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    RTKN rhotekin [ Homo sapiens (human) ]

    Gene ID: 6242, updated on 27-Nov-2024

    Summary

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    Official Symbol
    RTKNprovided by HGNC
    Official Full Name
    rhotekinprovided by HGNC
    Primary source
    HGNC:HGNC:10466
    See related
    Ensembl:ENSG00000114993 MIM:602288; AllianceGenome:HGNC:10466
    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
    RTKN-1
    Summary
    This gene encodes a scaffold protein that interacts with GTP-bound Rho proteins. Binding of this protein inhibits the GTPase activity of Rho proteins. This protein may interfere with the conversion of active, GTP-bound Rho to the inactive GDP-bound form by RhoGAP. Rho proteins regulate many important cellular processes, including cytokinesis, transcription, smooth muscle contraction, cell growth and transformation. Dysregulation of the Rho signal transduction pathway has been implicated in many forms of cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in kidney (RPKM 18.1), brain (RPKM 12.5) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RTKN in Genome Data Viewer
    Location:
    2p13.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (74425835..74441937, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (74434392..74450497, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (74652962..74669064, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene chromosome 2 open reading frame 81 Neighboring gene high mobility group AT-hook 1 pseudogene 8 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11659 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16055 Neighboring gene WD repeat domain 54 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:74653567-74654066 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:74663701-74664380 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:74666515-74667252 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11660 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11661 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11662 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16056 Neighboring gene INO80B-WBP1 readthrough (NMD candidate) Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16057 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11663 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:74684936-74685442 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:74685443-74685950 Neighboring gene INO80 complex subunit B Neighboring gene WW domain binding protein 1

    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
    • 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. Inhibition of rhotekin exhibits antitumor effects in lung cancer cells. Zhang W, et al. Oncol Rep, 2016 May. PMID 26935528, Free PMC Article
    2. Effect of RTKN on progression and metastasis of colon cancer in vitro. Qu GQ, et al. Biomed Pharmacother, 2015 Aug. PMID 26349972
    3. Overexpression of rho effector rhotekin confers increased survival in gastric adenocarcinoma. Liu CA, et al. J Biomed Sci, 2004 Sep-Oct. PMID 15316142
    4. Association between clinical characteristics and expression abundance of RTKN gene in human bladder carcinoma tissues from Chinese patients. Fan J, et al. J Cancer Res Clin Oncol, 2005 Mar. PMID 15599595
    5. Identification of a cell polarity-related protein, Lin-7B, as a binding partner for a Rho effector, Rhotekin, and their possible interaction in neurons. Sudo K, et al. Neurosci Res, 2006 Dec. PMID 16979770

    See all (75) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Let-7a microRNA inhibits tumor cell growth and metastasis by directly targeting RTKN in human colon cancer.
      Title: Let-7a inhibits tumor cell growth and metastasis by directly targeting RTKN in human colon cancer.
    2. RTKN is upregulated in hepatocellular carcinoma.MicroRNA-152 inhibits tumor cell growth by directly targeting RTKN in hepatocellular carcinoma.
      Title: MicroRNA-152 inhibits tumor cell growth by directly targeting RTKN in hepatocellular carcinoma.
    3. The RTKN protein is associated with lung cancer in clinic samples and exerts anticancer activity in lung adenocarcinoma cells through inhibiting cell cycle progression and the DNA replication machinery.
      Title: Inhibition of rhotekin exhibits antitumor effects in lung cancer cells.
    4. RTKN could affect the proliferation and metastasis of colon cancer by reducing expression of MCM2/3/5, CDK1/2 and PCNA
      Title: Effect of RTKN on progression and metastasis of colon cancer in vitro.
    5. suggest that interaction of S100A4 and Rhotekin permits S100A4 to complex with RhoA and switch Rho function from stress fiber formation to membrane ruffling to confer an invasive phenotypea
      Title: Coupling S100A4 to Rhotekin alters Rho signaling output in breast cancer cells.
    6. Protein kinase D regulates RhoA activity via phosphorylation rhotekin at Ser-435.
      Title: Protein kinase D regulates RhoA activity via rhotekin phosphorylation.
    7. Loss of miR-145 may provide a selective growth advantage for MCF-7 by targeting RTKN.
      Title: miR-145 inhibits breast cancer cell growth through RTKN.
    8. Rhotekin forms a complex with vinexin and may play a role at focal adhesions.
      Title: Interaction of a multi-domain adaptor protein, vinexin, with a Rho-effector, Rhotekin.
    9. SEPT9 sequence alternations causing hereditary neuralgic amyotrophy are associated with altered interactions with SEPT4/SEPT11 and resistance to Rho/Rhotekin-signaling
      Title: SEPT9 sequence alternations causing hereditary neuralgic amyotrophy are associated with altered interactions with SEPT4/SEPT11 and resistance to Rho/Rhotekin-signaling.
    10. overexpression may play a key role in gastric tumorigenesis by conferring cells resistance to apoptosis
      Title: Rho/Rhotekin-mediated NF-kappaB activation confers resistance to apoptosis.
    Submit: New GeneRIF Correction See all GeneRIFs (13)

