RAB28 - RAB28, member RAS oncogene family Gene

Also Known as CORD18

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9364

About RAB28

Cytogenetic location: 4p15.33 Genomic coordinates (GRCh38): 4:13,367,724-13,484,340 (from NCBI)

This gene has 8 transcripts (splice variants), 146 orthologues, 68 paralogues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 2.8), brain (RPKM 1.4) and 24 other tissues.

Summary

This gene encodes a member of the Rab subfamily of Ras-related small GTPases. The encoded protein may be involved in regulating intracellular trafficking. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 9 and X. [provided by RefSeq, Apr 2009]

RAB28 Products (3)

mRNA	Protein	Name
NM_001017979.3	NP_001017979.1	ras-related protein Rab-28 isoform 1
NM_001159601.2	NP_001153073.1	ras-related protein Rab-28 isoform 3
NM_004249.4	NP_004240.2	ras-related protein Rab-28 isoform 2

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Références	Source
enables GDP binding	IDA IDA: Inferred from direct assay	19026641	GOA
enables GTP binding	IDA IDA: Inferred from direct assay	19026641	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	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

RAB28 Protein Structure

Ras

0
100
200
221 a.a.

Protein Preferred Names	Protein Names
ras-related protein Rab-28

RAB28 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Intra	RAB28	P51157	ACSF3	Homo sapiens	Q4G176	Validated Y2H	32296183
Intra	RAB28	P51157	PLEKHF2	Homo sapiens	Q9H8W4	Validated Y2H	32296183
Intra	RAB28	P51157	PLEKHF2	Homo sapiens	Q9H8W4	Y2H Array	32296183
Intra	RAB28	P51157	PLEKHF2	Homo sapiens	Q9H8W4	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Cone-Rod Dystrophy 18	CORD18 Dystrophy, Cone-Rod, Type 18
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy
Syndromic X-Linked Intellectual Disability Shashi Type	Mental Retardation, X-Linked, Syndromic 11, Shashi Type Mrxs11 Shashi X-Linked Mental Retardation Syndrome Smrxs Syndromic X-Linked Intellectual Disability Type 11 X-Linked Mental Retardation Shashi Type Mental Retardation, X-Linked, Syndromic 11
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Cone-Rod Dystrophy 16	Retinitis Pigmentosa 64 Retinal Dystrophy With Early Macular Involvement CORD16 RP64
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
Oguchi Disease 1	Oguchi Disease-1 CSNBO1 Night Blindness, Congenital Stationary, Oguchi Type 1 Congenital Stationary Night Blindness Oguchi Type 1 Oguchi Disease
Oguchi Disease 2	Oguchi Disease-2 CSNBO2 Night Blindness, Congenital Stationary, Oguchi Type 2 Congenital Stationary Night Blindness Oguchi Type 2
Spherocytosis, Type 1	Hereditary Spherocytosis Type 1 SPH1 Hs1 Spherocytosis, Hereditary, 1 Sph Hs Hereditary Spherocytosis 1 Spherocytosis 1
Vitreoretinochoroidopathy	Autosomal Dominant Vitreoretinochoroidopathy Advirc Vitreoretinochoroidopathy With Microcornea, Glaucoma, And Cataract Vitreoretinochoroidopathy, Autosomal Dominant, With Nanophthalmos Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 2 Vitreoretinochoroidopathy Dominant VRCP Vitreoretinochoroidopathy, Autosomal Dominant Vrcp Autosomal Dominant Vitreoretinochoroidopathy Autosomal Dominant With Nanophthalmos, Microcornea, Rod-Cone Dystrophy, Cataract And Posterior Staphyloma Vitreoretinochoroidopathy With Microcornea-Glaucoma-Cataract
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
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
Achromatopsia	Achm Rod Monochromatism Total Color Blindness Rod Monochromacy Monochromatism Achromatism Complete Or Incomplete Color Blindness Pingelapese Blindness Achromatopsia 1 Achromatopsia 2 Achromatopsia 3
Cone Dystrophy	Retinal Cone Dystrophy Dystrophy, Cone Cone Dystrophy 3
Leber Plus Disease	Leber Congenital Amaurosis Lca Leber'S Amaurosis Leber'S Disease Amaurosis Congenita Of Leber Amaurosis Congenita Of Leber, Type 1 Lhon Plus Disease Congenital Absence Of The Rods And Cones Congenital Retinal Blindness Crb Congenital Amaurosis Of Retinal Origin Leber'S Congenital Amaurosis Leber Congenital Amaurosis 1 Leber'S Congenital Tapetoretinal Degeneration Leber'S Congenital Tapetoretinal Dysplasia Lca1 Leber Congenital Amaurosis Type 1 Retinal Blindness, Congenital Amaurosis, Leber Congenital Dysgenesis Neuroepithelialis Retinae Hereditary Epithelial Dysplasia Of Retina Hereditary Retinal Aplasia Heredoretinopathia Congenitalis Leber Abiotrophy Leber Congenital Tapetoretinal Degeneration Lebers Congenital Amaurosis Optic Atrophy, Hereditary, Leber

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 (3)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS11539	RAB28 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22760	Rab28 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS29274	Rab28 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	RAB28	VGNC	VGNC:33635
Mus musculus	RAB28	MGD	MGI:1917285
Rattus norvegicus	RAB28	RGD	RGD:620891
Felis catus	RAB28	VGNC	VGNC:79983
Macaca mulatta	RAB28	VGNC	VGNC:97816
Canis familiaris	RAB28	VGNC	VGNC:45269
Others	RAB28	NCBI