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    RABL3 RAB, member of RAS oncogene family like 3 [ Homo sapiens (human) ]

    Gene ID: 285282, updated on 3-Nov-2024

    Summary

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    Official Symbol
    RABL3provided by HGNC
    Official Full Name
    RAB, member of RAS oncogene family like 3provided by HGNC
    Primary source
    HGNC:HGNC:18072
    See related
    Ensembl:ENSG00000144840 MIM:618542; AllianceGenome:HGNC:18072
    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
    Also known as
    PNCA5
    Summary
    Predicted to enable GTP binding activity; GTPase activity; and protein homodimerization activity. Involved in regulation of Ras protein signal transduction and regulation of protein lipidation. Predicted to be active in endomembrane system. Implicated in pancreatic cancer. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 12.2), adrenal (RPKM 10.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RABL3 in Genome Data Viewer
    Location:
    3q13.33
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (120684938..120742680, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (123404816..123462558, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (120403785..120461527, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20334 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20335 Neighboring gene NADH:ubiquinone oxidoreductase subunit B4 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:120360644-120361843 Neighboring gene homogentisate 1,2-dioxygenase Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:120395854-120396804 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:120438328-120438887 Neighboring gene MT-CO1 pseudogene 29 Neighboring gene MT-CO2 pseudogene 29 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:120461263-120461901 Neighboring gene general transcription factor IIE subunit 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20339 Neighboring gene Sharpr-MPRA regulatory region 15271 Neighboring gene nucleosome assembly protein 1 like 1 pseudogene 3

    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. Germline sequence analysis of RABL3 in a large series of pancreatic ductal adenocarcinoma patients reveals no evidence of deleterious variants. Roberts NJ, et al. Genes Chromosomes Cancer, 2021 Aug. PMID 33724601, Free PMC Article
    2. The overexpression of Rabl3 is associated with pathogenesis and clinicopathologic variables in hepatocellular carcinoma. Pan Y, et al. Tumour Biol, 2017 Apr. PMID 28443498
    3. Knockdown of RABL3 suppresses the proliferation and invasion of oral squamous cell carcinoma through inactivating the FAK/AKT pathway. Xu Z, et al. J Bioenerg Biomembr, 2021 Apr. PMID 33438143
    4. Low-frequency of RABL3 pathogenetic variants in hereditary and familial pancreatic cancer. Puzzono M, et al. Dig Liver Dis, 2021 Apr. PMID 33353859
    5. Evaluation of the novel gene Rabl3 in the regulation of proliferation and motility in human cancer cells. Li Q, et al. Oncol Rep, 2010 Aug. PMID 20596630

    See all (72) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Germline sequence analysis of RABL3 in a large series of pancreatic ductal adenocarcinoma patients reveals no evidence of deleterious variants.
      Title: Germline sequence analysis of RABL3 in a large series of pancreatic ductal adenocarcinoma patients reveals no evidence of deleterious variants.
    2. Knockdown of RABL3 suppresses the proliferation and invasion of oral squamous cell carcinoma through inactivating the FAK/AKT pathway.
      Title: Knockdown of RABL3 suppresses the proliferation and invasion of oral squamous cell carcinoma through inactivating the FAK/AKT pathway.
    3. circCOL1A1 Promotes the Progression of Gastric Cancer Cells through Sponging miR-145 to Enhance RABL3 Expression.
      Title: circCOL1A1 Promotes the Progression of Gastric Cancer Cells through Sponging miR-145 to Enhance RABL3 Expression.
    4. Low-frequency of RABL3 pathogenetic variants in hereditary and familial pancreatic cancer.
      Title: Low-frequency of RABL3 pathogenetic variants in hereditary and familial pancreatic cancer.
    5. Long non-coding RNA LINC00858 promotes cells proliferation and invasion through the miR-153-3p/Rabl3 axis in hepatocellular carcinoma.
      Title: Long non-coding RNA LINC00858 promotes cells proliferation and invasion through the miR-153-3p/Rabl3 axis in hepatocellular carcinoma.
    6. Identification of GIMAP7 and Rabl3 as Putative Biomarkers for Oral Squamous Cell Carcinoma Through Comparative Proteomic Approach.
      Title: Identification of GIMAP7 and Rabl3 as Putative Biomarkers for Oral Squamous Cell Carcinoma Through Comparative Proteomic Approach.
    7. MiR-296-3p may affect the proliferation and migration of non-small cell lung cancer cells via regulating RABL3.
      Title: MiR-296-3p may affect the proliferation and migration of non-small cell lung cancer cells via regulating RABL3.
    8. Mutations in RABL3 alter KRAS prenylation and are associated with hereditary pancreatic cancer.
      Title: Mutations in RABL3 alter KRAS prenylation and are associated with hereditary pancreatic cancer.
    9. Hepatocellular carcinoma patients with positive expression for both Rabl3 and Cullin7 had a remarkably shorter survival time compared with patients with negative expression for both proteins.
      Title: Overexpression of Rabl3 and Cullin7 is associated with pathogenesis and poor prognosis in hepatocellular carcinoma.
    10. Our studies suggest that the Rabl3 is a valuable marker of hepatocellular carcinoma progression and that the overexpression of Rabl3 plays an important role in the development and pathogenesis of hepatocellular carcinoma.
      Title: The overexpression of Rabl3 is associated with pathogenesis and clinicopathologic variables in hepatocellular carcinoma.
    Submit: New GeneRIF Correction See all GeneRIFs (12)

    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

    Associated conditions

    Description Tests
    Pancreatic cancer, susceptibility to, 5
    MedGen: C5231459 OMIM: 618680 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC23920

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTP binding ISS
    Inferred from Sequence or Structural Similarity
    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 
    enables protein homodimerization activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in B cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in T cell differentiation in thymus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in intracellular protein transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in natural killer cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein stabilization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of Ras protein signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of protein lipidation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in endomembrane system IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    rab-like protein 3

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001363964.1 → NP_001350893.1  rab-like protein 3 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC117472, AC133474
      Consensus CDS
      CCDS87127.1
      UniProtKB/TrEMBL
      C9JXM3
      Related
      ENSP00000419986.1, ENST00000483733.1
      Conserved Domains (1) summary
      cd04102
      Location:7 → 186
      RabL3; Rab GTPase-like family 3 (Rab-like3)

    2. NM_001363965.1 → NP_001350894.1  rab-like protein 3 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC117472, AC133474
      Conserved Domains (1) summary
      cd04102
      Location:7 → 210
      RabL3; Rab GTPase-like family 3 (Rab-like3)

    3. NM_173825.5 → NP_776186.2  rab-like protein 3 isoform 2

      See identical proteins and their annotated locations for NP_776186.2

      Status: VALIDATED

      Source sequence(s)
      AC133474, BX647593
      Consensus CDS
      CCDS3001.1
      UniProtKB/Swiss-Prot
      Q5HYI8, Q8WUD3
      Related
      ENSP00000273375.4, ENST00000273375.8
      Conserved Domains (1) summary
      cd04102
      Location:7 → 210
      RabL3; Rab GTPase-like family 3 (Rab-like3)

    RNA

    1. NR_157022.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC117472, AC133474
      Related
      ENST00000648525.1

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      120684938..120742680 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      123404816..123462558 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5HYI8.1 GenPept UniProtKB/Swiss-Prot:Q5HYI8

    Gene LinkOut

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

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