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Aliases for RABEP1 Gene

Aliases for RABEP1 Gene

  • Rabaptin, RAB GTPase Binding Effector Protein 1 2 3 5
  • 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
  • Rab GTPase-Binding Effector Protein 1 3
  • 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. Diseases associated with RABEP1 include Tuberous Sclerosis 2. Among its related pathways are Delta508-CFTR traffic / Sorting endosome formation in CF and Vesicle-mediated transport. Gene Ontology (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

Additional gene information for RABEP1 Gene

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

Genomics for RABEP1 Gene

GeneHancer (GH) Regulatory Elements for RABEP1 Gene

Promoters and enhancers for RABEP1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17I005281 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 580.4 +0.7 712 2.8 PKNOX1 SMAD1 ARID4B SIN3A ZNF2 ZBTB7B POLR2B ZNF766 ZNF213 ZNF143 RABEP1 ENSG00000263272 LOC100130950 LOC101928000 NUP88 SPAG7 USP6 RPAIN GC17M005295
GH17I005416 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 46.3 +136.7 136688 4.7 HDGF PKNOX1 SMAD1 ARID4B SIN3A FEZF1 DMAP1 ZBTB7B IRF4 YY1 RPAIN NUP88 RABEP1 ZNF594 ENSG00000263272 ENSG00000263220 C1QBP DHX33 PELP1 LOC101927979
GH17I005412 Enhancer 1.1 ENCODE dbSUPER 44 +131.2 131219 2.6 INSM2 KLF17 BRCA1 RFX5 YY1 ZEB1 TCF12 ZNF366 FOS SMARCC1 GC17P005414 RABEP1 C1QBP DHX33 NUP88 PIR48672 GC17M005386
GH17I005220 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 23.5 -53.8 -53788 15.8 HDGF PKNOX1 FOXA2 SMAD1 MLX ARID4B YBX1 IRF4 ZNF207 ZNF143 SCIMP RABEP1 ENSG00000263164 LOC101928000 USP6 CAMTA2 NUP88 ENSG00000262165 ZFP3 NLRP1
GH17I005466 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 15.6 +186.0 185960 3 HDGF CLOCK MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 IRF4 DHX33 LOC105371506 RPAIN NUP88 DERL2 ZNF594 RABEP1 MIS12 LOC100130950 PELP1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RABEP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RABEP1 gene promoter:

Genomic Locations for RABEP1 Gene

Genomic Locations for RABEP1 Gene
104,078 bases
Plus strand

Genomic View for RABEP1 Gene

Genes around RABEP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RABEP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    Recommended name:
    Rab GTPase-binding effector protein 1
    Protein Accession:
    Secondary Accessions:
    • B2RAG7
    • O95369
    • Q8IVX3

    Protein attributes for RABEP1 Gene

    862 amino acids
    Molecular mass:
    99290 Da
    Quaternary structure:
    • Homodimer when bound to RAB5A (PubMed:15378032). Heterodimer with RABGEF1 (PubMed:11452015, PubMed:9323142). The heterodimer binds RAB4A and RAB5A that have been activated by GTP-binding (PubMed:10698684, PubMed:8521472, PubMed:20098723). Binds TSC2, GGA1, GGA2, GGA3, AP1G1 and AP1G2 (PubMed:12505986, PubMed:12773381, PubMed:9045618). Interacts with ECM29 (PubMed:20682791). Interacts with KCNH1 (By similarity).

    Three dimensional structures from OCA and Proteopedia for RABEP1 Gene

    Alternative splice isoforms for RABEP1 Gene


neXtProt entry for RABEP1 Gene

Post-translational modifications for RABEP1 Gene

  • Proteolytic cleavage by caspases in apoptotic cells causes loss of endosome fusion activity.
  • Ubiquitination at isoforms=2520
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for RABEP1 Gene

Domains & Families for RABEP1 Gene

Gene Families for RABEP1 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins

Protein Domains for RABEP1 Gene

Suggested Antigen Peptide Sequences for RABEP1 Gene

Graphical View of Domain Structure for InterPro Entry



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

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.

