LOCUS       NM_006982               1332 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens ALX homeobox 1 (ALX1), mRNA.
ACCESSION   NM_006982
VERSION     NM_006982.3
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 1332)
  AUTHORS   Ni,J., Tian,W., Liang,S., Wang,H. and Ren,Y.
  TITLE     Promoter Methylation-mediated Silencing of the MiR-192-5p Promotes
            Endometrial Cancer Progression by Targeting ALX1
  JOURNAL   Int J Med Sci 18 (12), 2510-2520 (2021)
   PUBMED   34104082
  REMARK    GeneRIF: Promoter Methylation-mediated Silencing of the MiR-192-5p
            Promotes Endometrial Cancer Progression by Targeting ALX1.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1332)
  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   3  (bases 1 to 1332)
  AUTHORS   Jiao,J.X., Jiao,L.J., Yang,S. and Zhao,Y.J.
  TITLE     Knockdown of aristaless-like homeobox1 inhibits
            epithelial-mesenchymal transition through Wnt/beta-catenin
            signaling pathway in melanoma cells
  JOURNAL   Biochem Biophys Res Commun 511 (1), 105-110 (2019)
   PUBMED   30773258
  REMARK    GeneRIF: ALX1 is highly expressed in human melanoma tissues and
            cell lines. Knockdown of ALX1 suppressed the proliferation and
            invasion of melanoma cells.
REFERENCE   4  (bases 1 to 1332)
  AUTHORS   Aksorn,N., Roytrakul,S., Kittisenachai,S., Leelawat,K.,
            Chanvorachote,P., Topanurak,S., Hamano,S. and Lek-Uthai,U.
  TITLE     Novel Potential Biomarkers for Opisthorchis viverrini Infection and
            Associated Cholangiocarcinoma
  JOURNAL   In Vivo 32 (4), 871-878 (2018)
   PUBMED   29936472
  REMARK    GeneRIF: According to our analysis, three proteins, namely
            aristaless-like homeobox1 isoform X1 (ALX1), major
            histocompatibility complex polypeptide-related sequence A (MICA),
            and uncharacterized protein C14orf105 isoform X12 were found to be
            potential markers for Opisthorchis viverrini (OV)- infection, as
            they were predominantly found in all OV-infected groups
REFERENCE   5  (bases 1 to 1332)
  AUTHORS   Yin,Y., Morgunova,E., Jolma,A., Kaasinen,E., Sahu,B.,
            Khund-Sayeed,S., Das,P.K., Kivioja,T., Dave,K., Zhong,F.,
            Nitta,K.R., Taipale,M., Popov,A., Ginno,P.A., Domcke,S., Yan,J.,
            Schubeler,D., Vinson,C. and Taipale,J.
  TITLE     Impact of cytosine methylation on DNA binding specificities of
            human transcription factors
  JOURNAL   Science 356 (6337) (2017)
   PUBMED   28473536
REFERENCE   6  (bases 1 to 1332)
  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 1332)
  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 1332)
  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 1332)
  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 1332)
  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 AC133794.2 and BC010923.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_006982.2.
            
            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].
