Human Gene RABEP1 (uc002gbm.4) Description and Page Index
  Description: Homo sapiens rabaptin, RAB GTPase binding effector protein 1 (RABEP1), transcript variant 1, mRNA.
Transcript (Including UTRs)
   Position: hg19 chr17:5,185,558-5,289,132 Size: 103,575 Total Exon Count: 19 Strand: +
Coding Region
   Position: hg19 chr17:5,185,782-5,286,518 Size: 100,737 Coding Exon Count: 18 

Page IndexSequence and LinksUniProtKB CommentsCTDGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr17:5,185,558-5,289,132)mRNA (may differ from genome)Protein (862 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
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OMIMPubMedReactomeStanford SOURCETreefamUniProtKB

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Rab GTPase-binding effector protein 1; AltName: Full=Rabaptin-4; AltName: Full=Rabaptin-5; AltName: Full=Rabaptin-5alpha; AltName: Full=Renal carcinoma antigen NY-REN-17;
FUNCTION: Rab effector protein acting as linker between gamma- adaptin, RAB4A and RAB5A. Involved in endocytic membrane fusion and membrane trafficking of recycling endosomes. Stimulates RABGEF1 mediated nucleotide exchange on RAB5A.
SUBUNIT: 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.
INTERACTION: O43747:AP1G1; NbExp=2; IntAct=EBI-447043, EBI-447609; O75843:AP1G2; NbExp=2; IntAct=EBI-447043, EBI-373637; Q9UJY5:GGA1; NbExp=8; IntAct=EBI-447043, EBI-447141; Q9UJY4:GGA2; NbExp=6; IntAct=EBI-447043, EBI-447646; Q9NZ52:GGA3; NbExp=4; IntAct=EBI-447043, EBI-447404;
SUBCELLULAR LOCATION: Cytoplasm. Early endosome. Recycling endosome. Cytoplasmic vesicle.
PTM: Proteolytic cleavage by caspases in apoptotic cells causes loss of endosome fusion activity.
SIMILARITY: Belongs to the rabaptin family.

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 25.60 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 707.13 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -112.90224-0.504 Picture PostScript Text
3' UTR -723.662588-0.280 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003914 - Rabaptin
IPR018514 - Rabaptin_coiled-coil
IPR015390 - Rabaptin_Rab5-bd_dom

Pfam Domains:
PF03528 - Rabaptin
PF09311 - Rabaptin-like protein

Protein Data Bank (PDB) 3-D Structure
MuPIT help

- X-ray MuPIT

- X-ray MuPIT

ModBase Predicted Comparative 3D Structure on Q15276
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserGenome BrowserGenome BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 Protein SequenceProtein SequenceProtein SequenceProtein Sequence 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005096 GTPase activator activity
GO:0005515 protein binding
GO:0008083 growth factor activity
GO:0019904 protein domain specific binding
GO:0042803 protein homodimerization activity

Biological Process:
GO:0006897 endocytosis
GO:0006915 apoptotic process
GO:0010469 regulation of receptor activity
GO:0015031 protein transport
GO:0016192 vesicle-mediated transport
GO:0043547 positive regulation of GTPase activity
GO:0061025 membrane fusion

Cellular Component:
GO:0005737 cytoplasm
GO:0005768 endosome
GO:0005769 early endosome
GO:0030139 endocytic vesicle
GO:0031410 cytoplasmic vesicle
GO:0031901 early endosome membrane
GO:0032991 macromolecular complex
GO:0043231 intracellular membrane-bounded organelle
GO:0055037 recycling endosome

-  Descriptions from all associated GenBank mRNAs
  AK314183 - Homo sapiens cDNA, FLJ94906, highly similar to Homo sapiens rabaptin-5 (RAB5EP), mRNA.
AK297535 - Homo sapiens cDNA FLJ60304 complete cds, highly similar to Rab GTPase-binding effector protein 1.
BC041700 - Homo sapiens rabaptin, RAB GTPase binding effector protein 1, mRNA (cDNA clone MGC:48839 IMAGE:6046320), complete cds.
BC032435 - Homo sapiens rabaptin, RAB GTPase binding effector protein 1, mRNA (cDNA clone IMAGE:4470315), partial cds.
X91141 - H.sapiens mRNA for RABAPTIN-5 protein.
BC065242 - Homo sapiens cDNA clone IMAGE:6067386, containing frame-shift errors.
AK310932 - Homo sapiens cDNA, FLJ17974.
X77723 - H.sapiens mRNA for unknown protein of uterine endometrium.
KJ897970 - Synthetic construct Homo sapiens clone ccsbBroadEn_07364 RABEP1 gene, encodes complete protein.
AF098638 - Homo sapiens rabaptin-4 mRNA, complete cds.
BC018742 - Homo sapiens rabaptin, RAB GTPase binding effector protein 1, mRNA (cDNA clone IMAGE:5016176), with apparent retained intron.
JD407093 - Sequence 388117 from Patent EP1572962.
JD199316 - Sequence 180340 from Patent EP1572962.
MP015054 - Sequence 257 from Patent WO2019016252.
JD053066 - Sequence 34090 from Patent EP1572962.
JD284396 - Sequence 265420 from Patent EP1572962.
JD346178 - Sequence 327202 from Patent EP1572962.
JD196539 - Sequence 177563 from Patent EP1572962.
AL157499 - Homo sapiens mRNA; cDNA DKFZp434N2412 (from clone DKFZp434N2412).
JD296400 - Sequence 277424 from Patent EP1572962.
JD114536 - Sequence 95560 from Patent EP1572962.
JD363567 - Sequence 344591 from Patent EP1572962.
JD559882 - Sequence 540906 from Patent EP1572962.
JD506465 - Sequence 487489 from Patent EP1572962.
JD090627 - Sequence 71651 from Patent EP1572962.
JD024746 - Sequence 5770 from Patent EP1572962.
JD032745 - Sequence 13769 from Patent EP1572962.
JD188210 - Sequence 169234 from Patent EP1572962.
JD170982 - Sequence 152006 from Patent EP1572962.
JD268291 - Sequence 249315 from Patent EP1572962.
JD357765 - Sequence 338789 from Patent EP1572962.
JD090826 - Sequence 71850 from Patent EP1572962.
JD237488 - Sequence 218512 from Patent EP1572962.
JD435612 - Sequence 416636 from Patent EP1572962.
JD308528 - Sequence 289552 from Patent EP1572962.
JD420624 - Sequence 401648 from Patent EP1572962.
AL050211 - Homo sapiens mRNA; cDNA DKFZp586G1423 (from clone DKFZp586G1423).
JD147944 - Sequence 128968 from Patent EP1572962.
JD459440 - Sequence 440464 from Patent EP1572962.
JD240107 - Sequence 221131 from Patent EP1572962.
JD317594 - Sequence 298618 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04144 - Endocytosis

Reactome (by CSHL, EBI, and GO)

Protein Q15276 (Reactome details) participates in the following event(s):

R-HSA-8854222 TBC1D3 associates with RAB5
R-HSA-9007101 Rab regulation of trafficking
R-HSA-199991 Membrane Trafficking
R-HSA-5653656 Vesicle-mediated transport

-  Other Names for This Gene
  Alternate Gene Symbols: B2RAG7, NM_004703, NP_004694, O95369, Q15276, Q8IVX3, RAB5EP, RABE1_HUMAN, RABPT5, RABPT5A
UCSC ID: uc002gbm.4
RefSeq Accession: NM_004703
Protein: Q15276 (aka RABE1_HUMAN or RAP1_HUMAN)
CCDS: CCDS42243.1, CCDS45592.1

-  Gene Model Information
category: coding nonsense-mediated-decay: yes RNA accession: NM_004703.4
exon count: 19CDS single in 3' UTR: no RNA size: 5421
ORF size: 2589CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 4710.00frame shift in genome: no % Coverage: 99.63
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.