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Protein

Rab GTPase-binding effector protein 1

Gene

RABEP1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.5 Publications

GO - Molecular functioni

  • growth factor activity Source: InterPro
  • GTPase activator activity Source: InterPro
  • protein domain specific binding Source: CAFA
  • protein homodimerization activity Source: UniProtKB

GO - Biological processi

  • apoptotic process Source: UniProtKB-KW
  • endocytosis Source: ProtInc
  • membrane fusion Source: ProtInc
  • protein transport Source: UniProtKB-KW
  • vesicle-mediated transport Source: UniProtKB

Keywordsi

Biological processApoptosis, Endocytosis, Protein transport, Transport

Enzyme and pathway databases

ReactomeiR-HSA-8854214 TBC/RABGAPs
SIGNORiQ15276

Names & Taxonomyi

Protein namesi
Recommended name:
Rab GTPase-binding effector protein 1
Alternative name(s):
Rabaptin-4
Rabaptin-5
Rabaptin-5alpha
Renal carcinoma antigen NY-REN-17
Gene namesi
Name:RABEP1
Synonyms:RAB5EP, RABPT5, RABPT5A
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000029725.16
HGNCiHGNC:17677 RABEP1
MIMi603616 gene
neXtProtiNX_Q15276

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Cytoplasmic vesicle, Endosome

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi812D → K: No effect on RAB5A binding affinity. 1 Publication1
Mutagenesisi815E → K: No effect on RAB5A binding affinity. 1 Publication1
Mutagenesisi818Q → W: Strongly decreases RAB5A binding affinity. 1 Publication1
Mutagenesisi820D → K: Strongly decreases RAB5A binding affinity. 1 Publication1
Mutagenesisi821F → R: Strongly decreases RAB5A binding affinity. 1 Publication1
Mutagenesisi822V → D: Strongly decreases RAB5A binding affinity. 1 Publication1
Mutagenesisi826Q → A: Strongly decreases RAB5A binding affinity. 1 Publication1
Mutagenesisi829Q → A: Strongly decreases RAB5A binding affinity. 1 Publication1

Organism-specific databases

DisGeNETi9135
OpenTargetsiENSG00000029725
PharmGKBiPA134884097

Polymorphism and mutation databases

BioMutaiRABEP1
DMDMi116242743

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00001875562 – 862Rab GTPase-binding effector protein 1Add BLAST861

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1
Modified residuei282N6-acetyllysineCombined sources1
Modified residuei374PhosphoserineCombined sources1
Modified residuei377PhosphoserineCombined sources1
Modified residuei407PhosphoserineCombined sources1
Modified residuei408PhosphothreonineCombined sources1
Modified residuei410PhosphoserineCombined sources1

Post-translational modificationi

Proteolytic cleavage by caspases in apoptotic cells causes loss of endosome fusion activity.1 Publication

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ15276
MaxQBiQ15276
PaxDbiQ15276
PeptideAtlasiQ15276
PRIDEiQ15276

PTM databases

iPTMnetiQ15276
PhosphoSitePlusiQ15276

Miscellaneous databases

PMAP-CutDBQ15276

Expressioni

Gene expression databases

BgeeiENSG00000029725
CleanExiHS_RABEP1
ExpressionAtlasiQ15276 baseline and differential
GenevisibleiQ15276 HS

Organism-specific databases

HPAiCAB004549
HPA019669
HPA024235
HPA024691

Interactioni

Subunit structurei

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).By similarity10 Publications

Binary interactionsi

Show more details

GO - Molecular functioni

  • growth factor activity Source: InterPro
  • protein domain specific binding Source: CAFA
  • protein homodimerization activity Source: UniProtKB

Protein-protein interaction databases

BioGridi114583, 77 interactors
CORUMiQ15276
DIPiDIP-29350N
IntActiQ15276, 64 interactors
MINTiQ15276
STRINGi9606.ENSP00000262477

Structurei

Secondary structure

1862
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi553 – 633Combined sources81
Helixi805 – 836Combined sources32
Helixi841 – 847Combined sources7

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1P4UX-ray2.20B435-447[»]
1TU3X-ray2.31F/G/H/I/J789-862[»]
1X79X-ray2.41B/C551-661[»]
4N3YX-ray2.20B/C552-642[»]
4N3ZX-ray3.10B/C552-642[»]
4Q9UX-ray4.62C/D/G/H552-642[»]
ProteinModelPortaliQ15276
SMRiQ15276
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ15276

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili11 – 345Sequence analysisAdd BLAST335
Coiled coili534 – 816Sequence analysisAdd BLAST283

Sequence similaritiesi

Belongs to the rabaptin family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG0993 Eukaryota
ENOG410XSZ1 LUCA
GeneTreeiENSGT00530000063743
HOGENOMiHOG000234329
HOVERGENiHBG055335
InParanoidiQ15276
KOiK12480
OMAiQKEVHNA
OrthoDBiEOG091G0H2C
PhylomeDBiQ15276
TreeFamiTF329365

