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Aliases for RBSN Gene

Aliases for RBSN Gene

  • Rabenosyn, RAB Effector 2 3 5
  • FYVE Finger-Containing Rab5 Effector Protein Rabenosyn-5 3 4
  • Zinc Finger, FYVE Domain Containing 20 2 3
  • RAB Effector RBSN 3 4
  • 110 KDa Protein 3 4
  • Rabenosyn-5 2 3
  • ZFYVE20 3 4
  • Zinc Finger FYVE Domain-Containing Protein 20 4

External Ids for RBSN Gene

Previous HGNC Symbols for RBSN Gene

  • ZFYVE20

Summaries for RBSN Gene

Entrez Gene Summary for RBSN Gene

  • This gene encodes a protein that belongs to the FYVE zinc finger family of proteins. The encoded protein interacts with Ras-related proteins that regulate membrane trafficking. A missense mutation in this gene is associated with a defect in the early endocytic pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]

GeneCards Summary for RBSN Gene

RBSN (Rabenosyn, RAB Effector) is a Protein Coding gene. Among its related pathways are Delta508-CFTR traffic / Sorting endosome formation in CF and Response to elevated platelet cytosolic Ca2+. Gene Ontology (GO) annotations related to this gene include Rab GTPase binding.

UniProtKB/Swiss-Prot for RBSN Gene

  • Rab4/Rab5 effector protein acting in early endocytic membrane fusion and membrane trafficking of recycling endosomes. Required for endosome fusion either homotypically or with clathrin coated vesicles. Plays a role in the lysosomal trafficking of CTSD/cathepsin D from the Golgi to lysosomes. Also promotes the recycling of transferrin directly from early endosomes to the plasma membrane. Binds phospholipid vesicles containing phosphatidylinositol 3-phosphate (PtdInsP3) (PubMed:11062261, PubMed:11788822, PubMed:15020713). Plays a role in the recycling of transferrin receptor to the plasma membrane (PubMed:22308388).

Gene Wiki entry for RBSN Gene

Additional gene information for RBSN Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RBSN Gene

Genomics for RBSN Gene

GeneHancer (GH) Regulatory Elements for RBSN Gene

Promoters and enhancers for RBSN Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03I015097 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 +0.3 328 2.4 CLOCK MLX ZFP64 DMAP1 YBX1 YY1 SLC30A9 ZNF213 E2F8 ZNF416 GC03M015143 RBSN NR2C2 CCDC174 SH3BP5-AS1 CAPN7 ENSG00000228242 XPC MRPS25 HACL1
GH03I015323 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 31 -229.6 -229593 11.1 HDGF PKNOX1 CLOCK FOXA2 SIN3A FEZF1 ZBTB7B IRF4 YY1 ZNF143 SH3BP5 RBSN SH3BP5-AS1 CCDC174 METTL6 NR2C2 ENSG00000270409 CAPN7 HACL1 RPS3AP53
GH03I014946 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE 5.2 +150.6 150586 4.7 PKNOX1 CLOCK SMAD1 ARID4B NEUROD1 SIN3A DMAP1 ZBTB7B YY1 SLC30A9 NR2C2 FGD5-AS1 CCDC174 SH3BP5-AS1 ENSG00000228242 CAPN7 EAF1-AS1 HACL1 XPC METTL6
GH03I015267 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 5.8 -171.9 -171890 6.3 HDGF HNRNPUL1 PKNOX1 ARNT SIN3A IRF4 POLR2B CBX5 ZNF207 ZNF143 SH3BP5 CCDC174 SH3BP5-AS1 CAPN7 NR2C2 RNU6-454P COL6A4P1 RNU6-1024P RBSN FGD5-AS1
GH03I014266 Enhancer 0.9 ENCODE dbSUPER 8.4 +831.5 831454 2.7 CTCF PKNOX1 ZNF146 ESRRA MXI1 NFIB ZNF664 ZFHX2 CTBP1 GATA3 SLC6A6 LSM3 XPC RBSN ENSG00000228242 ENSG00000255021 LOC105376958
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RBSN on UCSC Golden Path with GeneCards custom track

Genomic Locations for RBSN Gene

Genomic Locations for RBSN Gene
chr3:15,070,069-15,099,163
(GRCh38/hg38)
Size:
29,095 bases
Orientation:
Minus strand
chr3:15,111,580-15,140,670
(GRCh37/hg19)

