LOCUS       NM_006982               1320 bp    mRNA    linear   PRI 29-APR-2013
DEFINITION  Homo sapiens ALX homeobox 1 (ALX1), mRNA.
ACCESSION   NM_006982
VERSION     NM_006982.2  GI:154813200
KEYWORDS    RefSeq.
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 1320)
  AUTHORS   Yuan,H., Kajiyama,H., Ito,S., Yoshikawa,N., Hyodo,T., Asano,E.,
            Hasegawa,H., Maeda,M., Shibata,K., Hamaguchi,M., Kikkawa,F. and
            Senga,T.
  TITLE     ALX1 induces snail expression to promote epithelial-to-mesenchymal
            transition and invasion of ovarian cancer cells
  JOURNAL   Cancer Res. 73 (5), 1581-1590 (2013)
   PUBMED   23288509
  REMARK    GeneRIF: ALX1 upregulated expression of the key EMT regulator Snail
            (SNAI1) and that it mediated EMT activation and cell invasion by
            ALX1.
REFERENCE   2  (bases 1 to 1320)
  AUTHORS   Uz,E., Alanay,Y., Aktas,D., Vargel,I., Gucer,S., Tuncbilek,G., von
            Eggeling,F., Yilmaz,E., Deren,O., Posorski,N., Ozdag,H., Liehr,T.,
            Balci,S., Alikasifoglu,M., Wollnik,B. and Akarsu,N.A.
  TITLE     Disruption of ALX1 causes extreme microphthalmia and severe facial
            clefting: expanding the spectrum of autosomal-recessive ALX-related
            frontonasal dysplasia
  JOURNAL   Am. J. Hum. Genet. 86 (5), 789-796 (2010)
   PUBMED   20451171
  REMARK    GeneRIF: Disruption of CART1 (ALX1) causes extreme microphthalmia
            and severe facial clefting.
REFERENCE   3  (bases 1 to 1320)
  AUTHORS   Lu,W., Guzman,A.R., Yang,W., Chapa,C.J., Shaw,G.M., Greene,R.M.,
            Pisano,M.M., Lammer,E.J., Finnell,R.H. and Zhu,H.
  TITLE     Genes encoding critical transcriptional activators for murine
            neural tube development and human spina bifida: a case-control
            study
  JOURNAL   BMC Med. Genet. 11, 141 (2010)
   PUBMED   20932315
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1320)
  AUTHORS   Iioka,T., Furukawa,K., Yamaguchi,A., Shindo,H., Yamashita,S. and
            Tsukazaki,T.
  TITLE     P300/CBP acts as a coactivator to cartilage homeoprotein-1 (Cart1),
            paired-like homeoprotein, through acetylation of the conserved
            lysine residue adjacent to the homeodomain
  JOURNAL   J. Bone Miner. Res. 18 (8), 1419-1429 (2003)
   PUBMED   12929931
REFERENCE   5  (bases 1 to 1320)
  AUTHORS   Qu,S., Tucker,S.C., Zhao,Q., deCrombrugghe,B. and Wisdom,R.
  TITLE     Physical and genetic interactions between Alx4 and Cart1
  JOURNAL   Development 126 (2), 359-369 (1999)
   PUBMED   9847249
REFERENCE   6  (bases 1 to 1320)
  AUTHORS   Cai,R.L.
  TITLE     Human CART1, a paired-class homeodomain protein, activates
            transcription through palindromic binding sites
  JOURNAL   Biochem. Biophys. Res. Commun. 250 (2), 305-311 (1998)
   PUBMED   9753625
REFERENCE   7  (bases 1 to 1320)
  AUTHORS   Gordon,D.F., Wagner,J., Atkinson,B.L., Chiono,M., Berry,R.,
            Sikela,J. and Gutierrez-Hartmann,A.
