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RAB41 RAB41, member RAS oncogene family [ Homo sapiens (human) ]

Gene ID: 347517, updated on 5-Mar-2024

Summary

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Official Symbol
RAB41provided by HGNC
Official Full Name
RAB41, member RAS oncogene familyprovided by HGNC
Primary source
HGNC:HGNC:18293
See related
Ensembl:ENSG00000147127 AllianceGenome:HGNC:18293
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
Summary
This gene encodes a small GTP-binding protein that belongs to the largest family within the Ras superfamily. These proteins function as regulators of membrane trafficking. They cycle between inactive GDP-bound and activated GTP-bound states, which is controlled by GTP hydrolysis-activating proteins (GAPs). This family member can be activated by the GAP protein RN-Tre, and it is localized to the Golgi complex. [provided by RefSeq, May 2010]
Expression
Low expression observed in reference dataset See more
Orthologs
all
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Genomic context

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Location:
Xq13.1
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (70282172..70285002)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (68715490..68718320)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (69502022..69504852)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 5483 Neighboring gene pyrimidinergic receptor P2Y4 Neighboring gene arrestin 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20889 Neighboring gene PDZ domain containing 11 Neighboring gene kinesin family member 4A Neighboring gene TRAPPC2L pseudogene 1

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
  • 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. Rab41 is a novel regulator of Golgi apparatus organization that is needed for ER-to-Golgi trafficking and cell growth. Liu S, et al. PLoS One, 2013. PMID 23936529, Free PMC Article
  2. Molecular mechanisms of Streptococcus pneumoniae-targeted autophagy via pneumolysin, Golgi-resident Rab41, and Nedd4-1-mediated K63-linked ubiquitination. Ogawa M, et al. Cell Microbiol, 2018 Aug. PMID 29582580
  3. A GTPase-activating protein controls Rab5 function in endocytic trafficking. Haas AK, et al. Nat Cell Biol, 2005 Sep. PMID 16086013
  4. Evolution of the Rab family of small GTP-binding proteins. Pereira-Leal JB, et al. J Mol Biol, 2001 Nov 2. PMID 11697911
  5. The functional landscape of Hsp27 reveals new cellular processes such as DNA repair and alternative splicing and proposes novel anticancer targets. Katsogiannou M, et al. Mol Cell Proteomics, 2014 Dec. PMID 25277244, Free PMC Article

See all (13) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Rab41-mediated ESCRT machinery repairs membrane rupture by a bacterial toxin in xenophagy.
    Title: Rab41-mediated ESCRT machinery repairs membrane rupture by a bacterial toxin in xenophagy.
  2. Streptococcus pneumoniae is entrapped by selective autophagy in pneumolysin- and ubiquitin-p62-LC3 cargo-dependent manners. Streptococcus pneumoniae-containing autophagic vesicles (PcAV) were formed only in the presence of Rab41-positive intact Golgi apparatuses. Nedd4-1 was recruited to PcAV which played a pivotal role in K63-linked polyubiquitin chain (K63Ub) generation on PcAV and elimination of intracellular bacteria.
    Title: Molecular mechanisms of Streptococcus pneumoniae-targeted autophagy via pneumolysin, Golgi-resident Rab41, and Nedd4-1-mediated K63-linked ubiquitination.
  3. distinctive Rab41 effects on Golgi organization, ER-to-Golgi trafficking and cell growth
    Title: Rab41 is a novel regulator of Golgi apparatus organization that is needed for ER-to-Golgi trafficking and cell growth.
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

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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTP binding IEA
Inferred from Electronic Annotation
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 intra-Golgi vesicle-mediated transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in intracellular protein transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in retrograde transport, endosome to Golgi IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in Golgi membrane TAS
Traceable Author Statement
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
is_active_in endomembrane system IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
ras-related protein Rab-41
Names
RAB41, member RAS homolog family

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.

Genomic

  1. NG_021267.1 RefSeqGene

    Range
    5001..7831
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001032726.3 → NP_001027898.2  ras-related protein Rab-41 isoform 1

    See identical proteins and their annotated locations for NP_001027898.2

    Status: REVIEWED

    Source sequence(s)
    AI126463, AL357752, BC117239
    Consensus CDS
    CCDS35322.2
    UniProtKB/Swiss-Prot
    Q5JT25
    Related
    ENSP00000276066.4, ENST00000276066.4
    Conserved Domains (1) summary
    cd01861
    Location:33 → 191
    Rab6; Rab GTPase family 6 (Rab6)

  2. NM_001363807.1 → NP_001350736.1  ras-related protein Rab-41 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL357752
    Consensus CDS
    CCDS87756.1
    UniProtKB/Swiss-Prot
    Q17RQ0, Q5JT25
    Related
    ENSP00000363597.2, ENST00000374473.6
    Conserved Domains (1) summary
    cd01861
    Location:33 → 192
    Rab6; Rab GTPase family 6 (Rab6)

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_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    70282172..70285002
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011530948.4 → XP_011529250.1  ras-related protein Rab-41 isoform X1

    Conserved Domains (2) summary
    smart00175
    Location:33 → 195
    RAB; Rab subfamily of small GTPases
    cd01861
    Location:33 → 192
    Rab6; Rab GTPase family 6 (Rab6)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    68715490..68718320
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054327002.1 → XP_054182977.1  ras-related protein Rab-41 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5JT25.2 GenPept UniProtKB/Swiss-Prot:Q5JT25

Gene LinkOut

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