RABEP1 - rabaptin, RAB GTPase binding effector protein 1 Gene

Homo sapiens

Also known as RAB5EP; RABPT5

Gene ID: 9135 | Gene type: protein coding

About RABEP1

Cytogenetic location: 17p13.2 Genomic coordinates (GRCh38): 17:5,282,284-5,386,340 (from NCBI)

This gene has 7 transcripts (splice variants), 213 orthologues, 1 paralogue and is associated with 62 phenotypes. Ubiquitous expression in brain (RPKM 23.0), prostate (RPKM 14.6) and 25 other tissues.

Summary

Enables protein domain specific binding activity and protein homodimerization activity. Involved in vesicle-mediated transport. Located in endocytic vesicle and endosome. Part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022]

RABEP1 Products(4)

mRNA	Protein	Name
NM_001083585.3	NP_001077054.1	rab GTPase-binding effector protein 1 isoform 2
NM_001291581.2	NP_001278510.1	rab GTPase-binding effector protein 1 isoform 3
NM_001291582.2	NP_001278511.1	rab GTPase-binding effector protein 1 isoform 4
NM_004703.6	NP_004694.2	rab GTPase-binding effector protein 1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	12505986	GOA
enables protein domain specific binding	IPI IPI: Inferred from physical interaction	12767220	GOA
enables protein homodimerization activity	IPI IPI: Inferred from physical interaction	15378032	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in vesicle-mediated transport	IMP IMP: Inferred from mutant phenotype	22841712	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in endocytic vesicle	IDA IDA: Inferred from direct assay	20682791	GOA
located in endosome	IDA IDA: Inferred from direct assay	20682791	GOA
part of protein-containing complex	IMP IMP: Inferred from mutant phenotype	12767220	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RABEP1 Protein Structure

Rabaptin

Rab5-bind

0
200
400
600
819 a.a.

Protein Preferred Names

Protein Names

rab GTPase-binding effector protein 1

neurocrescin

RABEP1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	RABEP1	Q15276	ZNF774	Homo sapiens	Q6NX45	Validated Y2H	32296183
Intra	RABEP1	Q15276	MAT2B	Homo sapiens	Q9NZL9	Validated Y2H	32296183
Intra	RABEP1	Q15276	ZNF512B	Homo sapiens	Q96KM6	Validated Y2H	32296183
Intra	RABEP1	Q15276	TSHZ2	Homo sapiens	Q9NRE2	Validated Y2H	32296183
Intra	RABEP1	Q15276	PKP2	Homo sapiens	Q99959-2	Validated Y2H	32296183
Intra	RABEP1	Q15276	ABI2	Homo sapiens	Q9NYB9-2	Validated Y2H	32296183
Intra	RABEP1	Q15276	TRAPPC2L	Homo sapiens	Q9UL33-2	Validated Y2H	32296183
Intra	RABEP1	Q15276	UTP14C	Homo sapiens	Q5TAP6	Validated Y2H	32296183
Intra	RABEP1	Q15276	CEP57	Homo sapiens	Q86XR8-3	Validated Y2H	32296183
Intra	RABEP1	Q15276	ZNF438	Homo sapiens	Q7Z4V0	Validated Y2H	32296183
Intra	RABEP1	Q15276	RNF39	Homo sapiens	Q9H2S5	Validated Y2H	32296183
Cross	RABEP1	Q15276	yscH	Yersinia pestis	P68590	Y2H Array	21911467
Intra	RABEP1	Q15276	MCRS1	Homo sapiens	Q96EZ8	Validated Y2H	32296183
Intra	RABEP1	Q15276	AP1G2	Homo sapiens	O75843	Y2H	12505986
Intra	RABEP1	Q15276	CDKL3	Homo sapiens	Q8IVW4	Validated Y2H	32296183
Intra	RABEP1	Q15276	ESCO2	Homo sapiens	Q56NI9	Validated Y2H	32296183
Intra	RABEP1	Q15276	GGA1	Homo sapiens	Q9UJY5	Y2H	15143060
Intra	RABEP1	Q15276	GGA1	Homo sapiens	Q9UJY5	Y2H	12505986
Intra	RABEP1	Q15276	GGA1	Homo sapiens	Q9UJY5	Pull Down	15457209
Intra	RABEP1	Q15276	GGA1	Homo sapiens	Q9UJY5	Affinity Chrom	12505986
Intra	RABEP1	Q15276	GGA1	Homo sapiens	Q9UJY5	X-Ray Diffraction	15457209
Intra	RABEP1	Q15276	GGA3	Homo sapiens	Q9NZ52	Y2H	12505986
Intra	RABEP1	Q15276	AP1G1	Homo sapiens	O43747	Y2H	12505986
Intra	RABEP1	Q15276	GGA2	Homo sapiens	Q9UJY4	Anti Bait CoIP	12505986
Intra	RABEP1	Q15276	PELI2	Homo sapiens	Q9HAT8	Validated Y2H	32296183
Intra	RABEP1	Q15276	BARD1	Homo sapiens	Q99728	Validated Y2H	32296183
Intra	RABEP1	Q15276	FAM90A1	Homo sapiens	Q86YD7	Validated Y2H	32296183
Intra	RABEP1	Q15276	WASHC3	Homo sapiens	Q9Y3C0	Validated Y2H	32296183
Intra	RABEP1	Q15276	LENG1	Homo sapiens	Q96BZ8	Validated Y2H	32296183
Intra	RABEP1	Q15276	CFAP53	Homo sapiens	Q96M91	Validated Y2H	32296183
Intra	RABEP1	Q15276	FAM50B	Homo sapiens	Q9Y247	Validated Y2H	32296183
Intra	RABEP1	Q15276	CCDC120	Homo sapiens	Q96HB5	Validated Y2H	32296183
Intra	RABEP1	Q15276	TNS4	Homo sapiens	Q8IZW8	Validated Y2H	32296183
Intra	RABEP1	Q15276	RABGEF1	Homo sapiens	Q9UJ41	Anti Tag CoIP	35271311
Intra	RABEP1	Q15276	CDC73	Homo sapiens	Q6P1J9	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Tuberous Sclerosis 2

