Product Details

Uniprot No.

Target Names

ARL13B

Alternative Names

ADP ribosylation factor like 13B antibody; ADP ribosylation factor like 2 like 1 antibody; ADP-ribosylation factor-like protein 13B antibody; ADP-ribosylation factor-like protein 2-like 1 antibody; AR13B_HUMAN antibody; arl13b antibody; ARL2-like protein 1 antibody; ARL2L1 antibody; JBTS8 antibody

Raised in

Rabbit

Species Reactivity

Human,Mouse,Rat

Immunogen

Human ARL13B

Immunogen Species

Homo sapiens (Human)

Isotype

IgG

Purification Method

Antigen Affinity purified

Concentration

It differs from different batches. Please contact us to confirm it.

Buffer

PBS with 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.

Tested Applications

ELISA,WB,IF

Protocols

ELISA Protocol
Western Blotting(WB) Protocol
Immunofluorescence (IF) Protocol

Troubleshooting and FAQs

Antibody FAQs

Storage

Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.

Lead Time

Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

Target Background

Function

Cilium-specific protein required to control the microtubule-based, ciliary axoneme structure. May act by maintaining the association between IFT subcomplexes A and B. Binds GTP but is not able to hydrolyze it; the GTPase activity remains unclear. Required to pattern the neural tube. Involved in cerebral cortex development: required for the initial formation of a polarized radial glial scaffold, the first step in the construction of the cerebral cortex, by regulating ciliary signaling. Regulates the migration and placement of postmitotic interneurons in the developing cerebral cortex. May regulate endocytic recycling traffic; however, additional evidence is required to confirm these data.

Gene References into Functions

Joubert syndrome protein ARL13B controls axoneme polyglutamylation. PMID: 30120249
A novel homozygous loss of function mutation in ARL13B was identified in patients with Joubert syndrome PMID: 29255182
High Arl13b expression is associated with medulloblastoma formation. PMID: 29378965
the results show that palmitoylation plays a unique and critical role in controlling the localization, stability, abundance, and thus function of ARL13b. Pharmacological manipulation of protein palmitoylation may be a strategy to alter cilia function. PMID: 28848045
Our results show how Arl13b participates in Hedgehog pathway activation in gastric cancer PMID: 28611043
Reduced primary cilia length and altered Arl13b expression are associated with deregulated chondrocyte Hedgehog signaling in alkaptonuria. PMID: 28158906
Biochemical characterization of purified mammalian ARL13B protein indicates that it is an atypical GTPase and ARL3 guanine nucleotide exchange factor (GEF).( PMID: 28487361
Thus our data identify a novel ARL13B variant that causes JS and retinopathy and suggest an extension of the phenotypic spectrum of ARL13B mutations to obesity. PMID: 25138100
We conclude that MKS/NPHP modules comprise a TZ barrier to ARL-13 diffusion, whereas IFT genes predominantly facilitate ARL-13 ciliary entry and/or retention via active transport mechanisms. PMID: 24339792
X-ray crystallography of Arl13B demonstrates involvement of mutations R79Q and R200C in stabilizing intramolecular interactions. PMID: 24168557
Arl13b acts as the all-rounder in cilia formation and signaling (Review). PMID: 23548655
data reveal a novel but conserved role for the SUMOylation modification of ciliary small GTPase ARL13B in specifically regulating the proper ciliary targeting of various sensory receptors PMID: 23128241
These results indicate a previously unidentified role for Arl13b in endocytic recycling traffic and suggest a link between Arl13b function and the actin cytoskeleton. PMID: 23223633
Expression of Arl13b variants known to cause Joubert syndrome induce defective interneuronal migration, suggesting that defects in cilia-dependent interneuron migration may in part underlie the neurological defects in Joubert syndrome patients. PMID: 23153492
data implicate a role for JS-associated Arl13b at ciliary membranes, where it regulates ciliary transmembrane protein localizations and anterograde IFT assembly stability PMID: 20231383
These findings suggest that N and C domains of Arl13b cooperatively regulate its ciliary localization and that N domain-dependent self-association of Arl13b may be important for its function in cilia biogenesis. PMID: 18554500
ARL13B has an evolutionarily conserved role mediating cilia function in multiple organs PMID: 18674751

Hide All

Involvement in disease

Joubert syndrome 8 (JBTS8)

Subcellular Location

Cell projection, cilium membrane; Lipid-anchor. Cell projection, cilium. Note=Associates to the cilium membrane via palmitoylation. Localizes to proximal ciliary membranes, to an inversin-like subciliary membrane compartment, excluding the transition zone.

Protein Families

Small GTPase superfamily, Arf family

Tissue Specificity

Expressed in the developing brain.

Database Links

HGNC: 25419

OMIM: 608922

KEGG: hsa:200894

STRING: 9606.ENSP00000377769

UniGene: Hs.533086