InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ARL13B

Summary

InnateDB Protein

IDBP-485362.3

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ARL13B

Protein Name

ADP-ribosylation factor-like 13B

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000420780

InnateDB Gene

IDBG-46151 (ARL13B)

Protein Structure

UniProt Annotation

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 evidences are required to confirm these data. {ECO:0000269PubMed:23150559}.

Subcellular Localization

Cell projection, cilium membrane {ECO:0000269PubMed:18554500, ECO:0000269PubMed:24120134}; Lipid- anchor {ECO:0000269PubMed:18554500, ECO:0000269PubMed:24120134}. Note=Associates to the cilium membrane via palmitoylation. Localizes to proximal ciliary membranes, to an inversin-like subciliary membrane compartment, excluding the transition zone.

Disease Associations

Joubert syndrome 8 (JBTS8) [MIM:612291]: A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. {ECO:0000269PubMed:18674751}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.

Experimentally validated
Total	5 [view]
Protein-Protein	5 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0005525	GTP binding

Biological Process

GO:0006886	intracellular protein transport
GO:0007224	smoothened signaling pathway
GO:0007264	small GTPase mediated signal transduction
GO:0021532	neural tube patterning
GO:0021830	interneuron migration from the subpallium to the cortex
GO:0021943	formation of radial glial scaffolds
GO:0035058	nonmotile primary cilium assembly
GO:0042384	cilium assembly

Cellular Component

GO:0005622	intracellular
GO:0005929	cilium
GO:0060170	ciliary membrane
GO:0072372	primary cilium

Protein Structure and Domains

PDB ID

InterPro

IPR001806 Small GTPase superfamily
IPR005225 Small GTP-binding protein domain
IPR006687 Small GTPase superfamily, SAR1-type
IPR006689 Small GTPase superfamily, ARF/SAR type
IPR019009 Signal recognition particle receptor, beta subunit
IPR024156 Small GTPase superfamily, ARF type
IPR027417 P-loop containing nucleoside triphosphate hydrolase

PFAM

PF00071
PF00025
PF09439

PRINTS

PR00449
PR00328

PIRSF

SMART

SM00178
SM00177

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt