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    RAB30 RAB30, member RAS oncogene family [ Homo sapiens (human) ]

    Gene ID: 27314, updated on 2-Nov-2024

    Summary

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    Official Symbol
    RAB30provided by HGNC
    Official Full Name
    RAB30, member RAS oncogene familyprovided by HGNC
    Primary source
    HGNC:HGNC:9770
    See related
    Ensembl:ENSG00000137502 MIM:605693; AllianceGenome:HGNC:9770
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to enable GTP binding activity and GTPase activity. Involved in Golgi organization. Located in Golgi cisterna; cis-Golgi network; and trans-Golgi network. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in brain (RPKM 7.4), lymph node (RPKM 5.8) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RAB30 in Genome Data Viewer
    Location:
    11q14.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (82973133..83071897, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (82909596..83008355, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (82684175..82782939, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902602 Neighboring gene DNA damage induced apoptosis suppressor Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3818 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5337 Neighboring gene ribosomal protein L7a pseudogene 54 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5338 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5339 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5340 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5341 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:82756306-82756860 Neighboring gene small nucleolar RNA, H/ACA box 70E Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5342 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5343 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5344 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5345 Neighboring gene long intergenic non-protein coding RNA 2951 Neighboring gene RAB30 divergent transcript Neighboring gene cytochrome c oxidase subunit 5B pseudogene 4

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. A role for Rab30 in retrograde trafficking and maintenance of endosome-TGN organization. Zulkefli KL, et al. Exp Cell Res, 2021 Feb 15. PMID 33359467
    2. RAB30 regulates PI4KB (phosphatidylinositol 4-kinase beta)-dependent autophagy against group A Streptococcus. Nakajima K, et al. Autophagy, 2019 Mar. PMID 30290718, Free PMC Article
    3. Molecular cloning of two novel rab genes from human melanocytes. Chen D, et al. Gene, 1996 Sep 26. PMID 8863739
    4. Rab30 is required for the morphological integrity of the Golgi apparatus. Kelly EE, et al. Biol Cell, 2012 Feb. PMID 22188167
    5. Toxoplasma gondii salvages sphingolipids from the host Golgi through the rerouting of selected Rab vesicles to the parasitophorous vacuole. Romano JD, et al. Mol Biol Cell, 2013 Jun. PMID 23615442, Free PMC Article

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A role for Rab30 in retrograde trafficking and maintenance of endosome-TGN organization.
      Title: A role for Rab30 in retrograde trafficking and maintenance of endosome-TGN organization.
    2. The results demonstrate a novel autophagosomal formation mechanism involving coordinative functions of RAB30 and PI4KB distinct from those utilized in canonical autophagy.
      Title: RAB30 regulates PI4KB (phosphatidylinositol 4-kinase beta)-dependent autophagy against group A Streptococcus.
    3. Data indicate taht the parasitophorous vacuole (PV), marked with Rab14, Rab30, or Rab43, colocalize with host-derived sphingolipids in the vacuolar space.
      Title: Toxoplasma gondii salvages sphingolipids from the host Golgi through the rerouting of selected Rab vesicles to the parasitophorous vacuole.
    4. Rab30 is primarily expressed in the Golgi apparatus and is required for the structural integrity of this organelle.
      Title: Rab30 is required for the morphological integrity of the Golgi apparatus.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.
    EBI GWAS Catalog
    The genetic architecture of economic and political preferences.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ34866

    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in Golgi organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in Rab protein signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in vesicle-mediated transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in Golgi cisterna IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi cisterna IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in Golgi stack TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in cis-Golgi network IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in trans-Golgi network IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in trans-Golgi network IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    ras-related protein Rab-30

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001286059.2 → NP_001272988.1  ras-related protein Rab-30

      See identical proteins and their annotated locations for NP_001272988.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2, 3, and 4 encode the same protein.
      Source sequence(s)
      AK291376, AP000893
      Consensus CDS
      CCDS8264.1
      UniProtKB/Swiss-Prot
      Q15771, Q6FGK1, Q6MZH2, Q96CI8
      UniProtKB/TrEMBL
      A8K5R1, E9PMJ1
      Related
      ENSP00000260056.2, ENST00000260056.6
      Conserved Domains (1) summary
      cd04114
      Location:3 → 171
      Rab30; Rab GTPase family 30 (Rab30)

    2. NM_001286060.2 → NP_001272989.1  ras-related protein Rab-30

      See identical proteins and their annotated locations for NP_001272989.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 3, and 4 encode the same protein.
      Source sequence(s)
      AK312323, AP000893, DB151524
      Consensus CDS
      CCDS8264.1
      UniProtKB/Swiss-Prot
      Q15771, Q6FGK1, Q6MZH2, Q96CI8
      UniProtKB/TrEMBL
      A8K5R1, E9PMJ1
      Related
      ENSP00000435089.1, ENST00000527633.6
      Conserved Domains (1) summary
      cd04114
      Location:3 → 171
      Rab30; Rab GTPase family 30 (Rab30)

    3. NM_001286061.1 → NP_001272990.1  ras-related protein Rab-30

      See identical proteins and their annotated locations for NP_001272990.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 3, and 4 encode the same protein.
      Source sequence(s)
      AP000893, BP336371
      Consensus CDS
      CCDS8264.1
      UniProtKB/Swiss-Prot
      Q15771, Q6FGK1, Q6MZH2, Q96CI8
      UniProtKB/TrEMBL
      A8K5R1, E9PMJ1
      Related
      ENSP00000478702.1, ENST00000612684.4
      Conserved Domains (1) summary
      cd04114
      Location:3 → 171
      Rab30; Rab GTPase family 30 (Rab30)

    4. NM_014488.5 → NP_055303.2  ras-related protein Rab-30

      See identical proteins and their annotated locations for NP_055303.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 3, and 4 encode the same protein.
      Source sequence(s)
      AP000893, BC014213, DB151524
      Consensus CDS
      CCDS8264.1
      UniProtKB/Swiss-Prot
      Q15771, Q6FGK1, Q6MZH2, Q96CI8
      UniProtKB/TrEMBL
      A8K5R1, E9PMJ1
      Related
      ENSP00000435189.1, ENST00000533486.5
      Conserved Domains (1) summary
      cd04114
      Location:3 → 171
      Rab30; Rab GTPase family 30 (Rab30)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      82973133..83071897 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      82909596..83008355 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q15771.2 GenPept UniProtKB/Swiss-Prot:Q15771

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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