Genomic View for RBSN Gene

Genes around RBSN on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for RBSN Gene

Proteins for RBSN Gene

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

    Protein Symbol:
    Q9H1K0-RBNS5_HUMAN
    Recommended name:
    Rabenosyn-5
    Protein Accession:
    Q9H1K0
    Secondary Accessions:
    • B4DWY8
    • C9J4P5
    • Q3KP30
    • Q59EY8
    • Q8NAQ1

    Protein attributes for RBSN Gene

    Size:
    784 amino acids
    Molecular mass:
    88870 Da
    Quaternary structure:
    • Interacts with EHD1, RAB4A, RAB5A, RAB14, RAB22A, RAB24 and VPS45 (PubMed:11062261, PubMed:15020713, PubMed:16034420). Binds simultaneously to RAB4A and RAB5A in vitro (PubMed:16034420). Interacts with RAB4A and RAB5A that has been activated by GTP binding (PubMed:11062261, PubMed:16034420, PubMed:20098723, PubMed:11788822).
    SequenceCaution:
    • Sequence=BAC03860.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAD92910.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RBSN Gene

    Alternative splice isoforms for RBSN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RBSN Gene

Post-translational modifications for RBSN Gene

No Post-translational modifications

No data available for DME Specific Peptides for RBSN Gene

Domains & Families for RBSN Gene

Gene Families for RBSN Gene

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

Suggested Antigen Peptide Sequences for RBSN Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with RBSN: view

No data available for UniProtKB/Swiss-Prot for RBSN Gene

Function for RBSN Gene

Molecular function for RBSN Gene

UniProtKB/Swiss-Prot Function:
Rab4/Rab5 effector protein acting in early endocytic membrane fusion and membrane trafficking of recycling endosomes. Required for endosome fusion either homotypically or with clathrin coated vesicles. Plays a role in the lysosomal trafficking of CTSD/cathepsin D from the Golgi to lysosomes. Also promotes the recycling of transferrin directly from early endosomes to the plasma membrane. Binds phospholipid vesicles containing phosphatidylinositol 3-phosphate (PtdInsP3) (PubMed:11062261, PubMed:11788822, PubMed:15020713). Plays a role in the recycling of transferrin receptor to the plasma membrane (PubMed:22308388).

Phenotypes From GWAS Catalog for RBSN Gene

Gene Ontology (GO) - Molecular Function for RBSN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0005515 protein binding IPI 15020713
GO:0008270 zinc ion binding NAS 11062261
GO:0017137 Rab GTPase binding IBA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with RBSN: view
genes like me logo Genes that share phenotypes with RBSN: view

Animal Models for RBSN Gene

MGI Knock Outs for RBSN:
  • Rbsn tm1a(EUCOMM)Wtsi

Animal Model Products

Inhibitory RNA Products

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

Localization for RBSN Gene

Subcellular locations from UniProtKB/Swiss-Prot for RBSN Gene

Cell membrane; Lipid-anchor; Cytoplasmic side. Early endosome membrane; Lipid-anchor. Note=Enriched in endosomes that are in close proximity to clathrin-enriched regions at the cell surface. {ECO:0000269 PubMed:22308388}.

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 RBSN gene
Compartment Confidence
extracellular 5
endosome 5
plasma membrane 4
nucleus 4
cytosol 3
cytoskeleton 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RBSN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome NAS 11062261
GO:0005829 cytosol IEA --
GO:0005886 plasma membrane IEA --
GO:0010008 endosome membrane TAS --
GO:0010009 cytoplasmic side of endosome membrane IBA --
genes like me logo Genes that share ontologies with RBSN: view

Pathways & Interactions for RBSN Gene

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

SIGNOR curated interactions for RBSN Gene

Is activated by:

Gene Ontology (GO) - Biological Process for RBSN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000011 vacuole inheritance IBA --
GO:0006810 transport IEA --
GO:0006895 Golgi to endosome transport IBA --
GO:0006897 endocytosis IBA --
GO:0007596 blood coagulation TAS --
genes like me logo Genes that share ontologies with RBSN: view

