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] See more...

Aliases for RIN3 Gene

Aliases for RIN3 Gene

  • Ras And Rab Interactor 3 2 3 3 4 5
  • Ras Interaction/Interference Protein 3 3 4
  • RAB5 Interacting Protein 3 3
  • FLJ22439 2
  • RIN3 5

External Ids for RIN3 Gene

Previous GeneCards Identifiers for RIN3 Gene

  • GC14P090625
  • GC14P086798
  • GC14P090970
  • GC14P091012
  • GC14P092049
  • GC14P092980
  • GC14P073162

Summaries for RIN3 Gene

Entrez Gene Summary for RIN3 Gene

  • 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]

GeneCards Summary for RIN3 Gene

RIN3 (Ras And Rab Interactor 3) is a Protein Coding gene. Diseases associated with RIN3 include Paget's Disease Of Bone. Among its related pathways are Vesicle-mediated transport and RAB GEFs exchange GTP for GDP on RABs. Gene Ontology (GO) annotations related to this gene include GTPase activator activity and Rab guanyl-nucleotide exchange factor activity. An important paralog of this gene is RIN2.

UniProtKB/Swiss-Prot Summary for RIN3 Gene

  • Ras effector protein that functions as a guanine nucleotide exchange (GEF) for RAB5B and RAB31, by exchanging bound GDP for free GTP. Required for normal RAB31 function.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RIN3 Gene

Genomics for RIN3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RIN3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RIN3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RIN3

Top Transcription factor binding sites by QIAGEN in the RIN3 gene promoter:
  • AML1a
  • C/EBPalpha
  • CHOP-10
  • E47
  • Msx-1
  • SRF
  • SRF (504 AA)
  • TBP
  • TFIID

Genomic Locations for RIN3 Gene

Latest Assembly
chr14:92,513,773-92,688,994
(GRCh38/hg38)
Size:
175,222 bases
Orientation:
Plus strand

Previous Assembly
chr14:92,980,125-93,155,339
(GRCh37/hg19 by Entrez Gene)
Size:
175,215 bases
Orientation:
Plus strand

chr14:92,980,118-93,155,339
(GRCh37/hg19 by Ensembl)
Size:
175,222 bases
Orientation:
Plus strand

Genomic View for RIN3 Gene

Genes around RIN3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RIN3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RIN3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RIN3 Gene

Proteins for RIN3 Gene

  • Protein details for RIN3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TB24-RIN3_HUMAN
    Recommended name:
    Ras and Rab interactor 3
    Protein Accession:
    Q8TB24
    Secondary Accessions:
    • Q76LB3
    • Q8NF30
    • Q8TEE8
    • Q8WYP4
    • Q9H6A5
    • Q9HAG1

    Protein attributes for RIN3 Gene

    Size:
    985 amino acids
    Molecular mass:
    107854 Da
    Quaternary structure:
    • Interacts with CD2AP, RAB5B, RAB31 and BIN1.
    SequenceCaution:
    • Sequence=BAB13888.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305}; Sequence=BAB15357.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAC03432.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RIN3 Gene

    Alternative splice isoforms for RIN3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RIN3 Gene

Post-translational modifications for RIN3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RIN3 Gene

Domains & Families for RIN3 Gene

Gene Families for RIN3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RIN3 Gene

InterPro:
Blocks:
  • RA domain
  • Vacuolar sorting protein 9

Suggested Antigen Peptide Sequences for RIN3 Gene

GenScript: Design optimal peptide antigens:
  • RIN3 protein (Q6NSK7_HUMAN)
  • Ras interaction/interference protein 3 (RIN3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8TB24

UniProtKB/Swiss-Prot:

RIN3_HUMAN :
  • Belongs to the RIN (Ras interaction/interference) family.
Family:
  • Belongs to the RIN (Ras interaction/interference) family.
genes like me logo Genes that share domains with RIN3: view

Function for RIN3 Gene

Molecular function for RIN3 Gene

UniProtKB/Swiss-Prot Function:
Ras effector protein that functions as a guanine nucleotide exchange (GEF) for RAB5B and RAB31, by exchanging bound GDP for free GTP. Required for normal RAB31 function.

