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    RHPN1 rhophilin Rho GTPase binding protein 1 [ Homo sapiens (human) ]

    Gene ID: 114822, updated on 10-Dec-2024

    Summary

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    Official Symbol
    RHPN1provided by HGNC
    Official Full Name
    rhophilin Rho GTPase binding protein 1provided by HGNC
    Primary source
    HGNC:HGNC:19973
    See related
    Ensembl:ENSG00000158106 MIM:601031; AllianceGenome:HGNC:19973
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ODF5; RHPN; RHOPHILIN
    Summary
    Predicted to be involved in negative regulation of stress fiber assembly. Predicted to act upstream of or within several processes, including focal adhesion assembly; glomerular filtration; and renal albumin absorption. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in brain (RPKM 2.9), kidney (RPKM 2.5) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RHPN1 in Genome Data Viewer
    Location:
    8q24.3
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (143364255..143384221)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (144511888..144531868)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (144451046..144466391)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902037 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:144389476-144389976 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:144389977-144390477 Neighboring gene DNA topoisomerase I mitochondrial Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:144403237-144403900 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:144403901-144404564 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:144404565-144405228 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:144405229-144405890 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:144414065-144414598 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:144416274-144416958 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:144421307-144422044 Neighboring gene RNA, U6 small nuclear 220, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:144450004-144450559 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19618 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19617 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:144451300-144452207 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:144452208-144453114 Neighboring gene RHPN1 antisense RNA 1 (head to head) Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28070 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:144482673-144483320 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:144483321-144483968 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:144483969-144484616 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:144484617-144485263 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:144487803-144488782 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19620 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19621 Neighboring gene MAFA antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:144504663-144505250 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28071 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19622 Neighboring gene MAF bZIP transcription factor A

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. The positive feedback loop of RHPN1-AS1/miR-1299/ETS1 accelerates the deterioration of gastric cancer. Ding L, et al. Biomed Pharmacother, 2020 Apr. PMID 31982726
    2. LncRNA RHPN1-AS1 accelerates proliferation, migration, and invasion via regulating miR-485-5p/BSG axis in hepatocellular carcinoma. Zhang W, et al. Naunyn Schmiedebergs Arch Pharmacol, 2020 Dec. PMID 32435875
    3. The RhoA-binding protein, rhophilin-2, regulates actin cytoskeleton organization. Peck JW, et al. J Biol Chem, 2002 Nov 15. PMID 12221077
    4. Ropporin, a sperm-specific binding protein of rhophilin, that is localized in the fibrous sheath of sperm flagella. Fujita A, et al. J Cell Sci, 2000 Jan. PMID 10591629
    5. Divergent Bro1 domains share the capacity to bind human immunodeficiency virus type 1 nucleocapsid and to enhance virus-like particle production. Popov S, et al. J Virol, 2009 Jul. PMID 19403673, Free PMC Article

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. LncRNA RHPN1-AS1 accelerates proliferation, migration, and invasion via regulating miR-485-5p/BSG axis in hepatocellular carcinoma.
      Title: LncRNA RHPN1-AS1 accelerates proliferation, migration, and invasion via regulating miR-485-5p/BSG axis in hepatocellular carcinoma.
    2. The positive feedback loop of RHPN1-AS1/miR-1299/ETS1 accelerates the deterioration of gastric cancer.
      Title: The positive feedback loop of RHPN1-AS1/miR-1299/ETS1 accelerates the deterioration of gastric cancer.
    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)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Pr55(Gag) gag The isolated Bro1 domains of HD-PTP and rhophilin both bind to HIV-1 NC and share the capacity to stimulate VLP production by a minimal HIV-1 Gag molecule PubMed
    nucleocapsid gag The isolated Bro1 domains of HD-PTP and rhophilin both bind to HIV-1 NC and share the capacity to stimulate VLP production by a minimal HIV-1 Gag molecule PubMed

    Go to the HIV-1, Human Interaction Database

    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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    Homology

    Clone Names

    • KIAA1929

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in negative regulation of stress fiber assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    rhophilin-1
    Names
    GTP-Rho-binding protein 1
    outer dense fiber of sperm tails 5

