RABEPK (Rab9 effector protein with kelch motifs)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 10244
Gene name Rab9 effector protein with kelch motifs
Gene symbol RABEPK
Synonyms (NCBI Gene)
RAB9P40bA65N13.1p40
Chromosome 9
Chromosome location 9q33.3
miRNA miRNA information provided by mirtarbase database.
29
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (29)
miRTarBase ID miRNA Experiments Reference
MIRT023617 hsa-miR-1-3p Microarray 18668037
MIRT469666 hsa-miR-5586-3p PAR-CLIP 23592263
MIRT469665 hsa-miR-218-2-3p PAR-CLIP 23592263
MIRT469664 hsa-miR-759 PAR-CLIP 23592263
MIRT469663 hsa-miR-4778-3p PAR-CLIP 23592263
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (11)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 14530284
GO:0005737 Component Cytoplasm IEA
GO:0005768 Component Endosome IEA
GO:0005768 Component Endosome TAS 9230071
GO:0005829 Component Cytosol TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
605962 16896 ENSG00000136933
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q7Z6M1
Protein name Rab9 effector protein with kelch motifs (40 kDa Rab9 effector protein) (p40)
Protein function Rab9 effector required for endosome to trans-Golgi network (TGN) transport.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07646 Kelch_2 30 → 82 Kelch motif Repeat
PF13415 Kelch_3 99 → 147 Domain
PF13415 Kelch_3 149 → 201 Domain
PF01344 Kelch_1 242 → 284 Kelch motif Repeat
Sequence 
MKQLPVLEPGDKPRKATWYTLTVPGDSPCARVGHSCSYLPPVGNAKRGKVFIVGGANPNR
SFSDVHTMDLGKHQWDLDTCKGLLPRYEHASFIPSCTPDRIWVFGGANQSGNRNCLQVLN
PETRTWTTPEVTSPPPSPRTFHTSSAAIGNQLYVFGGGERGAQPVQDTKLHVFDANTLTW
SQPETLGNPPSPRHGHVMVAAGTKLFIHGGLAGDRFYDDLHCIDISDMKWQKLNPTGAAP
AGCAAHSAVAMGKHVYIFGGMTPAGALDTMYQYHTEEQHWTLLKFDTLLPPGRLDHSMCI
IPWPVTCASEKEDSNSLTLNHEAEKEDSADKVMSHSGDSHEESQTATLLCLVFGGMNTEG
EIYDDCIVTVVD
Sequence length 372
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Retrograde transport at the Trans-Golgi-Network
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (4)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANXIETY DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CANNABIS DEPENDENCE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
High myopia Uncertain significance ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SEVERE MYOPIA — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (65)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 22071786, 24194854, 25189640, 26317919, 28298147, 28394798, 28498881, 30718697, 31653135, 31786484
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 26469326
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoid Cystic Carcinoma Adenocarcinoma BEFREE 31653135
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 25015728
★★★★★
★☆☆☆☆
Found in Text Mining only
Ameloblastoma Ameloblastoma BEFREE 30285997
★★★★★
★☆☆☆☆
Found in Text Mining only
Ankylosing spondylitis Ankylosing Spondylitis BEFREE 29880011
★★★★★
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm, Abdominal Aortic Aneurysm BEFREE 31320700
★★★★★
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 15988104
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis BEFREE 16482511
★★★★★
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 15007350
★★★★★
★☆☆☆☆
Found in Text Mining only