UniProt:Q3SXY8 ARL13B

chain
  • chain:1-428
checksum 002B38A38D1F7BDD
comment
  • 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 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
crossReference
databaseName UniProt
dbId 218953
description
  • recommendedName: ADP-ribosylation factor-like protein 13B alternativeName: ADP-ribosylation factor-like protein 2-like 1 shortName: ARL2-like protein 1
displayName UniProt:Q3SXY8 ARL13B
geneName
  • ARL13B
  • ARL2L1
identifier Q3SXY8
isSequenceChanged false
keyword
  • Alternative 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:9926675] Weiser, Joel, 2024-11-03
moleculeType Protein
name
  • ARL13B
otherIdentifier
  • 11727774_a_at
  • 11745327_a_at
  • 11748459_a_at
  • 16942991
  • 200894
  • 228201_PM_at
  • 228201_at
  • 2632454
  • 2632455
  • 2632456
  • 2632459
  • 2632460
  • 2632461
  • 2632462
  • 2632463
  • 2632467
  • 2632468
  • 2632469
  • 2632470
  • 2632471
  • 2632476
  • 2632478
  • 2632480
  • 2632481
  • 2632482
  • 2632483
  • 2632484
  • 2632488
  • 2632490
  • 48263_at
  • 79922_at
  • 8081115
  • A_14_P200100
  • A_23_P10081
  • A_24_P328668
  • A_24_P465576
  • GE555014
  • GE88314
  • GO:0000166
  • GO:0001947
  • GO:0003924
  • GO:0005515
  • GO:0005525
  • GO:0005737
  • GO:0005815
  • GO:0005829
  • GO:0005856
  • GO:0005886
  • GO:0005929
  • GO:0005930
  • GO:0007224
  • GO:0007368
  • GO:0009953
  • GO:0015630
  • GO:0016020
  • GO:0016787
  • GO:0021532
  • GO:0021830
  • GO:0021943
  • GO:0031514
  • GO:0036064
  • GO:0042995
  • GO:0043226
  • GO:0044782
  • GO:0045171
  • GO:0048870
  • GO:0060170
  • GO:0060271
  • GO:0070986
  • GO:0097500
  • GO:0097730
  • GO:1905515
  • HMNXSV003028902
  • Hs.85992.0.A1_3p_at
  • ILMN_1777301
  • ILMN_2403047
  • PH_hs_0024119
  • TC03000474.hg
  • TC03002422.hg
physicalEntity
referenceDatabase [ReferenceDatabase:2] UniProt
referenceGene
referenceTranscript
schemaClass ReferenceGeneProduct
secondaryIdentifier
  • AR13B_HUMAN
  • D3DN29
  • G3V1S8
  • Q504W8
  • Q8TCL5
sequenceLength 428
species [Species:48887] Homo sapiens
stId uniprot:Q3SXY8
url http://purl.uniprot.org/uniprot/Q3SXY8

Referrals

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(referenceSequence)
(interactor)
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