LOCUS       NM_015665               1815 bp    mRNA    linear   PRI 29-OCT-2024
DEFINITION  Homo sapiens aladin WD repeat nucleoporin (AAAS), transcript
            variant 1, mRNA.
ACCESSION   NM_015665
VERSION     NM_015665.6
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 1815)
  AUTHORS   Smits,D.J., Dekker,J., Douben,H., Schot,R., Magee,H., Bakhtiari,S.,
            Koehler,K., Huebner,A., Schuelke,M., Darvish,H., Vosoogh,S.,
            Tafakhori,A., Jameie,M., Taghiabadi,E., Wilson,Y., Shah,M., van
            Slegtenhorst,M.A., Medici-van den Herik,E.G., van Ham,T.J.,
            Kruer,M.C. and Mancini,G.M.S.
  TITLE     Biallelic NDC1 variants that interfere with ALADIN binding are
            associated with neuropathy and triple A-like syndrome
  JOURNAL   HGG Adv 5 (4), 100327 (2024)
   PUBMED   39003500
  REMARK    GeneRIF: Biallelic NDC1 variants that interfere with ALADIN binding
            are associated with neuropathy and triple A-like syndrome.
REFERENCE   2  (bases 1 to 1815)
  AUTHORS   Jayant,S.S., Gupta,R., Agrawal,K., Das,L., Dutta,P. and Bhansali,A.
  TITLE     Triple A (Allgrove) syndrome due to AAAS gene mutation with a rare
            association of amyotrophy
  JOURNAL   Hormones (Athens) 20 (1), 197-205 (2021)
   PUBMED   32700293
  REMARK    GeneRIF: Triple A (Allgrove) syndrome due to AAAS gene mutation
            with a rare association of amyotrophy.
            Review article
REFERENCE   3  (bases 1 to 1815)
  AUTHORS   Koehler,K., Hackmann,K., Landgraf,D., Schubert,T., Shakiba,M.,
            Kariminejad,A. and Huebner,A.
  TITLE     Homozygous deletion of the entire AAAS gene in a triple A syndrome
            patient
  JOURNAL   Eur J Med Genet 62 (7), 103665 (2019)
   PUBMED   31071487
  REMARK    GeneRIF: A homozygous deletion of the entire AAAS gene was
            identified in a patient with triple A syndrome.
REFERENCE   4  (bases 1 to 1815)
  AUTHORS   Leveille,E., Gonorazky,H.D., Rioux,M.F., Hazrati,L.N., Ruskey,J.A.,
            Carnevale,A., Spiegelman,D., Dionne-Laporte,A., Rouleau,G.A.,
            Yoon,G. and Gan-Or,Z.
  TITLE     Triple A syndrome presenting as complicated hereditary spastic
            paraplegia
  JOURNAL   Mol Genet Genomic Med 6 (6), 1134-1139 (2018)
   PUBMED   30381913
  REMARK    GeneRIF: AAAS mutations were identified in two families with
            hereditary spastic paraplegia.
REFERENCE   5  (bases 1 to 1815)
  AUTHORS   Singh,K., Puri,R.D., Bhai,P., Arya,A.D., Chawla,G., Saxena,R. and
            Verma,I.C.
  TITLE     Clinical heterogeneity and molecular profile of triple A syndrome:
            a study of seven cases
  JOURNAL   J Pediatr Endocrinol Metab 31 (7), 799-807 (2018)
   PUBMED   29874194
  REMARK    GeneRIF: Mutation in AAAS gene is associated with triple A
            syndrome.
REFERENCE   6  (bases 1 to 1815)
  AUTHORS   Sandrini,F., Farmakidis,C., Kirschner,L.S., Wu,S.M.,
            Tullio-Pelet,A., Lyonnet,S., Metzger,D.L., Bourdony,C.J.,
            Tiosano,D., Chan,W.Y. and Stratakis,C.A.
  TITLE     Spectrum of mutations of the AAAS gene in Allgrove syndrome: lack
            of mutations in six kindreds with isolated resistance to
            corticotropin
  JOURNAL   J Clin Endocrinol Metab 86 (11), 5433-5437 (2001)
   PUBMED   11701718
REFERENCE   7  (bases 1 to 1815)
  AUTHORS   Handschug,K., Sperling,S., Yoon,S.J., Hennig,S., Clark,A.J. and
            Huebner,A.
