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Protein

Rab9 effector protein with kelch motifs

Gene

RABEPK

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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.

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.

PTM databases

iPTMnetiQ7Z6M1.
PhosphoSitePlusiQ7Z6M1.

Expressioni

Gene expression databases

BgeeiENSG00000136933.
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. 16 interactors.
IntActiQ7Z6M1. 7 interactors.
MINTiMINT-3034780.
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.
OMAiIIPWPVT.
OrthoDBiEOG091G0IS4.
PhylomeDBiQ7Z6M1.
TreeFamiTF329153.

Family and domain databases

Gene3Di2.120.10.80. 1 hit.
2.130.10.80. 1 hit.
InterProiView protein in InterPro
IPR015916. Gal_Oxidase_b-propeller.
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.

Sequences (2)i

Sequence statusi: Complete.

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

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

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:rs16927965Ensembl.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, AL445930 Genomic DNA. Translation: CAQ08743.1.
AL445930, AL354710 Genomic DNA. Translation: CAI13681.1.
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

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: September 27, 2017
This is version 122 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 chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot