RAB18 - RAB18, member RAS oncogene family Gene

Also Known as WARBM3; RAB18LI1

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 22931

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	参考文献	由来
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	参考文献	由来
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	参考文献	由来
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	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
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

RAB18 抗体

製品番号	製品名	アプリケーション	反応性
HY-P810834	RAB18 Antibody (YA10077)	WB, FC	Human, Mouse, Rat
HY-P811159	RAB18 Antibody	WB, IHC-P, ICC/IF	Human, Mouse

関連疾患

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

Pre-clinical Phase

Bioactive Molecules (1)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS11526	RAB18 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	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
Others	RAB18	NCBI