Gene Gene information from NCBI Gene database.
Entrez ID 9135
Gene name Rabaptin, RAB GTPase binding effector protein 1
Gene symbol RABEP1
Synonyms (NCBI Gene)
RAB5EPRABPT5
Chromosome 17
Chromosome location 17p13.2
miRNA miRNA information provided by mirtarbase database.
547
miRTarBase ID miRNA Experiments Reference
MIRT005562 hsa-miR-373-3p Luciferase reporter assayqRT-PCRWestern blot 21271679
MIRT051366 hsa-let-7f-5p CLASH 23622248
MIRT469672 hsa-miR-551b-5p PAR-CLIP 23592263
MIRT469671 hsa-miR-552-3p PAR-CLIP 23592263
MIRT469670 hsa-miR-6076 PAR-CLIP 23592263
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
32
GO ID Ontology Definition Evidence Reference
GO:0005096 Function GTPase activator activity IEA
GO:0005515 Function Protein binding IPI 12505986, 14637142, 15143060, 15378032, 15457209, 17450153, 21911467, 28514442, 32296183, 33961781, 35271311, 37100772
GO:0005737 Component Cytoplasm IEA
GO:0005768 Component Endosome IBA
GO:0005768 Component Endosome IDA 20682791
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603616 17677 ENSG00000029725
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q15276
Protein name Rab GTPase-binding effector protein 1 (Rabaptin-4) (Rabaptin-5) (Rabaptin-5alpha) (Renal carcinoma antigen NY-REN-17)
Protein function 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:228
PDB 1P4U , 1TU3 , 1X79 , 4N3Y , 4N3Z , 4Q9U
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03528 Rabaptin 9 495 Rabaptin Family
PF09311 Rab5-bind 533 839 Rabaptin-like protein Coiled-coil
Sequence
MAQPGPASQPDVSLQQRVAELEKINAEFLRAQQQLEQEFNQKRAKFKELYLAKEEDLKRQ
NAVLQAAQDDLGHLRTQLWEAQAEMENIKAIATVSENTKQEAIDEVKRQWREEVASLQAV
MKETVRDYEHQFHLRLEQERTQWAQYRESAEREIADLRRRLSEGQEEENLENEMKKAQED
AEKLRSVVMPMEKEIAALKDKLTEAEDKIKELEASKVKELNHYLEAEKSCRTDLEMYVAV
LNTQKSVLQEDAEKLRKELHEVCHLLEQERQQHNQLKHTWQKANDQFLESQRLLMRDMQR
MEIVLTSEQLRQVEELKKKDQEDDEQQRLNKRKDHKKADVEEEIKIPVVCALTQEESSAQ
LSNEEEHLDSTRGSVHSLDAGLLLPSGDPFSKSDNDMFKDGLRRAQSTDSLGTSGSLQSK
ALGYNYKAKSAGNLDESDFGPLVGADSVSENFDTASLGSLQMPSGFMLTKDQERAIKAMT
PEQEETASLLSSVTQ
GMESAYVSPSGYRLVSETEWNLLQKEVHNAGNKLGRRCDMCSNYE
KQLQGIQIQEAETRDQVKKLQLMLRQANDQLEKTMKDKQELEDFIKQSSEDSSHQISALV
LRAQASEILLEELQQGLSQAKRDVQEQMAVLMQSREQVSEELVRLQKDNDSLQGKHSLHV
SLQQAEDFILPDTTEALRELVLKYREDIINVRTAADHVEEKLKAEILFLKEQIQAEQCLK
ENLEETLQLEIENCKEEIASISSLKAELERIKVEKGQLESTLREKSQQLESLQEIKISLE
EQLKKETAAKATVEQLMFEEKNKAQRLQTELDVSEQVQRDFVKLSQTLQVQLERIRQAD
S
LERIRAILNDTKLTDINQLPET
Sequence length 862
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Endocytosis   TBC/RABGAPs
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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)
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Teratoma Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 10880397, 33712570, 36776048 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Anemia, Sickle Cell Anemia GWASCAT_DG 28552477
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 23819905 Inhibit
★☆☆☆☆
Found in Text Mining only
Cognitive Dysfunction Cognition disorder Pubtator 25756588 Stimulate
★☆☆☆☆
Found in Text Mining only
Common Variable Immunodeficiency Common variable immunodeficiency Pubtator 30723478 Associate
★☆☆☆☆
Found in Text Mining only
CREST Syndrome CREST Syndrome BEFREE 30980594
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Diabetes mellitus Pubtator 28694205 Associate
★☆☆☆☆
Found in Text Mining only
Dyslipidemias Dyslipidemias Pubtator 28694205 Associate
★☆☆☆☆
Found in Text Mining only
Juvenile Myelomonocytic Leukemia Myelomonocytic Leukemia BEFREE 11588050
★☆☆☆☆
Found in Text Mining only
Leukemia Myelomonocytic Chronic Myelomonocytic leukemia Pubtator 12130532 Associate
★☆☆☆☆
Found in Text Mining only