Aliases for RABEP1 Gene

Aliases for RABEP1 Gene

  • Rabaptin, RAB GTPase Binding Effector Protein 1 2 3 5
  • Rab GTPase-Binding Effector Protein 1 3 4
  • 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. Diseases associated with RABEP1 include Phenylketonuria and Tuberous Sclerosis 2. Among its related pathways are Endocytosis and wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF). 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 Summary 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. Mediates the traffic of PKD1:PKD2 complex from the endoplasmic reticulum through the Golgi to the cilium (By similarity).

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 , Rfam classification and piRNA Summary for RABEP1 Gene

Genomics for RABEP1 Gene

GeneHancer (GH) Regulatory Elements for RABEP1 Gene

Promoters and enhancers for RABEP1 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 RABEP1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RABEP1

Top Transcription factor binding sites by QIAGEN in the RABEP1 gene promoter:
  • AP-1
  • c-Fos
  • c-Jun
  • Egr-1
  • Egr-2
  • GATA-1
  • GATA-2
  • HFH-1
  • MAZR
  • STAT3

Genomic Locations for RABEP1 Gene

Genomic Locations for RABEP1 Gene
chr17:5,282,263-5,386,340
(GRCh38/hg38)
Size:
104,078 bases
Orientation:
Plus strand
chr17:5,185,558-5,289,132
(GRCh37/hg19)
Size:
103,575 bases
Orientation:
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:
    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 (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 ECPAS (PubMed:20682791). Interacts with KCNH1 (By similarity). Interacts with PKD1 (via C-terminal domain) and GGA1; the interactions recruit PKD1:PKD2 complex to GGA1 and ARL3 at trans-Golgi network (By similarity). 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

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 & Families for RABEP1 Gene

Gene Families for RABEP1 Gene

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

Protein Domains for RABEP1 Gene

Blocks:
  • Rabaptin signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RABEP1 Gene

GenScript: Design optimal peptide antigens:
  • RABEP1 protein (Q05BX6_HUMAN)
  • Renal carcinoma antigen NY-REN-17 (RABE1_HUMAN)

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

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. Mediates the traffic of PKD1:PKD2 complex from the endoplasmic reticulum through the Golgi to the cilium (By similarity).

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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RABEP1

Clone 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

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 RABEP1 gene
Compartment Confidence
endosome 5
nucleus 3
cytosol 3
plasma membrane 2
cytoskeleton 2
lysosome 2
golgi apparatus 2
extracellular 1
mitochondrion 1
endoplasmic reticulum 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,IBA 20682791
GO:0031410 cytoplasmic vesicle IEA --
genes like me logo Genes that share ontologies with RABEP1: view

Pathways & Interactions for RABEP1 Gene

PathCards logo

SuperPathways for RABEP1 Gene

SuperPathway Contained pathways
1 Vesicle-mediated transport
2 Delta508-CFTR traffic / Sorting endosome formation in CF
.01
-
3 Endocytosis
4 TBC/RABGAPs
5 wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)
.32
genes like me logo Genes that share pathways with RABEP1: view

Pathways by source for RABEP1 Gene

3 Reactome pathways for RABEP1 Gene
1 KEGG pathway for RABEP1 Gene
4 GeneGo (Thomson Reuters) pathways for RABEP1 Gene
  • 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 RABEP1 Gene

Activates:

Gene Ontology (GO) - Biological Process for RABEP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006893 Golgi to plasma membrane transport ISS,IBA --
GO:0006897 endocytosis IEA --
GO:0006915 apoptotic process IEA --
GO:0007165 signal transduction IEA --
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with RABEP1: view

Drugs & Compounds for RABEP1 Gene

(11) Drugs for RABEP1 Gene - From: PharmGKB and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Amisulpride Approved, Investigational Pharma Antagonist Dopamine D2/D3 receptor antagonist 57
Aripiprazole Approved, Investigational Pharma Antagonist, Full agonist, Agonist Antipsychotic, High affinity D2 and 5-HT1A receptor partial agonist; also 5-HT2A antagonist 395
Clozapine Approved Pharma Antagonist, Positive, Allosteric regulator, Full agonist, Agonist, Inverse agonist Antipsychotic medication 134
Mirtazapine Approved Pharma 104
Olanzapine Approved, Investigational Pharma Antagonist, Full agonist, Agonist, Inverse agonist 437

(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

mRNA/cDNA for RABEP1 Gene

4 REFSEQ mRNAs :
20 NCBI additional mRNA sequence :
7 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 RABEP1

Clone 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

Expression for RABEP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RABEP1

SOURCE GeneReport for Unigene cluster for RABEP1 Gene:

Hs.592121

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
chimpanzee
(Pan troglodytes)
Mammalia RABEP1 31 30
  • 99.57 (n)
OneToOne
cow
(Bos Taurus)
Mammalia RABEP1 31 30
  • 92.34 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Rabep1 17 31 30
  • 90.49 (n)
rat
(Rattus norvegicus)
Mammalia Rabep1 30
  • 90.18 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 88 (a)
OneToMany
-- 31
  • 83 (a)
OneToMany
dog
(Canis familiaris)
Mammalia RABEP1 31 30
  • 86.37 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RABEP1 31
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves RABEP1 31 30
  • 79.96 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RABEP1 31
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rabep1 30
  • 73.35 (n)
Str.15861 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.32447 30
zebrafish
(Danio rerio)
Actinopterygii rabep1 31 30
  • 66.43 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 34 (a)
OneToOne
Cin.2327 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2327 30
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

ENSEMBL:
Gene Tree for RABEP1 (if available)
TreeFam:
Gene Tree for RABEP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RABEP1: view image

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RABEP1 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs3026099 - p.Glu640Gly

Additional dbSNP identifiers (rs#s) for RABEP1 Gene

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
RABEP1

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

Disorders for RABEP1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for RABEP1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
phenylketonuria
  • pku
tuberous sclerosis 2
  • ts
pontiac fever
- 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 23 54
  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 23 54
  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 23 54
  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 54
  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 54

Products for RABEP1 Gene

Sources for RABEP1 Gene