  TITLE     Human Cart-1: structural organization, chromosomal localization,
            and functional analysis of a cartilage-specific homeodomain cDNA
  JOURNAL   DNA Cell Biol. 15 (7), 531-541 (1996)
   PUBMED   8756334
REFERENCE   8  (bases 1 to 1320)
  AUTHORS   Zhao,Q., Behringer,R.R. and de Crombrugghe,B.
  TITLE     Prenatal folic acid treatment suppresses acrania and
            meroanencephaly in mice mutant for the Cart1 homeobox gene
  JOURNAL   Nat. Genet. 13 (3), 275-283 (1996)
   PUBMED   8673125
REFERENCE   9  (bases 1 to 1320)
  AUTHORS   Regnier,C.H., Tomasetto,C., Moog-Lutz,C., Chenard,M.P.,
            Wendling,C., Basset,P. and Rio,M.C.
  TITLE     Presence of a new conserved domain in CART1, a novel member of the
            tumor necrosis factor receptor-associated protein family, which is
            expressed in breast carcinoma
  JOURNAL   J. Biol. Chem. 270 (43), 25715-25721 (1995)
   PUBMED   7592751
REFERENCE   10 (bases 1 to 1320)
  AUTHORS   Zhao,G.Q., Zhou,X., Eberspaecher,H., Solursh,M. and de
            Crombrugghe,B.
  TITLE     Cartilage homeoprotein 1, a homeoprotein selectively expressed in
            chondrocytes
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 90 (18), 8633-8637 (1993)
   PUBMED   7690966
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC010923.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Aug 7, 2007 this sequence version replaced gi:5901917.
            
            Summary: The specific function of this gene has yet to be
            determined in humans; however,  in rodents, it is necessary for
            survival of the forebrain mesenchyme and may  also be involved in
            development of the cervix.  Mutations in the mouse gene lead  to
            neural tube defects such as acrania and meroanencephaly. [provided
            by RefSeq, Jul 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC010923.1, U31986.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025088 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1320              BC010923.1         7-1326
FEATURES             Location/Qualifiers
     source          1..1320
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q21.31"
     gene            1..1320
                     /gene="ALX1"
                     /gene_synonym="CART1; FND3"
                     /note="ALX homeobox 1"
                     /db_xref="GeneID:8092"
                     /db_xref="HGNC:1494"
                     /db_xref="MIM:601527"
     exon            1..230
                     /gene="ALX1"
                     /gene_synonym="CART1; FND3"
                     /inference="alignment:Splign:1.39.8"
     CDS             5..985
                     /gene="ALX1"
                     /gene_synonym="CART1; FND3"
                     /note="cartilage paired-class homeoprotein 1; CART-1"
                     /codon_start=1
                     /product="ALX homeobox protein 1"
                     /protein_id="NP_008913.2"
                     /db_xref="GI:154813201"
                     /db_xref="CCDS:CCDS9028.1"
                     /db_xref="GeneID:8092"
                     /db_xref="HGNC:1494"
                     /db_xref="MIM:601527"
                     /translation="

MEFLSEKFALKSPPSKNSDFYMGAGGPLEHVMETLDNESFYSKASAGKCVQAFGPLPRAEHHVRLERTSPCQDSSVNYGITKVEGQPLHTELNRAMDNCNSLRMSPVKGMQEKGELDELGDKCDSNVSSSKKRRHRTTFTSLQLEELEKVFQKTHYPDVYVREQLALRTELTEARVQVWFQNRRAKWRKRERYGQIQQAKSHFAATYDISVLPRTDSYPQIQNNLWAGNASGGSVVTSCMLPRDTSSCMTPYSHSPRTDSSYTGFSNHQNQFSHVPLNNFFTDSLLTGATNGHAFETKPEFERRSSSIAVLRMKAKEHTANISWAM

"
     misc_feature    296..655
                     /gene="ALX1"
                     /gene_synonym="CART1; FND3"
                     /note="Homeodomain-containing transcription factor
                     [Transcription]; Region: COG5576"
                     /db_xref="CDD:35135"
     misc_feature    401..577
                     /gene="ALX1"
                     /gene_synonym="CART1; FND3"
                     /note="Homeodomain;  DNA binding domains involved in the
                     transcriptional regulation of key eukaryotic developmental
                     processes; may bind to DNA as monomers or as homo- and/or
                     heterodimers, in a sequence-specific manner; Region:
                     homeodomain; cd00086"
                     /db_xref="CDD:28970"
     misc_feature    order(401..415,419..421,470..472,488..490,527..529,
                     533..538,545..550,554..562,566..571)
                     /gene="ALX1"
                     /gene_synonym="CART1; FND3"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:28970"
