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RTKN rhotekin [ Homo sapiens (human) ]

Gene ID: 6242, updated on 1-Aug-2020

Summary

Official Symbol
RTKNprovided by HGNC
Official Full Name
rhotekinprovided by HGNC
Primary source
HGNC:HGNC:10466
See related
Ensembl:ENSG00000114993 MIM:602288
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
109.20200522 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (74425835..74441937, 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

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_001015055.2NP_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
    Q9BST9
    Related
    ENSP00000272430.5, ENST00000272430.10
    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, ENST00000233330.6
    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, ENST00000305557.9
    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 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    74425835..74441937 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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