ARL3
entrez
403
canonical
uniprot
P36405
canonical
ensembl
ENSG00000138175
resolver
ensp
ENSP00000260746
resolver
enst
ENST00000260746
resolver
genesymbol
ARL3
resolver
genesymbol_syn
ARFL3
resolver
hgnc
HGNC:694
resolver
uniprot
B2R6C7
resolver
uniprot
Q53X83
resolver
uniprot
Q5JSM2
resolver
uniprot_entry
ARL3_HUMAN
resolver
uniprot_sec
B2R6C7
resolver
uniprot_sec
Q53X83
resolver
uniprot_sec
Q5JSM2
resolver
amino_acid_sequence
MGLLSILRKLKSAPDQEVRILLLGLDNAGKTTLLKQLASEDISHITPTQGFNIKSVQSQGFKLNVWDIGGQRKIRPYWKNYFENTDILIYVIDSADRKRFEETGQELAELLEEEKLSCVPVLIFANKQDLLTAAPASEIAEGLNLHTIRDRVWQIQSCSALTGEGVQDGMNWVCKNVNAKKK
uniprot
proteins
disease_involvement
DISEASE: Joubert syndrome 35 (JBTS35) [MIM:618161]: A form of Joubert syndrome, 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, renal disease, liver fibrosis, and polydactyly. JBTS35 inheritance is autosomal recessive. {ECO:0000269|PubMed:30269812}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Retinitis pigmentosa 83 (RP83) [MIM:618173]: An autosomal dominant form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269|PubMed:26964041}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Small GTP-binding protein which cycles between an inactive GDP-bound and an active GTP-bound form, and the rate of cycling is regulated by guanine nucleotide exchange factors (GEF) and GTPase-activating proteins (GAP) (PubMed:16525022, PubMed:18588884). Required for normal cytokinesis and cilia signaling (PubMed:22085962). Requires assistance from GTPase-activating proteins (GAPs) like RP2 and PDE6D, in order to cycle between inactive GDP-bound and active GTP-bound forms. Required for targeting proteins to the cilium, including myristoylated NPHP3 and prenylated INPP5E (PubMed:30269812). Targets NPHP3 to the ciliary membrane by releasing myristoylated NPHP3 from UNC119B cargo adapter into the cilium (PubMed:22085962). Required for PKD1:PKD2 complex targeting from the trans-Golgi network to the cilium (By similarity). {ECO:0000250|UniProtKB:Q9WUL7, ECO:0000269|PubMed:16525022, ECO:0000269|PubMed:18588884, ECO:0000269|PubMed:22085962}.
uniprot
proteins
mass_dalton
20456
uniprot
proteins
mutagenesis
MUTAGEN 31; /note="T->N: Enhances the interaction with RP2."; /evidence="ECO:0000269|PubMed:11847227, ECO:0000269|PubMed:22085962"; MUTAGEN 71; /note="Q->L: Enhances the interaction with RP2. Does not induce a mitotic arrest resulting from the loss of the microtubule-based mitotic spindle. Induces release of myristoylated proteins from UNC119. Interacts with ARL2BP, GOLGA4, PDE6D and UNC119."; /evidence="ECO:0000269|PubMed:11303027, ECO:0000269|PubMed:11847227, ECO:0000269|PubMed:16525022, ECO:0000269|PubMed:22085962
uniprot
proteins
protein_family
Arf family
uniprot
proteins
protein_family
Small GTPase superfamily
uniprot
proteins
pubmed
10831612
uniprot
proteins
pubmed
11303027
uniprot
proteins
pubmed
11847227
uniprot
proteins
pubmed
12417528
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15077113
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16472755
uniprot
proteins
pubmed
16525022
uniprot
proteins
pubmed
18588884
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22085962
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26964041
uniprot
proteins
pubmed
30269812
uniprot
proteins
pubmed
8034651
uniprot
proteins
sequence_length
182
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton, spindle. Nucleus. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm. Cell projection, cilium {ECO:0000269|PubMed:30269812}. Note=Detected predominantly in the photoreceptor connecting cilium. Present on the mitotic spindle. Centrosome-associated throughout the cell cycle. Not detected to interphase microtubules.
uniprot
proteins