ID   AAAS_HUMAN     STANDARD;      PRT;   546 AA.
AC   Q9NRG9; Q9NWI6; Q9UG19;
DT   28-FEB-2003 (Rel. 41, Created)
DT   28-FEB-2003 (Rel. 41, Last sequence update)
DT   15-SEP-2003 (Rel. 42, Last annotation update)
DE   Aladin (Adracalin) (GL003).
GN   AAAS OR ADRACALA.
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   SEQUENCE FROM N.A.
RX   MEDLINE=20517343; PubMed=11062474;
RA   Tullio-Pelet A., Salomon R., Hadj-Rabia S., Mugnier C., de Laet M.-H.,
RA   Chaouachi B., Bakiri F., Brottier P., Cattolico L., Penet C.,
RA   Begeot M., Naville D., Nicolino M., Chaussain J.-L., Weissenbach J.,
RA   Munnich A., Lyonnet S.;
RT   "Mutant WD-repeat protein in triple-A syndrome.";
RL   Nat. Genet. 26:332-335(2000).
RN   [2]
RP   SEQUENCE FROM N.A., AND VARIANTS AAA SYNDROME LYS-15; PRO-263 AND
RP   ARG-160.
RX   MEDLINE=21096905; PubMed=11159947;
RA   Handschug K., Sperling S., Yoon S.-J.K., Hennig S., Clark A.J.L.,
RA   Huebner A.;
RT   "Triple A syndrome is caused by mutations in AAAS, a new WD-repeat
RT   protein gene.";
RL   Hum. Mol. Genet. 10:283-290(2001).
RN   [3]
RP   SEQUENCE FROM N.A.
RC   TISSUE=Liver;
RA   Li Y., Wu T., Xu S., Ren S., Chen Z., Han Z.;
RT   "A novel gene expressed in human liver non-tumor-tissue.";
RL   Submitted (JAN-2000) to the EMBL/GenBank/DDBJ databases.
RN   [4]
RP   SEQUENCE FROM N.A.
RC   TISSUE=Adipose tissue;
RA   Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K.,
RA   Hirao M., Ohmori Y., Ota T., Suzuki Y., Obayashi M., Nishi T.,
RA   Shibahara T., Tanaka T., Nakamura Y., Isogai T., Sugano S.;
RT   "NEDO human cDNA sequencing project.";
RL   Submitted (FEB-2000) to the EMBL/GenBank/DDBJ databases.
RN   [5]
RP   SEQUENCE FROM N.A.
RC   TISSUE=Kidney;
RX   MEDLINE=22388257; PubMed=12477932;
RA   Strausberg R.L., Feingold E.A., Grouse L.H., Derge J.G.,
RA   Klausner R.D., Collins F.S., Wagner L., Shenmen C.M., Schuler G.D.,
RA   Altschul S.F., Zeeberg B., Buetow K.H., Schaefer C.F., Bhat N.K.,
RA   Hopkins R.F., Jordan H., Moore T., Max S.I., Wang J., Hsieh F.,
RA   Diatchenko L., Marusina K., Farmer A.A., Rubin G.M., Hong L.,
RA   Stapleton M., Soares M.B., Bonaldo M.F., Casavant T.L., Scheetz T.E.,
RA   Brownstein M.J., Usdin T.B., Toshiyuki S., Carninci P., Prange C.,
RA   Raha S.S., Loquellano N.A., Peters G.J., Abramson R.D., Mullahy S.J.,
RA   Bosak S.A., McEwan P.J., McKernan K.J., Malek J.A., Gunaratne P.H.,
RA   Richards S., Worley K.C., Hale S., Garcia A.M., Gay L.J., Hulyk S.W.,
RA   Villalon D.K., Muzny D.M., Sodergren E.J., Lu X., Gibbs R.A.,
RA   Fahey J., Helton E., Ketteman M., Madan A., Rodrigues S., Sanchez A.,
RA   Whiting M., Madan A., Young A.C., Shevchenko Y., Bouffard G.G.,
RA   Blakesley R.W., Touchman J.W., Green E.D., Dickson M.C.,
RA   Rodriguez A.C., Grimwood J., Schmutz J., Myers R.M., Butterfield Y.S.,
RA   Krzywinski M.I., Skalska U., Smailus D.E., Schnerch A., Schein J.E.,
RA   Jones S.J., Marra M.A.;
RT   "Generation and initial analysis of more than 15,000 full-length
RT   human and mouse cDNA sequences.";
RL   Proc. Natl. Acad. Sci. U.S.A. 99:16899-16903(2002).
RN   [6]
RP   SEQUENCE OF 210-546 FROM N.A.
RC   TISSUE=Uterus;
RA   Duesterhoeft A., Lauber J., Mewes H.-W., Gassenhuber J., Wiemann S.;
RL   Submitted (AUG-1999) to the EMBL/GenBank/DDBJ databases.
CC   -!- FUNCTION: Plays a role in the normal development of the peripheral
CC       and central nervous system.
CC   -!- TISSUE SPECIFICITY: Widely expressed. Particularly abundant
CC       expression is found in cerebellum, corpus callosum, adrenal gland,
CC       pituary gland, gatsrointestinal structures and fetal lung.
CC   -!- DISEASE: Defects in AAAS are the cause of achalasia-addisonianisn-
CC       alacrima syndrome (AAA syndrome) (also known as triple-A syndrome
CC       or Allgrove syndrome). It is an autosomal recessive disorder
CC       characterized by adreno-corticotropic hormone (ACTH)-resistant
CC       adrenal failure, achalasia of the esophageal cardia and alacrima.
CC       The syndrome is associated with variable and progressive
CC       neurological impairment involving the central, peripheral, and
CC       autonomic nervous system. Other features as palmoplantar
CC       hyperkeratosis, short stature, facial dysmorphy and osteoporosis
CC       may also be present.
CC   -!- SIMILARITY: Contains 4 WD repeats.
CC   -!- CAUTION: Ref.6 sequence differs from that shown due to a
CC       frameshift in position 367.
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DR   EMBL; AJ289841; CAC19038.1; -.
DR   EMBL; AJ289842; CAC19038.1; JOINED.
DR   EMBL; AJ289843; CAC19038.1; JOINED.
DR   EMBL; AJ289844; CAC19038.1; JOINED.
DR   EMBL; AJ289845; CAC19038.1; JOINED.
DR   EMBL; AJ289846; CAC19038.1; JOINED.
DR   EMBL; AJ289847; CAC19038.1; JOINED.
DR   EMBL; AJ289848; CAC19038.1; JOINED.
DR   EMBL; AJ289849; CAC19038.1; JOINED.
DR   EMBL; AJ289850; CAC19038.1; JOINED.
DR   EMBL; AJ289851; CAC19038.1; JOINED.
DR   EMBL; AJ289852; CAC19038.1; JOINED.
DR   EMBL; AJ289853; CAC19038.1; JOINED.
DR   EMBL; AJ289854; CAC19038.1; JOINED.
DR   EMBL; AJ289855; CAC19038.1; JOINED.
DR   EMBL; AJ289856; CAC19038.1; JOINED.
DR   EMBL; AJ297977; CAC17465.1; -.
DR   EMBL; AF226048; AAF86948.1; -.
DR   EMBL; AJ289857; CAC19017.1; -.
DR   EMBL; AK000833; BAA91394.1; -.
DR   EMBL; BC000659; AAH00659.1; -.
DR   EMBL; AL110160; CAB53665.1; ALT_FRAME.
DR   Genew; HGNC:13666; AAAS.
DR   MIM; 605378; -.
DR   MIM; 231550; -.
DR   InterPro; IPR001680; WD40.
DR   Pfam; PF00400; WD40; 4.
DR   SMART; SM00320; WD40; 4.
DR   PROSITE; PS00678; WD_REPEATS_1; 1.
DR   PROSITE; PS50082; WD_REPEATS_2; 1.
DR   PROSITE; PS50294; WD_REPEATS_REGION; 1.
DR   PROSITE; PS00342; MICROBODIES_CTER; UNKNOWN_1.
KW   Repeat; WD repeat; Disease mutation.
FT   REPEAT      149    188       WD 1.
FT   REPEAT      191    230       WD 2.
FT   REPEAT      243    282       WD 3.
FT   REPEAT      285    324       WD 4.
FT   SITE        544    546       MICROBODY TARGETING SIGNAL (POTENTIAL).
FT   VARIANT      15     15       Q -> K (IN AAA SYNDROME).
FT                                /FTId=VAR_012804.
FT   VARIANT     160    160       H -> R (IN AAA SYNDROME).
FT                                /FTId=VAR_012805.
FT   VARIANT     263    263       S -> P (IN AAA SYNDROME).
FT                                /FTId=VAR_012806.
FT   CONFLICT    122    122       S -> P (IN REF. 4).
FT   CONFLICT    135    135       R -> K (IN REF. 4).
FT   CONFLICT    479    479       I -> V (IN REF. 4).
SQ   SEQUENCE   546 AA;  59574 MW;  E0F4E7145D8C192E CRC64;
     MCSLGLFPPP PPRGQVTLYE HNNELVTGSS YESPPPDFRG QWINLPVLQL TKDPLKTPGR
     LDHGTRTAFI HHREQVWKRC INIWRDVGLF GVLNEIANSE EEVFEWVKTA SGWALALCRW
     ASSLHGSLFP HLSLRSEDLI AEFAQVTNWS SCCLRVFAWH PHTNKFAVAL LDDSVRVYNA
     SSTIVPSLKH RLQRNVASLA WKPLSASVLA VACQSCILIW TLDPTSLSTR PSSGCAQVLS
     HPGHTPVTSL AWAPSGGRLL SASPVDAAIR VWDVSTETCV PLPWFRGGGV TNLLWSPDGS
     KILATTPSAV FRVWEAQMWT CERWPTLSGR CQTGCWSPDG SRLLFTVLGE PLIYSLSFPE
     RCGEGKGCVG GAKSATIVAD LSETTIQTPD GEERLGGEAH SMVWDPSGER LAVLMKGKPR
     VQDGKPVILL FRTRNSPVFE LLPCGIIQGE PGAQPQLITF HPSFNKGALL SVGWSTGRIA
     HIPLYFVNAQ FPRFSPVLGR AQEPPAGGGG SIHDLPLFTE TSPTSAPWDP LPGPPPVLPH
     SPHSHL
//