     misc_feature    order(407..409,416..418,536..538,545..550,557..559)
                     /gene="ALX1"
                     /gene_synonym="CART1; FND3"
                     /note="specific DNA base contacts [nucleotide binding];
                     other site"
                     /db_xref="CDD:28970"
     misc_feature    908..967
                     /gene="ALX1"
                     /gene_synonym="CART1; FND3"
                     /note="OAR domain; Region: OAR; pfam03826"
                     /db_xref="CDD:146451"
     misc_feature    920..961
                     /gene="ALX1"
                     /gene_synonym="CART1; FND3"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15699.2);
                     Region: OAR"
     variation       28
                     /gene="ALX1"
                     /gene_synonym="CART1; FND3"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:370293266"
     variation       30
                     /gene="ALX1"
                     /gene_synonym="CART1; FND3"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:376214478"
     variation       52
                     /gene="ALX1"
                     /gene_synonym="CART1; FND3"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:116409037"
     variation       84
                     /gene="ALX1"
                     /gene_synonym="CART1; FND3"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:201314651"
     variation       104
                     /gene="ALX1"
                     /gene_synonym="CART1; FND3"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:368906149"
     variation       113
                     /gene="ALX1"
                     /gene_synonym="CART1; FND3"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:372544988"
     variation       116
                     /gene="ALX1"
                     /gene_synonym="CART1; FND3"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:376329142"
     variation       118
                     /gene="ALX1"
                     /gene_synonym="CART1; FND3"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:369826150"
     variation       129
                     /gene="ALX1"
                     /gene_synonym="CART1; FND3"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:148136812"
     variation       151
                     /gene="ALX1"
                     /gene_synonym="CART1; FND3"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:141968055"
     variation       153
                     /gene="ALX1"
                     /gene_synonym="CART1; FND3"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:150692244"
     variation       169
                     /gene="ALX1"
                     /gene_synonym="CART1; FND3"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:375614518"
     variation       170
                     /gene="ALX1"
                     /gene_synonym="CART1; FND3"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:368289293"
     variation       176
                     /gene="ALX1"
                     /gene_synonym="CART1; FND3"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:138946669"
     variation       186
                     /gene="ALX1"
                     /gene_synonym="CART1; FND3"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:115440539"
     variation       194
                     /gene="ALX1"
                     /gene_synonym="CART1; FND3"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:145944049"
     variation       195
                     /gene="ALX1"
                     /gene_synonym="CART1; FND3"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:115596276"
     exon            231..535
                     /gene="ALX1"
                     /gene_synonym="CART1; FND3"
                     /inference="alignment:Splign:1.39.8"
     variation       241
                     /gene="ALX1"
                     /gene_synonym="CART1; FND3"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:143246153"
     variation       270
                     /gene="ALX1"
                     /gene_synonym="CART1; FND3"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:75478848"
     variation       300
                     /gene="ALX1"
                     /gene_synonym="CART1; FND3"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:200647810"
     variation       302
                     /gene="ALX1"
                     /gene_synonym="CART1; FND3"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:369322898"
     variation       345
                     /gene="ALX1"
