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

Gene ID: 285282, updated on 7-Apr-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, Apr 2022]
Expression
Ubiquitous expression in thyroid (RPKM 12.2), adrenal (RPKM 10.9) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
3q13.33
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (120684938..120742680, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (123404816..123462558, complement)
105.20220307 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
  • 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. 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
  3. Low-frequency of RABL3 pathogenetic variants in hereditary and familial pancreatic cancer. Puzzono M, et al. Dig Liver Dis, 2021 Apr. PMID 33353859
  4. The overexpression of Rabl3 is associated with pathogenesis and clinicopathologic variables in hepatocellular carcinoma. Pan Y, et al. Tumour Biol, 2017 Apr. PMID 28443498
  5. High Expression of Rab-like 3 (Rabl3) is Associated with Poor Survival of Patients with Non-Small Cell Lung Cancer via Repression of MAPK8/9/10-Mediated Autophagy. Zhang W, et al. Med Sci Monit, 2016 May 10. PMID 27164297, Free PMC Article

See all (60) 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
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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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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_2023_10

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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