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Aliases for RABEP1 Gene

Aliases for RABEP1 Gene

  • Rabaptin, RAB GTPase Binding Effector Protein 1 2 3
  • Renal Carcinoma Antigen NY-REN-17 3 4
  • Rabaptin-5alpha 3 4
  • Rabaptin-4 3 4
  • Rabaptin-5 3 4
  • RAB5EP 3 4
  • RABPT5 3 4
  • Neurocrescin 3
  • RABPT5A 4

External Ids for RABEP1 Gene

Previous GeneCards Identifiers for RABEP1 Gene

  • GC17P005130
  • GC17P005386
  • GC17P005127
  • GC17P005076
  • GC17P005185

Summaries for RABEP1 Gene

GeneCards Summary for RABEP1 Gene

RABEP1 (Rabaptin, RAB GTPase Binding Effector Protein 1) is a Protein Coding gene. Among its related pathways are Endocytosis and wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF). GO annotations related to this gene include protein homodimerization activity and growth factor activity. An important paralog of this gene is RABEP2.

UniProtKB/Swiss-Prot for RABEP1 Gene

  • Rab effector protein acting as linker between gamma-adaptin, RAB4A and RAB5A. Involved in endocytic membrane fusion and membrane trafficking of recycling endosomes. Involved in KCNH1 channels trafficking to and from the cell membrane (PubMed:22841712). Stimulates RABGEF1 mediated nucleotide exchange on RAB5A.

Gene Wiki entry for RABEP1 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RABEP1 Gene

Genomics for RABEP1 Gene

Regulatory Elements for RABEP1 Gene

Genomic Location for RABEP1 Gene

Chromosome:
17
Start:
5,282,263 bp from pter
End:
5,386,340 bp from pter
Size:
104,078 bases
Orientation:
Plus strand

Genomic View for RABEP1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RABEP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RABEP1 Gene

Proteins for RABEP1 Gene

  • Protein details for RABEP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15276-RABE1_HUMAN
    Recommended name:
    Rab GTPase-binding effector protein 1
    Protein Accession:
    Q15276
    Secondary Accessions:
    • B2RAG7
    • O95369
    • Q8IVX3

    Protein attributes for RABEP1 Gene

    Size:
    862 amino acids
    Molecular mass:
    99290 Da
    Quaternary structure:
    • Homodimer when bound to RAB5A. Heterodimer with RABGEF1. The heterodimer binds RAB4A and RAB5A that have been activated by GTP-binding. Binds TSC2, GGA1, GGA2, GGA3, AP1G1 and AP1G2. Interacts with ECM29. Interacts with KCNH1 (By similarity).

    Three dimensional structures from OCA and Proteopedia for RABEP1 Gene

    Alternative splice isoforms for RABEP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RABEP1 Gene

Proteomics data for RABEP1 Gene at MOPED

Post-translational modifications for RABEP1 Gene

  • Proteolytic cleavage by caspases in apoptotic cells causes loss of endosome fusion activity.
  • Ubiquitination at Lys 520
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for RABEP1 Gene

Domains & Families for RABEP1 Gene

Protein Domains for RABEP1 Gene

Suggested Antigen Peptide Sequences for RABEP1 Gene

Graphical View of Domain Structure for InterPro Entry

Q15276

UniProtKB/Swiss-Prot:

RABE1_HUMAN :
  • Belongs to the rabaptin family.
Family:
  • Belongs to the rabaptin family.
genes like me logo Genes that share domains with RABEP1: view

No data available for Gene Families for RABEP1 Gene

Function for RABEP1 Gene

Molecular function for RABEP1 Gene

UniProtKB/Swiss-Prot Function:
Rab effector protein acting as linker between gamma-adaptin, RAB4A and RAB5A. Involved in endocytic membrane fusion and membrane trafficking of recycling endosomes. Involved in KCNH1 channels trafficking to and from the cell membrane (PubMed:22841712). Stimulates RABGEF1 mediated nucleotide exchange on RAB5A.

Gene Ontology (GO) - Molecular Function for RABEP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IEA --
GO:0005515 protein binding IPI 12505986
GO:0008083 growth factor activity IEA --
GO:0042803 protein homodimerization activity IPI 15378032
genes like me logo Genes that share ontologies with RABEP1: view

Phenotypes for RABEP1 Gene

GenomeRNAi human phenotypes for RABEP1:
genes like me logo Genes that share phenotypes with RABEP1: view

Animal Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for RABEP1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for RABEP1 Gene

Localization for RABEP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RABEP1 Gene

Cytoplasm. Early endosome. Recycling endosome. Cytoplasmic vesicle.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RABEP1 Gene COMPARTMENTS Subcellular localization image for RABEP1 gene
Compartment Confidence
endosome 5
golgi apparatus 2
cytosol 1
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for RABEP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IDA 20682791
GO:0005769 early endosome IEA --
GO:0030139 endocytic vesicle IDA 20682791
GO:0043231 intracellular membrane-bounded organelle IDA --
GO:0055037 recycling endosome IEA --
genes like me logo Genes that share ontologies with RABEP1: view

Pathways & Interactions for RABEP1 Gene

genes like me logo Genes that share pathways with RABEP1: view

SIGNOR curated interactions for RABEP1 Gene

Activates:

Gene Ontology (GO) - Biological Process for RABEP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006897 endocytosis IEA --
GO:0006915 apoptotic process IEA --
GO:0015031 protein transport IEA --
GO:0016192 vesicle-mediated transport IMP 22841712
GO:0043547 positive regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with RABEP1: view

Drugs & Compounds for RABEP1 Gene

(1) Drugs for RABEP1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0

(1) Additional Compounds for RABEP1 Gene - From: NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
gtp
Partial agonist, Agonist
genes like me logo Genes that share compounds with RABEP1: view

Transcripts for RABEP1 Gene

Unigene Clusters for RABEP1 Gene

Rabaptin, RAB GTPase binding effector protein 1:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for RABEP1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for RABEP1 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b
SP1: - - -
SP2: - - - -
SP3:
SP4: - - -
SP5:
SP6:

Relevant External Links for RABEP1 Gene

GeneLoc Exon Structure for
RABEP1
ECgene alternative splicing isoforms for
RABEP1

Expression for RABEP1 Gene

mRNA expression in normal human tissues for RABEP1 Gene

Protein differential expression in normal tissues from HIPED for RABEP1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (18.9), Lymph node (9.1), and Uterus (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for RABEP1 Gene



SOURCE GeneReport for Unigene cluster for RABEP1 Gene Hs.592121

genes like me logo Genes that share expression patterns with RABEP1: view

Protein tissue co-expression partners for RABEP1 Gene

- Elite partner

Primer Products

In Situ Assay 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 RABEP1 Gene

Orthologs for RABEP1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for RABEP1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia RABEP1 35
  • 92.34 (n)
  • 97.22 (a)
RABEP1 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RABEP1 35
  • 86.37 (n)
  • 93.07 (a)
RABEP1 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rabep1 35
  • 90.49 (n)
  • 96.29 (a)
Rabep1 16
Rabep1 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RABEP1 35
  • 99.57 (n)
  • 99.65 (a)
RABEP1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rabep1 35
  • 90.18 (n)
  • 96.06 (a)
oppossum
(Monodelphis domestica)
Mammalia RABEP1 36
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 83 (a)
OneToMany
-- 36
  • 88 (a)
OneToMany
chicken
(Gallus gallus)
Aves RABEP1 35
  • 79.96 (n)
  • 88.02 (a)
RABEP1 36
  • 88 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RABEP1 36
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rabep1 35
  • 73.35 (n)
  • 78.55 (a)
Str.15861 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.32447 35
zebrafish
(Danio rerio)
Actinopterygii rabep1 35
  • 66.43 (n)
  • 72.53 (a)
rabep1 36
  • 70 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2327 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 34 (a)
OneToOne
Species with no ortholog for RABEP1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for RABEP1 Gene

ENSEMBL:
Gene Tree for RABEP1 (if available)
TreeFam:
Gene Tree for RABEP1 (if available)

Paralogs for RABEP1 Gene

Paralogs for RABEP1 Gene

genes like me logo Genes that share paralogs with RABEP1: view

Variants for RABEP1 Gene

Sequence variations from dbSNP and Humsavar for RABEP1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs2987 -- 5,340,533(-) ATACC(C/T)GAATA intron-variant
rs8703 -- 5,383,397(+) AACAG(C/T)GGGGT utr-variant-3-prime
rs10792 -- 5,384,859(+) TAATT(A/T)TAAAA utr-variant-3-prime
rs11558 -- 5,384,626(+) CTTCT(C/G)TCTTC utr-variant-3-prime
rs16419 -- 5,384,763(-) ATTAA(-/AATAA)TGTTT utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for RABEP1 Gene

Variant ID Type Subtype PubMed ID
esv2715567 CNV Deletion 23290073
nsv1955 CNV Loss 18451855
esv2715568 CNV Deletion 23290073
esv2670245 CNV Deletion 23128226
esv2715569 CNV Deletion 23290073
esv2664087 CNV Deletion 23128226
esv2656673 CNV Deletion 23128226
nsv819082 CNV Loss 19587683

Variation tolerance for RABEP1 Gene

Residual Variation Intolerance Score: 4.87% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.95; 49.32% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RABEP1 Gene

HapMap Linkage Disequilibrium report
RABEP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RABEP1 Gene

Disorders for RABEP1 Gene

Relevant External Links for RABEP1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RABEP1
genes like me logo Genes that share disorders with RABEP1: view

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RABEP1 Gene

Publications for RABEP1 Gene

  1. Rabaptin-5 is a direct effector of the small GTPase Rab5 in endocytic membrane fusion. (PMID: 8521472) Stenmark H. … Zerial M. (Cell 1995) 2 23 67
  2. NSF independent fusion of Salmonella-containing late phagosomes with early endosomes. (PMID: 20176016) Parashuraman S. … Mukhopadhyay A. (FEBS Lett. 2010) 23 67
  3. Delayed onset of positive feedback activation of Rab5 by Rabex-5 and Rabaptin-5 in endocytosis. (PMID: 20169068) Zhu H. … Li G. (PLoS ONE 2010) 23 67
  4. Regulation of endocytosis via the oxygen-sensing pathway. (PMID: 19252501) Wang Y. … Ohh M. (Nat. Med. 2009) 23 67
  5. Perturbation of vacuolar maturation promotes listeriolysin O-independent vacuolar escape during Listeria monocytogenes infection of human cells. (PMID: 19500109) Burrack L.S. … Higgins D.E. (Cell. Microbiol. 2009) 23 67

Products for RABEP1 Gene

Sources for RABEP1 Gene

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