Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Rab9 effector protein with kelch motifs

Gene

RABEPK

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

Functioni

Rab9 effector required for endosome to trans-Golgi network (TGN) transport.1 Publication

GO - Biological processi

  • receptor-mediated endocytosis Source: ProtInc
  • vesicle docking involved in exocytosis Source: ProtInc

Enzyme and pathway databases

ReactomeiR-HSA-6811440 Retrograde transport at the Trans-Golgi-Network
SIGNORiQ7Z6M1

Names & Taxonomyi

Protein namesi
Recommended name:
Rab9 effector protein with kelch motifs
Alternative name(s):
40 kDa Rab9 effector protein
p40
Gene namesi
Name:RABEPK
Synonyms:RAB9P40
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

EuPathDBiHostDB:ENSG00000136933.16
HGNCiHGNC:16896 RABEPK
MIMi605962 gene
neXtProtiNX_Q7Z6M1

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, Endosome, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi10244
OpenTargetsiENSG00000136933
PharmGKBiPA142671100

Polymorphism and mutation databases

BioMutaiRABEPK
DMDMi74750172

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002806161 – 372Rab9 effector protein with kelch motifsAdd BLAST372

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei133PhosphoserineCombined sources1

Post-translational modificationi

Phosphorylated on Ser residues most probably by PIP5K3.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ7Z6M1
MaxQBiQ7Z6M1
PaxDbiQ7Z6M1
PeptideAtlasiQ7Z6M1
PRIDEiQ7Z6M1
ProteomicsDBi69444
69445 [Q7Z6M1-2]

PTM databases

iPTMnetiQ7Z6M1
PhosphoSitePlusiQ7Z6M1

Expressioni

Gene expression databases

BgeeiENSG00000136933 Expressed in 224 organ(s), highest expression level in right lobe of liver
CleanExiHS_RABEPK
ExpressionAtlasiQ7Z6M1 baseline and differential
GenevisibleiQ7Z6M1 HS

Organism-specific databases

HPAiHPA023920
HPA067106

Interactioni

Subunit structurei

Interacts with PIP5K3. Interacts with RAB9 in its GTP-bound conformation.3 Publications

Protein-protein interaction databases

BioGridi115538, 17 interactors
IntActiQ7Z6M1, 7 interactors
MINTiQ7Z6M1
STRINGi9606.ENSP00000362639

Structurei

3D structure databases

ProteinModelPortaliQ7Z6M1
SMRiQ7Z6M1
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati49 – 95Kelch 1Add BLAST47
Repeati100 – 146Kelch 2Add BLAST47
Repeati151 – 200Kelch 3Add BLAST50
Repeati204 – 250Kelch 4Add BLAST47
Repeati254 – 303Kelch 5Add BLAST50

Keywords - Domaini

Kelch repeat, Repeat

Phylogenomic databases

eggNOGiKOG0379 Eukaryota
ENOG410Y5WM LUCA
GeneTreeiENSGT00760000119086
HOVERGENiHBG080504
InParanoidiQ7Z6M1
KOiK20285
OMAiKHLYIFG
OrthoDBiEOG091G0IS4
PhylomeDBiQ7Z6M1
TreeFamiTF329153

Family and domain databases

Gene3Di2.120.10.80, 2 hits
InterProiView protein in InterPro
IPR015915 Kelch-typ_b-propeller
IPR006652 Kelch_1
IPR011498 Kelch_2
PfamiView protein in Pfam
PF01344 Kelch_1, 1 hit
PF07646 Kelch_2, 1 hit
SUPFAMiSSF117281 SSF117281, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

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

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q7Z6M1-1) [UniParc]FASTAAdd to basket

