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Aliases for RAB33B Gene

Aliases for RAB33B Gene

  • RAB33B, Member RAS Oncogene Family 2 3 5
  • Ras-Related Protein Rab-33B 3
  • 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 Metabolism of proteins and Vesicle-mediated transport. 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 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

Additional gene information for RAB33B Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RAB33B Gene

Genomics for RAB33B Gene

GeneHancer (GH) Regulatory Elements for RAB33B Gene

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
GH04I139451 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 571.5 +1.0 1029 5 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF213 E2F8 RAB33B ENSG00000273247 LOC101927451 NDUFC1 MGARP H3F3AP6 GC04P139503
GH04I139299 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 15.4 -151.7 -151668 4.3 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 NDUFC1 NAA15 RAB33B MAML3 RNU6-1074P MGARP GC04P139295
GH04I139294 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 15.1 -157.5 -157477 2.1 HDGF SMAD1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 POLR2B NDUFC1 GC04P139295 RAB33B RNU6-1074P ELF2 RNU6-1214P NAA15
GH04I139418 Enhancer 0.8 Ensembl ENCODE 33.9 -33.7 -33740 2.3 RXRA JUN MAX REST NR2F2 GABPA POLR2A ATF3 MYC RAB33B GC04P139422 LOC105377449 LOC101927451 ENSG00000273247 NAA15
GH04I139278 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 13.9 -173.7 -173663 2 CTCF KLF1 ARNT SUZ12 ZSCAN4 SIN3A ZNF384 HIC1 ZNF335 GLIS2 MGARP RAB33B MAML3 ELF2 NDUFC1 RNU6-1074P GC04M139257
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RAB33B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RAB33B gene promoter:

Genomic Locations for RAB33B Gene

Genomic Locations for RAB33B Gene
chr4:139,453,232-139,476,609
(GRCh38/hg38)
Size:
23,378 bases
Orientation:
Plus strand
chr4:140,374,386-140,397,763
(GRCh37/hg19)

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 ATG16L (PubMed:21808068). Interaction with ATG16L is important for autophagosome formation (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).

neXtProt entry for RAB33B Gene

Post-translational modifications for RAB33B Gene

No Post-translational modifications

Other Protein References for RAB33B Gene

ENSEMBL proteins:
REFSEQ proteins:

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

Suggested Antigen Peptide Sequences for RAB33B Gene

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 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.
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.

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

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
extracellular 5
golgi apparatus 5
cytosol 3
cytoskeleton 1
nucleus 1
lysosome 1
endosome 1

Gene Ontology (GO) - Cellular Components for RAB33B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005794 Golgi apparatus IDA,IEA 23042644
GO:0005796 Golgi lumen IEA,IDA 18448665
GO:0016020 membrane IEA --
GO:0070062 extracellular exosome HDA,IDA 23376485
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

SIGNOR curated interactions for RAB33B Gene

Activates:

Gene Ontology (GO) - Biological Process for RAB33B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000042 protein targeting to Golgi IMP 20163571
GO:0000045 autophagosome assembly IEA --
GO:0001558 NOT regulation of cell growth IMP 20163571
GO:0006810 transport IEA --
GO:0006891 intra-Golgi vesicle-mediated transport IMP 20163571
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

Unigene Clusters for RAB33B Gene

RAB33B, member RAS oncogene family:
Representative Sequences:

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

No ASD Table

Relevant External Links for RAB33B Gene

GeneLoc Exon Structure for
RAB33B
ECgene alternative splicing isoforms for
RAB33B

Expression for RAB33B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for RAB33B Gene



Protein tissue co-expression partners for RAB33B Gene

NURSA nuclear receptor signaling pathways regulating expression of RAB33B Gene:

RAB33B

SOURCE GeneReport for Unigene cluster for RAB33B Gene:

Hs.591679

Evidence on tissue expression from TISSUES for RAB33B Gene

  • Nervous system(4.3)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
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

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 33 34
  • 99.85 (n)
oppossum
(Monodelphis domestica)
Mammalia RAB33B 34
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RAB33B 33 34
  • 93.76 (n)
cow
(Bos Taurus)
Mammalia RAB33B 33 34
  • 92.72 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RAB33B 34
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rab33b 33 16 34
  • 87.48 (n)
rat
(Rattus norvegicus)
Mammalia Rab33b 33
  • 87.48 (n)
chicken
(Gallus gallus)
Aves RAB33B 33 34
  • 83.99 (n)
lizard
(Anolis carolinensis)
Reptilia RAB33B 34
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rab33b 33
  • 75.21 (n)
Str.6559 33
zebrafish
(Danio rerio)
Actinopterygii LOC572060 33
  • 71.33 (n)
rab33ba 34
  • 69 (a)
OneToOne
Dr.11130 33
fruit fly
(Drosophila melanogaster)
Insecta Rab9D 34
  • 31 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea rab-33 33 34
  • 58.24 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SEC4 34
  • 34 (a)
OneToMany
YPT11 36
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8759 34
  • 61 (a)
OneToMany
Species where no ortholog for RAB33B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for RAB33B Gene

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

Variants for RAB33B Gene

Sequence variations from dbSNP and Humsavar for RAB33B Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs1000571591 uncertain-significance, Smith-McCort dysplasia 139,473,758(+) A/G 3_prime_UTR_variant
rs1029659339 uncertain-significance, Smith-McCort dysplasia 139,453,854(+) T/C 5_prime_UTR_variant, intron_variant
rs1048309755 uncertain-significance, Smith-McCort dysplasia 139,453,848(+) G/C 5_prime_UTR_variant, intron_variant
rs1051872267 uncertain-significance, Smith-McCort dysplasia 139,474,436(+) G/A 3_prime_UTR_variant
rs10604111 uncertain-significance, Smith-McCort dysplasia 139,473,903(+) TTTTTTTTTTTTTTTTTTTTT/TTTTTTTTTTTT/TTTTTTTTTTTTTT/TTTTTTTTTTTTTTTTTT/TTTTTTTTTTTTTTTTTTT/TTTTTTTTTTTTTTTTTTTT/TTTTTTTTTTTTTTTTTTTTTT 3_prime_UTR_variant

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

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

Disorders for RAB33B Gene

MalaCards: The human disease database

(3) MalaCards diseases for RAB33B Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
smith-mccort dysplasia 2
  • smc2
smith-mccort dysplasia 1
  • smc1
osteochondrodysplasia
  • cartilage development disorder
- 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 mutations 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. A novel RAB33B mutation in Smith-McCort dysplasia. (PMID: 23042644) Dupuis N … El Ghouzzi V (Human mutation 2013) 3 4 58
  2. 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 58
  3. 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 58
  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 58
  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 58

Products for RAB33B Gene

Sources for RAB33B Gene

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