    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.

    mRNA and Protein(s)

    1. NM_052924.3 → NP_443156.2  rhophilin-1

      See identical proteins and their annotated locations for NP_443156.2

      Status: VALIDATED

      Source sequence(s)
      AC105118, BC025767, BX341691
      Consensus CDS
      CCDS47927.1
      UniProtKB/Swiss-Prot
      Q8TAV1, Q8TCX5, Q96PV9
      Related
      ENSP00000289013.6, ENST00000289013.11
      Conserved Domains (3) summary
      cd09248
      Location:109 → 493
      BRO1_Rhophilin_1; Protein-interacting Bro1-like domain of RhoA-binding protein Rhophilin-1
      smart00228
      Location:514 → 580
      PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
      cl00087
      Location:21 → 105
      HR1; Protein kinase C-related kinase homology region 1 (HR1) domain that binds Rho family small GTPases

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      143364255..143384221
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047421319.1 → XP_047277275.1  rhophilin-1 isoform X6

    2. XM_005250772.4 → XP_005250829.1  rhophilin-1 isoform X1

      See identical proteins and their annotated locations for XP_005250829.1

      Conserved Domains (3) summary
      cd09248
      Location:162 → 546
      BRO1_Rhophilin_1; Protein-interacting Bro1-like domain of RhoA-binding protein Rhophilin-1
      smart00228
      Location:567 → 633
      PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
      cl00087
      Location:74 → 158
      HR1; Protein kinase C-related kinase homology region 1 (HR1) domain that binds Rho family small GTPases

    3. XM_005250773.4 → XP_005250830.1  rhophilin-1 isoform X2

      Conserved Domains (3) summary
      cd09248
      Location:162 → 545
      BRO1_Rhophilin_1; Protein-interacting Bro1-like domain of RhoA-binding protein Rhophilin-1
      smart00228
      Location:566 → 632
      PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
      cl00087
      Location:74 → 158
      HR1; Protein kinase C-related kinase homology region 1 (HR1) domain that binds Rho family small GTPases

    4. XM_047421316.1 → XP_047277272.1  rhophilin-1 isoform X4

    5. XM_047421320.1 → XP_047277276.1  rhophilin-1 isoform X7

      UniProtKB/TrEMBL
      A0AAQ5BIJ1

    6. XM_047421322.1 → XP_047277278.1  rhophilin-1 isoform X9

    7. XM_047421321.1 → XP_047277277.1  rhophilin-1 isoform X8

    8. XM_017013015.2 → XP_016868504.1  rhophilin-1 isoform X6

    9. XM_047421315.1 → XP_047277271.1  rhophilin-1 isoform X3

    10. XM_047421318.1 → XP_047277274.1  rhophilin-1 isoform X6

    11. XM_047421317.1 → XP_047277273.1  rhophilin-1 isoform X5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      144511888..144531868
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054359708.1 → XP_054215683.1  rhophilin-1 isoform X6

    2. XM_054359701.1 → XP_054215676.1  rhophilin-1 isoform X1

    3. XM_054359702.1 → XP_054215677.1  rhophilin-1 isoform X2

    4. XM_054359704.1 → XP_054215679.1  rhophilin-1 isoform X4

    5. XM_054359709.1 → XP_054215684.1  rhophilin-1 isoform X7

      UniProtKB/TrEMBL
      A0AAQ5BIJ1

    6. XM_054359711.1 → XP_054215686.1  rhophilin-1 isoform X9

    7. XM_054359710.1 → XP_054215685.1  rhophilin-1 isoform X8

    8. XM_054359706.1 → XP_054215681.1  rhophilin-1 isoform X6

    9. XM_054359703.1 → XP_054215678.1  rhophilin-1 isoform X3

    10. XM_054359707.1 → XP_054215682.1  rhophilin-1 isoform X6

    11. XM_054359705.1 → XP_054215680.1  rhophilin-1 isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TCX5.2 GenPept UniProtKB/Swiss-Prot:Q8TCX5

    Gene LinkOut

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