  TITLE     Triple A syndrome is caused by mutations in AAAS, a new WD-repeat
            protein gene
  JOURNAL   Hum Mol Genet 10 (3), 283-290 (2001)
   PUBMED   11159947
REFERENCE   8  (bases 1 to 1815)
  AUTHORS   Tullio-Pelet,A., Salomon,R., Hadj-Rabia,S., Mugnier,C., de
            Laet,M.H., Chaouachi,B., Bakiri,F., Brottier,P., Cattolico,L.,
            Penet,C., Begeot,M., Naville,D., Nicolino,M., Chaussain,J.L.,
            Weissenbach,J., Munnich,A. and Lyonnet,S.
  TITLE     Mutant WD-repeat protein in triple-A syndrome
  JOURNAL   Nat Genet 26 (3), 332-335 (2000)
   PUBMED   11062474
REFERENCE   9  (bases 1 to 1815)
  AUTHORS   Shiota,C., Coffey,J., Grimsby,J., Grippo,J.F. and Magnuson,M.A.
  TITLE     Nuclear import of hepatic glucokinase depends upon glucokinase
            regulatory protein, whereas export is due to a nuclear export
            signal sequence in glucokinase
  JOURNAL   J Biol Chem 274 (52), 37125-37130 (1999)
   PUBMED   10601273
REFERENCE   10 (bases 1 to 1815)
  AUTHORS   Weber,A., Wienker,T.F., Jung,M., Easton,D., Dean,H.J.,
            Heinrichs,C., Reis,A. and Clark,A.J.
  TITLE     Linkage of the gene for the triple A syndrome to chromosome 12q13
            near the type II keratin gene cluster
  JOURNAL   Hum Mol Genet 5 (12), 2061-2066 (1996)
   PUBMED   8968764
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC393722.1 and AJ289857.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_015665.5.
            
            Summary: The protein encoded by this gene is a member of the
            WD-repeat family of regulatory proteins and may be involved in
            normal development of the peripheral and central nervous system.
            The encoded protein is part of the nuclear pore complex and is
            anchored there by NDC1. Defects in this gene are a cause of
            achalasia-addisonianism-alacrima syndrome (AAAS), also called
            triple-A syndrome or Allgrove syndrome. Two transcript variants
            encoding different isoforms have been found for this gene.
            [provided by RefSeq, Mar 2010].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer 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 :: AF226048.1, BC000659.2 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000209873.9/ ENSP00000209873.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-542               DC393722.1         19-560
            543-1815            AJ289857.1         488-1760
FEATURES             Location/Qualifiers
     source          1..1815
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.13"
     gene            1..1815
                     /gene="AAAS"
                     /gene_synonym="AAA; AAASb; ADRACALA; ADRACALIN; ALADIN;
                     GL003"
                     /note="aladin WD repeat nucleoporin"
                     /db_xref="GeneID:8086"
                     /db_xref="HGNC:HGNC:13666"
                     /db_xref="MIM:605378"
     exon            1..268
                     /gene="AAAS"
                     /gene_synonym="AAA; AAASb; ADRACALA; ADRACALIN; ALADIN;
                     GL003"
                     /inference="alignment:Splign:2.1.0"
     CDS             146..1786
                     /gene="AAAS"
                     /gene_synonym="AAA; AAASb; ADRACALA; ADRACALIN; ALADIN;
                     GL003"
                     /note="isoform 1 is encoded by transcript variant 1;
                     Allgrove, triple-A; achalasia, adrenocortical
                     insufficiency, alacrimia"
                     /codon_start=1