    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)

    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 GTP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables GTPase inhibitor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTPase inhibitor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables small GTPase binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in Rho protein signal transduction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in actomyosin contractile ring assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mitotic cytokinesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in septin ring organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in signal transduction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in actomyosin contractile ring IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    rhotekin

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001015055.2 → NP_001015055.1  rhotekin isoform a

      See identical proteins and their annotated locations for NP_001015055.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AC005041, BC004558, BG470092, BQ574374
      Consensus CDS
      CCDS33226.1
      UniProtKB/Swiss-Prot
      H7BXD4, Q8WVN1, Q96PT6, Q9BST9, Q9HB05
      Related
      ENSP00000272430.5, ENST00000272430.10
      Conserved Domains (3) summary
      smart00742
      Location:37 → 91
      Hr1; Rho effector or protein kinase C-related kinase homology region 1 homologues
      cd13249
      Location:309 → 419
      PH_rhotekin2; Anillin Pleckstrin homology (PH) domain
      pfam08174
      Location:117 → 267
      Anillin; Cell division protein anillin

    2. NM_001015056.1 → NP_001015056.1  rhotekin isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding region and uses a downstream start codon, compared to variant 1. The encoded protein (isoform c) is shorter than isoform a.
      Source sequence(s)
      AW410753, BC017727, BQ574374, BQ721791
      Consensus CDS
      CCDS42699.1
      UniProtKB/Swiss-Prot
      Q9BST9
      Related
      ENSP00000233330.6, ENST00000233330.6
      Conserved Domains (4) summary
      cd13249
      Location:259 → 369
      PH_rhotekin2; Anillin Pleckstrin homology (PH) domain
      pfam00169
      Location:263 → 361
      PH; PH domain
      pfam08174
      Location:67 → 220
      Anillin; Cell division protein anillin
      cl00087
      Location:1 → 41
      HR1; Protein kinase C-related kinase homology region 1 (HR1) domain that binds Rho family small GTPases

    3. NM_001410843.1 → NP_001397772.1  rhotekin isoform d

      Status: REVIEWED

      Source sequence(s)
      AC005041
      Consensus CDS
      CCDS92783.1
      UniProtKB/TrEMBL
      A0A1W2PPZ2
      Related
      ENSP00000491825.2, ENST00000640304.2

    4. NM_033046.2 → NP_149035.1  rhotekin isoform b

      See identical proteins and their annotated locations for NP_149035.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding region, compared to variant 1. The encoded protein (isoform b) is shorter and has a distinct N-terminus, compared to isoform a.
      Source sequence(s)
      AW410753, BC017727, BQ574374, BQ721791
      Consensus CDS
      CCDS1941.1
      UniProtKB/Swiss-Prot
      Q9BST9
      Related
      ENSP00000305298.5, ENST00000305557.9
      Conserved Domains (3) summary
      smart00742
      Location:23 → 78
      Hr1; Rho effector or protein kinase C-related kinase homology region 1 homologues
      cd13249
      Location:296 → 406
      PH_rhotekin2; Anillin Pleckstrin homology (PH) domain
      pfam08174
      Location:104 → 254
      Anillin; Cell division protein anillin

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      74425835..74441937 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017004635.3 → XP_016860124.1  rhotekin isoform X1

      UniProtKB/Swiss-Prot
      Q9BST9
      Conserved Domains (3) summary
      smart00742
      Location:23 → 78
      Hr1; Rho effector or protein kinase C-related kinase homology region 1 homologues
      cd13249
      Location:296 → 406
      PH_rhotekin2; Anillin Pleckstrin homology (PH) domain
      pfam08174
      Location:104 → 254
      Anillin; Cell division protein anillin

    2. XM_005264479.5 → XP_005264536.1  rhotekin isoform X3

      Conserved Domains (4) summary
      smart00742
      Location:37 → 91
      Hr1; Rho effector or protein kinase C-related kinase homology region 1 homologues
      cd13249
      Location:309 → 419
      PH_rhotekin2; Anillin Pleckstrin homology (PH) domain
      pfam00169
      Location:313 → 411
      PH; PH domain
      pfam08174
      Location:117 → 270
      Anillin; Cell division protein anillin

    3. XM_047445391.1 → XP_047301347.1  rhotekin isoform X2

    RNA

    1. XR_939705.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      74434392..74450497 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054343292.1 → XP_054199267.1  rhotekin isoform X1

    2. XM_054343294.1 → XP_054199269.1  rhotekin isoform X3

    3. XM_054343293.1 → XP_054199268.1  rhotekin isoform X2

    RNA

    1. XR_008486479.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BST9.2 GenPept UniProtKB/Swiss-Prot:Q9BST9

    Gene LinkOut

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

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