InnateDB Protein
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IDBP-758563.3
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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AIPL1
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Protein Name
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Synonyms
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AIPL2; LCA4;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000459522
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InnateDB Gene
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IDBG-21975 (AIPL1)
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Protein Structure
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Function |
May be important in protein trafficking and/or protein folding and stabilization.
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Subcellular Localization |
Cytoplasm {ECO:0000269PubMed:12374762}. Nucleus {ECO:0000269PubMed:12374762}.
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Disease Associations |
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:0000269PubMed:10615133, ECO:0000269PubMed:17724218}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Highly expressed in retina. Specifically localized to the developing photoreceptor layer and within the photoreceptors of the adult retina. {ECO:0000269PubMed:12374762}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 15 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
15
[view]
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Protein-Protein |
15
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR013026
Tetratricopeptide repeat-containing domain
IPR019734
Tetratricopeptide repeat
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PFAM |
PF13174
PF13176
PF13181
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PRINTS |
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PIRSF |
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SMART |
SM00028
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TIGRFAMs |
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Modification |
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SwissProt |
Q9NZN9
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PhosphoSite |
PhosphoSite-Q9NZN9
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
23746
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UniGene |
Hs.279887
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RefSeq |
NP_001028227
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HUGO |
HGNC:359
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OMIM |
604392
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CCDS |
CCDS32539
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HPRD |
05092
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IMGT |
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EMBL |
AB593053
AB593054
AC055872
AF148864
AF180472
AF525970
AJ633677
AJ830742
AJ830743
AK023970
BC012055
CH471108
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GenPept |
AAF26708
AAF74023
AAH12055
AAM88405
BAB14744
BAJ84000
BAJ84001
CAG17882
CAH25995
CAH25996
EAW90310
EAW90312
EAW90313
EAW90314
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