LOCUS       NM_014336               2894 bp    mRNA    linear   PRI 17-JAN-2025
DEFINITION  Homo sapiens AIP like 1 HSP90 co-chaperone (AIPL1), transcript
            variant 1, mRNA.
ACCESSION   NM_014336
VERSION     NM_014336.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2894)
  AUTHORS   Sacristan-Reviriego,A., Le,H.M., Georgiou,M., Meunier,I.,
            Bocquet,B., Roux,A.F., Prodromou,C., Bainbridge,J., Michaelides,M.
            and van der Spuy,J.
  TITLE     Clinical and functional analyses of AIPL1 variants reveal
            mechanisms of pathogenicity linked to different forms of retinal
            degeneration
  JOURNAL   Sci Rep 10 (1), 17520 (2020)
   PUBMED   33067476
  REMARK    GeneRIF: Clinical and functional analyses of AIPL1 variants reveal
            mechanisms of pathogenicity linked to different forms of retinal
            degeneration.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2894)
  AUTHORS   Rashid,M., Qasim,M., Ishaq,R., Bukhari,S.A., Sajid,Z., Ashfaq,U.A.,
            Haque,A. and Ahmed,Z.M.
  TITLE     Pathogenic variants of AIPL1, MERTK, GUCY2D, and FOXE3 in Pakistani
            families with clinically heterogeneous eye diseases
  JOURNAL   PLoS One 15 (9), e0239748 (2020)
   PUBMED   32976546
  REMARK    GeneRIF: Pathogenic variants of AIPL1, MERTK, GUCY2D, and FOXE3 in
            Pakistani families with clinically heterogeneous eye diseases.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2894)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 2894)
  AUTHORS   Lukovic,D., Artero Castro,A., Kaya,K.D., Munezero,D., Gieser,L.,
            Davo-Martinez,C., Corton,M., Cuenca,N., Swaroop,A., Ramamurthy,V.,
            Ayuso,C. and Erceg,S.
  TITLE     Retinal Organoids derived from hiPSCs of an AIPL1-LCA Patient
            Maintain Cytoarchitecture despite Reduced levels of Mutant AIPL1
  JOURNAL   Sci Rep 10 (1), 5426 (2020)
   PUBMED   32214115
  REMARK    GeneRIF: Retinal Organoids derived from hiPSCs of an AIPL1-LCA
            Patient Maintain Cytoarchitecture despite Reduced levels of Mutant
            AIPL1.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2894)
  AUTHORS   Sohocki,M.M., Perrault,I., Leroy,B.P., Payne,A.M., Dharmaraj,S.,
            Bhattacharya,S.S., Kaplan,J., Maumenee,I.H., Koenekoop,R.,
            Meire,F.M., Birch,D.G., Heckenlively,J.R. and Daiger,S.P.
  TITLE     Prevalence of AIPL1 mutations in inherited retinal degenerative
            disease
  JOURNAL   Mol Genet Metab 70 (2), 142-150 (2000)
   PUBMED   10873396
REFERENCE   6  (bases 1 to 2894)
  AUTHORS   Sohocki,M.M., Bowne,S.J., Sullivan,L.S., Blackshaw,S., Cepko,C.L.,
            Payne,A.M., Bhattacharya,S.S., Khaliq,S., Qasim Mehdi,S.,
            Birch,D.G., Harrison,W.R., Elder,F.F., Heckenlively,J.R. and
            Daiger,S.P.
  TITLE     Mutations in a new photoreceptor-pineal gene on 17p cause Leber
            congenital amaurosis
  JOURNAL   Nat Genet 24 (1), 79-83 (2000)
   PUBMED   10615133
REFERENCE   7  (bases 1 to 2894)
  AUTHORS   Sohocki,M.M., Malone,K.A., Sullivan,L.S. and Daiger,S.P.
  TITLE     Localization of retina/pineal-expressed sequences: identification
            of novel candidate genes for inherited retinal disorders
  JOURNAL   Genomics 58 (1), 29-33 (1999)
   PUBMED   10331942
REFERENCE   8  (bases 1 to 2894)
  AUTHORS   Kumaran,N., Pennesi,M.E., Yang,P., Trzupek,K.M., Schlechter,C.,
            Moore,A.T., Weleber,R.G. and Michaelides,M.
  TITLE     Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy
            Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   30285347
REFERENCE   9  (bases 1 to 2894)
  AUTHORS   Fahim,A.T., Daiger,S.P. and Weleber,R.G.
  TITLE     Nonsyndromic Retinitis Pigmentosa Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301590
REFERENCE   10 (bases 1 to 2894)
  AUTHORS   Weleber,R.G., Francis,P.J., Trzupek,K.M. and Beattie,C.
  TITLE     Leber Congenital Amaurosis - RETIRED CHAPTER, FOR HISTORICAL
            REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301475
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF525970.1, AB593052.1 and
            BU737234.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_014336.4.