                     /gene_synonym="CART1; FND3"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:374720581"
     variation       360
                     /gene="ALX1"
                     /gene_synonym="CART1; FND3"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:148452184"
     variation       361
                     /gene="ALX1"
                     /gene_synonym="CART1; FND3"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:141779263"
     variation       364
                     /gene="ALX1"
                     /gene_synonym="CART1; FND3"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:201685545"
     variation       383
                     /gene="ALX1"
                     /gene_synonym="CART1; FND3"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:142639950"
     variation       403
                     /gene="ALX1"
                     /gene_synonym="CART1; FND3"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:377532063"
     variation       418
                     /gene="ALX1"
                     /gene_synonym="CART1; FND3"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:369486956"
     variation       511
                     /gene="ALX1"
                     /gene_synonym="CART1; FND3"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:115154507"
     variation       520
                     /gene="ALX1"
                     /gene_synonym="CART1; FND3"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:373644921"
     exon            536..664
                     /gene="ALX1"
                     /gene_synonym="CART1; FND3"
                     /inference="alignment:Splign:1.39.8"
     variation       551
                     /gene="ALX1"
                     /gene_synonym="CART1; FND3"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:150997122"
     variation       580
                     /gene="ALX1"
                     /gene_synonym="CART1; FND3"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:140886664"
     variation       600
                     /gene="ALX1"
                     /gene_synonym="CART1; FND3"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:144593505"
     variation       601
                     /gene="ALX1"
                     /gene_synonym="CART1; FND3"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:79907632"
     variation       634
                     /gene="ALX1"
                     /gene_synonym="CART1; FND3"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:115409839"
     variation       662
                     /gene="ALX1"
                     /gene_synonym="CART1; FND3"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:112505557"
     exon            665..1294
                     /gene="ALX1"
                     /gene_synonym="CART1; FND3"
                     /inference="alignment:Splign:1.39.8"
     variation       665
                     /gene="ALX1"
                     /gene_synonym="CART1; FND3"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:79870572"
     variation       683
                     /gene="ALX1"
                     /gene_synonym="CART1; FND3"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:375150228"
     variation       711
                     /gene="ALX1"
                     /gene_synonym="CART1; FND3"
                     /replace=""
                     /replace="t"
                     /db_xref="dbSNP:148810886"
     variation       713
                     /gene="ALX1"
                     /gene_synonym="CART1; FND3"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:368441255"
     variation       732
                     /gene="ALX1"
                     /gene_synonym="CART1; FND3"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:116431888"
     variation       786
                     /gene="ALX1"
                     /gene_synonym="CART1; FND3"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:371574280"
     variation       857
                     /gene="ALX1"
                     /gene_synonym="CART1; FND3"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:147059932"
     variation       929
                     /gene="ALX1"
                     /gene_synonym="CART1; FND3"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:201582242"
     variation       931
                     /gene="ALX1"
                     /gene_synonym="CART1; FND3"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:199827292"
     variation       957
                     /gene="ALX1"
                     /gene_synonym="CART1; FND3"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:79265723"
