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 express... See more...

Aliases for RAB33B Gene

Aliases for RAB33B Gene

  • RAB33B, Member RAS Oncogene Family 2 3 5
  • Ras-Related Protein Rab-33B 3 4
  • DKFZP434G099 2
  • RAB33B 5
  • SMC2 3

External Ids for RAB33B Gene

Previous GeneCards Identifiers for RAB33B Gene

  • GC04P141280
  • GC04P140674
  • GC04P140841
  • GC04P140952
  • GC04P140732
  • GC04P140374
  • GC04P136104

Summaries for RAB33B Gene

Entrez Gene Summary for RAB33B Gene

  • 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]

GeneCards Summary for RAB33B Gene

RAB33B (RAB33B, Member RAS Oncogene Family) is a Protein Coding gene. Diseases associated with RAB33B include Smith-Mccort Dysplasia 2 and Smith-Mccort Dysplasia 1. Among its related pathways are Vesicle-mediated transport and TBC/RABGAPs. Gene Ontology (GO) annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is RAB33A.

UniProtKB/Swiss-Prot Summary for RAB33B Gene

  • Protein transport. Acts, in coordination with RAB6A, to regulate intra-Golgi retrograde trafficking. It is involved in autophagy, acting as a modulator of autophagosome formation.

Gene Wiki entry for RAB33B Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RAB33B Gene

Genomics for RAB33B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RAB33B Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J139451 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 271.4 +1.2 1152 5.2 BCLAF1 ZNF207 NCOR1 MYC IKZF1 ZNF600 ZNF592 POLR2A CEBPA BRCA1 RAB33B HSALNG0037420 RAB33B-AS1 NDUFC1 MGARP H3P16 RF00017-3972 SETD7
GH04J139299 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 15.4 -151.7 -151731 4.6 BCLAF1 SP1 ZNF207 IKZF1 MYC JUND ZNF580 KLF9 POLR2A ATF3 NDUFC1 MGARP HSALNG0037415 NAA15 lnc-MGARP-1 RAB33B MAML3 ELF2 RNU6-1074P
GH04J139294 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 15.1 -157.6 -157628 2.4 BCLAF1 ZNF207 ZNF654 MYC ZNF600 ZNF580 ZNF592 POLR2A CEBPA NFIC NDUFC1 ELF2 RAB33B RNU6-1074P RNU6-1214P NAA15 lnc-MGARP-1 MGARP
GH04J139418 Enhancer 0.9 Ensembl ENCODE 34.8 -35.0 -34996 7.1 ATF3 CTCF REST TRIM22 FEZF1 GABPA FOXA2 RXRA RAD21 SMC3 RAB33B MGARP NDUFC1 lnc-NAA15-1 piR-46847-189 RAB33B-AS1 HSALNG0037420 NAA15
GH04J139278 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 13.9 -173.7 -173731 2.2 ZNF600 ZBTB10 SIN3A ZNF513 YY1 ZBTB48 ZNF189 ZBTB33 GLIS1 SP7 MGARP RAB33B MAML3 ELF2 NDUFC1 HSALNG0037413
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RAB33B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RAB33B

Top Transcription factor binding sites by QIAGEN in the RAB33B gene promoter:
  • E47
  • Egr-4
  • FOXD1
  • p53
  • Sp1
  • STAT1
  • STAT1alpha
  • STAT1beta
  • STAT3
  • ZID

Genomic Locations for RAB33B Gene

Latest Assembly
chr4:139,453,232-139,476,609
(GRCh38/hg38)
Size:
23,378 bases
Orientation:
Plus strand

Previous Assembly
chr4:140,375,275-140,397,763
(GRCh37/hg19 by Entrez Gene)
Size:
22,489 bases
Orientation:
Plus strand

chr4:140,374,386-140,397,763
(GRCh37/hg19 by Ensembl)
Size:
23,378 bases
Orientation:
Plus strand

Genomic View for RAB33B Gene

Genes around RAB33B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAB33B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAB33B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAB33B Gene

Proteins for RAB33B Gene

  • Protein details for RAB33B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H082-RB33B_HUMAN
    Recommended name:
    Ras-related protein Rab-33B
    Protein Accession:
    Q9H082
    Secondary Accessions:
    • B2R987
    • Q4W5B0

    Protein attributes for RAB33B Gene

    Size:
    229 amino acids
    Molecular mass:
    25718 Da
    Quaternary structure:
    • Interacts with ATG16L1 (PubMed:21808068). Interaction with ATG16L1 is important for autophagosome formation (By similarity). Interacts with ATG16L2; however interaction is approximately hundred times lower than for ATG16L1 (By similarity). Interacts with RIC1 (via C-terminus domain); the interaction is direct with a preference for RAB33B-GTP (PubMed:23091056). Interacts with RGP1 (PubMed:23091056).

