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Rabep1 rabaptin, RAB GTPase binding effector protein 1 [ Mus musculus (house mouse) ]

Gene ID: 54189, updated on 9-May-2024

Summary

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Official Symbol
Rabep1provided by MGI
Official Full Name
rabaptin, RAB GTPase binding effector protein 1provided by MGI
Primary source
MGI:MGI:1860236
See related
Ensembl:ENSMUSG00000020817 AllianceGenome:MGI:1860236
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Rab5ep; rabaptin-5; rabaptin-5alpha
Summary
Predicted to enable protein domain specific binding activity and protein homodimerization activity. Involved in Golgi to plasma membrane transport and protein localization to ciliary membrane. Located in endosome. Is expressed in brain; embryo; head; lung; and thymus. Orthologous to human RABEP1 (rabaptin, RAB GTPase binding effector protein 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in adrenal adult (RPKM 21.5), CNS E18 (RPKM 11.5) and 26 other tissues See more
Orthologs
human all
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Genomic context

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See Rabep1 in Genome Data Viewer
Location:
11 B3- B4; 11 43.21 cM
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (70735553..70833931)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (70844724..70943105)

Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E7010 Neighboring gene zinc finger protein 3 Neighboring gene SLP adaptor and CSK interacting membrane protein Neighboring gene STARR-seq mESC enhancer starr_29878 Neighboring gene STARR-positive B cell enhancer ABC_E1833 Neighboring gene ribosomal protein L23A, pseudogene 2 Neighboring gene predicted gene 12322 Neighboring gene STARR-seq mESC enhancer starr_29882 Neighboring gene nucleoporin 88 Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:70783671-70783780 Neighboring gene RPA interacting protein Neighboring gene complement component 1, q subcomponent binding protein Neighboring gene DEAH-box helicase 33 Neighboring gene predicted gene, 22297

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Characterization of Rabaptin-5 γ isoform. Korobko EV, et al. Biochemistry (Mosc), 2014 Sep. PMID 25385014
  2. Rab5 is a novel regulator of mast cell secretory granules: impact on size, cargo, and exocytosis. Azouz NP, et al. J Immunol, 2014 May 1. PMID 24696234
  3. Rabaptin-5 regulates receptor expression and functional activation in mast cells. Rios EJ, et al. Blood, 2008 Nov 15. PMID 18698003, Free PMC Article
  4. Multiple Rabaptin-5-like transcripts. Korobko EV, et al. Gene, 2002 Jun 12. PMID 12119113
  5. Identification of a new alternative-splicing transcript of Rabaptin-5 interacting with protein kinase MAK-V. Korobko EV, et al. Dokl Biochem, 2000 Jan-Feb. PMID 11977240

See all (49) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The RabGEF ALS2 is a hypoxia inducible target associated with the acquisition of aggressive traits in tumor cells.
    Title: The RabGEF ALS2 is a hypoxia inducible target associated with the acquisition of aggressive traits in tumor cells.
  2. Restoring C9ORF72 levels or augmenting its function with constitutively active RAB5 or chemical modulators of RAB5 effectors rescued patient neuron survival and ameliorated neurodegenerative processes in both gain- and loss-of-function C9ORF72 mouse models
    Title: Haploinsufficiency leads to neurodegeneration in C9ORF72 ALS/FTD human induced motor neurons.
  3. novel protein complex composed of Rabep1, GGA1 and Arl3 is responsible for the sorting and targeting of the polycystin 1 andpolycystin 2 to the cilium.
    Title: Ciliary membrane proteins traffic through the Golgi via a Rabep1/GGA1/Arl3-dependent mechanism.
  4. The intracellular localization of Rabaptin-5gamma indicates that it is not involved in Rab5-driven events--rather, it functions in other membrane transport steps; role of alternative splicing in determination of functional activities of Rab effector molecules
    Title: Characterization of Rabaptin-5 γ isoform.
  5. our results assign Rab5 a key role in mediating mast cell secretory granule fusion during biogenesis
    Title: Rab5 is a novel regulator of mast cell secretory granules: impact on size, cargo, and exocytosis.
  6. Rabex-5 regulates neurite morphogenesis of hippocampal neurons by activating at least two downstream targets, Rab5, which is localized in both axons and dendrites, and Rab17, which is localized in dendrites alone
    Title: Rabex-5 protein regulates dendritic localization of small GTPase Rab17 and neurite morphogenesis in hippocampal neurons.
  7. The disruption of Rabaptin-5 Ser407 phosphorylation reduces persistent cell migration in 2D and alphavbeta3-dependent invasion.
    Title: PKD controls αvβ3 integrin recycling and tumor cell invasive migration through its substrate Rabaptin-5.
  8. Data reveal the affinity of Rabex-5/Rabaptin-5/Rab5-GTP interaction in the cell, which is quantitatively related to the Rabex-5 concentration for the onset of the indirect positive feedback pathway.
    Title: Delayed onset of positive feedback activation of Rab5 by Rabex-5 and Rabaptin-5 in endocytosis.
  9. Rabaptin-5 importantly contributes to mast cell IgE-dependent immunologic function by enhancing mast cell receptor surface stability.
    Title: Rabaptin-5 regulates receptor expression and functional activation in mast cells.
  10. Western blot analysis of the mouse brain showed reduced levels of calpastatin and rabaptin-5 and higher amount of neuronatin in PKU compared to the wild type.
    Title: Expression of calpastatin, minopontin, NIPSNAP1, rabaptin-5 and neuronatin in the phenylketonuria (PKU) mouse brain: possible role on cognitive defect seen in PKU.
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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (2) 
  • Gene trapped (1) 