     variation       977
                     /gene="ALX1"
                     /gene_synonym="CART1; FND3"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:371842650"
     variation       980
                     /gene="ALX1"
                     /gene_synonym="CART1; FND3"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:138244335"
     variation       982
                     /gene="ALX1"
                     /gene_synonym="CART1; FND3"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:373533707"
     STS             1068..1204
                     /gene="ALX1"
                     /gene_synonym="CART1; FND3"
                     /standard_name="STS-N20106"
                     /db_xref="UniSTS:55859"
     variation       1123
                     /gene="ALX1"
                     /gene_synonym="CART1; FND3"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:187619778"
     polyA_signal    1276..1281
                     /gene="ALX1"
                     /gene_synonym="CART1; FND3"
     polyA_site      1294
                     /gene="ALX1"
                     /gene_synonym="CART1; FND3"
ORIGIN      

gattatggagtttctgagcgagaagtttgccctcaagagccctccgagtaaaaacagtgacttttacatgggcgcaggaggtcctctggagcacgttatggagacgctggacaatgagtccttttacagcaaagcgtctgcaggcaaatgcgtgcaggccttcggacccctgccccgcgccgagcatcacgtgcgcttggagaggacctcgccctgtcaggacagcagcgtgaactatgggatcactaaagtagaaggacagccccttcacaccgaactgaatagagctatggacaactgtaacagtctccgaatgtctcccgtgaaagggatgcaagagaagggagagctggatgaacttggggataaatgtgatagcaatgtatccagcagtaagaaacggaggcaccgaaccaccttcaccagtttgcagctagaggagctggagaaagtctttcagaaaactcattacccggatgtgtatgtcagagaacagcttgctctgaggacagagctcactgaggccagggtccaggtttggtttcaaaatcgaagggccaaatggagaaaaagggaacgttatggccaaatacaacaagcgaaaagccattttgctgccacctatgatatatcagttttgccaaggactgacagctacccacagattcagaacaatttgtgggcaggaaatgcaagtggtggttctgtggttacttcatgcatgttaccacgtgacacttcctcctgtatgacaccttattctcactcgcctcggacagattccagttacacggggttttcaaaccaccagaaccagttcagccacgtgcccctcaacaattttttcactgactctcttcttactggggcaaccaatggacatgcatttgaaacaaagccagagtttgaaaggaggtcttccagtatcgcagttcttcgaatgaaagccaaggagcacaccgccaatatttcatgggccatgtaacatacagtactcttttatttttcttttaatagcaaagttaaacattcttatttctcatatttaaaggataccacaataagctgctgtgtgtggaattgctaaaggtcaagatattcagtgagaccagcttaaatgaatagttgttatttaacattaaaatctaagaatgaacctctgaaaagactaaataggtttaccatgtgccagtctccacaaaccctgttttagtagtaaggttttctttttctattgtacaagtcaatgaaatatgatcacgcaacttattaaagaataaatgtgttaaacaaaaaaaaaaaaaaaaaaaaaaaaaaaaa

//

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:8092 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: IEA
            GeneID:8092 -> Molecular function: GO:0003714 [transcription corepressor activity] evidence: TAS
            GeneID:8092 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
            GeneID:8092 -> Molecular function: GO:0043565 [sequence-specific DNA binding] evidence: IEA
            GeneID:8092 -> Molecular function: GO:0046982 [protein heterodimerization activity] evidence: IEA
            GeneID:8092 -> Biological process: GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] evidence: IDA
            GeneID:8092 -> Biological process: GO:0001502 [cartilage condensation] evidence: TAS
            GeneID:8092 -> Biological process: GO:0001843 [neural tube closure] evidence: IEA
            GeneID:8092 -> Biological process: GO:0006366 [transcription from RNA polymerase II promoter] evidence: TAS
            GeneID:8092 -> Biological process: GO:0007275 [multicellular organismal development] evidence: TAS
            GeneID:8092 -> Biological process: GO:0007420 [brain development] evidence: TAS
            GeneID:8092 -> Biological process: GO:0009952 [anterior/posterior pattern specification] evidence: IEA
            GeneID:8092 -> Biological process: GO:0014031 [mesenchymal cell development] evidence: IEA
            GeneID:8092 -> Biological process: GO:0030326 [embryonic limb morphogenesis] evidence: IEA
            GeneID:8092 -> Biological process: GO:0045893 [positive regulation of transcription, DNA-dependent] evidence: IDA
            GeneID:8092 -> Biological process: GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] evidence: IEA
            GeneID:8092 -> Biological process: GO:0048704 [embryonic skeletal system morphogenesis] evidence: IEA
            GeneID:8092 -> Biological process: GO:0060021 [palate development] evidence: IEA
            GeneID:8092 -> Cellular component: GO:0005634 [nucleus] evidence: IDA
            GeneID:8092 -> Cellular component: GO:0005667 [transcription factor complex] evidence: IEA