RADIL Rap associating with DIL domain [Homo sapiens (human)] - Gene

Summary

Official Symbol: RADILprovided by HGNC
Official Full Name: Rap associating with DIL domainprovided by HGNC
Primary source: HGNC:HGNC:22226
See related: Ensembl:ENSG00000157927 MIM:611491; AllianceGenome:HGNC:22226
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: RASIP2
Summary: Predicted to enable GTPase binding activity. Acts upstream of or within substrate adhesion-dependent cell spreading. Located in microtubule. Part of protein-containing complex. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in testis (RPKM 4.1), lung (RPKM 1.4) and 10 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7p22.1

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (4797055..4883716, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (4914262..5000912, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (4836686..4923347, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Identification of Radil as a Ras binding partner and putative activator.
Title: Identification of Radil as a Ras binding partner and putative activator.
Studies indicate that Radil regulates neutrophil adhesion and motility by linking Rap1 to beta2-integrin activation. +++ ERROR +++ studies establish that Radil regulates neutrophil adhesion and motility by linking Rap1 to beta2-integrin activation.
Title: Radil controls neutrophil adhesion and motility through β2-integrin activation.
It was shown that KIF14 associates with the PDZ domain of Radil and negatively regulates Rap1-mediated inside-out integrin activation by tethering Radil on microtubules. Radil is also important for breast cancer cell proliferation and metastasis.
Title: KIF14 negatively regulates Rap1a-Radil signaling during breast cancer progression.
Gbetagamma subunits enter in a protein complex with activated Rap1a and its effector Radil; this complex is required downstream of receptor stimulation for the activation of integrins and the positive modulation of cell-matrix adhesiveness.
Title: G protein betagamma subunits regulate cell adhesion through Rap1a and its effector Radil.

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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

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PAPOLB_3611 (e-PCR)
- UniSTS:464525

GDB:1318549 (e-PCR)
- UniSTS:5806

SHGC-155747 (e-PCR)
- UniSTS:184569

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTPase binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in neural crest cell migration	IBA Inferred from Biological aspect of Ancestor more info
involved_in signal transduction	IEA Inferred from Electronic Annotation more info
involved_in substrate adhesion-dependent cell spreading	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within substrate adhesion-dependent cell spreading	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in microtubule	IBA Inferred from Biological aspect of Ancestor more info
located_in microtubule	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: ras-associating and dilute domain-containing protein

Names: Rap GTPase interactor; Ras association and DIL domains

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)

NM_018059.5 → NP_060529.4 ras-associating and dilute domain-containing protein

See identical proteins and their annotated locations for NP_060529.4

Status: VALIDATED

Source sequence(s)

AC092610, BC004919, BC117317, BG722917, DA241653, EF560723

Consensus CDS

CCDS43544.1

UniProtKB/Swiss-Prot

A4D1Z5, A5YM49, B7ZL20, Q0VFZ9, Q75LH3, Q96JH8, Q9BSP5, Q9H0M6, Q9NW43, Q9NWC4

Related

ENSP00000382492.3, ENST00000399583.4

Conserved Domains (5) summary

cd00992
Location:974 → 1058

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

cd15472
Location:414 → 779

Myo5p-like_CBD_Rasip1; cargo binding domain of myosin 5-like of Ras-interacting protein 1

pfam00498
Location:273 → 343

FHA; FHA domain

pfam00788
Location:61 → 164

RA; Ras association (RalGDS/AF-6) domain

pfam15961
Location:809 → 935

DUF4764; Domain of unknown function (DUF4764)