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RIN3 Ras and Rab interactor 3 [ Homo sapiens (human) ]

Gene ID: 79890, updated on 29-Mar-2023

Summary

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Official Symbol
RIN3provided by HGNC
Official Full Name
Ras and Rab interactor 3provided by HGNC
Primary source
HGNC:HGNC:18751
See related
Ensembl:ENSG00000100599 MIM:610223; AllianceGenome:HGNC:18751
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
Summary: This protein encoded by this gene is a member of the RIN family of Ras interaction-interference proteins, which are binding partners to the RAB5 small GTPases. The protein functions as a guanine nucleotide exchange for RAB5B and RAB31. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
Expression
Broad expression in bone marrow (RPKM 13.0), spleen (RPKM 13.0) and 24 other tissues See more
Orthologs
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Genomic context

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See RIN3 in Genome Data Viewer
Location:
14q32.12
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (92513781..92688994)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (86743365..86920782)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (92980125..93155339)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene solute carrier family 24 member 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:92966603-92967104 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:92967105-92967604 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:92980671-92981174 Neighboring gene uncharacterized LOC124903365 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:92990985-92991808 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:92994044-92994801 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:92994802-92995558 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:92997484-92997984 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:92997985-92998485 Neighboring gene NANOG hESC enhancer GRCh37_chr14:93039726-93040227 Neighboring gene Sharpr-MPRA regulatory region 14383 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr14:93090702-93091901 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:93122369-93122870 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:93128149-93128650 Neighboring gene uncharacterized LOC124903364 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:93152626-93153253 Neighboring gene Sharpr-MPRA regulatory region 13986 Neighboring gene Sharpr-MPRA regulatory region 11533 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:93175352-93175977 Neighboring gene legumain

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Genetic Variation in RIN3 in the Belgian Population Supports Its Involvement in the Pathogenesis of Paget's Disease of Bone and Modifies the Age of Onset. De Ridder R, et al. Calcif Tissue Int, 2019 Jun. PMID 30726512
  2. Targeted sequencing of the Paget's disease associated 14q32 locus identifies several missense coding variants in RIN3 that predispose to Paget's disease of bone. Vallet M, et al. Hum Mol Genet, 2015 Jun 1. PMID 25701875, Free PMC Article
  3. Tyr-phosphorylation signals translocate RIN3, the small GTPase Rab5-GEF, to early endocytic vesicles. Yoshikawa M, et al. Biochem Biophys Res Commun, 2008 Jul 18. PMID 18486601
  4. The neuronal-specific isoform of BIN1 regulates β-secretase cleavage of APP and Aβ generation in a RIN3-dependent manner. Bhattacharyya R, et al. Sci Rep, 2022 Mar 3. PMID 35241726, Free PMC Article
  5. Differential Recognition Preferences of the Three Src Homology 3 (SH3) Domains from the Adaptor CD2-associated Protein (CD2AP) and Direct Association with Ras and Rab Interactor 3 (RIN3). Rouka E, et al. J Biol Chem, 2015 Oct 16. PMID 26296892, Free PMC Article

See all (32) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The neuronal-specific isoform of BIN1 regulates beta-secretase cleavage of APP and Abeta generation in a RIN3-dependent manner.
    Title: The neuronal-specific isoform of BIN1 regulates β-secretase cleavage of APP and Aβ generation in a RIN3-dependent manner.
  2. Genetic Variation in RIN3 in the Belgian Population Supports Its Involvement in the Pathogenesis of Paget's Disease of Bone and Modifies the Age of Onset.
    Title: Genetic Variation in RIN3 in the Belgian Population Supports Its Involvement in the Pathogenesis of Paget's Disease of Bone and Modifies the Age of Onset.
  3. RIN3 may be involved in endolysosomal transport-a process known to be important to development of early onset AD.
    Title: Early-Onset Alzheimer Disease and Candidate Risk Genes Involved in Endolysosomal Transport.
  4. RIN3 may contribute to Paget's disease of bone susceptibility by affecting osteoclast function.
    Title: Targeted sequencing of the Paget's disease associated 14q32 locus identifies several missense coding variants in RIN3 that predispose to Paget's disease of bone.
  5. discovered novel interaction candidates for CD2AP and characterized subtle yet significant differences in the recognition preferences of its three SH3 domains for c-CBL, ALIX, and RIN3
    Title: Differential Recognition Preferences of the Three Src Homology 3 (SH3) Domains from the Adaptor CD2-associated Protein (CD2AP) and Direct Association with Ras and Rab Interactor 3 (RIN3).
  6. The study reports a novel association between a variant within RIN3 and lower limb-bone mineral density and note its previous association with risk of Paget's disease.
    Title: Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.
  7. RIN3 is a negative regulator of mast cell responses to SCF
    Title: RIN3 is a negative regulator of mast cell responses to SCF.
  8. RIN3 specifically acts as a GEF for Rab31.
    Title: Characterization of RIN3 as a guanine nucleotide exchange factor for the Rab5 subfamily GTPase Rab31.
  9. 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.
  10. Tyrosine-phosphorylation signals are involved in the RIN3 activation and translocation to early endocytic vesicles.
    Title: Tyr-phosphorylation signals translocate RIN3, the small GTPase Rab5-GEF, to early endocytic vesicles.
Submit: New GeneRIF Correction See all GeneRIFs (11)

