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

Summary

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, Dec 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

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_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D8S2279 (e-PCR)
- UniSTS:473907

SHGC-68332 (e-PCR)
- UniSTS:170132

SHGC-146121 (e-PCR)
- UniSTS:175020

SHGC-77253 (e-PCR)
- UniSTS:64943

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)

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)
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)
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)