RAB5A - RAB5A, member RAS oncogene family Gene

Homo sapiens

Also known as RAB5

Gene ID: 5868 | Gene type: protein coding

About RAB5A

Cytogenetic location: 3p24.3 Genomic coordinates (GRCh38): 3:19,947,097-19,985,175 (from NCBI)

This gene has 8 transcripts (splice variants), 266 orthologues and 68 paralogues. Ubiquitous expression in brain (RPKM 22.0), thyroid (RPKM 19.7) and 25 other tissues.

Summary

Enables GDP binding activity; GTP binding activity; and GTPase activity. Involved in several processes, including amyloid-beta clearance by transcytosis; early endosome to late endosome transport; and regulation of exocytosis. Located in several cellular components, including cytoplasmic side of early endosome membrane; nucleoplasm; and terminal bouton. [provided by Alliance of Genome Resources, Apr 2022]

RAB5A Products(2)

mRNA	Protein	Name
NM_001292048.2	NP_001278977.1	ras-related protein Rab-5A isoform 2
NM_004162.5	NP_004153.2	ras-related protein Rab-5A isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables GDP binding	IDA IDA: Inferred from direct assay	15378032	GOA
enables GTP binding	IDA IDA: Inferred from direct assay	15378032	GOA
enables GTPase activity	IDA IDA: Inferred from direct assay	15378032	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	7957092	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in amyloid-beta clearance by transcytosis	IGI IGI: Inferred from genetic interaction	26005850	GOA
involved in canonical Wnt signaling pathway	IDA IDA: Inferred from direct assay	16890161	GOA
involved in early endosome to late endosome transport	IMP IMP: Inferred from mutant phenotype	17562788	GOA
involved in endocytosis	IDA IDA: Inferred from direct assay	15378032	GOA
involved in modulation by host of viral process	IMP IMP: Inferred from mutant phenotype	19376974	GOA
involved in positive regulation of exocytosis	IMP IMP: Inferred from mutant phenotype	19966785	GOA
involved in receptor internalization	IMP IMP: Inferred from mutant phenotype	16890161	GOA
involved in regulation of endosome size	IMP IMP: Inferred from mutant phenotype	17562788	GOA
involved in regulation of filopodium assembly	IDA IDA: Inferred from direct assay	14978216	GOA
involved in regulation of synaptic vesicle exocytosis	IMP IMP: Inferred from mutant phenotype	16141272	GOA
involved in synaptic vesicle recycling	IDA IDA: Inferred from direct assay	16141272	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	18034774	GOA
located in cytoplasmic side of early endosome membrane	IMP IMP: Inferred from mutant phenotype	23382462	GOA
located in cytosol	IDA IDA: Inferred from direct assay	23382462	GOA
located in early endosome	IDA IDA: Inferred from direct assay	15078902	GOA
located in endosome membrane	IDA IDA: Inferred from direct assay	15016378	GOA
located in somatodendritic compartment	IDA IDA: Inferred from direct assay	16141272	GOA
located in terminal bouton	IDA IDA: Inferred from direct assay	16141272	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

RAB5A Protein Structure

Ras

0
100
200
215 a.a.