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
Genome-Wide Association Identifies Regulatory Loci Associated with Distinct Local Histogram Emphysema Patterns.
EBI GWAS Catalog
Genome-wide association identifies three new susceptibility loci for Paget's disease of bone.
EBI GWAS Catalog
Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes.
EBI GWAS Catalog
IREB2 and GALC are Associated with Pulmonary Artery Enlargement in Chronic Obstructive Pulmonary Disease.
EBI GWAS Catalog
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.
EBI GWAS Catalog
Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.
EBI GWAS Catalog
Risk loci for chronic obstructive pulmonary disease: a genome-wide association study and meta-analysis.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ11700, FLJ22439, DKFZp762H1613

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
 PubMed 
enables guanyl-nucleotide exchange factor activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables guanyl-nucleotide exchange factor activity TAS
Traceable Author Statement
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
 PubMed 
enables small GTPase binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables small GTPase binding TAS
Traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in endocytosis NAS
Non-traceable Author Statement
more info
 PubMed 
acts_upstream_of negative regulation of mast cell chemotaxis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within negative regulation of receptor internalization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within regulation of vesicle size IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in signal transduction IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in axon ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasmic vesicle IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in dendrite ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
located_in early endosome IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in endocytic vesicle IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
located_in endocytic vesicle IDA
Inferred from Direct Assay
more info
 PubMed 
located_in neuronal cell body ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
located_in vesicle IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
ras and Rab interactor 3
Names
RAB5 interacting protein 3
ras interaction/interference protein 3

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)

  1. NM_001319987.2 → NP_001306916.1  ras and Rab interactor 3 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and has multiple coding region differences, compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (2) with a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AB081753, AK026092, AK128338, BC032614
    UniProtKB/Swiss-Prot
    Q8TB24
    UniProtKB/TrEMBL
    Q6ZRC2
    Related
    ENST00000418924.6
    Conserved Domains (4) summary
    TIGR03483
    Location:240 → 339
    FtsZ_alphas_C; cell division protein FtsZ, alphaProteobacterial C-terminal extension
    pfam02204
    Location:665 → 767
    VPS9; Vacuolar sorting protein 9 (VPS9) domain
    cl00155
    Location:807 → 886
    UBQ; Ubiquitin-like proteins
    cl15255
    Location:9 → 78
    SH2; Src homology 2 (SH2) domain

  2. NM_024832.5 → NP_079108.3  ras and Rab interactor 3 isoform 1

    See identical proteins and their annotated locations for NP_079108.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AB081753, AK026092, BC025248, BC070062, BX248258, DR003779
    Consensus CDS
    CCDS32144.1
    UniProtKB/Swiss-Prot
    Q8TB24, Q9HAG1
    UniProtKB/TrEMBL
    Q6NSK7, Q86U22
    Related
    ENSP00000216487.7, ENST00000216487.12
    Conserved Domains (4) summary
    cd10395
    Location:52 → 153
    SH2_RIN3; Src homology 2 (SH2) domain found in Ras and Rab interactor 3 (RIN3)-like proteins
    TIGR03483
    Location:315 → 414
    FtsZ_alphas_C; cell division protein FtsZ, alphaProteobacterial C-terminal extension
    pfam02204
    Location:740 → 842
    VPS9; Vacuolar sorting protein 9 (VPS9) domain
    cl00155
    Location:882 → 961
    UBQ; Ubiquitin-like proteins

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    92513781..92688994
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    86743365..86920782
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_024892.1: Suppressed sequence

    Description
    NM_024892.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8TB24.4 GenPept UniProtKB/Swiss-Prot:Q8TB24

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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