    Three dimensional structures from OCA and Proteopedia for RAB33B Gene

neXtProt entry for RAB33B Gene

Post-translational modifications for RAB33B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RAB33B Gene

Antibodies for research

  • Abcam antibodies for RAB33B
  • Boster Bio Antibodies for RAB33B

No data available for DME Specific Peptides for RAB33B Gene

Domains & Families for RAB33B Gene

Gene Families for RAB33B Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for RAB33B Gene

InterPro:
Blocks:
  • Transforming protein P21 RAS signature

Suggested Antigen Peptide Sequences for RAB33B Gene

GenScript: Design optimal peptide antigens:
  • RAB33B, member RAS oncogene family (Q5U602_HUMAN)
  • Ras-related protein Rab-33B (RB33B_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H082

UniProtKB/Swiss-Prot:

RB33B_HUMAN :
  • Belongs to the small GTPase superfamily. Rab family.
Family:
  • Belongs to the small GTPase superfamily. Rab family.
genes like me logo Genes that share domains with RAB33B: view

Function for RAB33B Gene

Molecular function for RAB33B Gene

UniProtKB/Swiss-Prot Function:
Protein transport. Acts, in coordination with RAB6A, to regulate intra-Golgi retrograde trafficking. It is involved in autophagy, acting as a modulator of autophagosome formation.
UniProtKB/Swiss-Prot EnzymeRegulation:
Regulated by a guanine nucleotide-exchange factor (GEF) and a GTPase-activating protein (GAP) and alternates between an inactive GDP-bound and an active GTP-bound form. In vitro, SGSM2 acts as its GAP and inactivates it by stimulating its GTPase activity.

Phenotypes From GWAS Catalog for RAB33B Gene

Gene Ontology (GO) - Molecular Function for RAB33B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003924 GTPase activity IMP 21808068
GO:0005515 protein binding IPI 21808068
GO:0005525 GTP binding IEA --
genes like me logo Genes that share ontologies with RAB33B: view
genes like me logo Genes that share phenotypes with RAB33B: view

Human Phenotype Ontology for RAB33B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

miRNA for RAB33B Gene

miRTarBase miRNAs that target RAB33B

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAB33B

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for RAB33B Gene

Localization for RAB33B Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAB33B Gene

Golgi apparatus membrane. Lipid-anchor. Golgi apparatus, cis-Golgi network. Note=Under starvation conditions punctate RAB33B-positive structures are often observed in the cytoplasm. {ECO:0000250 UniProtKB:O35963}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RAB33B gene
Compartment Confidence
golgi apparatus 5
endosome 4
cytosol 3
cytoskeleton 2
lysosome 2
plasma membrane 1
extracellular 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for RAB33B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005768 endosome IBA 21873635
GO:0005794 Golgi apparatus IBA,IDA 23042644
GO:0005796 Golgi lumen IDA 18448665
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with RAB33B: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RAB33B Gene

Pathways & Interactions for RAB33B Gene

genes like me logo Genes that share pathways with RAB33B: view

Pathways by source for RAB33B Gene

1 Qiagen pathway for RAB33B Gene
  • Epithelial Tight Junctions

SIGNOR curated interactions for RAB33B Gene

Activates:

Gene Ontology (GO) - Biological Process for RAB33B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000045 autophagosome assembly IEA --
GO:0001558 NOT regulation of cell growth IMP 20163571
GO:0006891 intra-Golgi vesicle-mediated transport IMP 20163571
GO:0006914 autophagy IEA --
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with RAB33B: view

Drugs & Compounds for RAB33B Gene

No Compound Related Data Available

Transcripts for RAB33B Gene

mRNA/cDNA for RAB33B Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAB33B

Alternative Splicing Database (ASD) splice patterns (SP) for RAB33B Gene

No ASD Table

Relevant External Links for RAB33B Gene

GeneLoc Exon Structure for
RAB33B

Expression for RAB33B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RAB33B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RAB33B Gene

This gene is overexpressed in Peripheral blood mononuclear cells (11.2), Liver (9.2), Uterus (8.3), and Retina (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RAB33B Gene



Protein tissue co-expression partners for RAB33B Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RAB33B

SOURCE GeneReport for Unigene cluster for RAB33B Gene:

Hs.591679

Evidence on tissue expression from TISSUES for RAB33B Gene

  • Nervous system(4.5)
  • Liver(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RAB33B Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • face
  • forehead
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
Thorax:
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
Limb:
  • arm
  • digit
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with RAB33B: view

