PH domain enhances PI(4,5)P(2) affinity 8-fold and yields constitutive plasma membrane targeting in cells
      Title: The GRP1 PH domain, like the AKT1 PH domain, possesses a sentry glutamate residue essential for specific targeting to plasma membrane PI(3,4,5)P(3).
    4. GRP1 is a new corepressor for thyroid hormone receptors, which modulates both positive and negative regulation by T3 by decreasing TR-complex formation on thyroid response elements
      Title: General receptor for phosphoinositides 1, a novel repressor of thyroid hormone receptor action that prevents deoxyribonucleic acid binding.
    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)

    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 guanyl-nucleotide exchange factor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables phosphatidylinositol-3,4,5-trisphosphate binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in Golgi vesicle transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in establishment of epithelial cell polarity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of cell adhesion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of ARF protein signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in adherens junction ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in bicellular tight junction ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in ruffle IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    cytohesin-3
    Names
    ARF nucleotide-binding site opener 3
    PH, SEC7 and coiled-coil domain-containing protein 3
    general receptor of phosphoinositides 1
    pleckstrin homology, Sec7 and coiled-coil domains 3

    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_029882.1 RefSeqGene

      Range
      4988..115833
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001367580.1 → NP_001354509.1  cytohesin-3 isoform b

      Status: REVIEWED

      Source sequence(s)
      AC004895, AC009412
      UniProtKB/TrEMBL
      B7Z2V9

    2. NM_001367581.1 → NP_001354510.1  cytohesin-3 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3), as well as variant 4, encodes isoform c.
      Source sequence(s)
      AC004895, AC009412
      UniProtKB/TrEMBL
      B4DLA7
      Conserved Domains (2) summary
      cd01252
      Location:96 → 215
      PH_GRP1-like; General Receptor for Phosphoinositides-1-like Pleckstrin homology (PH) domain
      pfam01369
      Location:1 → 81
      Sec7; Sec7 domain

    3. NM_001367582.1 → NP_001354511.1  cytohesin-3 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4), as well as variant 3, encodes isoform c.
      Source sequence(s)
      AC004895
      UniProtKB/TrEMBL
      B4DLA7
      Conserved Domains (2) summary
      cd01252
      Location:96 → 215
      PH_GRP1-like; General Receptor for Phosphoinositides-1-like Pleckstrin homology (PH) domain
      pfam01369
      Location:1 → 81
      Sec7; Sec7 domain

    4. NM_004227.4 → NP_004218.1  cytohesin-3 isoform a

      See identical proteins and their annotated locations for NP_004218.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AC009412, AJ223957, BC028717, BG620295, CB988199
      Consensus CDS
      CCDS5346.1
      UniProtKB/TrEMBL
      B2R9C3
      Related
      ENSP00000297044.7, ENST00000350796.8
      Conserved Domains (2) summary
      cd01252
      Location:263 → 382
      PH_GRP1-like; General Receptor for Phosphoinositides-1-like Pleckstrin homology (PH) domain
      pfam01369
      Location:66 → 248
      Sec7; Sec7 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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      6161779..6272624 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      6281155..6392015 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O43739.2 GenPept UniProtKB/Swiss-Prot:O43739

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