InnateDB Protein
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IDBP-46155.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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ARL13B
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Protein Name
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ADP-ribosylation factor-like 13B
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000306225
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InnateDB Gene
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IDBG-46151 (ARL13B)
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Protein Structure
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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}.
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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.
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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.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
5
[view]
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Protein-Protein |
5
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR027417
P-loop containing nucleoside triphosphate hydrolase
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PFAM |
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q3SXY8
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PhosphoSite |
PhosphoSite-Q3SXY8
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TrEMBL |
B4DRI8
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UniProt Splice Variant |
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Entrez Gene |
200894
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UniGene |
Hs.533086
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RefSeq |
NP_659433
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HUGO |
HGNC:25419
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OMIM |
608922
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CCDS |
CCDS2924
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HPRD |
12334
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IMGT |
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EMBL |
AC117474
AC130896
AK299284
AL713789
BC094725
BC104035
BC104036
CH471052
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GenPept |
AAH94725
AAI04036
AAI04037
BAG61300
CAD28544
EAW79897
EAW79898
EAW79901
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