RIN1 Ras and Rab interactor 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RIN1provided by HGNC
Official Full Name: Ras and Rab interactor 1provided by HGNC
Primary source: HGNC:HGNC:18749
See related: Ensembl:ENSG00000174791 MIM:605965; AllianceGenome:HGNC:18749
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
Summary: Predicted to enable small GTPase binding activity. Predicted to be involved in endocytosis; regulation of catalytic activity; and signal transduction. Predicted to act upstream of or within associative learning; memory; and negative regulation of synaptic plasticity. Located in cytoplasm and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in skin (RPKM 7.4), stomach (RPKM 2.6) and 21 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q13.2

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (66330241..66336774, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (66323896..66330429, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (66097712..66104245, complement)

Chromosome 11 - NC_000011.10 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
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?

Role of RIN1 on telomerase activity driven by EGF-Ras mediated signaling in breast cancer.
Title: Role of RIN1 on telomerase activity driven by EGF-Ras mediated signaling in breast cancer.
Findings suggest that RIN1 plays an important oncogenic role in clear cell renal cell carcinoma malignancy by activation of EGFR signaling through interacting with Rab25.
Title: RIN1 promotes renal cell carcinoma malignancy by activating EGFR signaling through Rab25.
Smad2 is a key scaffold, allowing RIN1 to act as a GTP exchange factor for MFN2-GTPase activation to promote mitochondrial ATP synthesis and suppress superoxide production during mitochondrial fusion.
Title: Activation of Mitofusin2 by Smad2-RIN1 Complex during Mitochondrial Fusion.
Overexpression experiments in tandem with pull-down assays indicated that specific Ser291/292 phosphorylation of RIN1 favored binding to activated Ras
Title: Prostaglandin E2-Dependent Phosphorylation of RAS Inhibition 1 (RIN1) at Ser 291 and 292 Inhibits Transforming Growth Factor-β-Induced RAS Activation Pathway in Human Synovial Fibroblasts: Role in Cell Migration.
analysis of a novel deregulated mechanism in chronic myeloid leukemia patients, indicating BIN1 and RIN1 as players in the maintenance of the abnormal RTK signaling in this hematological disease
Title: Inverse regulation of bridging integrator 1 and BCR-ABL1 in chronic myeloid leukemia.
Findings suggest that RIN1 orchestrates RAB5 activation, ABL kinase activation and BIN1 recruitment to determine EGFR fate.
Title: RIN1 orchestrates the activation of RAB5 GTPases and ABL tyrosine kinases to determine the fate of EGFR.
over-expression of RIN1 may play an important role in the progression of non-small cell lung cancer and RIN1 expression may offer a valuable marker for predicting the outcome of patients with NSCLC
Title: Prognostic significance of RIN1 gene expression in human non-small cell lung cancer.
RIN1 plays an important role in gastric adenocarcinoma progression and that a high RIN1 expression predicts an unfavorable prognosis in gastric adenocarcinoma patients.
Title: High RIN1 expression is associated with poor prognosis in patients with gastric adenocarcinoma.
RIN1 expression could be a potential prognostic predictor for the melanoma patients and provide a potential target therapy for melanoma treatment.
Title: RIN1 exhibits oncogenic property to suppress apoptosis and its aberrant accumulation associates with poor prognosis in melanoma.
RIN1 expression could be a potential prognostic predictor for bladder urothelial carcinoma (UC) patients.
Title: Overexpression of RIN1 associates with tumor grade and progression in patients of bladder urothelial carcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (20)

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
Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. 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

RIN1__5502 (e-PCR)
- UniSTS:463865

D13S1305 (e-PCR), detects polymorphism
- UniSTS:46074

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTPase activator activity	IEA Inferred from Electronic Annotation more info
enables guanyl-nucleotide exchange factor activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables small GTPase binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in endocytosis	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
is_active_in endocytic vesicle	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: ras and Rab interactor 1

Names: ras inhibitor 1; ras inhibitor JC99; ras inhibitor RIN1; ras interaction/interference 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_001363559.2 → NP_001350488.1 ras and Rab interactor 1 isoform 2

Status: VALIDATED

Source sequence(s)

AP001107

UniProtKB/TrEMBL

E9PNR2

Related

ENST00000526246.5

Conserved Domains (3) summary

smart00167
Location:461 → 579

VPS9; Domain present in VPS9

cl00155
Location:599 → 676

UBQ; Ubiquitin-like proteins

cl15255
Location:30 → 130

SH2; Src homology 2 (SH2) domain
NM_001363560.2 → NP_001350489.1 ras and Rab interactor 1 isoform 3

Status: VALIDATED

Source sequence(s)

AP001107

UniProtKB/TrEMBL

A0A0S2Z4T5, E9PNR2

Conserved Domains (3) summary

smart00167
Location:429 → 545

VPS9; Domain present in VPS9

cd10393
Location:58 → 158

SH2_RIN1; Src homology 2 (SH2) domain found in Ras and Rab interactor 1 (RIN1)-like proteins

cl00155
Location:565 → 642

UBQ; Ubiquitin-like proteins
NM_004292.3 → NP_004283.2 ras and Rab interactor 1 isoform 1

See identical proteins and their annotated locations for NP_004283.2

Status: VALIDATED

Source sequence(s)

AP001107, BC014417, BG163919, BQ956294, L36463

Consensus CDS

CCDS31614.1

UniProtKB/Swiss-Prot

O15010, Q00427, Q13671, Q96CC8

UniProtKB/TrEMBL

A0A0S2Z4U0

Related

ENSP00000310406.4, ENST00000311320.9

Conserved Domains (3) summary

smart00167
Location:489 → 607

VPS9; Domain present in VPS9

cl00155
Location:627 → 704

UBQ; Ubiquitin-like proteins

cl15255
Location:58 → 158

SH2; Src homology 2 (SH2) domain