AIPL1
entrez
23746
canonical
uniprot
Q9NZN9
canonical
ensembl
ENSG00000129221
resolver
ensp
ENSP00000250087
resolver
ensp
ENSP00000370521
resolver
ensp
ENSP00000458456
resolver
ensp
ENSP00000459522
resolver
ensp
ENSP00000459673
resolver
ensp
ENSP00000460134
resolver
ensp
ENSP00000460827
resolver
ensp
ENSP00000461287
resolver
enst
ENST00000571740
resolver
enst
ENST00000574506
resolver
enst
ENST00000575265
resolver
genesymbol
AIPL1
resolver
genesymbol
DKFZp686O2183
resolver
genesymbol_syn
AIPL1
resolver
genesymbol_syn
AIPL2
resolver
hgnc
HGNC:359
resolver
uniprot
D3DTM4
resolver
uniprot
F1T0B5
resolver
uniprot
F1T0B6
resolver
uniprot
F1T0C0
resolver
uniprot
F1T0C4
resolver
uniprot
I3L0Z5
resolver
uniprot
I3L2H0
resolver
uniprot
I3L330
resolver
uniprot
Q659W3
resolver
uniprot
Q659W4
resolver
uniprot
Q6ZZB6
resolver
uniprot
Q7Z3H1
resolver
uniprot
Q8N6A0
resolver
uniprot
Q9H873
resolver
uniprot
Q9NS10
resolver
uniprot_entry
AIPL1_HUMAN
resolver
uniprot_entry
F1T0B5_HUMAN
resolver
uniprot_entry
F1T0B6_HUMAN
resolver
uniprot_entry
F1T0C0_HUMAN
resolver
uniprot_entry
F1T0C4_HUMAN
resolver
uniprot_entry
I3L0Z5_HUMAN
resolver
uniprot_entry
I3L2H0_HUMAN
resolver
uniprot_entry
I3L330_HUMAN
resolver
uniprot_entry
Q7Z3H1_HUMAN
resolver
uniprot_sec
D3DTM4
resolver
uniprot_sec
Q659W3
resolver
uniprot_sec
Q659W4
resolver
uniprot_sec
Q6ZZB6
resolver
uniprot_sec
Q8N6A0
resolver
uniprot_sec
Q9H873
resolver
uniprot_sec
Q9NS10
resolver
amino_acid_sequence
MDAALLLNVEGVKKTILHGGTGELPNFITGSRVIFHFRTMKCDEERTVIDDSRQVGQPMHIIIGNMFKLEVWEILLTSMRVHEVAEFWCDTIHTGVYPILSRSLRQMAQGKDPTEWHVHTCGLANMFAYHTLGYEDLDELQKEPQPLVFVIELLQVDAPSDYQRETWNLSNHEKMKAVPVLHGEGNRLFKLGRYEEASSKYQEAIICLRNLQTKEKPWEVQWLKLEKMINTLILNYCQCLLKKEEYYEVLEHTSDILRHHPGIVKAYYVRARAHAEVWNEAEAKADLQKVLELEPSMQKAVRRELRLLENRMAEKQEEERLRCRNMLSQGATQPPAEPPTEPPAQSSTEPPAEPPTAPSAELSAGPPAEPATEPPPSPGHSLQH
uniprot
proteins
disease_involvement
DISEASE: Leber congenital amaurosis 4 (LCA4) [MIM:604393]: A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. {ECO:0000269|PubMed:10615133, ECO:0000269|PubMed:12374762, ECO:0000269|PubMed:17724218}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: May be important in protein trafficking and/or protein folding and stabilization.
uniprot
proteins
mass_dalton
43903
uniprot
proteins
mutagenesis
MUTAGEN 53; /note="R->W: No interaction with NUB1."; /evidence="ECO:0000269|PubMed:12374762"; MUTAGEN 79; /note="M->T: No interaction with NUB1."; /evidence="ECO:0000269|PubMed:12374762"; MUTAGEN 96; /note="V->I: No interaction with NUB1."; /evidence="ECO:0000269|PubMed:12374762"; MUTAGEN 197; /note="A->P: No significant effect on interaction with NUB1."; /evidence="ECO:0000269|PubMed:12374762"; MUTAGEN 206; /note="I->N: No significant effect on interaction with NUB1."; /evidence="ECO:0000269|PubMed:12374762"; MUTAGEN 262; /note="G->S: No interaction with NUB1."; /evidence="ECO:0000269|PubMed:12374762
uniprot
proteins
pubmed
10615133
uniprot
proteins
pubmed
12374762
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
17724218
uniprot
proteins
pubmed
21602930
uniprot
proteins
sequence_length
384
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12374762}. Nucleus {ECO:0000269|PubMed:12374762}.
uniprot
proteins