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
MKQLPVLEPG DKPRKATWYT LTVPGDSPCA RVGHSCSYLP PVGNAKRGKV
60 70 80 90 100
FIVGGANPNR SFSDVHTMDL GKHQWDLDTC KGLLPRYEHA SFIPSCTPDR
110 120 130 140 150
IWVFGGANQS GNRNCLQVLN PETRTWTTPE VTSPPPSPRT FHTSSAAIGN
160 170 180 190 200
QLYVFGGGER GAQPVQDTKL HVFDANTLTW SQPETLGNPP SPRHGHVMVA
210 220 230 240 250
AGTKLFIHGG LAGDRFYDDL HCIDISDMKW QKLNPTGAAP AGCAAHSAVA
260 270 280 290 300
MGKHVYIFGG MTPAGALDTM YQYHTEEQHW TLLKFDTLLP PGRLDHSMCI
310 320 330 340 350
IPWPVTCASE KEDSNSLTLN HEAEKEDSAD KVMSHSGDSH EESQTATLLC
360 370
LVFGGMNTEG EIYDDCIVTV VD
Length:372
Mass (Da):40,565
Last modified:October 1, 2003 - v1
Checksum:iFBB17B9C6260C62E
GO
Isoform 2 (identifier: Q7Z6M1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     71-121: Missing.

Show »
Length:321
Mass (Da):34,841
Checksum:i92ACDAAD554F818F
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5T1S5Q5T1S5_HUMAN
Rab9 effector protein with kelch mo...
RABEPK
244Annotation score:
Q5T1S4Q5T1S4_HUMAN
Rab9 effector protein with kelch mo...
RABEPK
154Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti8E → K in CAG46649 (Ref. 3) Curated1
Sequence conflicti329A → V in CAB09808 (PubMed:9230071).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05005858P → A. Corresponds to variant dbSNP:rs13302059Ensembl.1
Natural variantiVAR_03117560R → G1 PublicationCorresponds to variant dbSNP:rs17855990Ensembl.1
Natural variantiVAR_03117667T → P. Corresponds to variant dbSNP:rs13302050Ensembl.1
Natural variantiVAR_03117773H → Y2 PublicationsCorresponds to variant dbSNP:rs1128362Ensembl.1
Natural variantiVAR_05005995S → C. Corresponds to variant dbSNP:rs34991596Ensembl.1
Natural variantiVAR_031178313D → G1 PublicationCorresponds to variant dbSNP:rs17849326Ensembl.1
Natural variantiVAR_031179333M → I. Corresponds to variant dbSNP:rs15233Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_02382871 – 121Missing in isoform 2. 1 PublicationAdd BLAST51

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Z97074 mRNA Translation: CAB09808.1
AK290768 mRNA Translation: BAF83457.1
CR456837 mRNA Translation: CAG33118.1
CR541851 mRNA Translation: CAG46649.1
AL354710 Genomic DNA No translation available.
AL445930 Genomic DNA No translation available.
CH471090 Genomic DNA Translation: EAW87616.1
BC000503 mRNA Translation: AAH00503.1
BC047023 mRNA Translation: AAH47023.1
BC053541 mRNA Translation: AAH53541.1
BC065725 mRNA Translation: AAH65725.1
AL832249 mRNA Translation: CAH10393.1
CCDSiCCDS55341.1 [Q7Z6M1-2]
CCDS6862.1 [Q7Z6M1-1]
RefSeqiNP_001167623.1, NM_001174152.1 [Q7Z6M1-1]
NP_001167624.1, NM_001174153.1 [Q7Z6M1-2]
NP_005824.2, NM_005833.3 [Q7Z6M1-1]
XP_016869666.1, XM_017014177.1 [Q7Z6M1-1]
UniGeneiHs.19012