Phenotypes From GWAS Catalog for RIN3 Gene

Gene Ontology (GO) - Molecular Function for RIN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005085 guanyl-nucleotide exchange factor activity IMP 21586568
GO:0005096 GTPase activator activity IEA --
GO:0005515 protein binding IPI 17474147
GO:0031267 small GTPase binding TAS 18486601
genes like me logo Genes that share ontologies with RIN3: view
genes like me logo Genes that share phenotypes with RIN3: view

Animal Models for RIN3 Gene

MGI Knock Outs for RIN3:
  • Rin3 Rin3<tm1.1(KOMP)Vlcg>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RIN3

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RIN3 Gene

Localization for RIN3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RIN3 Gene

Cytoplasm. Cytoplasmic vesicle. Early endosome. Note=Activation of tyrosine phosphorylation signaling induces translocation to cytoplasmic vesicles. {ECO:0000269 PubMed:18486601}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RIN3 gene
Compartment Confidence
endosome 5
cytosol 5
nucleus 3
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for RIN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 18486601
GO:0005768 endosome IEA --
GO:0005769 early endosome IEA,IDA 21586568
GO:0005829 cytosol TAS --
GO:0030139 endocytic vesicle IDA 18486601
genes like me logo Genes that share ontologies with RIN3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RIN3 Gene

Pathways & Interactions for RIN3 Gene

genes like me logo Genes that share pathways with RIN3: view

Pathways by source for RIN3 Gene

Gene Ontology (GO) - Biological Process for RIN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002091 negative regulation of receptor internalization IMP 23185384
GO:0006897 endocytosis NAS 11733506
GO:0007165 signal transduction IEA --
GO:0043547 positive regulation of GTPase activity IEA --
GO:0050790 regulation of catalytic activity IEA --
genes like me logo Genes that share ontologies with RIN3: view

No data available for SIGNOR curated interactions for RIN3 Gene

Drugs & Compounds for RIN3 Gene

(3) Drugs for RIN3 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with RIN3: view

Transcripts for RIN3 Gene

mRNA/cDNA for RIN3 Gene

2 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RIN3

Alternative Splicing Database (ASD) splice patterns (SP) for RIN3 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12
SP1: -
SP2: -
SP3:
SP4: -
SP5: - - - - - - - -
SP6:

Relevant External Links for RIN3 Gene

GeneLoc Exon Structure for
RIN3

Expression for RIN3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RIN3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RIN3 Gene

This gene is overexpressed in Whole Blood (x20.1).

Protein differential expression in normal tissues from HIPED for RIN3 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (22.4), Monocytes (11.8), NK cells (10.0), Blymphocyte (6.3), and Lymph node (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for RIN3 Gene



Protein tissue co-expression partners for RIN3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RIN3

SOURCE GeneReport for Unigene cluster for RIN3 Gene:

Hs.326822

mRNA Expression by UniProt/SwissProt for RIN3 Gene:

Q8TB24-RIN3_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for RIN3 Gene

  • Blood(4.4)
  • Spleen(4.3)
  • Eye(4.1)
genes like me logo Genes that share expression patterns with RIN3: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for RIN3 Gene

Orthologs for RIN3 Gene

This gene was present in the common ancestor of animals.

