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Aliases for RABEP1 Gene

Aliases for RABEP1 Gene

  • Rabaptin, RAB GTPase Binding Effector Protein 1 2 3
  • RABPT5 3 4 6
  • Renal Carcinoma Antigen NY-REN-17 3 4
  • Rabaptin-5alpha 3 4
  • Rabaptin-4 3 4
  • Rabaptin-5 3 4
  • RAB5EP 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. Among its related pathways are Endocytosis and Delta508-CFTR traffic / ER-to-Golgi in CF. GO annotations related to this gene include protein homodimerization activity and GTPase activator 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

Start:
5,282,263 bp from pter
End:
5,385,812 bp from pter
Size:
103,550 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 Lys520
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for RABEP1 Gene

Domains 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 :
  • Q15276
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

Animal Model Products

miRNA for RABEP1 Gene

miRTarBase miRNAs that target RABEP1

miRNA 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) , Phenotypes , Animal Models , Transcription Factor Targeting 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
nucleus 3
cytoskeleton 2
cytosol 2

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 for RABEP1 Gene

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

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

Compounds for RABEP1 Gene

(1) HMDB Compounds for RABEP1 Gene

Compound Synonyms Cas Number PubMed IDs
Guanosine triphosphate
  • 5'-GTP
86-01-1

(1) Novoseek inferred chemical compound relationships for RABEP1 Gene

Compound -log(P) Hits PubMed IDs
gtp 45.4 4
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:

miRNA Products

Inhibitory RNA Products

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

Primer Products

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues 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 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 expressions with RABEP1: view

Expression partners for RABEP1 Gene

In Situ Assay Products

No data available for 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

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

(2) Novoseek inferred disease relationships for RABEP1 Gene

Disease -log(P) Hits PubMed IDs
alzheimers disease 7.01 1
tumors 0 1
genes like me logo Genes that share disorders with RABEP1: view

No data available for MalaCards , OMIM , UniProtKB/Swiss-Prot , University of Copenhagen DISEASES , Genatlas and External Links 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 23
  2. Functional synergy between Rab5 effector Rabaptin-5 and exchange factor Rabex-5 when physically associated in a complex. (PMID: 11452015) Lippe R. … Zerial M. (Mol. Biol. Cell 2001) 3 4 23
  3. Divalent interaction of the GGAs with the Rabaptin-5-Rabex-5 complex. (PMID: 12505986) Mattera R. … Bonifacino J.S. (EMBO J. 2003) 3 4 23
  4. Identification of rabaptin-5, rabex-5, and GM130 as putative effectors of rab33b, a regulator of retrograde traffic between the Golgi apparatus and ER. (PMID: 11718716) Valsdottir R. … Nilsson T. (FEBS Lett. 2001) 3 23
  5. The trihelical bundle subdomain of the GGA proteins interacts with multiple partners through overlapping but distinct sites. (PMID: 15143060) Mattera R. … Bonifacino J.S. (J. Biol. Chem. 2004) 3 23

Products for RABEP1 Gene

Sources for RABEP1 Gene

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