                     /product="aladin isoform 1"
                     /protein_id="NP_056480.1"
                     /db_xref="CCDS:CCDS8856.1"
                     /db_xref="GeneID:8086"
                     /db_xref="HGNC:HGNC:13666"
                     /db_xref="MIM:605378"
                     /translation="MCSLGLFPPPPPRGQVTLYEHNNELVTGSSYESPPPDFRGQWIN
                     LPVLQLTKDPLKTPGRLDHGTRTAFIHHREQVWKRCINIWRDVGLFGVLNEIANSEEE
                     VFEWVKTASGWALALCRWASSLHGSLFPHLSLRSEDLIAEFAQVTNWSSCCLRVFAWH
                     PHTNKFAVALLDDSVRVYNASSTIVPSLKHRLQRNVASLAWKPLSASVLAVACQSCIL
                     IWTLDPTSLSTRPSSGCAQVLSHPGHTPVTSLAWAPSGGRLLSASPVDAAIRVWDVST
                     ETCVPLPWFRGGGVTNLLWSPDGSKILATTPSAVFRVWEAQMWTCERWPTLSGRCQTG
                     CWSPDGSRLLFTVLGEPLIYSLSFPERCGEGKGCVGGAKSATIVADLSETTIQTPDGE
                     ERLGGEAHSMVWDPSGERLAVLMKGKPRVQDGKPVILLFRTRNSPVFELLPCGIIQGE
                     PGAQPQLITFHPSFNKGALLSVGWSTGRIAHIPLYFVNAQFPRFSPVLGRAQEPPAGG
                     GGSIHDLPLFTETSPTSAPWDPLPGPPPVLPHSPHSHL"
     exon            269..396
                     /gene="AAAS"
                     /gene_synonym="AAA; AAASb; ADRACALA; ADRACALIN; ALADIN;
                     GL003"
                     /inference="alignment:Splign:2.1.0"
     exon            397..452
                     /gene="AAAS"
                     /gene_synonym="AAA; AAASb; ADRACALA; ADRACALIN; ALADIN;
                     GL003"
                     /inference="alignment:Splign:2.1.0"
     exon            453..544
                     /gene="AAAS"
                     /gene_synonym="AAA; AAASb; ADRACALA; ADRACALIN; ALADIN;
                     GL003"
                     /inference="alignment:Splign:2.1.0"
     exon            545..591
                     /gene="AAAS"
                     /gene_synonym="AAA; AAASb; ADRACALA; ADRACALIN; ALADIN;
                     GL003"
                     /inference="alignment:Splign:2.1.0"
     exon            592..690
                     /gene="AAAS"
                     /gene_synonym="AAA; AAASb; ADRACALA; ADRACALIN; ALADIN;
                     GL003"
                     /inference="alignment:Splign:2.1.0"
     exon            691..834
                     /gene="AAAS"
                     /gene_synonym="AAA; AAASb; ADRACALA; ADRACALIN; ALADIN;
                     GL003"
                     /inference="alignment:Splign:2.1.0"
     exon            835..955
                     /gene="AAAS"
                     /gene_synonym="AAA; AAASb; ADRACALA; ADRACALIN; ALADIN;
                     GL003"
                     /inference="alignment:Splign:2.1.0"
     exon            956..1080
                     /gene="AAAS"
                     /gene_synonym="AAA; AAASb; ADRACALA; ADRACALIN; ALADIN;
                     GL003"
                     /inference="alignment:Splign:2.1.0"
     exon            1081..1141
                     /gene="AAAS"
                     /gene_synonym="AAA; AAASb; ADRACALA; ADRACALIN; ALADIN;
                     GL003"
                     /inference="alignment:Splign:2.1.0"
     exon            1142..1232
                     /gene="AAAS"
                     /gene_synonym="AAA; AAASb; ADRACALA; ADRACALIN; ALADIN;
                     GL003"
                     /inference="alignment:Splign:2.1.0"
     exon            1233..1326
                     /gene="AAAS"
                     /gene_synonym="AAA; AAASb; ADRACALA; ADRACALIN; ALADIN;
                     GL003"
                     /inference="alignment:Splign:2.1.0"
     exon            1327..1394
                     /gene="AAAS"
