ARL2BP
entrez
23568
canonical
uniprot
Q9Y2Y0
canonical
ensembl
ENSG00000102931
resolver
ensp
ENSP00000219204
resolver
genesymbol
ARL2BP
resolver
genesymbol_syn
BART
resolver
genesymbol_syn
BART1
resolver
hgnc
HGNC:17146
resolver
uniprot
B3KQJ5
resolver
uniprot
Q504R0
resolver
uniprot_entry
AR2BP_HUMAN
resolver
uniprot_sec
B3KQJ5
resolver
uniprot_sec
Q504R0
resolver
amino_acid_sequence
MDALEGESFALSFSSASDAEFDAVVGYLEDIIMDDEFQLLQRNFMDKYYLEFEDTEENKLIYTPIFNEYISLVEKYIEEQLLQRIPEFNMAAFTTTLQHHKDEVAGDIFDMLLTFTDFLAFKEMFLDYRAEKEGRGLDLSSGLVVTSLCKSSSLPASQNNLRH
uniprot
proteins
disease_involvement
DISEASE: Retinitis pigmentosa 82 with or without situs inversus (RP82) [MIM:615434]: An autosomal recessive disorder characterized by variable association of retinitis pigmentosa with situs inversus. 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. Situs inversus is a congenital abnormality in which organs in the thorax and the abdomen are opposite to their normal positions due to lateral transposition. {ECO:0000269|PubMed:23849777, ECO:0000269|PubMed:27790702}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Together with ARL2, plays a role in the nuclear translocation, retention and transcriptional activity of STAT3. May play a role as an effector of ARL2. {ECO:0000269|PubMed:18234692}.
uniprot
proteins
mass_dalton
18822
uniprot
proteins
mutagenesis
MUTAGEN 56; /note="E->A: Decreases interaction with ARL2."; /evidence="ECO:0000269|PubMed:19368893"; MUTAGEN 57; /note="E->A: Decreases interaction with ARL2."; /evidence="ECO:0000269|PubMed:19368893"; MUTAGEN 60; /note="L->A: Decreases interaction with ARL2."; MUTAGEN 74; /note="E->A: Decreases interaction with ARL2."; /evidence="ECO:0000269|PubMed:19368893"; MUTAGEN 76; /note="Y->A: Decreases interaction with ARL2."; /evidence="ECO:0000269|PubMed:19368893"; MUTAGEN 109; /note="F->A: Decreases interaction with ARL2."; /evidence="ECO:0000269|PubMed:19368893"; MUTAGEN 110; /note="D->A: Decreases interaction with ARL2."; /evidence="ECO:0000269|PubMed:19368893"; MUTAGEN 111; /note="M->A: Does not decrease interaction with ARL2."; /evidence="ECO:0000269|PubMed:19368893"; MUTAGEN 112; /note="L->A: Decreases interaction with ARL2."; /evidence="ECO:0000269|PubMed:19368893"; MUTAGEN 115; /note="F->A: Decreases interaction with ARL2."; /evidence="ECO:0000269|PubMed:19368893
uniprot
proteins
protein_family
ARL2BP family
uniprot
proteins
pubmed
10488091
uniprot
proteins
pubmed
11303027
uniprot
proteins
pubmed
11809823
uniprot
proteins
pubmed
11847227
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16525022
uniprot
proteins
pubmed
18234692
uniprot
proteins
pubmed
18981177
uniprot
proteins
pubmed
19368893
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23849777
uniprot
proteins
pubmed
27790702
uniprot
proteins
pubmed
30945270
uniprot
proteins
sequence_length
163
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm. Mitochondrion intermembrane space. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Nucleus. Cytoplasm, cytoskeleton, spindle. Cytoplasm, cytoskeleton, cilium basal body. Note=The complex formed with ARL2BP, ARL2 and SLC25A4 is expressed in mitochondria (By similarity). Detected in the midbody matrix. Not detected in the Golgi, nucleus and on the mitotic spindle. Centrosome-associated throughout the cell cycle. Not detected to interphase microtubules. In retina photoreceptor cells, localized in the distal connecting cilia, basal body, ciliary-associated centriole, and ciliary rootlet. Interaction with ARL2 may be required for cilia basal body localization. {ECO:0000250}.
uniprot
proteins