Protein Preferred Names

Protein Names

ras-related protein Rab-5A

RAS-associated protein RAB5A

RAB5A Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	RAB5A	P20339	PNMA5	Homo sapiens	Q96PV4	Y2H Array	32814053
Intra	RAB5A	P20339	PNMA5	Homo sapiens	Q96PV4	Y2H Pooling	32814053
Intra	RAB5A	P20339	PNMA5	Homo sapiens	Q96PV4	Validated Y2H	32814053
Intra	RAB5A	P20339	MBIP	Homo sapiens	Q9NS73-5	Y2H Array	32814053
Intra	RAB5A	P20339	MBIP	Homo sapiens	Q9NS73-5	Validated Y2H	32814053
Intra	RAB5A	P20339	MBIP	Homo sapiens	Q9NS73-5	Y2H Pooling	32814053
Intra	RAB5A	P20339	ALS2	Homo sapiens	Q96Q42	Pull Down	21300063
Intra	RAB5A	P20339	SUN2	Homo sapiens	Q9UH99	Anti Tag CoIP	26496610
Intra	RAB5A	P20339	SUN2	Homo sapiens	Q9UH99	Anti Tag CoIP	31980649
Intra	RAB5A	P20339	SYNC	Homo sapiens	Q9H7C4	Validated Y2H	32814053
Intra	RAB5A	P20339	SYNC	Homo sapiens	Q9H7C4	Y2H Array	32814053
Intra	RAB5A	P20339	SYNC	Homo sapiens	Q9H7C4	Y2H Pooling	32814053
Intra	RAB5A	P20339	TCF3	Homo sapiens	P15923-3	Y2H Pooling	32814053
Intra	RAB5A	P20339	TCF3	Homo sapiens	P15923-3	Validated Y2H	32814053
Intra	RAB5A	P20339	TCF3	Homo sapiens	P15923-3	Y2H Array	32814053
Intra	RAB5A	P20339	CAMK2A	Homo sapiens	Q9UQM7	Validated Y2H	32814053
Intra	RAB5A	P20339	CAMK2A	Homo sapiens	Q9UQM7	Y2H Array	32814053
Intra	RAB5A	P20339	CAMK2A	Homo sapiens	Q9UQM7	Y2H Pooling	32814053
Intra	RAB5A	P20339	ANKFY1	Homo sapiens	Q9P2R3	Pull Down	15328530
Intra	RAB5A	P20339	EEA1	Homo sapiens	Q15075	Y2H	10491193
Intra	RAB5A	P20339	EEA1	Homo sapiens	Q15075	Y2H	9697774
Intra	RAB5A	P20339	PPP1R21	Homo sapiens	Q6ZMI0	Pull Down	37267906
Intra	RAB5A	P20339	OCRL	Homo sapiens	Q01968	GMS	21378754
Intra	RAB5A	P20339	OCRL	Homo sapiens	Q01968	Pull Down	16902405
Intra	RAB5A	P20339	INCA1	Homo sapiens	Q0VD86	Validated Y2H	32814053
Intra	RAB5A	P20339	INCA1	Homo sapiens	Q0VD86	Y2H Pooling	32814053
Intra	RAB5A	P20339	INCA1	Homo sapiens	Q0VD86	Y2H Array	32814053
Intra	RAB5A	P20339	LAMTOR1	Homo sapiens	Q6IAA8	Validated Y2H	32814053
Intra	RAB5A	P20339	LAMTOR1	Homo sapiens	Q6IAA8	Y2H Array	32814053
Intra	RAB5A	P20339	LAMTOR1	Homo sapiens	Q6IAA8	Y2H Pooling	32814053
Intra	RAB5A	P20339	ZNF20	Homo sapiens	P17024	Validated Y2H	32814053
Intra	RAB5A	P20339	ZNF20	Homo sapiens	P17024	Y2H Array	32814053
Intra	RAB5A	P20339	ZNF20	Homo sapiens	P17024	Y2H Pooling	32814053
Intra	RAB5A	P20339	APPL1	Homo sapiens	Q9UKG1	IF	17581628
Intra	RAB5A	P20339	APPL1	Homo sapiens	Q9UKG1	Pull Down	17581628
Intra	RAB5A	P20339	APPL1	Homo sapiens	Q9UKG1	Validated Y2H	32296183
Intra	RAB5A	P20339	APPL1	Homo sapiens	Q9UKG1	BioID	29568061
Intra	RAB5A	P20339	CCDC120	Homo sapiens	Q96HB5	Validated Y2H	32814053
Intra	RAB5A	P20339	CCDC120	Homo sapiens	Q96HB5	Y2H Array	32814053
Intra	RAB5A	P20339	CCDC120	Homo sapiens	Q96HB5	Y2H Pooling	32814053
Intra	RAB5A	P20339	C1orf216	Homo sapiens	Q8TAB5	Validated Y2H	32814053
Intra	RAB5A	P20339	C1orf216	Homo sapiens	Q8TAB5	Y2H Array	32814053
Intra	RAB5A	P20339	C1orf216	Homo sapiens	Q8TAB5	Y2H Pooling	32814053
Intra	RAB5A	P20339	FANCG	Homo sapiens	O15287	Y2H Pooling	32814053
Intra	RAB5A	P20339	FANCG	Homo sapiens	O15287	Validated Y2H	32814053
Intra	RAB5A	P20339	FANCG	Homo sapiens	O15287	Y2H Array	32814053
Intra	RAB5A	P20339	TCAP	Homo sapiens	O15273	Validated Y2H	32814053
Intra	RAB5A	P20339	TCAP	Homo sapiens	O15273	Y2H Pooling	32814053
Intra	RAB5A	P20339	TCAP	Homo sapiens	O15273	Y2H Array	32814053
Cross	RAB5A	P20339	PIK3R1	Bos taurus	P23727	GTPase Assay	15377662
Cross	RAB5A	P20339	PIK3R1	Bos taurus	P23727	Pull Down	15377662

