Human Gene RAB33B (ENST00000652268.1) Description and Page Index
  Description: RAB33B, member RAS oncogene family (from HGNC RAB33B)
RefSeq Summary (NM_031296): 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]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660803.249893.1, SRR1803614.60934.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000305626.6/ ENSP00000306496.5 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END##
Gencode Transcript: ENST00000652268.1
Gencode Gene: ENSG00000172007.7
Transcript (Including UTRs)
   Position: hg38 chr4:139,453,423-139,475,870 Size: 22,448 Total Exon Count: 3 Strand: +
Coding Region
   Position: hg38 chr4:139,453,573-139,473,126 Size: 19,554 Coding Exon Count: 3 

Page IndexSequence and LinksMalaCardsCTDRNA-Seq ExpressionMicroarray Expression
RNA StructureOther SpeciesmRNA DescriptionsOther NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:139,453,423-139,475,870)mRNA (may differ from genome)Protein (277 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblExonPrimerGeneCardsHGNC
LynxMGIPubMedStanford SOURCEUniProtKBWikipedia

-  MalaCards Disease Associations
  MalaCards Gene Search: RAB33B
Diseases sorted by gene-association score: smith-mccort dysplasia 2* (1341), smith-mccort dysplasia* (290), osteochondrodysplasia (8)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 5.34 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 132.68 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -66.20150-0.441 Picture PostScript Text
3' UTR -615.702744-0.224 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologGenome BrowserNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl WormBase 
Protein SequenceProtein Sequence  Protein Sequence 
AlignmentAlignment  Alignment 

-  Descriptions from all associated GenBank mRNAs
  AL136904 - Homo sapiens mRNA; cDNA DKFZp434G099 (from clone DKFZp434G099).
AF350420 - Homo sapiens RAB33B mRNA, complete cds.
AK313685 - Homo sapiens cDNA, FLJ94274, Homo sapiens RAB33B, member RAS oncogene family (RAB33B), mRNA.
BC111977 - Homo sapiens RAB33B, member RAS oncogene family, mRNA (cDNA clone MGC:138182 IMAGE:8327445), complete cds.
BC036064 - Homo sapiens RAB33B, member RAS oncogene family, mRNA (cDNA clone MGC:33684 IMAGE:5288066), complete cds.
KJ899703 - Synthetic construct Homo sapiens clone ccsbBroadEn_09097 RAB33B gene, encodes complete protein.
JD487904 - Sequence 468928 from Patent EP1572962.
JD433314 - Sequence 414338 from Patent EP1572962.
JD281021 - Sequence 262045 from Patent EP1572962.
JD295769 - Sequence 276793 from Patent EP1572962.
JD176360 - Sequence 157384 from Patent EP1572962.
JD182148 - Sequence 163172 from Patent EP1572962.
JD530862 - Sequence 511886 from Patent EP1572962.
JD331006 - Sequence 312030 from Patent EP1572962.
JD547037 - Sequence 528061 from Patent EP1572962.
JD518537 - Sequence 499561 from Patent EP1572962.
JD466150 - Sequence 447174 from Patent EP1572962.
JD140653 - Sequence 121677 from Patent EP1572962.
JD285556 - Sequence 266580 from Patent EP1572962.
JD239431 - Sequence 220455 from Patent EP1572962.
JD074141 - Sequence 55165 from Patent EP1572962.
JD482393 - Sequence 463417 from Patent EP1572962.
JD488183 - Sequence 469207 from Patent EP1572962.
JD346648 - Sequence 327672 from Patent EP1572962.
JD356716 - Sequence 337740 from Patent EP1572962.
JD496171 - Sequence 477195 from Patent EP1572962.
JD304945 - Sequence 285969 from Patent EP1572962.
JD036457 - Sequence 17481 from Patent EP1572962.
JD092401 - Sequence 73425 from Patent EP1572962.
JD545670 - Sequence 526694 from Patent EP1572962.
JD304520 - Sequence 285544 from Patent EP1572962.
JD524052 - Sequence 505076 from Patent EP1572962.
JD562305 - Sequence 543329 from Patent EP1572962.
JD215738 - Sequence 196762 from Patent EP1572962.
JD280120 - Sequence 261144 from Patent EP1572962.
JD049996 - Sequence 31020 from Patent EP1572962.
JD350441 - Sequence 331465 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A0A494C0Z5, BC036064, uc287iot.1
UCSC ID: uc287iot.1
RefSeq Accession: NM_031296

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.