RALA

Protein identityUniProt · HPA

UniProt accession

P11233

Gene

RALA

Ensembl

ENSG00000006451

Chromosome

7

Canonical length

206 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, RAS pathway related proteins

Subcellular location

Plasma membrane,Focal adhesion sites

OverviewNCBI Gene

The product of this gene belongs to the small GTPase superfamily, Ras family of proteins. GTP-binding proteins mediate the transmembrane signaling initiated by the occupancy of certain cell surface receptors. This gene encodes a low molecular mass ras-like GTP-binding protein that shares about 50% similarity with other ras proteins. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

206 residues, UniProt reviewed canonical sequence.

>P11233|RALA
     1  MAANKPKGQN SLALHKVIMV GSGGVGKSAL TLQFMYDEFV EDYEPTKADS YRKKVVLDGE
    61  EVQIDILDTA GQEDYAAIRD NYFRSGEGFL CVFSITEMES FAATADFREQ ILRVKEDENV
   121  PFLLVGNKSD LEDKRQVSVE EAKNRAEQWN VNYVETSAKT RANVDKVFFD LMREIRARKM
   181  EDSKEKNGKK KRKSLAKRIR ERCCIL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RALA can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.31

Highest tissue expression

51 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RALA.

Disease | AllUniProt

Conditions RALA is implicated in, by any mechanism.

• Hiatt-Neu-Cooper neurodevelopmental syndrome (HINCONS) MIM:619311

Disease | GeneticClinVar

14 pathogenic / likely-pathogenic of 127 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Hiatt-Neu-Cooper neurodevelopmental syndrome
• Inborn genetic diseases
• Intellectual disability
• Neurodevelopmental delay

ReferencesPubMed · IEDB

Publications for RALA from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.27

gnomAD pLI

0.97

gnomAD missense Z

2.7

DepMap mean gene effect

-0.13

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 10% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cell division
• chemotaxis
• establishment of protein localization to mitochondrion
• exocytosis
• neural tube closure
• positive regulation of epidermal growth factor receptor signaling pathway
• positive regulation of filopodium assembly
• positive regulation of mitochondrial fission
• Ras protein signal transduction
• receptor internalization
• regulation of actin cytoskeleton organization
• regulation of exocytosis
• regulation of postsynaptic neurotransmitter receptor internalization
• signal transduction
• membrane raft localization

Molecular functions

• ATPase binding
• Edg-2 lysophosphatidic acid receptor binding
• G protein activity
• GDP binding
• GTP binding
• GTPase activity
• myosin binding
• ubiquitin protein ligase binding

Cellular components

• cell surface
• cleavage furrow
• cytoplasmic vesicle membrane
• extracellular exosome
• Flemming body
• focal adhesion
• mitochondrion
• plasma membrane
• Schaffer collateral - CA1 synapse
• synaptic membrane

Protein domainsUniProt · Pfam · InterPro

• Small GTPase
• Small GTP-binding domain
• Small GTPase, Ras-type
• P-loop containing nucleoside triphosphate hydrolase
• Ras family

KeywordsUniProt

• Cell cycle
• Cell division
• Cell membrane
• Exocytosis
• Glycoprotein
• GTP-binding
• Hydrolase
• Intellectual disability
• Lipoprotein
• Membrane
• Methylation
• Mitochondrion
• Nucleotide-binding
• Phosphoprotein
• Prenylation

InteractionsUniProt · HPA

Protein binding partners of RALA in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• CDC42
• GRK2
• LPAR1
• LPAR2
• RALGPS1
• PRKCH
• RALGPS2
• RASSF5
• EXOC2
• CALM1
• HRAS
• PPP2R1B
• RALBP1