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Motor Neuron Disease

Anterior Horn Cell Disease	Motor Neuron Diseases
Mnd - [Motor Neurone Disease]	Lou Gehrig Disease
Creeping Palsy	Creeping Paralysis
Bulbar Motor Neuron Disease	Bulbar Syndrome
Anterior Horn Cell Disorder	Hereditary Motor Neuron Disease

Choroideremia

CHM	Tcd
Progressive Tapetochoroidal Dystrophy	Choroidal Sclerosis
Tapetochoroidal Dystrophy, Progressive	Progressive Choroidal Atrophy
Tapetochoroidal Dystrophy

Tuberous Sclerosis 2

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

Human Monocytic Ehrlichiosis

Ehrlichiosis Chafeensis	Hme
Human Ehrlichial Infection, Human Monocytic Type

Charcot-Marie-Tooth Disease, Axonal, Type 2b

Charcot-Marie-Tooth Disease Type 2b	CMT2B
Hmsn Iib	Hmsn2b
Charcot-Marie-Tooth Disease, Type 2b	Hereditary Motor And Sensory Neuropathy Iib
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2b	Charcot-Marie-Tooth Neuropathy Type 2b
Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2b	Charcot-Marie-Tooth Neuropathy, Type 2b
Hereditary Motor And Sensory Nueropathy Iib	Cmt 2b
Charcot Marie Tooth Disease Type 2b	Charcot-Marie-Tooth Disease, Neuronal, Type 2b
Hereditary Motor And Sensory Neuropathy 2 B	Peripheral Sensory Neuropathy, Autosomal Dominant
Charcot-Marie-Tooth Disease 2b	Charcot-Marie-Tooth Disease Axonal Type 2b
Charcot-Marie-Tooth Disease Neuronal Type 2b	Peripheral Sensory Neuropathy Autosomal Dominant
Psn

Borna Disease

Enzootic Encephalomyelitis

Rabies

Lyssa	Hydrophobia
St Hubert Disease

Legionnaire Disease

Legionnaires' Disease	Legionnaires Disease
Legionnaire Disease, Susceptibility To	Legionella
Legionella Pneumonia	Infection By Legionella Pneumophilia
Legionnaire'S Disease	Legionellosis
Legionaire Disease, Susceptibility To	Legionnaires Pneumonia

Down Syndrome

Trisomy 21	Complete Trisomy 21 Syndrome
Down'S Syndrome	Trisomy 21 Syndrome
Down'S Syndrome - Trisomy 21	Downs Syndrome
G Trisomy	47,Xx,+21
47,Xy,+21	Trisomy G
Down Syndrome, Susceptibility To	Chromosome 21 Trisomy
Trisomy 21 Nos	Abnormal Autosomes 21