Phenotypes From GWAS Catalog for RABEP1 Gene

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:0019904 protein domain specific binding IPI 12767220
GO:0042803 protein homodimerization activity IPI 15378032
genes like me logo Genes that share ontologies with RABEP1: view
genes like me logo Genes that share phenotypes with RABEP1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for RABEP1

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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

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 RABEP1 gene
Compartment Confidence
endosome 5
nucleus 3
cytosol 3
golgi apparatus 2
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RABEP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005768 endosome IDA,IEA 20682791
GO:0005769 early endosome TAS 8521472
GO:0030139 endocytic vesicle IDA 20682791
GO:0031410 cytoplasmic vesicle 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


Gene Ontology (GO) - Biological Process for RABEP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006897 endocytosis IEA --
GO:0006915 apoptotic process IEA --
GO:0010469 regulation of receptor activity IEA --
GO:0015031 protein transport 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
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:

CRISPR Products

Inhibitory RNA 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: - - - -
SP4: - - -

Relevant External Links for RABEP1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for RABEP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for RABEP1 Gene

Protein tissue co-expression partners for RABEP1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RABEP1 Gene:


SOURCE GeneReport for Unigene cluster for RABEP1 Gene:


Evidence on tissue expression from TISSUES for RABEP1 Gene

  • Nervous system(4.9)
  • Liver(4.3)
  • Blood(4.2)
  • Heart(2)
  • Muscle(2)
  • Spleen(2)
genes like me logo Genes that share expression patterns with RABEP1: 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 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
(Pan troglodytes)
Mammalia RABEP1 33 34
  • 99.57 (n)
(Bos Taurus)
Mammalia RABEP1 33 34
  • 92.34 (n)
(Mus musculus)
Mammalia Rabep1 33 16 34
  • 90.49 (n)
(Rattus norvegicus)
Mammalia Rabep1 33
  • 90.18 (n)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 88 (a)
-- 34
  • 83 (a)
(Canis familiaris)
Mammalia RABEP1 33 34
  • 86.37 (n)
(Monodelphis domestica)
Mammalia RABEP1 34
  • 73 (a)
(Gallus gallus)
Aves RABEP1 33 34
  • 79.96 (n)
(Anolis carolinensis)
Reptilia RABEP1 34
  • 83 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia rabep1 33
  • 73.35 (n)
Str.15861 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.32447 33
(Danio rerio)
Actinopterygii rabep1 34 33
  • 66.43 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 34 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2327 33
Species where no ortholog for RABEP1 was found in the sources mined by GeneCards:
  • 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

Gene Tree for RABEP1 (if available)
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 Variation AA Info Type
rs1000030758 -- 5,311,737(+) A/G intron_variant
rs1000034689 -- 5,357,453(+) C/T genic_downstream_transcript_variant, intron_variant
rs1000097130 -- 5,362,847(+) G/A genic_downstream_transcript_variant, intron_variant
rs1000110843 -- 5,358,625(+) T/G genic_downstream_transcript_variant, intron_variant
rs1000131992 -- 5,319,058(+) G/A intron_variant

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

Variant ID Type Subtype PubMed ID
dgv3089n100 CNV gain 25217958
esv2656673 CNV deletion 23128226
esv2664087 CNV deletion 23128226
esv2670245 CNV deletion 23128226
esv2715567 CNV deletion 23290073
esv2715568 CNV deletion 23290073
esv2715569 CNV deletion 23290073
esv3554048 CNV deletion 23714750
esv3639813 CNV loss 21293372
nsv1123090 CNV deletion 24896259
nsv1131295 CNV deletion 24896259
nsv1955 CNV deletion 18451855
nsv574273 CNV gain 21841781
nsv819082 CNV loss 19587683
nsv819549 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)

Additional Variant Information for RABEP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for RABEP1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for RABEP1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
tuberous sclerosis 2
  • ts
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for RABEP1

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

No data available for 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 3 4 22 58
  2. Divalent interaction of the GGAs with the Rabaptin-5-Rabex-5 complex. (PMID: 12505986) Mattera R … Bonifacino JS (The EMBO journal 2003) 3 4 22 58
  3. Functional synergy between Rab5 effector Rabaptin-5 and exchange factor Rabex-5 when physically associated in a complex. (PMID: 11452015) Lippé R … Zerial M (Molecular biology of the cell 2001) 3 4 22 58
  4. Physical and functional interaction of KV10.1 with Rabaptin-5 impacts ion channel trafficking. (PMID: 22841712) Ninkovic M … Pardo LA (FEBS letters 2012) 3 4 58
  5. A protein interaction network for Ecm29 links the 26 S proteasome to molecular motors and endosomal components. (PMID: 20682791) Gorbea C … Rechsteiner M (The Journal of biological chemistry 2010) 3 4 58

Products for RABEP1 Gene

Sources for RABEP1 Gene

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