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UniProtKB/Swiss-Prot entry Q9NZN9


[Entry info] [Name and origin] [References] [Comments] [Cross-references] [Keywords] [Features] [Sequence] [Tools]

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Entry information
Entry name AIPL1_HUMAN
Primary accession number Q9NZN9
Secondary accession numbers Q9H873 Q9NS10
Integrated into Swiss-Prot on January 11, 2001
Sequence was last modified on September 19, 2002 (Sequence version 2)
Annotations were last modified on    September 2, 2008 (Entry version 80)
Name and origin of the protein
Protein name Aryl-hydrocarbon-interacting protein-like 1
Synonyms None
Gene name
Name: AIPL1
From
Homo sapiens (Human) [TaxID: 9606] 
Taxonomy Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
Protein existence 1: Evidence at protein level;
References
[1]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT HIS-90, AND VARIANT LCA4 ARG-239.
DOI=10.1038/71732; PubMed=10615133 [NCBI, ExPASy, EBI, Israel, Japan]
Sohocki M.M., Bowne S.J., Sullivan L.S., Blackshaw S., Cepko C.L., Payne A.M., Bhattacharya S.S., Khaliq S., Mehdi Q., Birch D.G., Harrison W.R., Elder F.F.B., Heckenlively J.R., Daiger S.P.;
"Mutations in a novel photoreceptor-pineal gene on 17p cause Leber congenital amaurosis.";
Nat. Genet. 24:79-83(2000).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
DOI=10.1038/ng1285; PubMed=14702039 [NCBI, ExPASy, EBI, Israel, Japan]
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S., Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
"Complete sequencing and characterization of 21,243 full-length human cDNAs.";
Nat. Genet. 36:40-45(2004).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Eye;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[4]
INTERACTION WITH NUB1, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, MUTAGENESIS OF ARG-53; MET-79; VAL-96; ALA-197; ILE-206; GLY-262 AND ARG-302, AND CHARACTERIZATION OF VARIANT LCA4 ARG-239.
TISSUE=Retina;
DOI=10.1093/hmg/11.22.2723; PubMed=12374762 [NCBI, ExPASy, EBI, Israel, Japan]
Akey D.T., Zhu X., Dyer M., Li A., Sorensen A., Blackshaw S., Fukuda-Kamitani T., Daiger S.P., Craft C.M., Kamitani T., Sohocki M.M.;
"The inherited blindness associated protein AIPL1 interacts with the cell cycle regulator protein NUB1.";
Hum. Mol. Genet. 11:2723-2733(2002).
Comments
Copyright
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.
Cross-references
Sequence databases
EMBL
AF180472; AAF26708.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF148864; AAF74023.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AK023970; BAB14744.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC012055; AAH12055.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
RefSeq NP_055151.3; -.
UniGene Hs.279887
3D structure databases
ModBase Q9NZN9.
PTM databases
PhosphoSite Q9NZN9; -.
Organism-specific databases
H-InvDB HIX0013476; -.
HGNC HGNC:359; AIPL1.
GenAtlas AIPL1.
MIM 604392; gene. [NCBI / EBI]
604393; phenotype. [NCBI / EBI]
Orphanet 65; Amaurosis congenita of Leber.
PharmGKB PA24653; -.
GeneCards Q9NZN9.
Gene expression databases
ArrayExpress Q9NZN9; -.
CleanEx HS_AIPL1; -.
GermOnline ENSG00000129221; Homo sapiens.
Ontologies
GO
GO:0005634; Cellular component: nucleus (traceable author statement from ProtInc).
GO:0051082; Molecular function: unfolded protein binding (traceable author statement from ProtInc).
GO:0007601; Biological process: visual perception (traceable author statement from ProtInc).
QuickGo view.
Family and domain databases
InterPro IPR001179; PPIase_FKBP.
IPR011990; TPR-like_helical.
IPR013105; TPR_2.
IPR013026; TPR_region.
Graphical view of domain structure.
Gene3D G3DSA:1.25.40.10; TPR-like_helical; 1.
Pfam PF00254; FKBP_C; 1.
PF07719; TPR_2; 2.
Pfam graphical view of domain structure.
PROSITE PS50059; FKBP_PPIASE; FALSE_NEG.
PS50005; TPR; FALSE_NEG.
PS50293; TPR_REGION; 2.
PROSITE graphical view of domain structure (profiles).
BLOCKS Q9NZN9.
Genome annotation databases
Ensembl ENSG00000129221; Homo sapiens. [Contig view]
GeneID 23746; -.
Phylogenomic databases
HOGENOM Q9NZN9; -.
HOVERGEN Q9NZN9; -.
Other
SOURCE AIPL1; Homo sapiens.
ProtoNet Q9NZN9.
UniRef View cluster of proteins with at least 50% / 90% / 100% identity.
Keywords
Cytoplasm; Disease mutation; Leber congenital amaurosis; Nucleus; Repeat; Sensory transduction; TPR repeat; Vision.
Features
SEVIEWER logo Feature table viewer FT aligner logo Feature aligner
KeyFrom   To Length Description FTId
CHAIN   1   384  384     Aryl-hydrocarbon-interacting protein-like 1. PRO_0000075342
DOMAIN   53   145  93     PPIase FKBP-type. 
REPEAT   178   211  34     TPR 1. 
REPEAT   230   263  34     TPR 2. 
REPEAT   264   297  34     TPR 3. 
VARIANT   90    90  1     D -> H. VAR_010140 
VARIANT   239   239  1     C -> R (in LCA4; no significant effect on interaction with NUB1). VAR_010139 
MUTAGEN   53    53        R->W: No interaction with NUB1. 
MUTAGEN   79    79        M->T: No interaction with NUB1. 
MUTAGEN   96    96        V->I: No interaction with NUB1. 
MUTAGEN   197   197        A->P: No significant effect on interaction with NUB1. 
MUTAGEN   206   206        I->N: No significant effect on interaction with NUB1. 
MUTAGEN   262   262        G->S: No interaction with NUB1. 
MUTAGEN   302   302        R->L: No interaction with NUB1. 
CONFLICT   306   315        RLLENRMAEK -> EAAGEPHGGE (in Ref. 1; AAF26708). 
Sequence information
Length: 384 AA [This is the length of the unprocessed precursor] Molecular weight: 43903 Da [This is the MW of the unprocessed precursor] CRC64: 47F681A1DC91A82D [This is a checksum on the sequence]
        10         20         30         40         50         60 
MDAALLLNVE GVKKTILHGG TGELPNFITG SRVIFHFRTM KCDEERTVID DSRQVGQPMH 

        70         80         90        100        110        120 
IIIGNMFKLE VWEILLTSMR VHEVAEFWCD TIHTGVYPIL SRSLRQMAQG KDPTEWHVHT 

       130        140        150        160        170        180 
CGLANMFAYH TLGYEDLDEL QKEPQPLVFV IELLQVDAPS DYQRETWNLS NHEKMKAVPV 

       190        200        210        220        230        240 
LHGEGNRLFK LGRYEEASSK YQEAIICLRN LQTKEKPWEV QWLKLEKMIN TLILNYCQCL 

       250        260        270        280        290        300 
LKKEEYYEVL EHTSDILRHH PGIVKAYYVR ARAHAEVWNE AEAKADLQKV LELEPSMQKA 

       310        320        330        340        350        360 
VRRELRLLEN RMAEKQEEER LRCRNMLSQG ATQPPAEPPT EPPAQSSTEP PAEPPTAPSA 

       370        380 
ELSAGPPAEP ATEPPPSPGH SLQH 

Q9NZN9 in FASTA format

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