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Q9NZN9

- AIPL1_HUMAN

UniProt

Q9NZN9 - AIPL1_HUMAN

Protein

Aryl-hydrocarbon-interacting protein-like 1

Gene

AIPL1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
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    • History
      Entry version 134 (01 Oct 2014)
      Sequence version 2 (19 Sep 2002)
      Previous versions | rss
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    Functioni

    May be important in protein trafficking and/or protein folding and stabilization.

    GO - Molecular functioni

    1. farnesylated protein binding Source: MGI
    2. protein binding Source: IntAct
    3. unfolded protein binding Source: ProtInc

    GO - Biological processi

    1. negative regulation of apoptotic process Source: Ensembl
    2. phototransduction, visible light Source: Ensembl
    3. protein farnesylation Source: MGI
    4. protein folding Source: InterPro
    5. regulation of cGMP metabolic process Source: Ensembl
    6. retina homeostasis Source: Ensembl
    7. visual perception Source: ProtInc

    Keywords - Biological processi

    Sensory transduction, Vision

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Aryl-hydrocarbon-interacting protein-like 1
    Gene namesi
    Name:AIPL1
    Synonyms:AIPL2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:359. AIPL1.

    Subcellular locationi

    Cytoplasm 1 Publication. Nucleus 1 Publication

    GO - Cellular componenti

    1. cytoplasm Source: MGI
    2. nucleus Source: MGI
    3. photoreceptor inner segment Source: Ensembl

    Keywords - Cellular componenti

    Cytoplasm, Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti239 – 2391C → R in LCA4; no significant effect on interaction with NUB1. 1 Publication
    VAR_010139
    Natural varianti270 – 2701R → H in LCA4. 1 Publication
    VAR_067165
    Natural varianti302 – 3021R → L Found in a patient with LCA4; there is no interaction with NUB1. 1 Publication
    Corresponds to variant rs62637015 [ dbSNP | Ensembl ].
    VAR_067166
    Natural varianti309 – 3091E → DLNRREL Found in a patient with LCA4. 1 Publication
    VAR_067167

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi53 – 531R → W: No interaction with NUB1. 1 Publication
    Mutagenesisi79 – 791M → T: No interaction with NUB1. 1 Publication
    Mutagenesisi96 – 961V → I: No interaction with NUB1. 1 Publication
    Mutagenesisi197 – 1971A → P: No significant effect on interaction with NUB1. 1 Publication
    Mutagenesisi206 – 2061I → N: No significant effect on interaction with NUB1. 1 Publication
    Mutagenesisi262 – 2621G → S: No interaction with NUB1. 1 Publication

    Keywords - Diseasei

    Disease mutation, Leber congenital amaurosis

    Organism-specific databases

    MIMi604393. phenotype.
    Orphaneti1872. Cone rod dystrophy.
    65. Leber congenital amaurosis.
    791. Retinitis pigmentosa.
    PharmGKBiPA24653.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 384384Aryl-hydrocarbon-interacting protein-like 1PRO_0000075342Add
    BLAST

    Proteomic databases

    PaxDbiQ9NZN9.
    PRIDEiQ9NZN9.

    PTM databases

    PhosphoSiteiQ9NZN9.

    Expressioni

    Tissue specificityi

    Highly expressed in retina. Specifically localized to the developing photoreceptor layer and within the photoreceptors of the adult retina.1 Publication

    Gene expression databases

    ArrayExpressiQ9NZN9.
    BgeeiQ9NZN9.
    CleanExiHS_AIPL1.
    GenevestigatoriQ9NZN9.

    Interactioni

    Subunit structurei

    Interacts with NUB1.1 Publication

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    NUB1Q9Y5A72EBI-6557414,EBI-3936907

    Protein-protein interaction databases

    BioGridi117248. 13 interactions.
    IntActiQ9NZN9. 1 interaction.
    STRINGi9606.ENSP00000370521.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NZN9.
    SMRiQ9NZN9. Positions 7-165, 173-312.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini53 – 14593PPIase FKBP-typeAdd
    BLAST
    Repeati178 – 21134TPR 1Add
    BLAST
    Repeati230 – 26334TPR 2Add
    BLAST
    Repeati264 – 29734TPR 3Add
    BLAST

    Sequence similaritiesi

    Contains 1 PPIase FKBP-type domain.Curated
    Contains 3 TPR repeats.Curated

    Keywords - Domaini

    Repeat, TPR repeat

    Phylogenomic databases

    eggNOGiNOG250378.
    HOGENOMiHOG000007366.
    HOVERGENiHBG004198.
    InParanoidiQ9NZN9.
    KOiK17767.
    OMAiRLRCRNM.
    PhylomeDBiQ9NZN9.
    TreeFamiTF314507.