            
            Summary: Leber congenital amaurosis (LCA) is the most severe
            inherited retinopathy with the earliest age of onset and accounts
            for at least 5% of all inherited retinal diseases. Affected
            individuals are diagnosed at birth or in the first few months of
            life with nystagmus, severely impaired vision or blindness and an
            abnormal or flat electroretinogram. The
            photoreceptor/pineal-expressed gene, AIPL1, encoding
            aryl-hydrocarbon interacting protein-like 1, is located within the
            LCA4 candidate region. The encoded protein contains three
            tetratricopeptide motifs, consistent with chaperone or nuclear
            transport activity. Mutations in this gene may cause approximately
            20% of recessive LCA. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Jan 2014].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB593052.1, AB593055.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968968,
                                           SAMEA2142363 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000381129.8/ ENSP00000370521.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1                 AF525970.1         79-79
            2-2892              AB593052.1         1-2891
            2893-2894           BU737234.1         19-20               c
FEATURES             Location/Qualifiers
     source          1..2894
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.2"
     gene            1..2894
                     /gene="AIPL1"
                     /gene_synonym="AIPL2; LCA4"
                     /note="AIP like 1 HSP90 co-chaperone"
                     /db_xref="GeneID:23746"
                     /db_xref="HGNC:HGNC:359"
                     /db_xref="MIM:604392"
     exon            1..113
                     /gene="AIPL1"
                     /gene_synonym="AIPL2; LCA4"
                     /inference="alignment:Splign:2.1.0"
     CDS             18..1172
                     /gene="AIPL1"
                     /gene_synonym="AIPL2; LCA4"
                     /note="isoform 1 is encoded by transcript variant 1; aryl
                     hydrocarbon receptor interacting protein like 1"
                     /codon_start=1
                     /product="aryl-hydrocarbon-interacting protein-like 1
                     isoform 1"
                     /protein_id="NP_055151.3"
                     /db_xref="CCDS:CCDS11075.1"
                     /db_xref="GeneID:23746"
                     /db_xref="HGNC:HGNC:359"
                     /db_xref="MIM:604392"
                     /translation="MDAALLLNVEGVKKTILHGGTGELPNFITGSRVIFHFRTMKCDE
                     ERTVIDDSRQVGQPMHIIIGNMFKLEVWEILLTSMRVHEVAEFWCDTIHTGVYPILSR
                     SLRQMAQGKDPTEWHVHTCGLANMFAYHTLGYEDLDELQKEPQPLVFVIELLQVDAPS
                     DYQRETWNLSNHEKMKAVPVLHGEGNRLFKLGRYEEASSKYQEAIICLRNLQTKEKPW
                     EVQWLKLEKMINTLILNYCQCLLKKEEYYEVLEHTSDILRHHPGIVKAYYVRARAHAE
                     VWNEAEAKADLQKVLELEPSMQKAVRRELRLLENRMAEKQEEERLRCRNMLSQGATQP
                     PAEPPTEPPAQSSTEPPAEPPTAPSAELSAGPPAEPATEPPPSPGHSLQH"
     exon            114..293
                     /gene="AIPL1"
                     /gene_synonym="AIPL2; LCA4"
                     /inference="alignment:Splign:2.1.0"
     exon            294..482
                     /gene="AIPL1"
                     /gene_synonym="AIPL2; LCA4"
                     /inference="alignment:Splign:2.1.0"
     exon            483..659
                     /gene="AIPL1"
                     /gene_synonym="AIPL2; LCA4"
                     /inference="alignment:Splign:2.1.0"
     exon            660..801
                     /gene="AIPL1"
                     /gene_synonym="AIPL2; LCA4"
                     /inference="alignment:Splign:2.1.0"
     exon            802..2894
                     /gene="AIPL1"
                     /gene_synonym="AIPL2; LCA4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2874..2879
