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Details on Person UniProt:Q3SXY8 ARL13B

Class:IdReferenceGeneProduct:218953
_chainChangeLogchain:1-428 added on Fri February 6 2015
_displayNameUniProt:Q3SXY8 ARL13B
_timestamp2024-11-03 19:35:08
chainchain:1-428
checksum002B38A38D1F7BDD
commentFUNCTION 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 fit; 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. Plays a role in ciliar trafficking of phosphatidylinositol phosphatase INPP5E in ciliogenesis (PubMed:38219074). May regulate ARF6- and RAB22A-dependent endocytic recycling traffic (PubMed:23223633).SUBUNIT Monomer (By similarity). Interacts with CIMAP3. Interacts with IFT complex B components IFT46 and IFT74 (By similarity) (PubMed:20643351, PubMed:24339792). Interacts with EXOC2; regulates ARL13B localization to the cilium membrane. Interacts with actin; the interaction mediates colocalization of ARL13B and microtubules (PubMed:23223633).INTERACTION Associates with the cilium membrane via palmitoylation. Localizes to proximal ciliary membranes, to an inversin-like subciliary membrane compartment, excluding the transition zone (PubMed:25138100, PubMed:38219074). Colocalizes with microtubules (PubMed:23223633).ALTERNATIVE PRODUCTS Expressed in the developing brain.DOMAIN The C-terminal domain is required for localization to microtubules and the cell membrane.PTM Sumoylation is required for PKD2 entry into cilium.DISEASE The disease is caused by variants affecting the gene represented in this entry.MISCELLANEOUS Used as a ciliary marker because of its specific localization to microtubule doublets of the ciliary axoneme.SIMILARITY Belongs to the small GTPase superfamily. Arf family.CAUTION Was initially thought to form a homodimer (PubMed:18554500). However, 3D structure of C.reinhardtii ortholog showed that it is probably not the case.
created[InstanceEdit:217385] Schmidt, EE, 2008-03-27 06:23:53
descriptionrecommendedName: ADP-ribosylation factor-like protein 13B alternativeName: ADP-ribosylation factor-like protein 2-like 1 shortName: ARL2-like protein 1
geneNameARL13B
ARL2L1
identifierQ3SXY8
isSequenceChangedFALSE
keywordAlternative splicing
Cell membrane
Cell projection
Ciliopathy
Cilium
Coiled coil
Cytoplasm
Cytoskeleton
Disease variant
GTP-binding
Isopeptide bond
Joubert syndrome
Lipoprotein
Membrane
Nucleotide-binding
Palmitate
Proteomics identification
Reference proteome
Ubl conjugation
modified[InstanceEdit:9836292] Weiser, Joel, 2023-05-25
[InstanceEdit:9852000] Weiser, Joel, 2023-11-03
[InstanceEdit:9917590] Weiser, Joel, 2024-08-09
[InstanceEdit:9926675] Weiser, Joel, 2024-11-03
nameARL13B
referenceDatabase[ReferenceDatabase:2] UniProt
referenceGene[ReferenceDNASequence:8998740] ENSEMBL:ENSG00000169379 ARL13B [Homo sapiens]
secondaryIdentifierAR13B_HUMAN
D3DN29
G3V1S8
Q504W8
Q8TCL5
sequenceLength428
species[Species:48887] Homo sapiens
(isoformParent)[ReferenceIsoform:218954] UniProt:Q3SXY8-2 ARL13B [Homo sapiens]
[ReferenceIsoform:406458] UniProt:Q3SXY8-1 ARL13B [Homo sapiens]
[ReferenceIsoform:8972285] UniProt:Q3SXY8-3 ARL13B [Homo sapiens]
(referenceEntity)[EntityWithAccessionedSequence:5618181] ARL13B [cilium] [Homo sapiens]
[EntityWithAccessionedSequence:9640110] Misfolded ARL13B [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:9640116] Misfolded ARL13B [cilium] [Homo sapiens]
[EntityWithAccessionedSequence:9641119] Ub-Misfolded ARL13B [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:9641129] PolyUb-Misfolded ARL13B [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:9659986] PolyUb-Misfolded ARL13B [late endosome lumen] [Homo sapiens]
[EntityWithAccessionedSequence:9660004] PolyUb-Misfolded ARL13B [lysosomal lumen] [Homo sapiens]
[EntityWithAccessionedSequence:9716787] ARL13B [plasma membrane] [Homo sapiens]
(referenceSequence)[GroupModifiedResidue:9659998] ubiquitinylated lysine (K63polyUb [cytosol]) at unknown position
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No pathways have been reviewed or authored by UniProt:Q3SXY8 ARL13B (218953)