    Family and domain databases

    Gene3Di1.25.40.10. 1 hit.
    InterProiIPR001179. PPIase_FKBP_dom.
    IPR013026. TPR-contain_dom.
    IPR011990. TPR-like_helical.
    IPR013105. TPR_2.
    [Graphical view]
    PfamiPF00254. FKBP_C. 1 hit.
    PF07719. TPR_2. 2 hits.
    [Graphical view]
    PROSITEiPS50293. TPR_REGION. 2 hits.
    [Graphical view]

    Sequences (5)i

    Sequence statusi: Complete.

    This entry describes 5 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9NZN9-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MDAALLLNVE GVKKTILHGG TGELPNFITG SRVIFHFRTM KCDEERTVID    50
    DSRQVGQPMH IIIGNMFKLE VWEILLTSMR VHEVAEFWCD TIHTGVYPIL 100
    SRSLRQMAQG KDPTEWHVHT CGLANMFAYH TLGYEDLDEL QKEPQPLVFV 150
    IELLQVDAPS DYQRETWNLS NHEKMKAVPV LHGEGNRLFK LGRYEEASSK 200
    YQEAIICLRN LQTKEKPWEV QWLKLEKMIN TLILNYCQCL LKKEEYYEVL 250
    EHTSDILRHH PGIVKAYYVR ARAHAEVWNE AEAKADLQKV LELEPSMQKA 300
    VRRELRLLEN RMAEKQEEER LRCRNMLSQG ATQPPAEPPT EPPAQSSTEP 350
    PAEPPTAPSA ELSAGPPAEP ATEPPPSPGH SLQH 384
    Length:384
    Mass (Da):43,903
    Last modified:September 19, 2002 - v2
    Checksum:i47F681A1DC91A82D
    GO
    Isoform 2 (identifier: Q9NZN9-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         33-92: Missing.

    Show »
    Length:324
    Mass (Da):36,726
    Checksum:iD826DA73B42245AD
    GO
    Isoform 3 (identifier: Q9NZN9-3) [UniParc]FASTAAdd to Basket

    Also known as: AIPL2

    The sequence of this isoform differs from the canonical sequence as follows:
         93-155: Missing.

    Show »
    Length:321
    Mass (Da):36,655
    Checksum:i31F4DD713F0EC2F8
    GO
    Isoform 4 (identifier: Q9NZN9-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         33-54: Missing.

    Show »
    Length:362
    Mass (Da):41,195
    Checksum:iD7625B866C33BD4A
    GO
    Isoform 5 (identifier: Q9NZN9-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         215-238: Missing.

    Show »
    Length:360
    Mass (Da):40,901
    Checksum:i1200D3DC99532080
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti244 – 2441E → K in CAG17882. (PubMed:14702039)Curated
    Sequence conflicti306 – 31510RLLENRMAEK → EAAGEPHGGE in AAF26708. (PubMed:10615133)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti33 – 331V → A.
    Corresponds to variant rs16955859 [ dbSNP | Ensembl ].
    VAR_050626
    Natural varianti90 – 901D → H.2 Publications
    Corresponds to variant rs12449580 [ dbSNP | Ensembl ].
    VAR_010140
    Natural varianti134 – 1341Y → F.
    Corresponds to variant rs16955851 [ dbSNP | Ensembl ].
    VAR_050627
    Natural varianti239 – 2391C → R in LCA4; no significant effect on interaction with NUB1. 1 Publication
    VAR_010139
    Natural varianti270 – 2701R → H in LCA4. 1 Publication
    VAR_067165
    Natural varianti302 – 3021R → L Found in a patient with LCA4; there is no interaction with NUB1. 1 Publication
    Corresponds to variant rs62637015 [ dbSNP | Ensembl ].
    VAR_067166
    Natural varianti309 – 3091E → DLNRREL Found in a patient with LCA4. 1 Publication
    VAR_067167

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei33 – 9260Missing in isoform 2. 1 PublicationVSP_041507Add
    BLAST
    Alternative sequencei33 – 5422Missing in isoform 4. 1 PublicationVSP_047708Add
    BLAST
    Alternative sequencei93 – 15563Missing in isoform 3. 2 PublicationsVSP_041508Add
    BLAST
    Alternative sequencei215 – 23824Missing in isoform 5. 1 PublicationVSP_047709Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF180472 Genomic DNA. Translation: AAF26708.1.
    AF148864 mRNA. Translation: AAF74023.1.
    AF525970 mRNA. Translation: AAM88405.1.
    AK023970 mRNA. Translation: BAB14744.1.
    AJ633677 mRNA. Translation: CAG17882.1.
    AJ830742 mRNA. Translation: CAH25995.1.
    AJ830743 mRNA. Translation: CAH25996.1.
    AB593053 mRNA. Translation: BAJ84000.1.
    AB593054 mRNA. Translation: BAJ84001.1.
    AC055872 Genomic DNA. No translation available.
    CH471108 Genomic DNA. Translation: EAW90310.1.
    CH471108 Genomic DNA. Translation: EAW90312.1.
    CH471108 Genomic DNA. Translation: EAW90313.1.
    CH471108 Genomic DNA. Translation: EAW90314.1.
    BC012055 mRNA. Translation: AAH12055.1.
    CCDSiCCDS11075.1. [Q9NZN9-1]
    CCDS32539.1. [Q9NZN9-2]
    CCDS32540.1. [Q9NZN9-3]
    CCDS67130.1. [Q9NZN9-4]
    CCDS67133.1. [Q9NZN9-5]
    RefSeqiNP_001028226.1. NM_001033054.2. [Q9NZN9-3]
    NP_001028227.1. NM_001033055.2. [Q9NZN9-2]
    NP_001272328.1. NM_001285399.2.
    NP_001272329.1. NM_001285400.2. [Q9NZN9-4]
    NP_001272330.1. NM_001285401.2. [Q9NZN9-5]
    NP_001272332.1. NM_001285403.2.
    NP_055151.3. NM_014336.4. [Q9NZN9-1]
    UniGeneiHs.279887.

    Genome annotation databases

    EnsembliENST00000250087; ENSP00000250087; ENSG00000129221. [Q9NZN9-3]
    ENST00000381129; ENSP00000370521; ENSG00000129221. [Q9NZN9-1]
    ENST00000570466; ENSP00000461287; ENSG00000129221. [Q9NZN9-4]
    ENST00000576307; ENSP00000459522; ENSG00000129221. [Q9NZN9-2]
    ENST00000576776; ENSP00000460827; ENSG00000129221. [Q9NZN9-5]
    GeneIDi23746.
    KEGGihsa:23746.
    UCSCiuc002gcp.3. human. [Q9NZN9-1]
    uc002gcq.3. human. [Q9NZN9-2]
    uc002gcr.3. human. [Q9NZN9-3]

    Polymorphism databases

    DMDMi23503042.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    Mutations of the AIPL1 gene

    Retina International's Scientific Newsletter

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF180472 Genomic DNA. Translation: AAF26708.1 .
    AF148864 mRNA. Translation: AAF74023.1 .
    AF525970 mRNA. Translation: AAM88405.1 .
    AK023970 mRNA. Translation: BAB14744.1 .
    AJ633677 mRNA. Translation: CAG17882.1 .
    AJ830742 mRNA. Translation: CAH25995.1 .
    AJ830743 mRNA. Translation: CAH25996.1 .
    AB593053 mRNA. Translation: BAJ84000.1 .
    AB593054 mRNA. Translation: BAJ84001.1 .
    AC055872 Genomic DNA. No translation available.
    CH471108 Genomic DNA. Translation: EAW90310.1 .
    CH471108 Genomic DNA. Translation: EAW90312.1 .
    CH471108 Genomic DNA. Translation: EAW90313.1 .
    CH471108 Genomic DNA. Translation: EAW90314.1 .
    BC012055 mRNA. Translation: AAH12055.1 .
    CCDSi CCDS11075.1. [Q9NZN9-1 ]
    CCDS32539.1. [Q9NZN9-2 ]
    CCDS32540.1. [Q9NZN9-3 ]
    CCDS67130.1. [Q9NZN9-4 ]
    CCDS67133.1. [Q9NZN9-5 ]
    RefSeqi NP_001028226.1. NM_001033054.2. [Q9NZN9-3 ]
    NP_001028227.1. NM_001033055.2. [Q9NZN9-2 ]
    NP_001272328.1. NM_001285399.2.
    NP_001272329.1. NM_001285400.2. [Q9NZN9-4 ]
    NP_001272330.1. NM_001285401.2. [Q9NZN9-5 ]
    NP_001272332.1. NM_001285403.2.
    NP_055151.3. NM_014336.4. [Q9NZN9-1 ]
    UniGenei Hs.279887.

    3D structure databases

    ProteinModelPortali Q9NZN9.
    SMRi Q9NZN9. Positions 7-165, 173-312.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 117248. 13 interactions.
    IntActi Q9NZN9. 1 interaction.
    STRINGi 9606.ENSP00000370521.

