RASIP1 Ras interacting protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RASIP1provided by HGNC
Official Full Name: Ras interacting protein 1provided by HGNC
Primary source: HGNC:HGNC:24716
See related: Ensembl:ENSG00000105538 MIM:609623; AllianceGenome:HGNC:24716
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: RAIN
Summary: Enables GTPase binding activity and protein homodimerization activity. Involved in several processes, including negative regulation of Rho protein signal transduction; negative regulation of Rho-dependent protein serine/threonine kinase activity; and positive regulation of integrin activation. Located in cell-cell junction. Part of protein-containing complex. [provided by Alliance of Genome Resources, Oct 2024]
Expression: Broad expression in fat (RPKM 11.9), spleen (RPKM 8.9) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.33

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (48720585..48740610, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (51715002..51735029, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (49223842..49243867, complement)

Chromosome 19 - NC_000019.10 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: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Ras interacting protein 1 facilitated proliferation and invasion of diffuse large B-cell lymphoma cells.
Title: Ras interacting protein 1 facilitated proliferation and invasion of diffuse large B-cell lymphoma cells.
RAIN Is a Novel Enhancer-Associated lncRNA That Controls RUNX2 Expression and Promotes Breast and Thyroid Cancer.
Title: RAIN Is a Novel Enhancer-Associated lncRNA That Controls RUNX2 Expression and Promotes Breast and Thyroid Cancer.
Results show that Rasip1 RA domain formed a dimer that can bind two Rap1 or Ras molecules and solved the Rap1-RRA complex and found that Rasip1 binds Rap1 in the Switch I region, and Rap1 binding induces few conformation changes to Rasip1 stabilizing a beta strand and an unstructured loop.
Title: Structural Basis of Dimeric Rasip1 RA Domain Recognition of the Ras Subfamily of GTP-Binding Proteins.
These studies establish that the binding of HEG1 to Rasip1 mediates Rap1-dependent recruitment of Rasip1 to and stabilization of endothelial cell cell-cell junctions.
Title: Heart of glass anchors Rasip1 at endothelial cell-cell junctions to support vascular integrity.
results reveal an effector pathway for Rap1 in the modulation of Rho signaling and actin dynamics, through which Rap1 modulates endothelial barrier function
Title: Rasip1 mediates Rap1 regulation of Rho in endothelial barrier function through ArhGAP29.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rain is a novel protein that can serve as an effector of endomembrane-localized Ras
Title: Identification and characterization of rain, a novel Ras-interacting protein with a unique subcellular localization.

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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
Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic Associations with Plasma B12, B6, and Folate Levels in an Ischemic Stroke Population from the Vitamin Intervention for Stroke Prevention (VISP) Trial. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel locus including FGF21 is associated with dietary macronutrient intake. 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

D19S1127 (e-PCR)
- UniSTS:32297

G30919 (e-PCR)
- UniSTS:33924

EST196348 (e-PCR)
- UniSTS:48848

WI-16013 (e-PCR)
- UniSTS:61659

A004F11 (e-PCR)
- UniSTS:45291

Gene Ontology Provided by GOA

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

Process	Evidence Code	Pubs
involved_in angiogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in angiogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in branching morphogenesis of an epithelial tube	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of Rho protein signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of Rho protein signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of Rho-dependent protein serine/threonine kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of autophagy	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of membrane permeability	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of integrin activation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of GTPase activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in signal transduction	IEA Inferred from Electronic Annotation more info
involved_in vasculogenesis	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in Golgi stack	IEA Inferred from Electronic Annotation more info
is_active_in cell-cell junction	IBA Inferred from Biological aspect of Ancestor more info
located_in cell-cell junction	IMP Inferred from Mutant Phenotype more info	PubMed
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: ras-interacting protein 1

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_017805.3 → NP_060275.2 ras-interacting protein 1

See identical proteins and their annotated locations for NP_060275.2

Status: VALIDATED

Source sequence(s)

BC021860, BC028614, BC042111

Consensus CDS

CCDS12731.1

UniProtKB/Swiss-Prot

Q5U651, Q6U676

Related

ENSP00000222145.3, ENST00000222145.9

Conserved Domains (2) summary

cd15472
Location:551 → 913

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

pfam00788
Location:144 → 258

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