Lowe Oculocerebrorenal Syndrome

Lowe Syndrome	Oculocerebrorenal Syndrome
OCRL	Oculocerebrorenal Syndrome Of Lowe
Ocrl1	Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency
Lowe Disease	Phosphatidylinositol 4,5-Biphosphate 5-Phosphatase Deficiency
Cerebrooculorenal Syndrome	Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase Deficiency
Lowe Oculo-Cerebro-Renal Dystrophy	Lowe Oculo-Cerebro-Renal Syndrome
Lowe Oculocerebrorenal Dystrophy	Low
Chromosome 11p Deletion Syndrome	Oculocerebrorenal Dystrophy
Cerebro-Oculorenal Dystrophy	Ocrl1 - [Oculocerebrorenal Syndrome]
Lowe-Terrey-Maclachlan Syndrome	Renal-Oculocerebrodystrophy

Legionellosis

Legionella Infection	Pontiac Fever
Legionnaires' Disease	Infection By Legionella Pneumophilia
Legionella Pneumophila Infection

Diamond-Blackfan Anemia 20

DBA20

Rps15a-Related Diamond-Blackfan Anemia

Retinal Melanoma

Malignant Retinal Melanoma

Malignant Melanoma Of Retina

Human Granulocytic Anaplasmosis

Human Granulocytic Ehrlichiosis	Hge
Human Ehrlichial Infection, Human Granulocytic Type	Human Anaplasmosis Due To Anaplasma Phagocytophilum

Ehrlichiosis

Human Ehrlichiosis	He
Hey

Pontocerebellar Hypoplasia, Type 2e

Pontocerebellar Hypoplasia Type 2	Pontocerebellar Hypoplasia Type 2e
Pch2	PCH2E
Progressive Microcephaly From Birth Extrapyramidal Dyskinesia Chorea Epilepsy	Pontocerebellar Hypoplasia 2e
Pcca2	Progressive Cerebello-Cerebral Atrophy Type 2
Doid:0112328	Hypoplasia, Pontocerebellar, Type 2e
Pontocerebellar Hypoplasia, Type 2d	Pontocerebellar Hypoplasia Type 2a

Niemann-Pick Disease, Type C1

Niemann-Pick Disease, Type C	NPC1
Niemann-Pick Disease, Type D	Niemann-Pick Disease Type C1
Niemann-Pick Disease With Cholesterol Esterification Block	Niemann-Pick Disease, Subacute Juvenile Form
Neurovisceral Storage Disease With Vertical Supranuclear Ophthalmoplegia	Npc
Niemann-Pick Disease, Chronic Neuronopathic Form	Niemann-Pick Disease Without Sphingomyelinase Deficiency
Niemann-Pick Disease Type C	Niemann-Pick Disease Type D
Niemann-Pick C1 Disease	Niemann-Pick Disease C1
Niemann-Pick Disease Chronic Neuronopathic Form	Niemann-Pick Disease Nova Scotian Type
Niemann-Pick Disease Subacute Juvenile Form	Niemann-Pick Disease Type Ii
Niemann-Picks Disease Type C

Carpenter Syndrome 1

Carpenter Syndrome	Acrocephalopolysyndactyly Type Ii
Acps Ii	CRPT1
Acrocephalopolysyndactyly Type 2	Acrocephalosyndactyly, Type Ii
Acrocephalopolysyndactyly 2	Acps2
Acps 2	Type Ii Acrocephalosyndactyly
Carpenter Syndrome, Type 1	Apert-Crouzon Disease

Parkinson Disease, Late-Onset

Parkinson Disease	Parkinson'S Disease
PD	PARK
Parkinson Disease, Susceptibility To	Late Onset Parkinson'S Disease
Late Onset Parkinson Disease	Paralysis Agitans
Primary Parkinsonism	Idiopathic Parkinson Disease
Parkinson'S	Parkinson Disease, Late-Onset, Susceptibility To
Parkinson Disease, Age Of Onset, Modifier	Lewy Body Parkinson Disease
Idiopathic Parkinson'S Disease	Pd - [Parkinson Disease]
Parkinson Disease Nos	Parkinson, Nos
Primary Parkinson Disease

