UniProtKB - Q7Z6M1 (RABEK_HUMAN)
Protein
Rab9 effector protein with kelch motifs
Gene
RABEPK
Organism
Homo sapiens (Human)
Status
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
PathwayCommonsi | Q7Z6M1 |
Reactomei | R-HSA-6811440, Retrograde transport at the Trans-Golgi-Network |
SIGNORi | Q7Z6M1 |
Names & Taxonomyi
Protein namesi | Recommended name: Rab9 effector protein with kelch motifsCuratedAlternative name(s): 40 kDa Rab9 effector protein p40 |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:16896, RABEPK |
MIMi | 605962, gene |
neXtProti | NX_Q7Z6M1 |
VEuPathDBi | HostDB:ENSG00000136933.16 |
Subcellular locationi
Endosome
- Endosome membrane 1 Publication
Other locations
Note: Interaction with PIKFYVE and subsequent phosphorylation recruits it to the endosomal membrane.1 Publication
Cytosol
- cytosol Source: Reactome
Endosome
- endosome Source: ProtInc
- endosome membrane Source: UniProtKB-SubCell
Golgi apparatus
- trans-Golgi network membrane Source: Reactome
Other locations
- transport vesicle Source: Reactome
Keywords - Cellular componenti
Cytoplasm, Endosome, MembranePathology & Biotechi
Organism-specific databases
DisGeNETi | 10244 |
OpenTargetsi | ENSG00000136933 |
PharmGKBi | PA142671100 |
Miscellaneous databases
Pharosi | Q7Z6M1, Tdark |
Genetic variation databases
BioMutai | RABEPK |
DMDMi | 74750172 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000280616 | 1 – 372 | Rab9 effector protein with kelch motifsAdd BLAST | 372 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 133 | PhosphoserineCombined sources | 1 |
Post-translational modificationi
Phosphorylated on Ser residues by PIKFYVE.1 Publication
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q7Z6M1 |
jPOSTi | Q7Z6M1 |
MassIVEi | Q7Z6M1 |
MaxQBi | Q7Z6M1 |
PaxDbi | Q7Z6M1 |
PeptideAtlasi | Q7Z6M1 |
PRIDEi | Q7Z6M1 |
ProteomicsDBi | 69444 [Q7Z6M1-1] 69445 [Q7Z6M1-2] |
PTM databases
iPTMneti | Q7Z6M1 |
PhosphoSitePlusi | Q7Z6M1 |
Expressioni
Gene expression databases
Bgeei | ENSG00000136933, Expressed in right lobe of liver and 236 other tissues |
ExpressionAtlasi | Q7Z6M1, baseline and differential |
Genevisiblei | Q7Z6M1, HS |
Organism-specific databases
HPAi | ENSG00000136933, Low tissue specificity |
Interactioni
Subunit structurei
Protein-protein interaction databases
BioGRIDi | 115538, 17 interactors |
IntActi | Q7Z6M1, 10 interactors |
MINTi | Q7Z6M1 |
STRINGi | 9606.ENSP00000362639 |
Miscellaneous databases
RNActi | Q7Z6M1, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 49 – 95 | Kelch 1Add BLAST | 47 | |
Repeati | 100 – 146 | Kelch 2Add BLAST | 47 | |
Repeati | 151 – 200 | Kelch 3Add BLAST | 50 | |
Repeati | 204 – 250 | Kelch 4Add BLAST | 47 | |
Repeati | 254 – 303 | Kelch 5Add BLAST | 50 |
Keywords - Domaini
Kelch repeat, RepeatPhylogenomic databases
eggNOGi | KOG0379, Eukaryota |
GeneTreei | ENSGT00940000158763 |
HOGENOMi | CLU_045313_0_0_1 |
InParanoidi | Q7Z6M1 |
OMAi | LGTHRWD |
OrthoDBi | 933937at2759 |
PhylomeDBi | Q7Z6M1 |
TreeFami | TF329153 |
Family and domain databases
Gene3Di | 2.120.10.80, 2 hits |
InterProi | View protein in InterPro IPR015915, Kelch-typ_b-propeller IPR006652, Kelch_1 IPR011498, Kelch_2 |
Pfami | View protein in Pfam PF01344, Kelch_1, 1 hit PF07646, Kelch_2, 1 hit |
SUPFAMi | SSF117281, SSF117281, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis 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 sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketQ5T1S5 | Q5T1S5_HUMAN | Rab9 effector protein with kelch mo... | RABEPK | 244 | Annotation score: | ||
Q5T1S4 | Q5T1S4_HUMAN | Rab9 effector protein with kelch mo... | RABEPK | 154 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 8 | E → K in CAG46649 (Ref. 3) Curated | 1 | |
Sequence conflicti | 329 | A → V in CAB09808 (PubMed:9230071).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_050058 | 58 | P → A. Corresponds to variant dbSNP:rs13302059Ensembl. | 1 | |
Natural variantiVAR_031175 | 60 | R → G1 PublicationCorresponds to variant dbSNP:rs17855990Ensembl. | 1 | |
Natural variantiVAR_031176 | 67 | T → P. Corresponds to variant dbSNP:rs13302050Ensembl. | 1 | |
