Format

Send to:

Choose Destination

RABEP1 rabaptin, RAB GTPase binding effector protein 1 [ Homo sapiens (human) ]

Gene ID: 9135, updated on 8-Jan-2019

Summary

Official Symbol
RABEP1provided by HGNC
Official Full Name
rabaptin, RAB GTPase binding effector protein 1provided by HGNC
Primary source
HGNC:HGNC:17677
See related
Ensembl:ENSG00000029725 MIM:603616
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RAB5EP; RABPT5
Expression
Ubiquitous expression in brain (RPKM 23.0), prostate (RPKM 14.6) and 25 other tissues See more
Orthologs

Genomic context

See RABEP1 in Genome Data Viewer
Location:
17p13.2
Exon count:
20
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (5282263..5386340)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (5185558..5289132)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ubiquitin specific peptidase 6 Neighboring gene uncharacterized LOC100130950 Neighboring gene zinc finger protein 594 Neighboring gene SLP adaptor and CSK interacting membrane protein Neighboring gene uncharacterized LOC105371505 Neighboring gene nucleoporin 88 Neighboring gene RPA interacting protein Neighboring gene complement C1q binding protein Neighboring gene DEAH-box helicase 33

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Nef nef Genome-wide shRNA screening identifies RABEP1, which is required for HIV-1 Nef-induced downregulation of CD4 in HeLa CD4+ cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • Endocytosis, organism-specific biosystem (from KEGG)
    Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • Endocytosis, conserved biosystem (from KEGG)
    Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
  • TBC/RABGAPs, organism-specific biosystem (from REACTOME)
    TBC/RABGAPs, organism-specific biosystemRab GTPases are peripheral membrane proteins involved in membrane trafficking. Often through their indirect interactions with coat components, motors, tethering factors and SNAREs, the Rab GTPases se...
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity IEA
Inferred from Electronic Annotation
more info
 
growth factor activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein domain specific binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
Golgi to plasma membrane transport ISS
Inferred from Sequence or Structural Similarity
more info
 
apoptotic process IEA
Inferred from Electronic Annotation
more info
 
endocytosis IEA
Inferred from Electronic Annotation
more info
 
membrane fusion TAS
Traceable Author Statement
more info
PubMed 
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
protein localization to ciliary membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
protein transport IEA
Inferred from Electronic Annotation
more info
 
regulation of signaling receptor activity IEA
Inferred from Electronic Annotation
more info
 
vesicle-mediated transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
early endosome TAS
Traceable Author Statement
more info
PubMed 
early endosome membrane TAS
Traceable Author Statement
more info
 
endocytic vesicle IDA
Inferred from Direct Assay
more info
PubMed 
endosome IDA
Inferred from Direct Assay
more info
PubMed 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
protein-containing complex IMP
Inferred from Mutant Phenotype
more info
PubMed 
recycling endosome IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
rab GTPase-binding effector protein 1
Names
neurocrescin
rabaptin-4
rabaptin-5
rabaptin-5alpha
renal carcinoma antigen NY-REN-17

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001083585.2NP_001077054.1  rab GTPase-binding effector protein 1 isoform 2

    See identical proteins and their annotated locations for NP_001077054.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1.
    Source sequence(s)
    AF098638, AL157499, BC041700, BM678290, DB124187, DB169027, EB387308
    Consensus CDS
    CCDS42243.1
    UniProtKB/Swiss-Prot
    Q15276
    Related
    ENSP00000339569.6, ENST00000341923.10
    Conserved Domains (2) summary
    pfam03528
    Location:9495
    Rabaptin; Rabaptin
    pfam09311
    Location:533806
    Rab5-bind; Rabaptin-like protein
  2. NM_001291581.1NP_001278510.1  rab GTPase-binding effector protein 1 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1, resulting in an isoform (3) that is shorter than isoform 1.
    Source sequence(s)
    AF098638, AK297535, AK314183, AL157499, BC041700, BM678290, DB124187, DB169027, EB387308
    UniProtKB/Swiss-Prot
    Q15276
    UniProtKB/TrEMBL
    B4DMM4
    Conserved Domains (3) summary
    pfam03528
    Location:11452
    Rabaptin; Rabaptin
    pfam09311
    Location:490796
    Rab5-bind; Rabaptin-like protein
    cl23887
    Location:630775
    DUF4349; Domain of unknown function (DUF4349)
  3. NM_001291582.1NP_001278511.1  rab GTPase-binding effector protein 1 isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks several 3' exons but contains an alternate 3' terminal exon, and it thus differs in its 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (4) has a distinct C-terminus and is significantly shorter than isoform 1.
    Source sequence(s)
    BC018742, DB169027
    Conserved Domains (1) summary
    cl14813
    Location:26157
    GluZincin; Peptidase Gluzincin family (thermolysin-like proteinases, TLPs) includes peptidases M1, M2, M3, M4, M13, M32 and M36 (fungalysins)
  4. NM_004703.6NP_004694.2  rab GTPase-binding effector protein 1 isoform 1

    See identical proteins and their annotated locations for NP_004694.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AF098638, AK314183, AL157499, BC041700, BM678290, DB124187, DB169027, EB387308
    Consensus CDS
    CCDS45592.1
    UniProtKB/Swiss-Prot
    Q15276
    Related
    ENSP00000445408.2, ENST00000537505.5
    Conserved Domains (2) summary
    pfam03528
    Location:9495
    Rabaptin; Rabaptin
    pfam09311
    Location:533839
    Rab5-bind; Rabaptin-like protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    5282263..5386340
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011524060.2XP_011522362.1  rab GTPase-binding effector protein 1 isoform X1

    Conserved Domains (2) summary
    pfam03528
    Location:9517
    Rabaptin; Rabaptin
    pfam09311
    Location:555861
    Rab5-bind; Rabaptin-like protein
  2. XM_017025294.2XP_016880783.1  rab GTPase-binding effector protein 1 isoform X2

  3. XM_017025295.2XP_016880784.1  rab GTPase-binding effector protein 1 isoform X3

Support Center