RAB33B - RAB33B, member RAS oncogene family Gene

Also Known as SMC2

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 83452

About RAB33B

Cytogenetic location: 4q31.1 Genomic coordinates (GRCh38): 4:139,438,376-139,476,609 (from NCBI)

This gene has 3 transcripts (splice variants), 272 orthologues, 68 paralogues and is associated with 2 phenotypes. Ubiquitous expression in fat (RPKM 5.5), ovary (RPKM 5.0) and 25 other tissues.

Summary

This gene encodes a small GTP-binding protein of the Rab GTPase family, whose members function in vesicle transport during protein secretion and endocytosis. Rab GTPases are active, membrane-associated proteins that recruit effector proteins in the GTP-bound state and inactive cytosolic proteins when in a GDP-bound state. The protein encoded by this gene is ubiquitously expressed and has been implicated in Golgi to endoplasmic reticulum cycling of Golgi Enzymes. In addition, this protein regulates Golgi homeostasis and coordinates intra-Golgi retrograde trafficking. Allelic variants in this gene have been associated with Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia 2, which are autosomal recessive spondyloepimetaphyseal dysplasias characterized by skeletal abnormalities. [provided by RefSeq, Sep 2016]

RAB33B Products (1)

mRNA	Protein	Name
NM_031296.3	NP_112586.1	ras-related protein Rab-33B

RAB33B Protein Structure

Ras

0
100
200
229 a.a.

Protein Preferred Names	Protein Names
ras-related protein Rab-33B

RAB33B 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	RAB33B	Q9H082	SIAH1	Homo sapiens	Q8IUQ4-2	Y2H Prey Pooling	32296183
Intra	RAB33B	Q9H082	SIAH1	Homo sapiens	Q8IUQ4-2	Y2H Array	32296183
Intra	RAB33B	Q9H082	RUFY2	Homo sapiens	Q8WXA3-4	Y2H Prey Pooling	32296183
Intra	RAB33B	Q9H082	ATG16L1	Homo sapiens	Q676U5	Anti Tag CoIP	33961781
Intra	RAB33B	Q9H082	ATG16L1	Homo sapiens	Q676U5	Y2H Array	32296183
Intra	RAB33B	Q9H082	ATG16L1	Homo sapiens	Q676U5	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

Diseases	Alias
Smith-Mccort Dysplasia 2	SMC2 Dysplasia, Smith-Mccort, Type 2
Smith-Mccort Dysplasia 1	Smith-Mccort Dysplasia SMC1 Smc Smith Mccort Dysplasia Smith-Mccort Dwarfism
Dyggve-Melchior-Clausen Disease	Dyggve-Melchior-Clausen Syndrome DMC Dmc Disease Pseudo-Morquio Disease Type I Dmc Syndrome
Microcephaly And Chorioretinopathy 2
Osteochondrodysplasia	Skeletal Dysplasia Chondrodystrophy Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Spondyloepiphyseal Dysplasia Tarda X-Linked Spondyloepiphyseal Dysplasia Tarda SEDT Sed Tarda, X-Linked Spondyloepiphyseal Dysplasia, Late Spondyloepiphyseal Dysplasia Tarda X-Linked Sed X Linked Spondyloepiphyseal Dysplasia Tarda X-Linked Spondyloepiphyseal Dysplasia Late Onset Spondyloepiphyseal Dysplasia Sed Tarda X-Linked Sed X-Linked Sedt Dysplasia, Spondyloepiphyseal, Tarda Spondyloepiphyseal Dysplasia
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
Legionellosis	Legionella Infection Pontiac Fever Legionnaires' Disease Infection By Legionella Pneumophilia Legionella Pneumophila Infection
Spondyloepimetaphyseal Dysplasia	Dysplasia, Spondyloepimetaphyseal
Geroderma Osteodysplasticum	Gerodermia Osteodysplastica Geroderma Osteodysplastica GO Walt Disney Dwarfism Type Of Gerodermia Osteodysplastica
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly

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-RS11547	RAB33B Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	ID
Felis catus	RAB33B	VGNC	VGNC:107433
Canis familiaris	RAB33B	VGNC	VGNC:45276
Bos taurus	RAB33B	VGNC	VGNC:33643
Macaca mulatta	RAB33B	VGNC	VGNC:81532
Rattus norvegicus	RAB33B	RGD	RGD:1308353
Mus musculus	RAB33B	MGD	MGI:1330805
Others	RAB33B	NCBI