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

Gene ID: 27314, updated on 10-Dec-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, Dec 2024]
Expression
Ubiquitous expression in brain (RPKM 7.4), lymph node (RPKM 5.8) and 24 other tissues See more
Orthologs
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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: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 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)

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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