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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

RAB33B Gene

protein-coding   GIFtS: 53
GCID: GC04P140374

RAB33B, member RAS oncogene family

 Explore 3 diseases affiliated with
RAB33B via our new
 Human Malady Compendium 
Biological research products
for RAB33B
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
RAB33B, Member RAS Oncogene Family1 2
DKFZP434G0991
Ras-Related Protein Rab-33B2

External Ids:    HGNC: 160751   Entrez Gene: 834522   Ensembl: ENSG000001720077   OMIM: 6059505   UniProtKB: Q9H0823   

Export aliases for RAB33B gene to outside databases

Previous GC identifers: GC04P141280 GC04P140674 GC04P140841 GC04P140952 GC04P140732 GC04P136104


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for RAB33B:
Small GTP-binding proteins of the RAB family, such as RAB33B, play important roles at defined steps of vesicular
transport in protein secretion and the endocytosis pathway (Zheng et al., 1998 (PubMed 9512502)).(supplied by OMIM,
Feb 2010)

UniProtKB/Swiss-Prot: RB33B_HUMAN, Q9H082
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 Wiki entry for RAB33B


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NC_018915.1  NT_016354.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RAB33B gene promoter:
         STAT1   Sp1   p53   FOXD1   STAT1beta   Egr-4   STAT1alpha   E47   STAT3   ZID   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): RAB33B promoter sequence
   Search SABiosciences Chromatin IP Primers for RAB33B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RAB33B


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4q28   Ensembl cytogenetic band:  4q31.1   HGNC cytogenetic band: 4q28

RAB33B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RAB33B gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P140374:  view genomic region     (about GC identifiers)

Start:
140,374,386 bp from pter      End:
140,397,763 bp from pter
Size:
23,378 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: RB33B_HUMAN, Q9H082 (See protein sequence)
Recommended Name: Ras-related protein Rab-33B  
Size: 229 amino acids; 25718 Da
Subunit: Interacts with ATG16L; the interaction is important for autophagosome formation (By similarity)
Subcellular location: Golgi apparatus membrane; Lipid-anchor (By similarity). Golgi apparatus, cis-Golgi network
Secondary accessions: B2R987 Q4W5B0

Explore the universe of human proteins at neXtProt for RAB33B: NX_Q9H082

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9H082

  • RAB33B Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_112586.1  
    ENSEMBL proteins: 
     ENSP00000306496  

    Human Recombinant Protein Products: 
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    Uscn Proteins for RAB33B

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IEA--
    GO:0005794Golgi apparatus IDA--
    GO:0005796Golgi lumen IDA18448665


    RAB33B for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for RAB33B


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    RAB33B for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR005225 Small_GTP-bd_dom
     IPR001806 Small_GTPase
     IPR003579 Small_GTPase_Rab_type

    Graphical View of Domain Structure for InterPro Entry Q9H082

    ProtoNet protein and cluster: Q9H082

    1 Blocks protein family: IPB001806 Transforming protein P21 RAS signature

    UniProtKB/Swiss-Prot: RB33B_HUMAN, Q9H082
    Similarity: Belongs to the small GTPase superfamily. Rab family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: RB33B_HUMAN, Q9H082
    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

    miRNA
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    hsa-miR-623 hsa-miR-520d-5p hsa-miR-128 hsa-miR-944 hsa-miR-340 hsa-miR-548l hsa-miR-9 hsa-miR-499-5p
    SwitchGear 3'UTR luciferase reporter plasmidRAB33B 3' UTR sequence
    Inhib. RNA
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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005525GTP binding IEA--


    RAB33B for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for RAB33B:
     Synthetic lethal with Ras 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Sertoli-Sertoli Cell Junction Dynamics
    Epithelial Tight Junctions0.36

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for RAB33B
        Epithelial Tight Junctions


    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for RAB33B

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/14 Interacting proteins for RAB33B (Q9H0823 ENSP000003064964) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ACVR1Q047713, ENSP000002636404I2D: score=3 STRING: ENSP00000263640
    GABARAPL1Q9H0R83, ENSP000002664584I2D: score=1 STRING: ENSP00000266458
    RABGEF1Q9UJ413, ENSP000002849574I2D: score=1 STRING: ENSP00000284957
    GOLGA2Q083793, ENSP000004160974I2D: score=2 STRING: ENSP00000416097
    RABEP1Q152763, ENSP000002624774I2D: score=2 STRING: ENSP00000262477
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006914autophagy IEA--
    GO:0007264small GTPase mediated signal transduction IEA--
    GO:0015031protein transport IEA--
    GO:2000156regulation of retrograde vesicle-mediated transport, Golgi to ER IMP--
    GO:2000785regulation of autophagic vacuole assembly ISS--


    RAB33B for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for RAB33B
    Search CenterWatch for drugs/clinical trials and news about RAB33B / RB33B 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for RAB33B gene: 
    NM_031296.1  

    Unigene Cluster for RAB33B:

    RAB33B, member RAS oncogene family
    Hs.591679  [show with all ESTs]
    Unigene Representative Sequence: AL136904
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000507271 ENST00000305626(uc003ihv.3)

    miRNA
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    hsa-miR-623 hsa-miR-520d-5p hsa-miR-128 hsa-miR-944 hsa-miR-340 hsa-miR-548l hsa-miR-9 hsa-miR-499-5p
    SwitchGear 3'UTR luciferase reporter plasmidRAB33B 3' UTR sequence
    Inhib. RNA
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    Additional cDNA sequence: 