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC150053, MGC150054

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables GTPase activator activity IEA
Inferred from Electronic Annotation
more info
  
enables growth factor activity IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein domain specific binding ISO
Inferred from Sequence Orthology
more info
  
enables protein homodimerization activity ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
involved_in Golgi to plasma membrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in Golgi to plasma membrane transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within apoptotic process IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within endocytosis IEA
Inferred from Electronic Annotation
more info
  
involved_in endocytosis IEA
Inferred from Electronic Annotation
more info
  
involved_in protein localization to ciliary membrane IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within protein transport IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of postsynaptic neurotransmitter receptor internalization IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of postsynaptic neurotransmitter receptor internalization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in vesicle-mediated transport ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
  
is_active_in endocytic vesicle IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endocytic vesicle ISO
Inferred from Sequence Orthology
more info
  
is_active_in endosome IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endosome ISO
Inferred from Sequence Orthology
more info
  
is_active_in glutamatergic synapse IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in glutamatergic synapse IMP
Inferred from Mutant Phenotype
more info
 PubMed 
located_in intracellular membrane-bounded organelle ISO
Inferred from Sequence Orthology
more info
  
is_active_in presynaptic cytosol ISO
Inferred from Sequence Orthology
more info
  
part_of protein-containing complex ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
rab GTPase-binding effector protein 1
Names
RAB5 effector protein
neurocrescin
rabaptin 5

NCBI Reference Sequences (RefSeq)

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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_001291141.1 → NP_001278070.1  rab GTPase-binding effector protein 1 isoform 2

    See identical proteins and their annotated locations for NP_001278070.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an exon in the 5' coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
    Source sequence(s)
    AK134587, BC060166, BC080274, BY133091
    Consensus CDS
    CCDS70232.1
    UniProtKB/Swiss-Prot
    O35551
    Related
    ENSMUSP00000137267.2, ENSMUST00000178245.2
    Conserved Domains (3) summary
    pfam03528
    Location:11 → 452
    Rabaptin; Rabaptin
    pfam09311
    Location:490 → 796
    Rab5-bind; Rabaptin-like protein
    pfam10267
    Location:605 → 741
    Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein

  2. NM_001291142.1 → NP_001278071.1  rab GTPase-binding effector protein 1 isoform 3

    See identical proteins and their annotated locations for NP_001278071.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an in-frame exon in the central coding region, compared to variant 1. The encoded isoform (3) is shorter, compared to isoform 1.
    Source sequence(s)
    AK134587, BC060166, BC080274, BY133091
    Consensus CDS
    CCDS78984.1
    UniProtKB/Swiss-Prot
    O35551
    Related
    ENSMUSP00000080102.7, ENSMUST00000081362.13
    Conserved Domains (4) summary
    pfam03528
    Location:9 → 455
    Rabaptin; Rabaptin
    pfam09311
    Location:493 → 799
    Rab5-bind; Rabaptin-like protein
    pfam10267
    Location:608 → 744
    Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein
    cl14813
    Location:26 → 157
    GluZincin; Peptidase Gluzincin family (thermolysin-like proteinases, TLPs) includes peptidases M1, M2, M3, M4, M13, M32 and M36 (fungalysins)

  3. NM_001291143.1 → NP_001278072.1  rab GTPase-binding effector protein 1 isoform 4

    See identical proteins and their annotated locations for NP_001278072.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in its 5' UTR and uses a downstream start codon, compared to variant 1. The encoded isoform (4) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AK134587, AL596136, BC060166, BC080274, BY133091
    Consensus CDS
    CCDS78985.1
    UniProtKB/TrEMBL
    J3QJV7
    Related
    ENSMUSP00000136069.2, ENSMUST00000177731.8
    Conserved Domains (3) summary
    pfam03528
    Location:1 → 411
    Rabaptin; Rabaptin
    pfam09311
    Location:449 → 755
    Rab5-bind; Rabaptin-like protein
    pfam10267
    Location:564 → 700
    Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein

  4. NM_019400.3 → NP_062273.2  rab GTPase-binding effector protein 1 isoform 1

    See identical proteins and their annotated locations for NP_062273.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AK134587, BC060166, BC080274, BY133091
    Consensus CDS
    CCDS24968.1
    UniProtKB/Swiss-Prot
    A1L322, O35551, Q5QNU3, Q99L08, Q9CRP3, Q9EQF9, Q9JI94
    Related
    ENSMUSP00000075619.7, ENSMUST00000076270.13
    Conserved Domains (4) summary
    pfam03528
    Location:9 → 495
    Rabaptin; Rabaptin
    pfam09311
    Location:533 → 839
    Rab5-bind; Rabaptin-like protein
    pfam10267
    Location:648 → 784
    Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein
    cl14813
    Location:26 → 157
    GluZincin; Peptidase Gluzincin family (thermolysin-like proteinases, TLPs) includes peptidases M1, M2, M3, M4, M13, M32 and M36 (fungalysins)

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000077.7 Reference GRCm39 C57BL/6J

    Range
    70735553..70833931
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006533750.5 → XP_006533813.1  rab GTPase-binding effector protein 1 isoform X1

    Related
    ENSMUSP00000098488.5, ENSMUST00000100928.11
    Conserved Domains (2) summary
    pfam03528
    Location:9 → 495
    Rabaptin
    pfam09311
    Location:518 → 804
    Rab5-bind; Rabaptin-like protein

  2. XM_036156854.1 → XP_036012747.1  rab GTPase-binding effector protein 1 isoform X2

    Conserved Domains (2) summary
    pfam03528
    Location:1 → 307
    Rabaptin
    pfam09311
    Location:345 → 651
    Rab5-bind; Rabaptin-like protein

RNA

  1. XR_004936993.1 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O35551.2 GenPept UniProtKB/Swiss-Prot:O35551

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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