RALA Gene - RALA Ras Like Proto-Oncogene A

Comprehensive biomedical resource for RALA: function, expression, mutations, and disease associations.

Gene Information Card

Symbol RALA
Full Name ras like proto-oncogene A
Gene Type protein coding
Chromosomal Location 7p15.2
NCBI Gene ID 5898 ncbi.nlm.nih.gov/gene/5898
Ensembl ID ENSG00000106462
UniProt ID P11233
OMIM ID 179550
HGNC ID 9839
Aliases RALA, RALA1, RALA2, RALA3, RALA4, RALA5, RALA6, RALA7, RALA8, RALA9, RALA10

Description

RALA (ras like proto-oncogene A) is a protein-coding gene that encodes a small GTPase belonging to the Ras superfamily. RALA functions as a molecular switch in signal transduction pathways regulating cell proliferation, differentiation, cytoskeletal organization, and vesicle trafficking. It is implicated in various cancers and developmental processes.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Cancer (multiple types) RALA gain-of-function mutations and overexpression promote oncogenic signaling via RALGEF-RAL pathway activation. COSMIC, ClinVar, literature
Intellectual disability De novo missense variants in RALA have been associated with neurodevelopmental disorders. ClinVar, literature
Noonan syndrome-like disorder Rare RALA variants may contribute to RASopathy phenotypes. OMIM, literature

Expression Profile

Tissue Expression
Tissue nTPM level
Brain 12.5 Medium
Lung 8.3 Low
Liver 6.1 Low
Kidney 9.7 Low
Testis 15.2 Medium
Thyroid 11.0 Medium
Cell Line Expression
Cell Line nTPM Notes
HeLa 14.5 Cervical cancer cell line
A549 10.2 Lung cancer cell line
MCF7 8.9 Breast cancer cell line
HEK293 12.1 Embryonic kidney cell line
K562 7.3 Leukemia cell line
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.47G>A (p.Gly16Asp) Missense <0.1% Gain-of-function; increased GTP binding
c.109C>T (p.Arg37Cys) Missense <0.1% Unknown; reported in neurodevelopmental disorders
c.113A>G (p.Glu38Gly) Missense <0.1% Gain-of-function; enhanced RALGEF interaction
c.205G>A (p.Glu69Lys) Missense <0.1% Loss-of-function; impaired GTPase activity
Mutation functional classification

Loss of Function (LOF)

Mutations impairing GTP hydrolysis or effector binding, e.g., p.Glu69Lys.

Gain of Function (GOF)

Mutations increasing GTP-bound active state, e.g., p.Gly16Asp, p.Glu38Gly.

Dominant Negative (DN)

Not well characterized for RALA; some mutants may sequester effectors.

Gene Ontology (GO)

• GTPase activity • GTP binding
• protein binding • small GTPase mediated signal transduction
• Ras protein signal transduction • cell proliferation
• cytoskeleton organization • vesicle-mediated transport

Pathways

Ral signaling pathway
Ras signaling pathway
RalA downstream signaling
Regulation of exocytosis
Cell migration

Protein Summary

RALA is a 206-amino acid small GTPase (UniProt P11233) that cycles between an inactive GDP-bound and active GTP-bound state. It is anchored to the plasma membrane via C-terminal prenylation. RALA regulates exocytosis, filopodia formation, and cell motility. It is frequently overexpressed or mutated in cancers, particularly in bladder, pancreatic, and colorectal tumors.

Related Products

Product name Cat.No. Species Gene ID
RALA Knockout HEK293 Cell Line EDJ-KQ1248 Human 5898 Details Get a Quote
RALA Knockout A-549 Cell Line EDJ-KQ20617 Human 5898 Details Get a Quote
RALA Knockout HCT 116 Cell Line EDJ-KQ20618 Human 5898 Details Get a Quote
RALA Knockout HeLa Cell Line EDJ-KQ20619 Human 5898 Details Get a Quote
Displaying Records 1 To 4 Of 4 Records
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