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] See more...

Aliases for RBSN Gene

Aliases for RBSN Gene

  • Rabenosyn, RAB Effector 2 3 5
  • Rabenosyn-5 2 3 3 4
  • 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
  • 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. Diseases associated with RBSN include Neutropenia, Severe Congenital, 5, Autosomal Recessive and Alzheimer Disease 6. Among its related pathways are Innate Immune System and Endocytosis. Gene Ontology (GO) annotations related to this gene include Rab GTPase binding.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for RBSN Gene

Genomics for RBSN Gene

GeneHancer (GH) Regulatory Elements for RBSN Gene

Promoters and enhancers for RBSN 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 RBSN on UCSC Golden Path with GeneCards custom track

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

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)
Size:
29,091 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 (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

  • 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

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

Protein Domains for RBSN Gene

Suggested Antigen Peptide Sequences for RBSN Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ59262, highly similar to Rabenosyn-5 (B4DWY8_HUMAN)
  • Zinc finger FYVE domain-containing protein 20 (RBNS5_HUMAN)
genes like me logo Genes that share domains with RBSN: view

No data available for Graphical View of Domain Structure and 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 IEA --
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 Rbsn<tm1a(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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

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
endosome 5
plasma membrane 4
nucleus 4
cytosol 3
cytoskeleton 2
endoplasmic reticulum 2
lysosome 2
golgi apparatus 2
extracellular 1
mitochondrion 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:0016020 membrane IEA --
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

Pathways by source for RBSN Gene

5 GeneGo (Thomson Reuters) pathways for RBSN Gene
  • Cholesterol and Sphingolipids transport / Influx to the early endosome in lung (normal and CF)
  • Delta508-CFTR traffic / Sorting endosome formation in CF
  • Normal wtCFTR traffic / Sorting endosome formation
  • Transport Clathrin-coated vesicle cycle
  • wtCFTR and deltaF508 traffic / Membrane expression (norm and CF)

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:0007596 blood coagulation TAS --
GO:0015031 protein transport IEA --
GO:0016197 endosomal transport NAS 11062261
GO:0034498 early endosome to Golgi transport IMP 19139087
GO:0090160 Golgi to lysosome transport IMP 19139087
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

mRNA/cDNA for RBSN Gene

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

CRISPR Products

Inhibitory RNA Products

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

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

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, MaxQB, and MOPED for RBSN Gene



Protein tissue co-expression partners for RBSN Gene

- Elite partner

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

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 31 30
  • 99.49 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ZFYVE20 31 30
  • 89.07 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ZFYVE20 31 30
  • 86.51 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Zfyve20 31 30
  • 84.62 (n)
OneToOne
Rbsn 17
rat
(Rattus norvegicus)
Mammalia Zfyve20 30
  • 84.34 (n)
oppossum
(Monodelphis domestica)
Mammalia ZFYVE20 31
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ZFYVE20 31
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves ZFYVE20 31 30
  • 69.04 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ZFYVE20 31
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia zfyve20 30
  • 64.9 (n)
Str.5751 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.12512 30
zebrafish
(Danio rerio)
Actinopterygii LOC569240 30
  • 61.58 (n)
zfyve20 31
  • 58 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000547 30
  • 46.78 (n)
fruit fly
(Drosophila melanogaster)
Insecta Rbsn-5 31 30
  • 46.73 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea rabs-5 31 30
  • 43.7 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PEP7 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for RBSN: view image

Paralogs for RBSN Gene

No data available for Paralogs for RBSN Gene

Variants for RBSN Gene

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

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
718312 Benign: not provided 15,073,869(-) G/A SYNONYMOUS_VARIANT
725270 Benign: not provided 15,075,615(-) C/T SYNONYMOUS_VARIANT
761689 Likely Benign: not provided 15,077,103(-) G/A SYNONYMOUS_VARIANT
764589 Likely Benign: not provided 15,074,655(-) G/A SYNONYMOUS_VARIANT
775848 Benign: not provided 15,074,055(-) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for RBSN Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for RBSN Gene

MalaCards: The human disease database

(2) MalaCards diseases for RBSN Gene - From: Orphanet and DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search RBSN in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RBSN

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

No data available for 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 54
  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 54
  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 54
  4. Structural basis of family-wide Rab GTPase recognition by rabenosyn-5. (PMID: 16034420) Eathiraj S … Lambright DG (Nature 2005) 3 4 54
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54

Products for RBSN Gene

Sources for RBSN Gene