ARL2
entrez
402
canonical
uniprot
P36404
canonical
ensembl
ENSG00000213465
resolver
ensp
ENSP00000246747
resolver
ensp
ENSP00000432971
resolver
genesymbol
ARL2
resolver
hgnc
HGNC:693
resolver
uniprot
G3V184
resolver
uniprot
Q9BUK8
resolver
uniprot_entry
ARL2_HUMAN
resolver
uniprot_sec
G3V184
resolver
uniprot_sec
Q9BUK8
resolver
amino_acid_sequence
MGLLTILKKMKQKERELRLLMLGLDNAGKTTILKKFNGEDIDTISPTLGFNIKTLEHRGFKLNIWDVGGQKSLRSYWRNYFESTDGLIWVVDSADRQRMQDCQRELQSLLVEERLAGATLLIFANKQDLPGALSSNAIREVLELDSIRSHHWCIQGCSAVTGENLLPGIDWLLDDISSRIFTAD
uniprot
proteins
disease_involvement
DISEASE: Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1 (MRCS1) [MIM:619082]: An autosomal dominant ocular disorder characterized by poor visual acuity in early childhood, due to congenital cataract and microcornea followed by rod-cone dystrophy, with later development of posterior staphyloma. {ECO:0000269|PubMed:30945270}. Note=The disease is 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). GTP-binding protein that does not act as an allosteric activator of the cholera toxin catalytic subunit. Regulates formation of new microtubules and centrosome integrity. Prevents the TBCD-induced microtubule destruction. Participates in association with TBCD, in the disassembly of the apical junction complexes. Antagonizes the effect of TBCD on epithelial cell detachment and tight and adherens junctions disassembly. Together with ARL2, plays a role in the nuclear translocation, retention and transcriptional activity of STAT3. Component of a regulated secretory pathway involved in Ca(2+)-dependent release of acetylcholine. Required for normal progress through the cell cycle (PubMed:10831612, PubMed:16525022, PubMed:18234692, PubMed:18588884, PubMed:20740604). Also regulates mitochondrial integrity and function (PubMed:30945270). {ECO:0000269|PubMed:10831612, ECO:0000269|PubMed:16525022, ECO:0000269|PubMed:18234692, ECO:0000269|PubMed:18588884, ECO:0000269|PubMed:20740604, ECO:0000269|PubMed:30945270}.
uniprot
proteins
mass_dalton
20878
uniprot
proteins
mutagenesis
MUTAGEN 3; /note="L->A: Reduces interaction with ARL2BP."; /evidence="ECO:0000269|PubMed:19368893"; MUTAGEN 3; /note="L->D: Reduces interaction with ARL2BP."; /evidence="ECO:0000269|PubMed:19368893"; MUTAGEN 4; /note="L->A: Does not reduce interaction with ARL2BP."; /evidence="ECO:0000269|PubMed:19368893"; MUTAGEN 4; /note="L->D: Reduces interaction with ARL2BP."; /evidence="ECO:0000269|PubMed:19368893"; MUTAGEN 6; /note="I->R: Reduces interaction with ARL2BP."; /evidence="ECO:0000269|PubMed:19368893"; MUTAGEN 7; /note="L->A: Does not reduce interaction with ARL2BP."; /evidence="ECO:0000269|PubMed:19368893"; MUTAGEN 7; /note="L->D: Reduces interaction with ARL2BP."; /evidence="ECO:0000269|PubMed:19368893"; MUTAGEN 30; /note="T->N: Does not inhibit the interaction with TBCD and rescues the TBCD-induced microtubule destruction. Reduces interaction with ARL2BP. Inhibits accumulation of STAT3 in the nucleus."; /evidence="ECO:0000269|PubMed:10831612, ECO:0000269|PubMed:18234692"; MUTAGEN 47; /note="T->A: Does not inhibit the interaction with TBCD and rescues the TBCD-induced microtubule destruction."; /evidence="ECO:0000269|PubMed:10831612"; MUTAGEN 50; /note="F->A: Reduces interaction with ARL2BP. Inhibits the interaction with TBCD and rescues the TBCD-induced microtubule destruction."; /evidence="ECO:0000269|PubMed:10831612, ECO:0000269|PubMed:19368893"; MUTAGEN 70; /note="Q->L: Induces cell cycle arrest, reduces ability to form microtubules and centrosome fragmentation. Inhibits the interaction with TBCD and does not rescue the TBCD-induced microtubule destruction. Interacts with ARL2BP and PDE6D."; /evidence="ECO:0000269|PubMed:10831612, ECO:0000269|PubMed:11303027, ECO:0000269|PubMed:16525022, ECO:0000269|PubMed:18234692"; MUTAGEN 76; /note="Y->A: Does not reduce interaction with ARL2BP."; /evidence="ECO:0000269|PubMed:19368893"; MUTAGEN 80; /note="Y->A: Reduces interaction with ARL2BP."; /evidence="ECO:0000269|PubMed:19368893
uniprot
proteins
post_translational_modification
PTM: Not N-myristoylated.
uniprot
proteins
protein_family
Arf family
uniprot
proteins
protein_family
Small GTPase superfamily
uniprot
proteins
pubmed
10488091
uniprot
proteins
pubmed
10831612
uniprot
proteins
pubmed
11303027
uniprot
proteins
pubmed
11809823
uniprot
proteins
pubmed
11847227
uniprot
proteins
pubmed
15146197
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16525022
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
17452337
uniprot
proteins
pubmed
18234692
uniprot
proteins
pubmed
18588884
uniprot
proteins
pubmed
18981177
uniprot
proteins
pubmed
19368893
uniprot
proteins
pubmed
20740604
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
27666374
uniprot
proteins
pubmed
30945270
uniprot
proteins
pubmed
8415637
uniprot
proteins
sequence_length
184
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion intermembrane space {ECO:0000305|PubMed:30945270}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Nucleus. Cytoplasm. Note=The complex formed with ARL2BP, ARL2 and SLC25A6 is expressed in mitochondria. The complex formed with ARL2BP, ARL2 and SLC25A4 is expressed in mitochondria (By similarity). Not detected in the Golgi, nucleus and on the mitotic spindle. Centrosome-associated throughout the cell cycle. Not detected to interphase microtubules. {ECO:0000250|UniProtKB:O08697}.
uniprot
proteins