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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 Immune System and Factors involved in megakaryocyte development and platelet production. 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

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

Genomics for RBSN Gene

Regulatory Elements for RBSN Gene

Enhancers for RBSN Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03F015323 1.4 Ensembl ENCODE 10.2 -229.6 -229593 11.1 HDGF PKNOX1 WRNIP1 SIN3A FEZF1 YY1 ZNF143 FOS KLF13 ZNF263 ENSG00000230172 SH3BP5 C3orf20 RBSN METTL6 RPS3AP53 GC03P015339 PIR49400
GH03F015600 1.1 ENCODE 10.1 -502.5 -502465 2.5 HDGF PKNOX1 ARNT CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 CAPN7 SH3BP5-AS1 HACL1 RBSN METTL6 COLQ BTD
GH03F015267 1.4 Ensembl ENCODE 5.8 -174.1 -174071 10.7 HDGF PKNOX1 ARNT CREB3L1 WRNIP1 SIN3A FEZF1 ZNF2 ZNF766 CBX5 CAPN7 SH3BP5 RNU6-454P FGD5 COL6A4P1 RNU6-1024P ENSG00000270409 SH3BP5-AS1 RBSN FGD5-AS1
GH03F014266 0.8 ENCODE 8.3 +831.5 831454 2.7 CTCF MXI1 ESRRA PKNOX1 ZNF146 ZNF664 ZFHX2 GATA3 CTBP1 POLR2A SLC6A6 LSM3 XPC RBSN ENSG00000228242 ENSG00000255021 LOC105376958
GH03F015180 0.6 ENCODE 11 -81.4 -81393 0.9 PKNOX1 MTA2 TRIM22 TBX21 ZBTB40 RELA ZFHX2 IKZF1 NBN SH3BP5-AS1 RPS24P10 CAPN7 COL6A4P1 RBSN RPS3AP53
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RBSN on UCSC Golden Path with GeneCards custom track

Promoters for RBSN Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001358326 63 1801 CREB3L1 MLX ZFP64 YBX1 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 ZNF548

Genomic Location for RBSN Gene

Chromosome:
3
Start:
15,070,069 bp from pter
End:
15,099,163 bp from pter
Size:
29,095 bases
Orientation:
Minus strand

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. Binds simultaneously to RAB4A and RAB5A in vitro. Interacts with RAB4A and RAB5A that has been activated by GTP binding.
    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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RBSN Gene

Domains & Families for RBSN Gene

Gene Families for RBSN Gene

Suggested Antigen Peptide Sequences for RBSN Gene

Graphical View of Domain Structure for InterPro Entry

Q9H1K0

UniProtKB/Swiss-Prot:

RBNS5_HUMAN :
  • Contains 1 UIM (ubiquitin-interacting motif) domain.
  • Contains 1 C2H2-type zinc finger.
Domain:
  • Contains 1 UIM (ubiquitin-interacting motif) domain.
Similarity:
  • Contains 1 C2H2-type zinc finger.
  • Contains 1 FYVE-type zinc finger.
genes like me logo Genes that share domains with RBSN: view

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).

Gene Ontology (GO) - Molecular Function for RBSN Gene

GO ID Qualified GO term Evidence PubMed IDs
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

Flow Cytometry 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

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:0006896 Golgi to vacuole transport IBA --
GO:0006897 endocytosis IBA --
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

Flow Cytometry 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 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
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 and mRNA Expression by UniProt/SwissProt 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 35 34
  • 99.49 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ZFYVE20 35 34
  • 89.07 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ZFYVE20 35 34
  • 86.51 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Zfyve20 35 34
  • 84.62 (n)
OneToOne
Rbsn 16
rat
(Rattus norvegicus)
Mammalia Zfyve20 34
  • 84.34 (n)
oppossum
(Monodelphis domestica)
Mammalia ZFYVE20 35
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ZFYVE20 35
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves ZFYVE20 35 34
  • 69.04 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ZFYVE20 35
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia zfyve20 34
  • 64.9 (n)
Str.5751 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.12512 34
zebrafish
(Danio rerio)
Actinopterygii LOC569240 34
  • 61.58 (n)
zfyve20 35
  • 58 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000547 34
  • 46.78 (n)
fruit fly
(Drosophila melanogaster)
Insecta Rbsn-5 34 35
  • 46.73 (n)
worm
(Caenorhabditis elegans)
Secernentea rabs-5 34 35
  • 43.7 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PEP7 37
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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 Sequence Context AA Info Type
rs144008665 Uncertain significance 15,074,864(+) CTCCC(C/T)GTTGG reference, missense
rs10048960 -- 15,100,673(+) AGGCC(A/G)AGGTG upstream-variant-2KB
rs11128732 -- 15,086,974(+) GATCA(C/T)CTATT intron-variant
rs111316484 -- 15,085,651(+) CATGT(C/G)GCAAG intron-variant
rs111361361 -- 15,074,156(+) ATTGT(A/G)CTCTT reference, missense

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)

Relevant External Links for RBSN Gene

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

Relevant External Links for RBSN

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 J. Rare Dis. 2014) 2 3 4 64
  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. (J. Cell Biol. 2000) 2 3 4 64
  3. Rabenosyn-5 defines the fate of the transferrin receptor following clathrin-mediated endocytosis. (PMID: 22308388) Navaroli D.M. … Corvera S. (Proc. Natl. Acad. Sci. U.S.A. 2012) 3 4 64
  4. Structural basis of family-wide Rab GTPase recognition by rabenosyn- 5. (PMID: 16034420) Eathiraj S. … Lambright D.G. (Nature 2005) 3 4 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for RBSN Gene

Sources for RBSN Gene

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