RAB18 - RAB18, member RAS oncogene family Gene

Homo sapiens

Also known as WARBM3; RAB18LI1

Gene ID: 22931 | Gene type: protein coding

About RAB18

Cytogenetic location: 10p12.1 Genomic coordinates (GRCh38): 10:27,504,304-27,542,239 (from NCBI)

This gene has 45 transcripts (splice variants), 183 orthologues, 68 paralogues and is associated with 3 phenotypes. Ubiquitous expression in adrenal (RPKM 23.5), brain (RPKM 23.2) and 25 other tissues.

Summary

The protein encoded by this gene is a member of a family of Ras-related small GTPases that regulate membrane trafficking in organelles and transport vesicles. Knockdown studies is zebrafish suggest that this protein may have a role in eye and brain development. Mutations in this gene are associated with Warburg micro syndrome type 3. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]

RAB18 Products(4)

mRNA	Protein	Name
NM_001256410.2	NP_001243339.1	ras-related protein Rab-18 isoform 2
NM_001256411.2	NP_001243340.1	ras-related protein Rab-18 isoform 3
NM_001256412.2	NP_001243341.1	ras-related protein Rab-18 isoform 5
NM_021252.5	NP_067075.1	ras-related protein Rab-18 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	20937701	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	23935497	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in endoplasmic reticulum tubular network organization	IMP IMP: Inferred from mutant phenotype	24891604	GOA
acts upstream of or within lipid droplet organization	IMP IMP: Inferred from mutant phenotype	24239381	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in endoplasmic reticulum tubular network	IDA IDA: Inferred from direct assay	24891604	GOA
located in lipid droplet	IDA IDA: Inferred from direct assay	30970241	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

RAB18 Protein Structure

Ras

0
100
206 a.a.

Protein Preferred Names

Protein Names

ras-related protein Rab-18

RAB18 small GTPase

RAB18 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	RAB18	Q9NP72	AQP6	Homo sapiens	Q13520	Y2H Array	32296183
Intra	RAB18	Q9NP72	AQP6	Homo sapiens	Q13520	Y2H Prey Pooling	32296183
Intra	RAB18	Q9NP72	ELOVL4	Homo sapiens	Q9GZR5	Y2H Prey Pooling	32296183
Intra	RAB18	Q9NP72	ELOVL4	Homo sapiens	Q9GZR5	Y2H Array	32296183
Intra	RAB18	Q9NP72	TAX1BP1	Homo sapiens	Q86VP1	Y2H Prey Pooling	25416956
Intra	RAB18	Q9NP72	TAX1BP1	Homo sapiens	Q86VP1	Y2H Array	25416956
Intra	RAB18	Q9NP72	TAX1BP1	Homo sapiens	Q86VP1	Validated Y2H	25416956
Cross	RAB18	Q9NP72	Q99IB8-PRO_0000045602	Hepatitis C virus	Q99IB8-PRO_0000045602	EM	23935497
Cross	RAB18	Q9NP72	Q99IB8-PRO_0000045602	Hepatitis C virus	Q99IB8-PRO_0000045602	Imaging	23935497
Cross	RAB18	Q9NP72	Q99IB8-PRO_0000045602	Hepatitis C virus	Q99IB8-PRO_0000045602	Pull Down	23935497

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Warburg Micro Syndrome 3

WARBM3

Micro Syndrome 3

Warburg Micro Syndrome 1

Warburg Micro Syndrome	Micro Syndrome
Warbm	WARBM1
Warburg Sjo Fledelius Syndrome	Warburg-Sjo-Fledelius Syndrome
Micro Syndrome 1	Microcephaly, Microcornea, Congenital Cataract, Intellectual Disability, Optic Atrophy And Hypogenitalism

Rab18 Deficiency

Warburg Micro Syndrome 2

WARBM2

Micro Syndrome 2

Spastic Diplegia

Diplegic Infantile Cerebral Palsy	Little'S Disease
Cerebral Palsy	Cerebral Spastic Infantile Paralysis
Infantile Diplegic Cerebral Palsy	Infantile Spastic Cerebral Palsy
Littles Disease	Spastic Cerebral Palsy

Martsolf Syndrome 1

Martsolf Syndrome	Cataract-Intellectual Disability-Hypogonadism Syndrome
MARTS1	Marts
Cataract-Mental Retardation-Hypogonadism	Martsolf

Warburg Micro Syndrome 4

WARBM4

Micro Syndrome 4

Intellectual Developmental Disorder, Autosomal Dominant 38

Psychomotor Retardation, Epilepsy, And Language Disability Syndrome	MRD38
Prelds	Autosomal Dominant Non-Syndromic Intellectual Disability 38
Mental Retardation, Autosomal Dominant 38	Autosomal Dominant Intellectual Developmental Disorder 38
Autosomal Dominant Mental Retardation 38	Mental Retardation, Autosomal Dominant, Type 38

Microphthalmia

Microphthalmos	Isolated Anophthalmia-Microphthalmia Syndrome
Isolated Microphthalmia-Anophthalmia-Coloboma	Simple Microphthalmos
Clinical Anophthalmia	Isolated Anophthalmia - Microphthalmia
Isolated Pure Microphthalmia	Mac Spectrum
Microphthalmia-Anophthalmia-Coloboma Spectrum	Primitive Anophthalmia
Globe Of Eye Small	Small Eyeball
Hypoplasia Of Eye	Isolated Nanophthalmos
Rudimentary Eye	Dysplasia Of Eye

Sotos Syndrome 2

Sotos2

Sotos Syndrome, Type 2

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

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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

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-RS11526	RAB18 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	RAB18	VGNC	VGNC:33624
Felis catus	RAB18	VGNC	VGNC:97582
Macaca mulatta	RAB18	VGNC	VGNC:106095
Canis familiaris	RAB18	VGNC	VGNC:45257
Mus musculus	RAB18	MGD	MGI:102790
Rattus norvegicus	RAB18	RGD	RGD:1308905

Name
Email *

	Sorry, but the email address you supplied was invalid.