Orthologs for RIN3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RIN3 29 30
  • 98.81 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 82 (a)
OneToMany
-- 30
  • 56 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Rin3 29 16 30
  • 80.92 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rin3 29
  • 80.74 (n)
Dog
(Canis familiaris)
Mammalia RIN3 30
  • 75 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia RIN3 30
  • 74 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia RIN3 30
  • 57 (a)
OneToOne
Chicken
(Gallus gallus)
Aves RIN3 29 30
  • 63.22 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RIN3 30
  • 56 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rin3 29
  • 64.59 (n)
Str.7371 29
Zebrafish
(Danio rerio)
Actinopterygii RIN3 30
  • 40 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta spri 30
  • 10 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea rin-1 30
  • 11 (a)
OneToMany
Species where no ortholog for RIN3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for RIN3 Gene

ENSEMBL:
Gene Tree for RIN3 (if available)
TreeFam:
Gene Tree for RIN3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RIN3: view image
Alliance of Genome Resources:
Additional Orthologs for RIN3

Paralogs for RIN3 Gene

Paralogs for RIN3 Gene

(2) SIMAP similar genes for RIN3 Gene using alignment to 5 proteins:

  • RIN3_HUMAN
  • G3V2I7_HUMAN
  • G3V534_HUMAN
  • H0YJ83_HUMAN
  • Q6NSK7_HUMAN
genes like me logo Genes that share paralogs with RIN3: view

Variants for RIN3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RIN3 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
rs56208303 Benign: not provided 92,676,542(+) G/A
NM_024832.5(RIN3):c.2403G>A (p.Thr801=)
SYNONYMOUS
rs12434929 -- p.Gly613Ala
rs2274542 -- p.Glu111Lys
rs3742717 -- p.Thr425Metp.Thr425Ile
rs3829947 -- p.His215Prop.His215Leup.His215Arg

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for RIN3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for RIN3 Gene

Variant ID Type Subtype PubMed ID
esv1248112 CNV deletion 17803354
esv1485745 CNV insertion 17803354
esv1499156 CNV insertion 17803354
esv1630206 CNV insertion 17803354
esv23961 CNV gain 19812545
esv2676688 CNV deletion 23128226
esv2749024 CNV deletion 23290073
esv275342 CNV loss 21479260
esv3635340 CNV gain 21293372
esv3635341 CNV loss 21293372
nsv1040081 CNV gain 25217958
nsv1160201 CNV duplication 26073780
nsv1399 CNV insertion 18451855
nsv456399 CNV loss 19166990
nsv509544 CNV insertion 20534489
nsv513417 CNV insertion 21212237
nsv522954 CNV loss 19592680
nsv565523 CNV loss 21841781
nsv565524 CNV loss 21841781
nsv827027 CNV gain 20364138
nsv832860 CNV gain 17160897
nsv952883 CNV duplication 24416366

Variation tolerance for RIN3 Gene

Residual Variation Intolerance Score: 68.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.37; 96.34% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RIN3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RIN3
Leiden Open Variation Database (LOVD)
RIN3

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RIN3 Gene

Disorders for RIN3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for RIN3 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
paget's disease of bone
  • familial paget's disease of bone
- elite association - COSMIC cancer census association via MalaCards
Search RIN3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RIN3

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with RIN3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RIN3 Gene

Publications for RIN3 Gene

  1. RIN3: a novel Rab5 GEF interacting with amphiphysin II involved in the early endocytic pathway. (PMID: 12972505) Kajiho H … Katada T (Journal of cell science 2003) 3 4 22
  2. A novel binding protein composed of homophilic tetramer exhibits unique properties for the small GTPase Rab5. (PMID: 11733506) Saito K … Katada T (The Journal of biological chemistry 2002) 2 3 4
  3. Characterization of RIN3 as a guanine nucleotide exchange factor for the Rab5 subfamily GTPase Rab31. (PMID: 21586568) Kajiho H … Katada T (The Journal of biological chemistry 2011) 3 4
  4. Genome-wide association identifies three new susceptibility loci for Paget's disease of bone. (PMID: 21623375) Albagha OM … Genetic Determinants of Paget's Disease (GDPD) Consortium (Nature genetics 2011) 3 40
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 40

Products for RIN3 Gene

Sources for RIN3 Gene