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RABEP1 (rabaptin, RAB GTPase binding effector protein 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9135
Gene nameGene Name - the full gene name approved by the HGNC.
Rabaptin, RAB GTPase binding effector protein 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
RABEP1
SynonymsGene synonyms aliases
RAB5EP, RABPT5
ChromosomeChromosome number
17
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17p13.2
miRNAmiRNA 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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  Endocytosis   TBC/RABGAPs
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Anemia Anemia, Sickle Cell rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505 28552477
Rheumatoid arthritis Rheumatoid Arthritis rs3766379, rs3792876, rs2071592, rs3087456, rs587776843, rs1566328963, rs2240340, rs1557787212 24390342, 30423114

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