ARL6
entrez
84100
canonical
uniprot
Q9H0F7
canonical
ensembl
ENSG00000113966
resolver
ensp
ENSP00000337722
resolver
ensp
ENSP00000418740
resolver
ensp
ENSP00000419619
resolver
ensp
ENSP00000488530
resolver
ensp
ENSP00000605604
resolver
ensp
ENSP00000779258
resolver
genesymbol
ARL6
resolver
genesymbol_syn
BBS3
resolver
hgnc
HGNC:13210
resolver
uniprot
A8KA93
resolver
uniprot
D3DN31
resolver
uniprot_entry
ARL6_HUMAN
resolver
uniprot_sec
A8KA93
resolver
uniprot_sec
D3DN31
resolver
amino_acid_sequence
MGLLDRLSVLLGLKKKEVHVLCLGLDNSGKTTIINKLKPSNAQSQNILPTIGFSIEKFKSSSLSFTVFDMSGQGRYRNLWEHYYKEGQAIIFVIDSSDRLRMVVAKEELDTLLNHPDIKHRRIPILFFANKMDLRDAVTSVKVSQLLCLENIKDKPWHICASDAIKGEGLQEGVDWLQDQIQTVKT
uniprot
proteins
disease_involvement
DISEASE: Bardet-Biedl syndrome 3 (BBS3) [MIM:600151]: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. {ECO:0000269|PubMed:15258860, ECO:0000269|PubMed:15314642, ECO:0000269|PubMed:23219996}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Retinitis pigmentosa 55 (RP55) [MIM:613575]: 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:19956407}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Involved in membrane protein trafficking at the base of the ciliary organelle. Mediates recruitment onto plasma membrane of the BBSome complex which would constitute a coat complex required for sorting of specific membrane proteins to the primary cilia (PubMed:20603001). Together with BBS1, is necessary for correct trafficking of PKD1 to primary cilia (By similarity). Together with the BBSome complex and LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation (PubMed:22072986). May regulate cilia assembly and disassembly and subsequent ciliary signaling events such as the Wnt signaling cascade (PubMed:20207729). Isoform 2 may be required for proper retinal function and organization (By similarity). {ECO:0000250|UniProtKB:O88848, ECO:0000269|PubMed:20207729, ECO:0000269|PubMed:20603001, ECO:0000269|PubMed:22072986}.
uniprot
proteins
mass_dalton
21097
uniprot
proteins
protein_family
Arf family
uniprot
proteins
protein_family
Small GTPase superfamily
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15258860
uniprot
proteins
pubmed
15314642
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
19236846
uniprot
proteins
pubmed
19956407
uniprot
proteins
pubmed
20207729
uniprot
proteins
pubmed
20333246
uniprot
proteins
pubmed
20603001
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22072986
uniprot
proteins
pubmed
23219996
uniprot
proteins
pubmed
25443296
uniprot
proteins
sequence_length
186
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell projection, cilium membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton, cilium axoneme. Cytoplasm, cytoskeleton, cilium basal body. Note=Appears in a pattern of punctae flanking the microtubule axoneme that likely correspond to small membrane-associated patches. Localizes to the so-called ciliary gate where vesicles carrying ciliary cargo fuse with the membrane.
uniprot
proteins