    PTM databases

    PhosphoSitei Q9NZN9.

    Polymorphism databases

    DMDMi 23503042.

    Proteomic databases

    PaxDbi Q9NZN9.
    PRIDEi Q9NZN9.

    Protocols and materials databases

    DNASUi 23746.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000250087 ; ENSP00000250087 ; ENSG00000129221 . [Q9NZN9-3 ]
    ENST00000381129 ; ENSP00000370521 ; ENSG00000129221 . [Q9NZN9-1 ]
    ENST00000570466 ; ENSP00000461287 ; ENSG00000129221 . [Q9NZN9-4 ]
    ENST00000576307 ; ENSP00000459522 ; ENSG00000129221 . [Q9NZN9-2 ]
    ENST00000576776 ; ENSP00000460827 ; ENSG00000129221 . [Q9NZN9-5 ]
    GeneIDi 23746.
    KEGGi hsa:23746.
    UCSCi uc002gcp.3. human. [Q9NZN9-1 ]
    uc002gcq.3. human. [Q9NZN9-2 ]
    uc002gcr.3. human. [Q9NZN9-3 ]

    Organism-specific databases

    CTDi 23746.
    GeneCardsi GC17M006268.
    GeneReviewsi AIPL1.
    HGNCi HGNC:359. AIPL1.
    MIMi 604392. gene.
    604393. phenotype.
    neXtProti NX_Q9NZN9.
    Orphaneti 1872. Cone rod dystrophy.
    65. Leber congenital amaurosis.
    791. Retinitis pigmentosa.
    PharmGKBi PA24653.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG250378.
    HOGENOMi HOG000007366.
    HOVERGENi HBG004198.
    InParanoidi Q9NZN9.
    KOi K17767.
    OMAi RLRCRNM.
    PhylomeDBi Q9NZN9.
    TreeFami TF314507.

    Miscellaneous databases

    GeneWikii AIPL1.
    GenomeRNAii 23746.
    NextBioi 46671.
    PROi Q9NZN9.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9NZN9.
    Bgeei Q9NZN9.
    CleanExi HS_AIPL1.
    Genevestigatori Q9NZN9.

    Family and domain databases

    Gene3Di 1.25.40.10. 1 hit.
    InterProi IPR001179. PPIase_FKBP_dom.
    IPR013026. TPR-contain_dom.
    IPR011990. TPR-like_helical.
    IPR013105. TPR_2.
    [Graphical view ]
    Pfami PF00254. FKBP_C. 1 hit.
    PF07719. TPR_2. 2 hits.
    [Graphical view ]
    PROSITEi PS50293. TPR_REGION. 2 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1), VARIANT HIS-90, VARIANT LCA4 ARG-239.
    2. Guo J.H., Zhou G.J., Yu L.
      Submitted (JUL-2002) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
      Tissue: Retinoblastoma.
    3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      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.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    4. "Alternative splicing in AIPL1: Implications on function and the mutational spectrum."
      Janke B., Preising M., Lorenz B.
      Submitted (MAR-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2; 4 AND 5).
      Tissue: Retina.
    5. "Full-length cDNA derived from human retinoblastoma cell line Y79."
      Kato S.
      Submitted (MAR-2011) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
      Tissue: Retinoblastoma.
    6. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
      Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
      , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
      Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    8. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Eye.
    9. "The inherited blindness associated protein AIPL1 interacts with the cell cycle regulator protein NUB1."
      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.
      Hum. Mol. Genet. 11:2723-2733(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH NUB1, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, MUTAGENESIS OF ARG-53; MET-79; VAL-96; ALA-197; ILE-206 AND GLY-262, CHARACTERIZATION OF VARIANT LEU-302, CHARACTERIZATION OF VARIANT LCA4 ARG-239.
      Tissue: Retina.
    10. Cited for: VARIANT LCA4 HIS-270, VARIANT LEU-302.
    11. "Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis."
      Li L., Xiao X., Li S., Jia X., Wang P., Guo X., Jiao X., Zhang Q., Hejtmancik J.F.
      PLoS ONE 6:E19458-E19458(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HIS-90 AND GLU-309 DELINS ASP-LEU-ASN-ARG-ARG-GLU-LEU.

    Entry informationi

    Entry nameiAIPL1_HUMAN
    AccessioniPrimary (citable) accession number: Q9NZN9
    Secondary accession number(s): D3DTM4
    , Q659W3, Q659W4, Q6ZZB6, Q8N6A0, Q9H873, Q9NS10
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 11, 2001
    Last sequence update: September 19, 2002
    Last modified: October 1, 2014
    This is version 134 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 17
      Human chromosome 17: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3