Drugs & Compounds for RBSN Gene

(1) Drugs for RBSN Gene - From: HMDB

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

Transcripts for RBSN Gene

Inhibitory RNA Products

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

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12 ^ 13 ^
SP1: - - - -
SP2: - - -
SP3: - -
SP4: - - - - -
SP5:
SP6:
SP7: - -
SP8: - -
SP9: - - -
SP10: -
SP11: - - -
SP12:

ExUns: 14 ^ 15 ^ 16
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for RBSN Gene

GeneLoc Exon Structure for
RBSN
ECgene alternative splicing isoforms for
RBSN

Expression for RBSN Gene

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

Protein differential expression in normal tissues from HIPED for RBSN Gene

This gene is overexpressed in Fetal Brain (12.1) and Frontal cortex (9.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RBSN Gene



Protein tissue co-expression partners for RBSN Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RBSN Gene:

RBSN

Evidence on tissue expression from TISSUES for RBSN Gene

  • Nervous system(4.7)
  • Liver(4.4)
genes like me logo Genes that share expression patterns with RBSN: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RBSN Gene

Orthologs for RBSN Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for RBSN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ZFYVE20 34 33
  • 99.49 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ZFYVE20 34 33
  • 89.07 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ZFYVE20 34 33
  • 86.51 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Zfyve20 34 33
  • 84.62 (n)
OneToOne
Rbsn 16
rat
(Rattus norvegicus)
Mammalia Zfyve20 33
  • 84.34 (n)
oppossum
(Monodelphis domestica)
Mammalia ZFYVE20 34
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ZFYVE20 34
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves ZFYVE20 34 33
  • 69.04 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ZFYVE20 34
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia zfyve20 33
  • 64.9 (n)
Str.5751 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.12512 33
zebrafish
(Danio rerio)
Actinopterygii LOC569240 33
  • 61.58 (n)
zfyve20 34
  • 58 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000547 33
  • 46.78 (n)
fruit fly
(Drosophila melanogaster)
Insecta Rbsn-5 34 33
  • 46.73 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea rabs-5 34 33
  • 43.7 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PEP7 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 38 (a)
OneToOne
Species where no ortholog for RBSN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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 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 RBSN Gene

ENSEMBL:
Gene Tree for RBSN (if available)
TreeFam:
Gene Tree for RBSN (if available)

Paralogs for RBSN Gene

No data available for Paralogs for RBSN Gene

Variants for RBSN Gene

Sequence variations from dbSNP and Humsavar for RBSN Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs144008665 uncertain-significance, not provided 15,074,864(-) C/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs1000077294 -- 15,098,050(-) G/ genic_upstream_transcript_variant, intron_variant
rs1000196032 -- 15,080,037(-) G/T genic_downstream_transcript_variant, intron_variant
rs1000205124 -- 15,092,393(-) TTTTTTTT/TTTT/TTTTTTTTT genic_downstream_transcript_variant, genic_upstream_transcript_variant, intron_variant
rs1000206691 -- 15,083,445(-) C/T genic_downstream_transcript_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
dgv4687n100 CNV gain 25217958
esv2759130 CNV gain 17122850
nsv428413 CNV gain 18775914
nsv834620 CNV gain 17160897

Variation tolerance for RBSN Gene

Residual Variation Intolerance Score: 47.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.61; 78.15% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RBSN Gene

Human Gene Mutation Database (HGMD)
RBSN
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RBSN

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

Disorders for RBSN Gene

Additional Disease Information for RBSN

No disorders were found for RBSN Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RBSN Gene

Publications for RBSN Gene

  1. Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic trafficking. (PMID: 25233840) Stockler S … van Karnebeek C (Orphanet journal of rare diseases 2014) 2 3 4 58
  2. Rabenosyn-5, a novel Rab5 effector, is complexed with hVPS45 and recruited to endosomes through a FYVE finger domain. (PMID: 11062261) Nielsen E … Zerial M (The Journal of cell biology 2000) 2 3 4 58
  3. Rabenosyn-5 defines the fate of the transferrin receptor following clathrin-mediated endocytosis. (PMID: 22308388) Navaroli DM … Corvera S (Proceedings of the National Academy of Sciences of the United States of America 2012) 3 4 58
  4. Structural basis of family-wide Rab GTPase recognition by rabenosyn-5. (PMID: 16034420) Eathiraj S … Lambright DG (Nature 2005) 3 4 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for RBSN Gene

  • Addgene plasmids for RBSN

Sources for RBSN Gene

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