Tsc2 Angiomyolipomas, Renal, Modifier Of	TSC2
Tuberous Sclerosis	Tuberous Sclerosis-2
Tuberous Sclerosis, Type 2	Ts
Tuberous Sclerosis Complex

Chronic Myelomonocytic Leukemia

Leukemia, Myelomonocytic, Chronic	Cmml
Leukemia Myelomonocytic Chronic	Cmml - [Chronic Myelomonocytic Leukaemia]
Chronic Myelomonocytic Leukaemia Without Mention Of Remission	Chronic Monocytic Leukaemia
Chronic Monocytoid Leukaemia

Joubert Syndrome 13

JBTS13

Joubert Syndrome, Type 13

Smith-Mccort Dysplasia 1

Smith-Mccort Dysplasia	SMC1
Smc	Smith Mccort Dysplasia
Smith-Mccort Dwarfism

Dyggve-Melchior-Clausen Disease

Dyggve-Melchior-Clausen Syndrome	DMC
Dmc Disease	Pseudo-Morquio Disease Type I
Dmc Syndrome

Alzheimer Disease, Familial, 1

Alzheimer Disease	Alzheimer'S Disease
Presenile And Senile Dementia	AD1
Alzheimer Disease, Susceptibility To	Alzheimer Disease, Late-Onset, Susceptibility To
Alzheimer Disease 1, Familial	AD
Familial Alzheimer Disease	Alzheimer Disease, Late-Onset
Alzheimers Dementia	Alzheimer Dementia
Alzheimer Sclerosis	Alzheimer Syndrome
Alzheimer-Type Dementia	Dat
Primary Senile Degenerative Dementia	Sdat
Alzheimer Disease 1	Autosomal Dominant Alzheimer Disease
Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy	Late Onset Alzheimer Disease
Alzheimers Disease	Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy
Late-Onset Alzheimers Disease	Alzheimer'S Disease Pathway Kegg
Dementia Due To Alzheimer'S Disease	Alzheimer Disease Type 1
Alzheimers

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11582	RABEP1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	RABEP1	VGNC	VGNC:76502
Mus musculus	RABEP1	MGD	MGI:1860236
Felis catus	RABEP1	VGNC	VGNC:64473
Canis familiaris	RABEP1	VGNC	VGNC:45300
Rattus norvegicus	RABEP1	RGD	RGD:708568
Bos taurus	RABEP1	VGNC	VGNC:33667

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