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AIPL1"
                     /gene_synonym="AIPL2; LCA4"
                     /note="hexamer: AATAAA"
     polyA_site      2894
                     /gene="AIPL1"
                     /gene_synonym="AIPL2; LCA4"
                     /note="major polyA site"
ORIGIN      
        1 ccctttctcc tgcagccatg gatgccgctc tgctcctgaa cgtggaaggg gtcaagaaaa
       61 ccattctgca cgggggcacg ggcgagctcc caaacttcat caccggatcc cgagtgatct
      121 ttcatttccg caccatgaaa tgtgatgagg agcggacagt cattgacgac agtcggcagg
      181 tgggccagcc catgcacatc atcatcggaa acatgttcaa gctcgaggtc tgggagatcc
      241 tgcttacctc catgcgggtg cacgaggtgg ccgagttctg gtgcgacacc atccacacgg
      301 gggtctaccc catcctatcc cggagcctga ggcagatggc ccagggcaag gaccccacag
      361 agtggcacgt gcacacgtgc gggctggcca acatgttcgc ctaccacacg ctgggctacg
      421 aggacctgga cgagctgcag aaggagcctc agcctctggt ctttgtgatc gagctgctgc
      481 aggttgatgc cccgagtgat taccagaggg agacctggaa cctgagcaat catgagaaga
      541 tgaaggcggt gcccgtcctc cacggagagg gaaatcggct cttcaagctg ggccgctacg
      601 aggaggcctc ttccaagtac caggaggcca tcatctgcct aaggaacctg cagaccaagg
      661 agaagccatg ggaggtgcag tggctgaagc tggagaagat gatcaatact ctgatcctca
      721 actactgcca gtgcctgctg aagaaggagg agtactatga ggtgctggag cacaccagtg
      781 atattctccg gcaccaccca ggcatcgtga aggcctacta cgtgcgtgcc cgggctcacg
      841 cagaggtgtg gaatgaggcc gaggccaagg cggacctcca gaaagtgctg gagctggagc
      901 cgtccatgca gaaggcggtg cgcagggagc tgaggctgct ggagaaccgc atggcggaga
      961 agcaggagga ggagcggctg cgctgccgga acatgctgag ccagggtgcc acgcagcctc
     1021 ccgcagagcc acccacagag ccacccgcac agtcatccac agagccacct gcagagccac
     1081 ccacagcacc atctgcagag ctgtccgcag ggccccctgc agagccagcc acagagccac
     1141 ccccgtcccc agggcactcg ctgcagcact gagccccctg aggcccacag ccacccaggc
     1201 agggagcaag tggcctggtc acttctggtt cgattgacca ggatcgtggt gtcacttttt
     1261 aaaatttaaa attaattttt gaaatcaaag tcagacacac ccatggtaaa aaaaaaaaaa
     1321 aaaacaatcc caagggtaca gaagagctta tgaataaaag tagttttctc ctctacccct
     1381 ctcattcctt ccgtgccatg gttttaattg accctgtttt taattcttct ggtagttttc
     1441 tctatttcca agtaatctgt ttaaatcagt ttctagattt taccccatgt caatgacaaa
     1501 tgaggatttg atgctctgat cctttctcat gcctgatacc cctccctgtc tccccatttt
     1561 ggatagttac atttgggggt catctcggtg atttttgtaa ctttacgcag gacacttaga
     1621 gctctctaga atcccactga ctttagtggg tcttgatgta gggtgggcaa gccccgacac
     1681 tggagcttag cctgagaggg ttcttggcct cccccaggaa agatttcaaa ggcaagcgcc
     1741 agtggtaggg tagaagaaaa cagctgtggt cgggcacggt ggctcacgcc tataatccca
     1801 gcactttggg aggccgaggc gggtggatca cctgaggtca ggagttccag accagcctgg
     1861 ccaacatggt gaaacctcat ctctactaaa aatacaaaaa aactagctgg gcgtggtggc
     1921 gggcgcctat aatcccagct acttgggagg ctgaggcagg agaattgatt gaacctggga
     1981 ggcggaggtt gcagtgagcc aagatcacgt cattgcactc cagcctggtc aacaagagta
     2041 aaacttcatc tcaaaaaaca aaacaaaaca aaaacaacaa caaaaaacaa aagaaaaaca
     2101 aacaaaacca aaaccaaaac agctgtattg aagctgcagt gttgcagctc tgtgactgcc
     2161 ctgcagagca gggctacccc ataggcagcg agcagcagct cagggcagtt ctgcagtcag
     2221 atttataccc acttttaatt acatgtagat taaggagctg catatacaaa gatttctagg
     2281 gaaggagtag taacttctgg gtcctggggt ctttgccacg gaacagggca gtatgccagg
     2341 gtgttgccac ggcaatggta aactgacatg gcaccctggg ggtcatgcct tagggaaagc
     2401 cgcttccact cgcccctgtt ttagctcatc ttcaagttag tctggtgtcc aagctccacc
     2461 gcctgcctca gtctggtgac ctccttctgt gtctgatgag catggcagcg ttgggacctt
     2521 ccccttccaa ctctctccct cctcttcgtc ctccctaaag gacgggtacg aggaggggct
     2581 atcacgccag cgacatcctc tagcaccacc caggtgtgtg gggtggggca ggggggcgac
     2641 gaagtatcca gcccagggcc acgtagtcaa ctgccaaggg cttcctgggc ttctcttctg
     2701 ccccagagct tgtctccacc cagcaggggt tcccccagcg ctaactgtat ccctaaagtt
     2761 ctgatgtact ttacttttcc atcttccttg ttgttaacat ctaccttctg ctctgtaagc
     2821 aaaactaaat cttctgtgct ttgtccatag gttgattcta caatctgaaa atcaataaac
     2881 agcatttgca tgat
//