    AF350420.1 AK313685.1 AL136904.1 BC036064.1 BC111977.1 

    3 DOTS entries:

    DT.97838286  DT.75100804  DT.70101003 

    24/50 AceView cDNA sequences (see all 50):

    Z36966 BM675710 CK823289 BM931688 AI889871 AL136904 CF994555 AU280090 
    AA577079 BQ723710 BM893637 NM_031296 BU754295 BM893798 T30461 BX505064 
    BF194896 CD655405 BC036064 CK823290 BM967095 AI554525 D61789 BM966968 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    RAB33B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AAGTTCAATA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    RAB33B expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    PureStem™ progenitor E69 (Embryonic Progenitor Cell)
    PureStem™ progenitor T36 (Embryonic Progenitor Cell)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See RAB33B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RAB33B

    SOURCE GeneReport for Unigene cluster: Hs.591679
        SABiosciences Custom PCR Arrays for RAB33B
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RAB33B

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for RAB33B gene from 6/20 species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rab33b1 , 5 RAB33B, member of RAS oncogene family1, 5 87.48(n)1
    94.76(a)1
      3 (22.49 cM)5
    193381  NM_016858.21  NP_058554.11 
     514839665 
    chicken
    (Gallus gallus)
    Aves RAB33B1 RAB33B, member RAS oncogene family 82.23(n)
    92.51(a)
      422441  NM_001008466.1  NP_001008466.1 
    lizard
    (Anolis carolinensis)
    Reptilia RAB33B6
    --
    90(a)
    1 ↔ 1
    5(120263718-120268239)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC059345.12   -- 76.79(n)    BC059345.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.111302 Transcribed sequence with weak similarity to protein more 72.59(n)    BI883463.1 
    worm
    (Caenorhabditis elegans)
    Secernentea rab-331 Protein RAB-33 58.71(n)
    60.8(a)
      176470  NM_066913.2  NP_499314.1 


    ENSEMBL Gene Tree for RAB33B (if available)
    TreeFam Gene Tree for RAB33B (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RAB33B gene
    RAB33A2  
    18/83 SIMAP similar genes for RAB33B using alignment to 2 protein entries:     RB33B_HUMAN (see all proteins) (see all similar genes):
    RAB33A    DKFZp686J06205    DKFZp686J07132    RAB19    RAB30    RAB4B
    RANP1    RAB43    RAB8B    rab1b    RAB15    RAB10
    RAB4A    RAB8A    RAB11B    KRAS    RAB11A    RAB17

    RAB33B for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for RAB33B
         1 CNV: 4418
    Human Gene Mutation Database (HGMD): RAB33B
    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing RAB33B
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    RAB33B for disorders           About GeneDecksing

    OMIM gene information: 605950    OMIM disorders: --

    UniProtKB/Swiss-Prot: RB33B_HUMAN, Q9H082
  • Defects in RAB33B are a cause of Smith-McCort dysplasia (SMC) [MIM:607326]. A rare autosomal recessive
  • osteochondrodysplasia with skeletal features identical to those of Dyggve-Melchior-Clausen syndrome, but with normal
    intelligence and no microcephaly. SMC 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

    3 diseases for RAB33B:    About MalaCards
    transient cerebral ischemia    ischemia    cerebritis

    2 diseases from the University of Copenhagen DISEASES database for RAB33B:
    Sponastrime dysplasia     Spondyloepimetaphyseal dysplasia

    Export disorders for RAB33B gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for RAB33B gene, integrated from 9 sources (see all 19):
    (articles sorted by number of sources associating them with RAB33B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutation in RAB33B, which encodes a regulator of retrograde Golgi transport, defines a second Dyggve--Melchior--Clausen locus. (PubMed id 22652534)1, 2 Alshammari M.J.... Alkuraya F.S. (2012)
    2. Golgi-resident small GTPase Rab33B interacts with Atg16L and modulates autophagosome formation. (PubMed id 18448665)1, 2 Itoh T....Fukuda M. (2008)
    3. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W....Wilson R.K. (2005)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2 Wiemann S.... Poustka A. (2001)
    6. A novel RAB33B mutation in Smith-McCort dysplasia. (PubMed id 23042644)2 Dupuis N.... Ghouzzi V.E. (2013)
    7. Ric1-Rgp1 complex is a guanine nucleotide exchange fac tor for the late Golgi Rab6A GTPase and an effector of the medial Golgi Rab33B G TPase. (PubMed id 23091056)1 Pusapati G.V....Pfeffer S.R. (2012)
    8. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    9. Integrative analysis of the ubiquitin proteome isolat ed using Tandem Ubiquitin Binding Entities (TUBEs). (PubMed id 22178446)1 Lopitz-Otsoa F....Rodriguez M.S. (2011)
    10. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 83452 HGNC: 16075 AceView: RAB33B Ensembl:ENSG00000172007 euGenes: HUgn83452
    ECgene: RAB33B H-InvDB: RAB33B

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for RAB33B Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RAB33B Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for RAB33B gene:
    Search GeneIP for patents involving RAB33B

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    In Situ Hybridization Assays from
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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