                     /gene_synonym="AAA; AAASb; ADRACALA; ADRACALIN; ALADIN;
                     GL003"
                     /inference="alignment:Splign:2.1.0"
     exon            1395..1476
                     /gene="AAAS"
                     /gene_synonym="AAA; AAASb; ADRACALA; ADRACALIN; ALADIN;
                     GL003"
                     /inference="alignment:Splign:2.1.0"
     exon            1477..1561
                     /gene="AAAS"
                     /gene_synonym="AAA; AAASb; ADRACALA; ADRACALIN; ALADIN;
                     GL003"
                     /inference="alignment:Splign:2.1.0"
     exon            1562..1815
                     /gene="AAAS"
                     /gene_synonym="AAA; AAASb; ADRACALA; ADRACALIN; ALADIN;
                     GL003"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1788..1793
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AAAS"
                     /gene_synonym="AAA; AAASb; ADRACALA; ADRACALIN; ALADIN;
                     GL003"
                     /note="hexamer: AATAAA"
     polyA_site      1815
                     /gene="AAAS"
                     /gene_synonym="AAA; AAASb; ADRACALA; ADRACALIN; ALADIN;
                     GL003"
                     /note="major polyA site"
ORIGIN      
        1 acttccgttg agttccgcct cgccgtttgt cccttgcggt acccgtccgc atacgaatct
       61 agcccgggaa ccgagttgcg ggagtgcggt ctgtgccgtt ccggccagga gtttgccgac
      121 tgcagacgtc ctgcgaaccg gcaagatgtg ctctctgggg ttgttccctc ctccaccgcc
      181 tcggggtcaa gtcaccctat atgagcacaa taacgagctg gtgacgggca gtagctatga
      241 gagcccgccc cccgacttcc ggggccagtg gatcaatctt cctgtcctac aactgacaaa
      301 ggatccccta aagacccctg gaaggctgga ccatggcaca agaactgcct tcatccatca
      361 ccgggagcaa gtgtggaaga gatgcatcaa catttggcgt gatgtgggcc tttttggggt
      421 gctaaatgaa attgcaaact cagaagaaga ggtgtttgag tgggtgaaga cggcatccgg
      481 ctgggccctg gcactctgtc gatgggcctc ttccctccat gggtccctgt tcccccatct
      541 gtctctcagg agcgaagatc tgatcgctga atttgcccaa gtcacaaatt ggtccagctg
      601 ctgcttgcgt gtctttgcat ggcaccccca caccaacaag tttgcagtgg ccctgctaga
      661 tgactcagtc cgtgtgtata atgccagcag caccatagtc ccctccctga agcaccggct
      721 gcagcgaaat gtggcgtctc tggcctggaa gccccttagt gcctctgtct tggctgtggc
      781 ctgccagagc tgcattctta tctggaccct ggaccctacc tccttgtcta cccgaccctc
      841 ttctggctgt gcccaagtgc tgtctcaccc tgggcataca cctgttacca gcttggcctg
      901 ggcccccagt ggggggcggc tgctctcagc ttcacccgtg gatgctgcta tccgggtatg
      961 ggatgtctca acagagacct gtgtccccct tccctggttc cgaggaggtg gggtgaccaa
     1021 cctgctctgg tccccagacg gcagcaaaat cctggctacc actccttcag ctgtctttcg
     1081 agtctgggag gcccagatgt ggacttgtga gaggtggcct actctatcag ggcgctgtca
     1141 gactggctgc tggagcccag atggcagccg actgctgttc actgtattgg gagagccact
     1201 gatttactcc ctgtcttttc cagaacgttg tggtgaggga aaggggtgcg ttggaggtgc
     1261 aaagtcagca acgattgtgg cagatctgtc tgagacaaca atacagacac cagatggtga
     1321 ggagaggctt gggggagagg ctcactccat ggtctgggac cccagtgggg aacgtctggc
     1381 tgtgcttatg aaaggaaagc caagggtaca ggatggtaaa ccagtcatcc tcctttttcg
     1441 cactcgaaac agccctgtgt ttgagctcct tccctgtggc attatccagg gggagccagg
     1501 agcccagccc cagctcatca ctttccatcc ttccttcaac aaaggggccc tgctcagtgt
     1561 gggctggtcc acaggccgaa ttgcccacat cccgctgtac tttgtcaatg cccagtttcc
     1621 acgttttagc ccagtgcttg ggcgggccca ggaaccccct gctgggggtg gaggctctat
     1681 tcatgacctg cccctcttta ctgagacatc cccaacctct gccccttggg accctctccc
     1741 agggccacca cctgttctgc cccactcccc acattcccac ctctaagaat aaataagttt
     1801 tccttttgtt ttcca
//
