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RAB33B RAB33B, member RAS oncogene family [ Homo sapiens (human) ]

Gene ID: 83452, updated on 21-Jan-2020

Summary

Official Symbol
RAB33Bprovided by HGNC
Official Full Name
RAB33B, member RAS oncogene familyprovided by HGNC
Primary source
HGNC:HGNC:16075
See related
Ensembl:ENSG00000172007 MIM:605950
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SMC2
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]
Expression
Ubiquitous expression in fat (RPKM 5.5), ovary (RPKM 5.0) and 25 other tissues See more
Orthologs

Genomic context

See RAB33B in Genome Data Viewer
Location:
4q31.1
Exon count:
3
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (139453232..139476609)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (140374961..140397070)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377449 Neighboring gene glucose-fructose oxidoreductase domain containing 2 pseudogene Neighboring gene uncharacterized LOC107984036 Neighboring gene SET domain containing 7, histone lysine methyltransferase Neighboring gene ferritin heavy chain 1 pseudogene 24 Neighboring gene uncharacterized LOC105377451

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC138182, DKFZp434G099

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTP binding IEA
Inferred from Electronic Annotation
more info
 
GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GTPase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
Rab protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
autophagosome assembly IEA
Inferred from Electronic Annotation
more info
 
intra-Golgi vesicle-mediated transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
intracellular protein transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of constitutive secretory pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein localization to Golgi apparatus IGI
Inferred from Genetic Interaction
more info
PubMed 
protein localization to Golgi apparatus IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of Golgi organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
NOT regulation of cell growth IMP
Inferred from Mutant Phenotype
more info
PubMed 
NOT regulation of epithelial cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of retrograde vesicle-mediated transport, Golgi to ER IMP
Inferred from Mutant Phenotype
more info
PubMed 
skeletal system morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
Golgi lumen IDA
Inferred from Direct Assay
more info
PubMed 
Golgi membrane TAS
Traceable Author Statement
more info
 
presynapse IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
ras-related protein Rab-33B

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_051587.1 RefSeqGene

    Range
    5890..28378
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for NP_112586.1

    Status: REVIEWED

    Source sequence(s)
    AC114743, AF350420, AL136904
    Consensus CDS
    CCDS3747.1
    UniProtKB/Swiss-Prot
    Q9H082
    Related
    ENSP00000306496.5, ENST00000305626.6
    Conserved Domains (2) summary
    cd04115
    Location:32201
    Rab33B_Rab33A; Rab GTPase family 33 includes Rab33A and Rab33B
    smart00175
    Location:34200
    RAB; Rab subfamily of small GTPases

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    139453232..139476609
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011532299.1XP_011530601.1  ras-related protein Rab-33B isoform X1

    Related
    ENSP00000498778.1, ENST00000652268.1
    Conserved Domains (2) summary
    cd04115
    Location:80249
    Rab33B_Rab33A; Rab GTPase family 33 includes Rab33A and Rab33B
    smart00175
    Location:82248
    RAB; Rab subfamily of small GTPases
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