            
            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 :: SRR5189658.120849.1, U31986.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145245, SAMEA2145774
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000316824.4/ ENSP00000315417.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-38                AC133794.2         13092-13129         c
            39-1332             BC010923.1         7-1300
FEATURES             Location/Qualifiers
     source          1..1332
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q21.31"
     gene            1..1332
                     /gene="ALX1"
                     /gene_synonym="CART1; FND3; HEL23"
                     /note="ALX homeobox 1"
                     /db_xref="GeneID:8092"
                     /db_xref="HGNC:HGNC:1494"
                     /db_xref="MIM:601527"
     exon            1..268
                     /gene="ALX1"
                     /gene_synonym="CART1; FND3; HEL23"
                     /inference="alignment:Splign:2.1.0"
     CDS             43..1023
                     /gene="ALX1"
                     /gene_synonym="CART1; FND3; HEL23"
                     /note="cartilage paired-class homeoprotein 1; CART-1;
                     epididymis luminal protein 23"
                     /codon_start=1
                     /product="ALX homeobox protein 1"
                     /protein_id="NP_008913.2"
                     /db_xref="CCDS:CCDS9028.1"
                     /db_xref="GeneID:8092"
                     /db_xref="HGNC:HGNC:1494"
                     /db_xref="MIM:601527"
                     /translation="MEFLSEKFALKSPPSKNSDFYMGAGGPLEHVMETLDNESFYSKA
                     SAGKCVQAFGPLPRAEHHVRLERTSPCQDSSVNYGITKVEGQPLHTELNRAMDNCNSL
                     RMSPVKGMQEKGELDELGDKCDSNVSSSKKRRHRTTFTSLQLEELEKVFQKTHYPDVY
                     VREQLALRTELTEARVQVWFQNRRAKWRKRERYGQIQQAKSHFAATYDISVLPRTDSY
                     PQIQNNLWAGNASGGSVVTSCMLPRDTSSCMTPYSHSPRTDSSYTGFSNHQNQFSHVP
                     LNNFFTDSLLTGATNGHAFETKPEFERRSSSIAVLRMKAKEHTANISWAM"
     exon            269..573
                     /gene="ALX1"
                     /gene_synonym="CART1; FND3; HEL23"
                     /inference="alignment:Splign:2.1.0"
     exon            574..702
                     /gene="ALX1"
                     /gene_synonym="CART1; FND3; HEL23"
                     /inference="alignment:Splign:2.1.0"
     exon            703..1332
                     /gene="ALX1"
                     /gene_synonym="CART1; FND3; HEL23"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1314..1319
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALX1"
                     /gene_synonym="CART1; FND3; HEL23"
                     /note="hexamer: AATAAA"
     polyA_site      1332
                     /gene="ALX1"
                     /gene_synonym="CART1; FND3; HEL23"
                     /note="major polyA site"
ORIGIN      
        1 agtttctgtg ccccaggagc tacgcgacag tcttccagga ttatggagtt tctgagcgag
       61 aagtttgccc tcaagagccc tccgagtaaa aacagtgact tttacatggg cgcaggaggt
      121 cctctggagc acgttatgga gacgctggac aatgagtcct tttacagcaa agcgtctgca
      181 ggcaaatgcg tgcaggcctt cggacccctg ccccgcgccg agcatcacgt gcgcttggag
      241 aggacctcgc cctgtcagga cagcagcgtg aactatggga tcactaaagt agaaggacag
      301 ccccttcaca ccgaactgaa tagagctatg gacaactgta acagtctccg aatgtctccc
      361 gtgaaaggga tgcaagagaa gggagagctg gatgaacttg gggataaatg tgatagcaat
      421 gtatccagca gtaagaaacg gaggcaccga accaccttca ccagtttgca gctagaggag
      481 ctggagaaag tctttcagaa aactcattac ccggatgtgt atgtcagaga acagcttgct
      541 ctgaggacag agctcactga ggccagggtc caggtttggt ttcaaaatcg aagggccaaa
      601 tggagaaaaa gggaacgtta tggccaaata caacaagcga aaagccattt tgctgccacc
      661 tatgatatat cagttttgcc aaggactgac agctacccac agattcagaa caatttgtgg
      721 gcaggaaatg caagtggtgg ttctgtggtt acttcatgca tgttaccacg tgacacttcc
      781 tcctgtatga caccttattc tcactcgcct cggacagatt ccagttacac ggggttttca
      841 aaccaccaga accagttcag ccacgtgccc ctcaacaatt ttttcactga ctctcttctt
      901 actggggcaa ccaatggaca tgcatttgaa acaaagccag agtttgaaag gaggtcttcc
      961 agtatcgcag ttcttcgaat gaaagccaag gagcacaccg ccaatatttc atgggccatg
     1021 taacatacag tactctttta tttttctttt aatagcaaag ttaaacattc ttatttctca
     1081 tatttaaagg ataccacaat aagctgctgt gtgtggaatt gctaaaggtc aagatattca
     1141 gtgagaccag cttaaatgaa tagttgttat ttaacattaa aatctaagaa tgaacctctg
     1201 aaaagactaa ataggtttac catgtgccag tctccacaaa ccctgtttta gtagtaaggt
     1261 tttctttttc tattgtacaa gtcaatgaaa tatgatcacg caacttatta aagaataaat
     1321 gtgttaaaca aa
//