Family and domain databases

InterProiView protein in InterPro
IPR003914 Rabaptin
IPR029880 Rabaptin-5
IPR018514 Rabaptin_coiled-coil
IPR015390 Rabaptin_Rab5-bd_dom
PANTHERiPTHR31179:SF5 PTHR31179:SF5, 1 hit
PfamiView protein in Pfam
PF09311 Rab5-bind, 1 hit
PF03528 Rabaptin, 1 hit
PRINTSiPR01432 RABAPTIN

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q15276-1) [UniParc]FASTAAdd to basket
Also known as: Rabaptin-5

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAQPGPASQP DVSLQQRVAE LEKINAEFLR AQQQLEQEFN QKRAKFKELY
60 70 80 90 100
LAKEEDLKRQ NAVLQAAQDD LGHLRTQLWE AQAEMENIKA IATVSENTKQ
110 120 130 140 150
EAIDEVKRQW REEVASLQAV MKETVRDYEH QFHLRLEQER TQWAQYRESA
160 170 180 190 200
EREIADLRRR LSEGQEEENL ENEMKKAQED AEKLRSVVMP MEKEIAALKD
210 220 230 240 250
KLTEAEDKIK ELEASKVKEL NHYLEAEKSC RTDLEMYVAV LNTQKSVLQE
260 270 280 290 300
DAEKLRKELH EVCHLLEQER QQHNQLKHTW QKANDQFLES QRLLMRDMQR
310 320 330 340 350
MEIVLTSEQL RQVEELKKKD QEDDEQQRLN KRKDHKKADV EEEIKIPVVC
360 370 380 390 400
ALTQEESSAQ LSNEEEHLDS TRGSVHSLDA GLLLPSGDPF SKSDNDMFKD
410 420 430 440 450
GLRRAQSTDS LGTSGSLQSK ALGYNYKAKS AGNLDESDFG PLVGADSVSE
460 470 480 490 500
NFDTASLGSL QMPSGFMLTK DQERAIKAMT PEQEETASLL SSVTQGMESA
510 520 530 540 550
YVSPSGYRLV SETEWNLLQK EVHNAGNKLG RRCDMCSNYE KQLQGIQIQE
560 570 580 590 600
AETRDQVKKL QLMLRQANDQ LEKTMKDKQE LEDFIKQSSE DSSHQISALV
610 620 630 640 650
LRAQASEILL EELQQGLSQA KRDVQEQMAV LMQSREQVSE ELVRLQKDND
660 670 680 690 700
SLQGKHSLHV SLQQAEDFIL PDTTEALREL VLKYREDIIN VRTAADHVEE
710 720 730 740 750
KLKAEILFLK EQIQAEQCLK ENLEETLQLE IENCKEEIAS ISSLKAELER
760 770 780 790 800
IKVEKGQLES TLREKSQQLE SLQEIKISLE EQLKKETAAK ATVEQLMFEE
810 820 830 840 850
KNKAQRLQTE LDVSEQVQRD FVKLSQTLQV QLERIRQADS LERIRAILND
860
TKLTDINQLP ET
Length:862
Mass (Da):99,290
Last modified:October 17, 2006 - v2
Checksum:iCAAF91638B8ED516
GO
Isoform 2 (identifier: Q15276-2) [UniParc]FASTAAdd to basket
Also known as: Rabaptin-4

The sequence of this isoform differs from the canonical sequence as follows:
     758-790: Missing.

Show »
Length:829
Mass (Da):95,479
Checksum:i5B9D6E6BDF9627CD
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti149S → Y in CAA62580 (PubMed:8521472).Curated1
Sequence conflicti149S → Y in AAC70781 (PubMed:10698684).Curated1
Sequence conflicti628M → I in BAG36864 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_028106640E → G. Corresponds to variant dbSNP:rs3026099Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_010451758 – 790Missing in isoform 2. 1 PublicationAdd BLAST33

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X91141 mRNA Translation: CAA62580.1
AF098638 mRNA Translation: AAC70781.1
AK314183 mRNA Translation: BAG36864.1
BC041700 mRNA Translation: AAH41700.1
CCDSiCCDS42243.1 [Q15276-2]
CCDS45592.1 [Q15276-1]
RefSeqiNP_001077054.1, NM_001083585.2 [Q15276-2]
NP_001278510.1, NM_001291581.1
NP_004694.2, NM_004703.5 [Q15276-1]
UniGeneiHs.584784
Hs.592121
Hs.732542

Genome annotation databases

EnsembliENST00000341923; ENSP00000339569; ENSG00000029725 [Q15276-2]
ENST00000537505; ENSP00000445408; ENSG00000029725 [Q15276-1]
GeneIDi9135
KEGGihsa:9135
UCSCiuc032ery.2 human [Q15276-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiRABE1_HUMAN
AccessioniPrimary (citable) accession number: Q15276
Secondary accession number(s): B2RAG7, O95369, Q8IVX3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 24, 2004
Last sequence update: October 17, 2006
Last modified: May 23, 2018
This is version 172 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

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