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    RTKN rhotekin [ Homo sapiens (human) ]

    Gene ID: 6242, updated on 7-Oct-2018

    Summary

    Official Symbol
    RTKNprovided by HGNC
    Official Full Name
    rhotekinprovided by HGNC
    Primary source
    HGNC:HGNC:10466
    See related
    Ensembl:ENSG00000114993 MIM:602288; Vega:OTTHUMG00000129955
    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
    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

    Genomic context

    See RTKN in Genome Data Viewer
    Location:
    2p13.1
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (74425861..74441933, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (74652988..74669060, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene dynactin subunit 1 Neighboring gene DCTN1 antisense RNA 1 Neighboring gene chromosome 2 open reading frame 81 Neighboring gene high mobility group AT-hook 1 pseudogene 8 Neighboring gene WD repeat domain 54 Neighboring gene INO80B-WBP1 readthrough (NMD candidate) Neighboring gene INO80 complex subunit B Neighboring gene WW domain binding protein 1

    Genomic regions, transcripts, and products

    Expression

    • 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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    • G13 Signaling Pathway, organism-specific biosystem (from WikiPathways)
      G13 Signaling Pathway, organism-specific biosystemThe G13 subunit is an alpha unit of heterotrimeric G proteins that regulates cell processes through the use of guanine nucleotide exchange factors. G13 regulates actin cytoskeletal remodeling in cell...
    • RHO GTPase Effectors, organism-specific biosystem (from REACTOME)
      RHO GTPase Effectors, organism-specific biosystemRHO GTPases regulate cell behaviour by activating a number of downstream effectors that regulate cytoskeletal organization, intracellular trafficking and transcription (reviewed by Sahai and Marshall...
    • RHO GTPases Activate Rhotekin and Rhophilins, organism-specific biosystem (from REACTOME)
      RHO GTPases Activate Rhotekin and Rhophilins, organism-specific biosystemRhotekin (RTKN) is a protein with an N-terminally located RHO GTPase binding domain, that shares a limited sequence homology with PKNs and rhophilins. RTKN binds to GTP-bound RHOA, RHOB and RHOC and ...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
      Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    GTP binding IEA
    Inferred from Electronic Annotation
    more info
     
    GTP-Rho binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    GTP-Rho binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    GTPase inhibitor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    GTPase inhibitor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    Rho protein signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    actomyosin contractile ring assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    cortical cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    mitotic cytokinesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    negative regulation of GTPase activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein localization to mitotic actomyosin contractile ring IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    septin ring organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    actomyosin contractile ring IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cellular_component ND
    No biological Data available
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     

    NCBI Reference Sequences (RefSeq)

    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_001015055.1NP_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)
      BC004558, BG470092, BQ574374
      Consensus CDS
      CCDS33226.1
      UniProtKB/Swiss-Prot
      Q9BST9
      Related
      ENSP00000272430.5, OTTHUMP00000202559, ENST00000272430.9, OTTHUMT00000328234
      Conserved Domains (3) summary
      smart00742
      Location:3791
      Hr1; Rho effector or protein kinase C-related kinase homology region 1 homologues
      cd13249
      Location:309419
      PH_rhotekin2; Anillin Pleckstrin homology (PH) domain
      pfam08174
      Location:117267
      Anillin; Cell division protein anillin
    2. NM_001015056.1NP_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, OTTHUMP00000202560, ENST00000233330.6, OTTHUMT00000328236
      Conserved Domains (4) summary
      cd13249
      Location:259369
      PH_rhotekin2; Anillin Pleckstrin homology (PH) domain
      pfam00169
      Location:263361
      PH; PH domain
      pfam08174
      Location:67220
      Anillin; Cell division protein anillin
      cl00087
      Location:141
      HR1; Protein kinase C-related kinase homology region 1 (HR1) domain that binds Rho family small GTPases
    3. NM_033046.2NP_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, OTTHUMP00000160413, ENST00000305557.9, OTTHUMT00000252217
      Conserved Domains (3) summary
      smart00742
      Location:2378
      Hr1; Rho effector or protein kinase C-related kinase homology region 1 homologues
      cd13249
      Location:296406
      PH_rhotekin2; Anillin Pleckstrin homology (PH) domain
      pfam08174
      Location:104254
      Anillin; Cell division protein anillin

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

      Range
      74425861..74441933 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005264478.3XP_005264535.1  rhotekin isoform X2

      Conserved Domains (4) summary
      smart00742
      Location:3791
      Hr1; Rho effector or protein kinase C-related kinase homology region 1 homologues
      cd13249
      Location:309419
      PH_rhotekin2; Anillin Pleckstrin homology (PH) domain
      pfam00169
      Location:313411
      PH; PH domain
      pfam08174
      Location:117270
      Anillin; Cell division protein anillin
    2. XM_017004635.2XP_016860124.1  rhotekin isoform X1

      UniProtKB/Swiss-Prot
      Q9BST9
      Conserved Domains (3) summary
      smart00742
      Location:2378
      Hr1; Rho effector or protein kinase C-related kinase homology region 1 homologues
      cd13249
      Location:296406
      PH_rhotekin2; Anillin Pleckstrin homology (PH) domain
      pfam08174
      Location:104254
      Anillin; Cell division protein anillin
    3. XM_017004637.2XP_016860126.1  rhotekin isoform X5

    4. XM_017004640.2XP_016860129.1  rhotekin isoform X8

    5. XM_017004638.2XP_016860127.1  rhotekin isoform X6

    6. XM_017004636.2XP_016860125.1  rhotekin isoform X3

    7. XM_005264479.4XP_005264536.1  rhotekin isoform X4

      Conserved Domains (4) summary
      smart00742
      Location:3791
      Hr1; Rho effector or protein kinase C-related kinase homology region 1 homologues
      cd13249
      Location:309419
      PH_rhotekin2; Anillin Pleckstrin homology (PH) domain
      pfam00169
      Location:313411
      PH; PH domain
      pfam08174
      Location:117270
      Anillin; Cell division protein anillin
    8. XM_017004639.1XP_016860128.1  rhotekin isoform X7

    RNA

    1. XR_939704.3 RNA Sequence

    2. XR_001738881.2 RNA Sequence

    3. XR_939705.2 RNA Sequence

    4. XR_939706.1 RNA Sequence

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