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RTKN rhotekin [ Homo sapiens (human) ]

Gene ID: 6242, updated on 14-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
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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 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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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

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