RTKN rhotekin [Homo sapiens (human)] - Gene

Summary

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
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 2p13.1

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (74425835..74441937, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (74434392..74450497, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (74652962..74669064, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
Protein kinase D regulates RhoA activity via phosphorylation rhotekin at Ser-435.
Title: Protein kinase D regulates RhoA activity via rhotekin phosphorylation.
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.
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.
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.
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

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

WI-14006 (e-PCR)
- UniSTS:53382

A005N24 (e-PCR)
- UniSTS:44994

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
is_active_in cellular_component	ND No biological Data available more info
located_in cytosol	TAS Traceable Author Statement more info

General protein information

Go to the top of the page Help

Preferred Names: rhotekin

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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)

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
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
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
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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

74425835..74441937 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
XM_047445391.1 → XP_047301347.1 rhotekin isoform X2