Genome annotation databases

EnsembliENST00000259460; ENSP00000259460; ENSG00000136933 [Q7Z6M1-2]
ENST00000373538; ENSP00000362639; ENSG00000136933 [Q7Z6M1-1]
ENST00000394125; ENSP00000377683; ENSG00000136933 [Q7Z6M1-1]
GeneIDi10244
KEGGihsa:10244
UCSCiuc004bpi.4 human [Q7Z6M1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Z97074 mRNA Translation: CAB09808.1
AK290768 mRNA Translation: BAF83457.1
CR456837 mRNA Translation: CAG33118.1
CR541851 mRNA Translation: CAG46649.1
AL354710 Genomic DNA No translation available.
AL445930 Genomic DNA No translation available.
CH471090 Genomic DNA Translation: EAW87616.1
BC000503 mRNA Translation: AAH00503.1
BC047023 mRNA Translation: AAH47023.1
BC053541 mRNA Translation: AAH53541.1
BC065725 mRNA Translation: AAH65725.1
AL832249 mRNA Translation: CAH10393.1
CCDSiCCDS55341.1 [Q7Z6M1-2]
CCDS6862.1 [Q7Z6M1-1]
RefSeqiNP_001167623.1, NM_001174152.1 [Q7Z6M1-1]
NP_001167624.1, NM_001174153.1 [Q7Z6M1-2]
NP_005824.2, NM_005833.3 [Q7Z6M1-1]
XP_016869666.1, XM_017014177.1 [Q7Z6M1-1]
UniGeneiHs.19012

3D structure databases

ProteinModelPortaliQ7Z6M1
SMRiQ7Z6M1
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115538, 17 interactors
IntActiQ7Z6M1, 7 interactors
MINTiQ7Z6M1
STRINGi9606.ENSP00000362639

PTM databases

iPTMnetiQ7Z6M1
PhosphoSitePlusiQ7Z6M1

Polymorphism and mutation databases

BioMutaiRABEPK
DMDMi74750172

Proteomic databases

EPDiQ7Z6M1
MaxQBiQ7Z6M1
PaxDbiQ7Z6M1
PeptideAtlasiQ7Z6M1
PRIDEiQ7Z6M1
ProteomicsDBi69444
69445 [Q7Z6M1-2]

Protocols and materials databases

DNASUi10244
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000259460; ENSP00000259460; ENSG00000136933 [Q7Z6M1-2]
ENST00000373538; ENSP00000362639; ENSG00000136933 [Q7Z6M1-1]
ENST00000394125; ENSP00000377683; ENSG00000136933 [Q7Z6M1-1]
GeneIDi10244
KEGGihsa:10244
UCSCiuc004bpi.4 human [Q7Z6M1-1]

Organism-specific databases

CTDi10244
DisGeNETi10244
EuPathDBiHostDB:ENSG00000136933.16
GeneCardsiRABEPK
HGNCiHGNC:16896 RABEPK
HPAiHPA023920
HPA067106
MIMi605962 gene
neXtProtiNX_Q7Z6M1
OpenTargetsiENSG00000136933
PharmGKBiPA142671100
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0379 Eukaryota
ENOG410Y5WM LUCA
GeneTreeiENSGT00760000119086
HOVERGENiHBG080504
InParanoidiQ7Z6M1
KOiK20285
OMAiKHLYIFG
OrthoDBiEOG091G0IS4
PhylomeDBiQ7Z6M1
TreeFamiTF329153

Enzyme and pathway databases

ReactomeiR-HSA-6811440 Retrograde transport at the Trans-Golgi-Network
SIGNORiQ7Z6M1

Miscellaneous databases

ChiTaRSiRABEPK human
GeneWikiiRABEPK
GenomeRNAii10244
PROiPR:Q7Z6M1
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000136933 Expressed in 224 organ(s), highest expression level in right lobe of liver
CleanExiHS_RABEPK
ExpressionAtlasiQ7Z6M1 baseline and differential
GenevisibleiQ7Z6M1 HS

Family and domain databases

Gene3Di2.120.10.80, 2 hits
InterProiView protein in InterPro
IPR015915 Kelch-typ_b-propeller
IPR006652 Kelch_1
IPR011498 Kelch_2
PfamiView protein in Pfam
PF01344 Kelch_1, 1 hit
PF07646 Kelch_2, 1 hit
SUPFAMiSSF117281 SSF117281, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiRABEK_HUMAN
AccessioniPrimary (citable) accession number: Q7Z6M1
Secondary accession number(s): A8K403
, O00568, Q69YR2, Q6FHA4, Q6IBG7, Q6P092, Q86Y76, Q9BWB1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 20, 2007
Last sequence update: October 1, 2003
Last modified: November 7, 2018
This is version 130 of the entry and version 1 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

Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again