ID   ASCL1_HUMAN             Reviewed;         236 AA.
AC   P50553; A8K3C4; Q9BQ30;
DT   01-OCT-1996, integrated into UniProtKB/Swiss-Prot.
DT   02-MAY-2002, sequence version 2.
DT   03-NOV-2009, entry version 87.
DE   RecName: Full=Achaete-scute homolog 1;
DE            Short=HASH1;
GN   Name=ASCL1; Synonyms=ASH1;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA].
RC   TISSUE=Thyroid carcinoma;
RX   MEDLINE=93296195; PubMed=8390674; DOI=10.1073/pnas.90.12.5648;
RA   Ball D.W., Azzoli C.G., Baylin S.B., Chi D., Dou S., Donis-Keller H.,
RA   Cumaraswamy A., Borges M., Nelkin B.D.;
RT   "Identification of a human achaete-scute homolog highly expressed in
RT   neuroendocrine tumors.";
RL   Proc. Natl. Acad. Sci. U.S.A. 90:5648-5652(1993).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Brain;
RX   PubMed=14702039; DOI=10.1038/ng1285;
RA   Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA   Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA   Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA   Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA   Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA   Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA   Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA   Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA   Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA   Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA   Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA   Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA   Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA   Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA   Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA   Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA   Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA   Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA   Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA   Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA   Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA   Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA   Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA   Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA   Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA   Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA   Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA   Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT   "Complete sequencing and characterization of 21,243 full-length human
RT   cDNAs.";
RL   Nat. Genet. 36:40-45(2004).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA   Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA   Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA   Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA   Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA   Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA   Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA   Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA   Venter J.C.;
RL   Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Lung;
RX   PubMed=15489334; DOI=10.1101/gr.2596504;
RG   The MGC Project Team;
RT   "The status, quality, and expansion of the NIH full-length cDNA
RT   project: the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
CC   -!- FUNCTION: May play a role at early stages of development of
CC       specific neural lineages in most regions of the CNS, and of
CC       several lineages in the PNS. Essential for the generation of
CC       olfactory and autonomic neurons. Activates transcription by
CC       binding to the E box (5'-CANNTG-3').
CC   -!- SUBUNIT: Efficient DNA binding requires dimerization with another
CC       bHLH protein. Forms a heterodimer with TCF3.
CC   -!- INTERACTION:
CC       P15923:TCF3; NbExp=1; IntAct=EBI-957042, EBI-769630;
CC       P15884:TCF4; NbExp=4; IntAct=EBI-957042, EBI-533224;
CC   -!- SUBCELLULAR LOCATION: Nucleus (Probable).
CC   -!- SIMILARITY: Contains 1 basic helix-loop-helix (bHLH) domain.
CC   -!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology
CC       and Haematology;
CC       URL="http://atlasgeneticsoncology.org/Genes/ASCL1ID713ch12q23.html";
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DR   EMBL; L08424; AAA58376.1; -; mRNA.
DR   EMBL; AK290539; BAF83228.1; -; mRNA.
DR   EMBL; CH471054; EAW97703.1; -; Genomic_DNA.
DR   EMBL; BC001638; -; NOT_ANNOTATED_CDS; mRNA.
DR   EMBL; BC002341; AAH02341.1; -; mRNA.
DR   EMBL; BC003134; AAH03134.1; -; mRNA.
DR   EMBL; BC004425; AAH04425.1; -; mRNA.
DR   EMBL; BC031299; AAH31299.1; -; mRNA.
DR   IPI; IPI00032964; -.
DR   PIR; A48279; A48279.
DR   RefSeq; NP_004307.2; -.
DR   UniGene; Hs.712544; -.
DR   IntAct; P50553; 3.
DR   STRING; P50553; -.
DR   PhosphoSite; P50553; -.
DR   Ensembl; ENST00000266744; ENSP00000266744; ENSG00000139352; Homo sapiens.
DR   GeneID; 429; -.
DR   KEGG; hsa:429; -.
DR   UCSC; uc001tjr.2; human.
DR   CTD; 429; -.
DR   GeneCards; GC12P101856; -.
DR   H-InvDB; HIX0010931; -.
DR   HGNC; HGNC:738; ASCL1.
DR   MIM; 100790; gene.
DR   Orphanet; 661; Ondine syndrome.
DR   PharmGKB; PA25038; -.
DR   HOGENOM; P50553; -.
DR   HOVERGEN; P50553; -.
DR   OMA; REHVPNG; -.
DR   NextBio; 1793; -.
DR   ArrayExpress; P50553; -.
DR   Bgee; P50553; -.
DR   CleanEx; HS_ASCL1; -.
DR   Genevestigator; P50553; -.
DR   GermOnline; ENSG00000139352; Homo sapiens.
DR   GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR   GO; GO:0005515; F:protein binding; IPI:IntAct.
DR   GO; GO:0003700; F:transcription factor activity; NAS:ProtInc.
DR   GO; GO:0006350; P:transcription; IEA:UniProtKB-KW.
DR   InterPro; IPR015660; ASH.
DR   InterPro; IPR001092; HLH_basic.
DR   InterPro; IPR011598; HLH_DNA_bd.
DR   Gene3D; G3DSA:4.10.280.10; HLH_DNA_bd; 1.
DR   PANTHER; PTHR13935; ASH; 1.
DR   Pfam; PF00010; HLH; 1.
DR   SMART; SM00353; HLH; 1.
DR   PROSITE; PS50888; HLH; 1.
PE   1: Evidence at protein level;
KW   Activator; Complete proteome; Developmental protein; Differentiation;
KW   DNA-binding; Neurogenesis; Nucleus; Polymorphism; Transcription;
KW   Transcription regulation.
FT   CHAIN         1    236       Achaete-scute homolog 1.
FT                                /FTId=PRO_0000127126.
FT   DOMAIN      132    171       Helix-loop-helix motif.
FT   DNA_BIND    121    131       Basic motif.
FT   COMPBIAS     33     47       Poly-Ala.
FT   COMPBIAS     51     62       Poly-Gln.
FT   VARIANT     158    158       E -> G (in dbSNP:rs1803157).
FT                                /FTId=VAR_013179.
FT   CONFLICT     62     62       Q -> QQQ (in Ref. 1).
SQ   SEQUENCE   236 AA;  25454 MW;  A7D784329305B49A CRC64;
     MESSAKMESG GAGQQPQPQP QQPFLPPAAC FFATAAAAAA AAAAAAAQSA QQQQQQQQQQ
     QQAPQLRPAA DGQPSGGGHK SAPKQVKRQR SSSPELMRCK RRLNFSGFGY SLPQQQPAAV
     ARRNERERNR VKLVNLGFAT LREHVPNGAA NKKMSKVETL RSAVEYIRAL QQLLDEHDAV
     SAAFQAGVLS PTISPNYSND LNSMAGSPVS SYSSDEGSYD PLSPEEQELL DFTNWF
//