Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9135
Gene name Gene Name - the full gene name approved by the HGNC.
Rabaptin, RAB GTPase binding effector protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RABEP1
Synonyms (NCBI Gene) Gene synonyms aliases
RAB5EP, RABPT5
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17p13.2
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT005562 hsa-miR-373-3p Luciferase reporter assay, qRT-PCR, Western 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 information of associated ontologies with gene provided by GO database.
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
GO:0005768 Component Endosome IBA 21873635
GO:0005768 Component Endosome IDA 20682791
GO:0005769 Component Early endosome TAS 8521472
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603616 17677 ENSG00000029725
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Anemia Anemia, Sickle Cell rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966
View all (89 more)
28552477
Rheumatoid arthritis Rheumatoid Arthritis rs587776843 24390342, 30423114
Unknown
Disease term Disease name Evidence References Source
Metabolic Syndrome Metabolic Syndrome GWAS
Alzheimer disease Alzheimer disease GWAS
Associations from Text Mining
Disease Name Relationship Type References
Alzheimer Disease Associate 10880397, 33712570, 36776048
Breast Neoplasms Inhibit 23819905
Cognitive Dysfunction Stimulate 25756588
Common Variable Immunodeficiency Associate 30723478
Diabetes Mellitus Associate 28694205
Dyslipidemias Associate 28694205
Hypomagnesemia primary Associate 37960754
Ischemia Stimulate 12507910
Leukemia Myelomonocytic Chronic Associate 12130532