Natural variantiVAR_031177 | 73 | H → Y2 PublicationsCorresponds to variant dbSNP:rs1128362Ensembl. | 1 | |
Natural variantiVAR_050059 | 95 | S → C. Corresponds to variant dbSNP:rs34991596Ensembl. | 1 | |
Natural variantiVAR_031178 | 313 | D → G1 PublicationCorresponds to variant dbSNP:rs17849326Ensembl. | 1 | |
Natural variantiVAR_031179 | 333 | M → I. Corresponds to variant dbSNP:rs15233Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_023828 | 71 – 121 | Missing in isoform 2. 1 PublicationAdd BLAST | 51 |
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 |
CCDSi | CCDS55341.1 [Q7Z6M1-2] CCDS6862.1 [Q7Z6M1-1] |
RefSeqi | NP_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] |
Genome annotation databases
Ensembli | ENST00000259460; ENSP00000259460; ENSG00000136933 [Q7Z6M1-2] ENST00000373538; ENSP00000362639; ENSG00000136933 [Q7Z6M1-1] ENST00000394125; ENSP00000377683; ENSG00000136933 [Q7Z6M1-1] |
GeneIDi | 10244 |
KEGGi | hsa:10244 |
UCSCi | uc004bpi.4, human [Q7Z6M1-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar 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 |
CCDSi | CCDS55341.1 [Q7Z6M1-2] CCDS6862.1 [Q7Z6M1-1] |
RefSeqi | NP_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] |
3D structure databases
SMRi | Q7Z6M1 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 115538, 17 interactors |
IntActi | Q7Z6M1, 10 interactors |
MINTi | Q7Z6M1 |
STRINGi | 9606.ENSP00000362639 |
PTM databases
iPTMneti | Q7Z6M1 |
PhosphoSitePlusi | Q7Z6M1 |
Genetic variation databases
BioMutai | RABEPK |
DMDMi | 74750172 |
Proteomic databases
EPDi | Q7Z6M1 |
jPOSTi | Q7Z6M1 |
MassIVEi | Q7Z6M1 |
MaxQBi | Q7Z6M1 |
PaxDbi | Q7Z6M1 |
PeptideAtlasi | Q7Z6M1 |
PRIDEi | Q7Z6M1 |
ProteomicsDBi | 69444 [Q7Z6M1-1] 69445 [Q7Z6M1-2] |
Protocols and materials databases
Antibodypediai | 16386, 212 antibodies |
DNASUi | 10244 |
Genome annotation databases
Ensembli | ENST00000259460; ENSP00000259460; ENSG00000136933 [Q7Z6M1-2] ENST00000373538; ENSP00000362639; ENSG00000136933 [Q7Z6M1-1] ENST00000394125; ENSP00000377683; ENSG00000136933 [Q7Z6M1-1] |
GeneIDi | 10244 |
KEGGi | hsa:10244 |
UCSCi | uc004bpi.4, human [Q7Z6M1-1] |
Organism-specific databases
CTDi | 10244 |
DisGeNETi | 10244 |
GeneCardsi | RABEPK |
HGNCi | HGNC:16896, RABEPK |
HPAi | ENSG00000136933, Low tissue specificity |
MIMi | 605962, gene |
neXtProti | NX_Q7Z6M1 |
OpenTargetsi | ENSG00000136933 |
PharmGKBi | PA142671100 |
VEuPathDBi | HostDB:ENSG00000136933.16 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0379, Eukaryota |
GeneTreei | ENSGT00940000158763 |
HOGENOMi | CLU_045313_0_0_1 |
InParanoidi | Q7Z6M1 |
OMAi | LGTHRWD |
OrthoDBi | 933937at2759 |
PhylomeDBi | Q7Z6M1 |
TreeFami | TF329153 |
Enzyme and pathway databases
PathwayCommonsi | Q7Z6M1 |
Reactomei | R-HSA-6811440, Retrograde transport at the Trans-Golgi-Network |
SIGNORi | Q7Z6M1 |
Miscellaneous databases
BioGRID-ORCSi | 10244, 2 hits in 874 CRISPR screens |
ChiTaRSi | RABEPK, human |
GeneWikii | RABEPK |
GenomeRNAii | 10244 |
Pharosi | Q7Z6M1, Tdark |
PROi | PR:Q7Z6M1 |
RNActi | Q7Z6M1, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000136933, Expressed in right lobe of liver and 236 other tissues |
ExpressionAtlasi | Q7Z6M1, baseline and differential |
Genevisiblei | Q7Z6M1, HS |
Family and domain databases
Gene3Di | 2.120.10.80, 2 hits |
InterProi | View protein in InterPro IPR015915, Kelch-typ_b-propeller IPR006652, Kelch_1 IPR011498, Kelch_2 |
Pfami | View protein in Pfam PF01344, Kelch_1, 1 hit PF07646, Kelch_2, 1 hit |
SUPFAMi | SSF117281, SSF117281, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | RABEK_HUMAN | |
Accessioni | Q7Z6M1Primary (citable) accession number: Q7Z6M1 Secondary accession number(s): A8K403 Q9BWB1 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | March 20, 2007 |
Last sequence update: | October 1, 2003 | |
Last modified: | February 10, 2021 | |
This is version 145 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 9
Human chromosome 9: entries, gene names and cross-references to MIM - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - Human entries with genetic variants
List of human entries with genetic variants