Primer products for research

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for RAB33B Gene

Orthologs for RAB33B Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for RAB33B Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RAB33B 29 30
  • 99.85 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia RAB33B 30
  • 94 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia RAB33B 29 30
  • 93.76 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RAB33B 29 30
  • 92.72 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia RAB33B 30
  • 91 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Rab33b 29 16 30
  • 87.48 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rab33b 29
  • 87.48 (n)
Chicken
(Gallus gallus)
Aves RAB33B 29 30
  • 83.99 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RAB33B 30
  • 90 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rab33b 29
  • 75.21 (n)
Str.6559 29
Zebrafish
(Danio rerio)
Actinopterygii LOC572060 29
  • 71.33 (n)
rab33ba 30
  • 69 (a)
OneToOne
Dr.11130 29
Fruit Fly
(Drosophila melanogaster)
Insecta Rab9D 30
  • 31 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea rab-33 29 30
  • 58.24 (n)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SEC4 30
  • 34 (a)
OneToMany
YPT11 32
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.8759 30
  • 61 (a)
OneToMany
Species where no ortholog for RAB33B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for RAB33B Gene

ENSEMBL:
Gene Tree for RAB33B (if available)
TreeFam:
Gene Tree for RAB33B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RAB33B: view image
Alliance of Genome Resources:
Additional Orthologs for RAB33B

Paralogs for RAB33B Gene

genes like me logo Genes that share paralogs with RAB33B: view

Variants for RAB33B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RAB33B Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
1032923 Pathogenic: Smith-McCort dysplasia 2 139,473,068(+) CT/C
NM_031296.3(RAB33B):c.633del (p.Asp212fs)
FRAMESHIFT
1048093 Pathogenic: Smith-McCort dysplasia 2 139,472,836(+) C/T
NM_031296.3(RAB33B):c.400C>T (p.Gln134Ter)
NONSENSE
900305 Uncertain Significance: Smith-McCort dysplasia 2 139,473,551(+) T/C
NM_031296.3(RAB33B):c.*425T>C
THREE_PRIME_UTR
900306 Likely Benign: Smith-McCort dysplasia 2 139,473,639(+) C/T
NM_031296.3(RAB33B):c.*513C>T
THREE_PRIME_UTR
900307 Likely Benign: Smith-McCort dysplasia 2 139,473,702(+) T/C
NM_031296.3(RAB33B):c.*576T>C
THREE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for RAB33B Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for RAB33B Gene

Variant ID Type Subtype PubMed ID
nsv1023892 CNV gain 25217958
nsv830084 CNV loss 17160897
nsv830085 CNV loss 17160897

Variation tolerance for RAB33B Gene

Residual Variation Intolerance Score: 59.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.71; 15.04% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RAB33B Gene

Human Gene Mutation Database (HGMD)
RAB33B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAB33B
Leiden Open Variation Database (LOVD)
RAB33B

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAB33B Gene

Disorders for RAB33B Gene

MalaCards: The human disease database

(5) MalaCards diseases for RAB33B Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
smith-mccort dysplasia 2
  • smc2
smith-mccort dysplasia 1
  • smc1
dyggve-melchior-clausen disease
  • dmc
warburg micro syndrome
  • micro syndrome
legionnaire disease
  • legionnaire disease, susceptibility to
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

RB33B_HUMAN
  • Smith-McCort dysplasia 2 (SMC2) [MIM:615222]: A rare autosomal recessive osteochondrodysplasia with skeletal features identical to those of Dyggve-Melchior-Clausen syndrome, but with normal intelligence and no microcephaly. It is characterized by short limbs and trunk with barrel-shaped chest. The radiographic phenotype includes platyspondyly, generalized abnormalities of the epiphyses and metaphyses, and a distinctive lacy appearance of the iliac crest. {ECO:0000269 PubMed:22652534, ECO:0000269 PubMed:23042644}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for RAB33B

genes like me logo Genes that share disorders with RAB33B: view

No data available for Genatlas for RAB33B Gene

Publications for RAB33B Gene

  1. Mutation in RAB33B, which encodes a regulator of retrograde Golgi transport, defines a second Dyggve--Melchior--Clausen locus. (PMID: 22652534) Alshammari MJ … Alkuraya FS (Journal of medical genetics 2012) 3 4 72
  2. A novel RAB33B mutation in Smith-McCort dysplasia. (PMID: 23042644) Dupuis N … El Ghouzzi V (Human mutation 2013) 3 4
  3. Ric1-Rgp1 complex is a guanine nucleotide exchange factor for the late Golgi Rab6A GTPase and an effector of the medial Golgi Rab33B GTPase. (PMID: 23091056) Pusapati GV … Pfeffer SR (The Journal of biological chemistry 2012) 3 4
  4. RUTBC1 protein, a Rab9A effector that activates GTP hydrolysis by Rab32 and Rab33B proteins. (PMID: 21808068) Nottingham RM … Pfeffer SR (The Journal of biological chemistry 2011) 3 4
  5. Rab33b and Rab6 are functionally overlapping regulators of Golgi homeostasis and trafficking. (PMID: 20163571) Starr T … Storrie B (Traffic (Copenhagen, Denmark) 2010) 3 4

Products for RAB33B Gene

Sources for RAB33B Gene