Niemann-Pick Disease

Sphingomyelin/Cholesterol Lipidosis	Niemann-Pick Diseases
Lipoid Histiocytosis	Sphingomyelin Lipidosis
Sphingomyelinase Deficiency Disease	Lipid Histiocytosis
Neuronal Cholesterol Lipidosis	Neuronal Lipidosis
Npd	Sphingomyelinase Deficiency
Niemann-Pick Disease, Type A

Cystic Fibrosis

Mucoviscidosis	CF
Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis	Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis
Cystic Fibrosis Lung Disease, Modifier Of	Cystic Fibrosis Of Pancreas
Fibrocystic Disease Of Pancreas	Cf - [Cystic Fibrosis]
Cystic Fibrosis Nos	Fibrocystic Disease
Fibrocystic Disease Of The Pancreas	Mucoviscidosis Of Pancreas
Nonproliferative Fibrocystic Disease	Pancreatic Cystic Fibrosis

Hermansky-Pudlak Syndrome

Hps	Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells
Hermanski-Pudlak Syndrome	Hermansky Pudlak Syndrome
Platelet Storage Pool Deficiency

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

Neuronal Ceroid Lipofuscinosis

Hereditary Ceroid Lipofuscinosis	Batten Disease
Ncl	Neuronal Ceroid-Lipofuscinoses
Lipofuscinosis, Ceroid, Neuronal	Juvenile Neuronal Ceroid Lipofuscinosis
Cerebromacular Dystrophy	Cerebromacular Degeneration
Ceroid-Lipofuscinosis	Ncl - [Neuronal Ceroid Lipofuscinosis]
Amaurotic Familial Idiocy	Amaurotic Idiocy
Amaurotic Idiot	Neuronal Lipofuscinosis
Pigmentary Retinal Lipoid Neuronal Heredodegeneration

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia	Hereditary Spastic Paraparesis
Strumpell-Lorrain Disease	Familial Spastic Paraparesis
Hsp	Spg
Strümpell-Lorrain Disease	Spastic Paraplegia, Hereditary
French Settlement Disease	Strumpell-Lorrain Syndrome
Fsp	Spastic Paraplegia, Familial
Spastic Paraplegia Hereditary	Spastic Paraplegia 3, Autosomal Dominant
Spastic Paraparesis	Hereditary Spastic Paralysis
Familial Spastic Paralysis	Hereditary Spastic Ataxia

Charcot-Marie-Tooth Disease

Cmt	Hmsn
Hereditary Motor And Sensory Neuropathy	Pma
Cmt - Charcot-Marie-Tooth Disease	Charcot Marie Tooth Disease
Charcot-Marie-Tooth Hereditary Neuropathy	Charcot-Marie-Tooth Syndrome
Peroneal Muscular Atrophy	Hereditary Motor And Sensory Neuropathies

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis	ALS
Lou Gehrig Disease	Amyotrophic Lateral Sclerosis Type 1
Charcot Disease	ALS1
Amyotrophic Lateral Sclerosis, Susceptibility To	Fals
Lou Gehrig'S Disease	Mnd
Motor Neuron Disease	Familial Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 1, Familial	Amyotrophic Lateral Sclerosis 1, Autosomal Dominant
Motor Neuron Disease, Bulbar	Motor Neurone Disease
Amyotrophic Lateral Sclerosis With Dementia	Dementia With Amyotrophic Lateral Sclerosis
Motor Neuron Disease, Amyotrophic Lateral Sclerosis	Sclerosis, Lateral, Amyotrophic
Sclerosis, Lateral, Amyotrophic, Type 1	Amyotrophic Sclerosis
Als - [Amyotrophic Lateral Sclerosis]	Wasting Palsy
Amyotrophic Paralysis	Amyotrophy Lateral Sclerosis
Wasting Paralysis	Spinal Progressive Amyotrophy
Progressive Atrophic Paralysis

Nervous System Disease

Abnormality Of The Nervous System	Nervous System Diseases
Nervous System Disorder

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-RS11571	RAB5A Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	RAB5A	RGD	RGD:620936
Bos taurus	RAB5A	VGNC	VGNC:33658
Canis familiaris	RAB5A	VGNC	VGNC:45291
Mus musculus	RAB5A	MGD	MGI:105926

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