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    RAB15 RAB15, member RAS oncogene family [ Homo sapiens (human) ]

    Gene ID: 376267, updated on 5-May-2024

    Summary

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    Official Symbol
    RAB15provided by HGNC
    Official Full Name
    RAB15, member RAS oncogene familyprovided by HGNC
    Primary source
    HGNC:HGNC:20150
    See related
    Ensembl:ENSG00000139998 MIM:619547; AllianceGenome:HGNC:20150
    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 positive regulation of regulated secretory pathway. Located in cilium; endosome membrane; and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in brain (RPKM 21.8), urinary bladder (RPKM 12.3) and 21 other tissues See more
    Orthologs
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    Genomic context

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    Location:
    14q23.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (64945816..64972336, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (59150685..59177205, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (65412534..65439054, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8538 Neighboring gene CHURC1-FNTB readthrough Neighboring gene MPRA-validated peak2167 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8539 Neighboring gene churchill domain containing 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:65421611-65422488 Neighboring gene glutathione peroxidase 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:65426829-65427347 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5845 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:65441391-65442168 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:65448241-65448742 Neighboring gene uncharacterized LOC107984655 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8540 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr14:65471811-65473010 Neighboring gene farnesyltransferase, CAAX box, subunit beta Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5846 Neighboring gene MYC associated factor X Neighboring gene microRNA 4706

    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. Rab15 alternative splicing is altered in spheres of neuroblastoma cells. Pham TV, et al. Oncol Rep, 2012 Jun. PMID 22427180
    2. Rab15 expression correlates with retinoic acid-induced differentiation of neuroblastoma cells. Nishimura N, et al. Oncol Rep, 2011 Jul. PMID 21491086
    3. Rab15 differentially regulates early endocytic trafficking. Zuk PA, et al. J Biol Chem, 2000 Sep 1. PMID 10837464
    4. Rab15 mediates an early endocytic event in Chinese hamster ovary cells. Zuk PA, et al. J Biol Chem, 1999 Aug 6. PMID 10428799
    5. Mammalian suppressor of Sec4 modulates the inhibitory effect of Rab15 during early endocytosis. Strick DJ, et al. J Biol Chem, 2002 Sep 6. PMID 12105226

    See all (44) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Ehrlichia chaffeensis Etf-3 Induces Host RAB15 Upregulation for Bacterial Intracellular Growth.
      Title: Ehrlichia chaffeensis Etf-3 Induces Host RAB15 Upregulation for Bacterial Intracellular Growth.
    2. identified 4 Rab15 isoforms, Rab15CN, Rab15AN1, Rab15AN2 and Rab15AN3 in neuroblastoma cells and demonstrated that Rab15 isoform balance was significantly decreased in spheres of neuroblastoma cells; study suggests Rab15 alternative splicing may serve as a biomarker to discriminate tumor-initiating cells (TICs) from non-TICs in neuroblastoma
      Title: Rab15 alternative splicing is altered in spheres of neuroblastoma cells.
    3. Rab15 expression correlates with retinoic acid-induced differentiation of neuroblastoma cells
      Title: Rab15 expression correlates with retinoic acid-induced differentiation of neuroblastoma cells.
    4. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    5. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    6. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China.
    7. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    8. Rab15 effector protein is a binding partner for Rab15-GTP.
      Title: Rab15 effector protein: a novel protein for receptor recycling from the endocytic recycling compartment.
    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

    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 IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in Rab protein signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in exocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of regulated secretory pathway IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in positive regulation of regulated secretory pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein secretion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cilium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in endosome membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endosome membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    ras-related protein Rab-15
    Names
    RAB15, member RAS onocogene 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.

    mRNA and Protein(s)

    1. NM_001308154.2 → NP_001295083.1  ras-related protein Rab-15 isoform 2

      See identical proteins and their annotated locations for NP_001295083.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site that results in a frameshift and novel 3' coding region compared to variant 1. It encodes isoform 2, which is longer than and has a novel C-terminus compared to isoform 1.
      Source sequence(s)
      AB678452, AB678453, AI096837, AL139022, BX248046
      Consensus CDS
      CCDS76691.1
      UniProtKB/Swiss-Prot
      G5EMR7, P59190, Q86TX7, Q8IW89
      UniProtKB/TrEMBL
      G3V196, G5EMR8
      Related
      ENSP00000434103.3, ENST00000533601.7
      Conserved Domains (1) summary
      cd04117
      Location:9 → 172
      Rab15; Rab GTPase family 15 (Rab15)

    2. NM_001330182.2 → NP_001317111.1  ras-related protein Rab-15 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) contains an alternate exon, and uses an alternate splice site, compared to isoform 1. These differences result in the use of a downtream start codon, and a frameshift and novel 3' coding region compared to variant 1. It encodes isoform 3, which has a shorter N-terminus, and a novel C-terminus, compared to isoform 1.
      Source sequence(s)
      AL139022, W81100
      Consensus CDS
      CCDS81812.1
      UniProtKB/TrEMBL
      G3V562
      Related
      ENSP00000452195.2, ENST00000554593.2
      Conserved Domains (1) summary
      cl21455
      Location:1 → 126
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    3. NM_198686.3 → NP_941959.1  ras-related protein Rab-15 isoform 1

      See identical proteins and their annotated locations for NP_941959.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript.
      Source sequence(s)
      AL139022, BC040679, BX248046, CN352234, W81100
      Consensus CDS
      CCDS9768.1
      UniProtKB/Swiss-Prot
      P59190
      Related
      ENSP00000267512.5, ENST00000267512.9
      Conserved Domains (1) summary
      cl38936
      Location:9 → 172
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      64945816..64972336 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024449577.2 → XP_024305345.1  ras-related protein Rab-15 isoform X1

      UniProtKB/TrEMBL
      A0A2R8Y7G7
      Related
      ENSP00000496006.1, ENST00000646728.1
      Conserved Domains (1) summary
      cl21455
      Location:1 → 126
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      59150685..59177205 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054376020.1 → XP_054231995.1  ras-related protein Rab-15 isoform X1

      UniProtKB/TrEMBL
      A0A2R8Y7G7
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P59190.1 GenPept UniProtKB/Swiss-Prot:P59190

    Gene LinkOut

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

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