RAB4A - RAB4A, member RAS oncogene family Gene

Homo sapiens

Also known as RAB4; HRES1; HRES-1; HRES-1/RAB4

Gene ID: 5867 | Gene type: protein coding

About RAB4A

Cytogenetic location: 1q42.13 Genomic coordinates (GRCh38): 1:229,271,111-229,305,894 (from NCBI)

This gene has 5 transcripts (splice variants), 206 orthologues and 68 paralogues. Ubiquitous expression in prostate (RPKM 22.3), heart (RPKM 17.5) and 25 other tissues.

Summary

This gene is a member of the largest group in the Ras superfamily of small GTPases, which regulate membrane trafficking. The encoded protein is associated with early endosomes and is involved in their sorting and recycling. The protein also plays a role in regulating the recycling of receptors from endosomes to the plasma membrane. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2012]

RAB4A Products(2)

mRNA	Protein	Name
NM_001271998.2	NP_001258927.1	ras-related protein Rab-4A isoform 2
NM_004578.4	NP_004569.2	ras-related protein Rab-4A 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	15907487	GOA
enables GTP binding	IDA IDA: Inferred from direct assay	15907487	GOA
enables GTPase activity	IDA IDA: Inferred from direct assay	15907487	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16034420	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in antigen processing and presentation	IMP IMP: Inferred from mutant phenotype	19717423	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in extracellular exosome	IDA IDA: Inferred from direct assay	15326289	GOA
located in perinuclear region of cytoplasm	IDA IDA: Inferred from direct assay	19590752	GOA
located in vesicle	IDA IDA: Inferred from direct assay	19590752	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

Protein Preferred Names

Protein Names

ras-related protein Rab-4A

HTLV-1 related endogenous sequence

RAB4A Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	RAB4A	P20338	GDI2	Homo sapiens	P50395	Anti Tag CoIP	33961781
Intra	RAB4A	P20338	GDI2	Homo sapiens	P50395	Anti Tag CoIP	19570034
Intra	RAB4A	P20338	GDI2	Homo sapiens	P50395	Anti Tag CoIP	35271311
Intra	RAB4A	P20338	RBSN	Homo sapiens	Q9H1K0	Validated Y2H	32296183
Intra	RAB4A	P20338	RBSN	Homo sapiens	Q9H1K0	BRET	29997244
Intra	RAB4A	P20338	RBSN	Homo sapiens	Q9H1K0	Y2H Prey Pooling	32296183
Intra	RAB4A	P20338	RBSN	Homo sapiens	Q9H1K0	Y2H Array	32296183
Intra	RAB4A	P20338	KCTD7	Homo sapiens	Q96MP8-2	Validated Y2H	32296183
Intra	RAB4A	P20338	HACE1	Homo sapiens	Q8IYU2	Y2H Array	32296183
Intra	RAB4A	P20338	HACE1	Homo sapiens	Q8IYU2	Y2H Prey Pooling	32296183
Intra	RAB4A	P20338	HACE1	Homo sapiens	Q8IYU2	Validated Y2H	32296183
Intra	RAB4A	P20338	RABEP1	Homo sapiens	Q15276	Y2H Prey Pooling	32296183
Intra	RAB4A	P20338	RABEP1	Homo sapiens	Q15276	Validated Y2H	32296183
Intra	RAB4A	P20338	RABEP1	Homo sapiens	Q15276	Y2H Array	32296183
Intra	RAB4A	P20338	GRIPAP1	Homo sapiens	Q4V328	Y2H	21988832
Intra	RAB4A	P20338	GRIPAP1	Homo sapiens	Q4V328	Validated Y2H	32296183
Intra	RAB4A	P20338	GRIPAP1	Homo sapiens	Q4V328	Y2H Array	32296183
Intra	RAB4A	P20338	GRIPAP1	Homo sapiens	Q4V328	Y2H Prey Pooling	32296183
Intra	RAB4A	P20338	GARIN6	Homo sapiens	Q8NEG0	Y2H Array	32296183
Intra	RAB4A	P20338	GARIN6	Homo sapiens	Q8NEG0	Y2H Prey Pooling	32296183
Intra	RAB4A	P20338	GARIN6	Homo sapiens	Q8NEG0	Validated Y2H	32296183
Intra	RAB4A	P20338	GDI1	Homo sapiens	P31150	Anti Tag CoIP	35271311
Intra	RAB4A	P20338	EXOC5	Homo sapiens	O00471	Y2H Array	25416956
Intra	RAB4A	P20338	EXOC5	Homo sapiens	O00471	Y2H Prey Pooling	32296183
Intra	RAB4A	P20338	EXOC5	Homo sapiens	O00471	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

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

Diffuse Infiltrative Lymphocytosis Syndrome

Charcot-Marie-Tooth Disease, Type 4d

Charcot-Marie-Tooth Disease Type 4d	CMT4D
Hmsnl	Hmsn4d
Charcot-Marie-Tooth Neuropathy Type 4d	Hereditary Motor And Sensory Neuropathy Lom Type
Hmsn-Lom	Neuropathy, Hereditary Motor And Sensory, Lom Type
Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4d	Charcot-Marie-Tooth Neuropathy, Type 4d
Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4d	Hmsn Lom Type
Hmsn, Lom Type	Hereditary Motor And Sensory Neuropathy, Lom Type
Charcot-Marie-Tooth Disease 4d	Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4d
Hereditary Motor And Sensory Neuropathy Ivd	Hmsn Ivd

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

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

Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

Charcot-Marie-Tooth Disease Type 4	Charcot-Marie-Tooth Disease Type 4e
Hereditary Motor And Sensory Neuropathy	Cmt4e
CHN1	Hypomyelinating Neuropathy, Congenital, 1
Charcot-Marie-Tooth Neuropathy Type 4e	Neuropathy, Congenital Hypomyelinating, 1
Ar-Cmt1	Autosomal Recessive Demyelinating Charcot-Marie-Tooth
Cmt4	Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive
Hypomyelination, Severe Congenital	Charcot-Marie-Tooth Disease, Type 4e
Charcot-Marie-Tooth Neuropathy, Type 4e	Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy
Autosomal Recessive Congenital Hypomyelinating Neuropathy	Congenital Amyelinating Neuropathy
Congenital Hypomyelinating Neuropathy Autosomal Recessive	Neuropathy, Congenital Hypomyelinating Or Amyelinating
Severe Congenital Hypomyelination	Hereditary Sensory Motor Neuropathy
Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive	Neuropathy, Hypomyelinating, Congenital, Type 1
Neuropathy, Motor And Sensory, Hereditary	Congenital Hypomyelinating Neuropathy
Hereditary Motor And Sensory Neuropathies	Hereditary Sensorimotor Neuropathy
Hmsn - [Hereditary Motor And Sensory Neuropathy]	Hsmn - [Hereditary Sensory And Motor Neuropathy]
Hereditary Motor And Sensory Neuropathy, Types I-Iv

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-RS11569	RAB4A Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	RAB4A	VGNC	VGNC:81545
Rattus norvegicus	RAB4A	RGD	RGD:3529
Canis familiaris	RAB4A	VGNC	VGNC:45290
Mus musculus	RAB4A	MGD	MGI:105069
Bos taurus	RAB4A	VGNC	VGNC:33657

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