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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 Regulation of CFTR activity (norm and CF) and Immune System. 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around RBSN on UCSC Golden Path with GeneCards custom track

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

Proteomics data for RBSN Gene at MOPED

Post-translational modifications for RBSN Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RBSN Gene

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).
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

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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}.

Gene Ontology (GO) - Cellular Components for RBSN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome NAS 11062261
GO:0010009 cytoplasmic side of endosome membrane IBA --
GO:0070062 extracellular exosome IDA 18570454
genes like me logo Genes that share ontologies with RBSN: view

No data available for Subcellular locations from COMPARTMENTS for RBSN Gene

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:0006897 endocytosis IBA --
GO:0007596 blood coagulation TAS --
GO:0016197 endosomal transport NAS 11062261
GO:0034058 endosomal vesicle fusion IBA --
GO:0045324 late endosome to vacuole transport 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

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 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, and MOPED for RBSN Gene



genes like me logo Genes that share expression patterns with RBSN: view

Protein tissue co-expression partners for RBSN Gene

- Elite partner

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
cow
(Bos Taurus)
Mammalia ZFYVE20 35
  • 86.51 (n)
  • 87.84 (a)
ZFYVE20 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ZFYVE20 35
  • 89.07 (n)
  • 90.78 (a)
ZFYVE20 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Zfyve20 35
  • 84.62 (n)
  • 85.18 (a)
Rbsn 16
Zfyve20 36
  • 84 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ZFYVE20 35
  • 99.49 (n)
  • 99.23 (a)
ZFYVE20 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Zfyve20 35
  • 84.34 (n)
  • 84.94 (a)
oppossum
(Monodelphis domestica)
Mammalia ZFYVE20 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ZFYVE20 36
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves ZFYVE20 35
  • 69.04 (n)
  • 70.62 (a)
ZFYVE20 36
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ZFYVE20 36
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.5751 35
zfyve20 35
  • 64.9 (n)
  • 65.6 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.12512 35
zebrafish
(Danio rerio)
Actinopterygii LOC569240 35
  • 61.58 (n)
  • 59.97 (a)
zfyve20 36
  • 58 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000547 35
  • 46.78 (n)
  • 36.59 (a)
fruit fly
(Drosophila melanogaster)
Insecta Rbsn-5 35
  • 46.73 (n)
  • 35.27 (a)
Rbsn-5 36
  • 31 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea rabs-5 35
  • 43.7 (n)
  • 33.82 (a)
rabs-5 36
  • 25 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PEP7 38
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 38 (a)
OneToOne
Species with no ortholog for RBSN:
  • 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
rs9868848 - 15,074,365(+) AGCTA(A/G)GTGAA reference, missense
rs9851219 - 15,074,216(+) AGTAG(C/T)GGCCT reference, missense
rs9830744 - 15,073,971(+) CTGTC(C/T)ATCTC reference, missense
VAR_072416 -
rs3831 -- 15,073,763(-) GGGCA(A/C)CTTTG utr-variant-3-prime

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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Structural Variations from Database of Genomic Variants (DGV) and Relevant External Links 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 67
  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
  3. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  4. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3
  5. A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. (PMID: 26638075) Gupta G.D. … Pelletier L. (Cell 2015) 3

Products for RBSN Gene

Sources for RBSN Gene

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