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

    Gene ID: 83452, updated on 2-May-2024

    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; AllianceGenome:HGNC:16075
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See RAB33B in Genome Data Viewer
    Location:
    4q31.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (139438376..139476609)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (142758027..142796260)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (140375275..140397763)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene glucose-fructose oxidoreductase domain containing 2 pseudogene Neighboring gene small nucleolar RNA ACA64 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21924 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15700 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21925 Neighboring gene RAB33B antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15701 Neighboring gene Sharpr-MPRA regulatory region 15265 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15702 Neighboring gene SET domain containing 7, histone lysine methyltransferase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21926 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:140469419-140469605 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr4:140472251-140472751 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15703 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15704 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15705 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15706 Neighboring gene ferritin heavy chain 1 pseudogene 24 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21927 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

    Clone Names

    • MGC138182, DKFZp434G099

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTP binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables GTPase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in Golgi lumen IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
     
    is_active_in endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in presynapse IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    ras-related protein Rab-33B

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      B2R987, Q4W5B0, Q9H082
      UniProtKB/TrEMBL
      Q5U602
      Related
      ENSP00000306496.5, ENST00000305626.6
      Conserved Domains (1) summary
      cd04115
      Location:32201
      Rab33B_Rab33A; Rab GTPase family 33 includes Rab33A and Rab33B

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      139438376..139476609
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011532299.2XP_011530601.1  ras-related protein Rab-33B isoform X1

      UniProtKB/TrEMBL
      A0A494C0Z5, Q5U602
      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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      142758027..142796260
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054350952.1XP_054206927.1  ras-related protein Rab-33B isoform X1

      UniProtKB/TrEMBL
      A0A494C0Z5