LOCUS       NM_003502               3707 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens axin 1 (AXIN1), transcript variant 1, mRNA.
ACCESSION   NM_003502
VERSION     NM_003502.4
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 3707)
  AUTHORS   Li,Q., Lin,G., Zhang,K., Liu,X., Li,Z., Bing,X., Nie,Z., Jin,S.,
            Guo,J. and Min,X.
  TITLE     Hypoxia exposure induces lactylation of Axin1 protein to promote
            glycolysis of esophageal carcinoma cells
  JOURNAL   Biochem Pharmacol 226, 116415 (2024)
   PUBMED   38972426
  REMARK    GeneRIF: Hypoxia exposure induces lactylation of Axin1 protein to
            promote glycolysis of esophageal carcinoma cells.
REFERENCE   2  (bases 1 to 3707)
  AUTHORS   Dogan,G., Yilmaz,A., Ipek,H., Metin,M., Peltek Kendirci,H.N. and
            Afsarlar,C.E.
  TITLE     Investigating AXIN1 gene polymorphisms in Turkish children with
            cryptorchidism: A pilot study
  JOURNAL   J Pediatr Urol 20 (4), 748 (2024)
   PUBMED   38880668
  REMARK    GeneRIF: Investigating AXIN1 gene polymorphisms in Turkish children
            with cryptorchidism: A pilot study.
REFERENCE   3  (bases 1 to 3707)
  AUTHORS   Timberlake,A.T., Hemal,K., Gustafson,J.A., Hao,L.T., Valenzuela,I.,
            Slavotinek,A., Cunningham,M.L., Kahle,K.T., Lifton,R.P. and
            Persing,J.A.
  TITLE     AXIN1 mutations in nonsyndromic craniosynostosis
  JOURNAL   J Neurosurg Pediatr 34 (3), 246-251 (2024)
   PUBMED   38905707
  REMARK    GeneRIF: AXIN1 mutations in nonsyndromic craniosynostosis.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3707)
  AUTHORS   Zhang,R., Li,S., Schippers,K., Eimers,B., Niu,J., Hornung,B.V.H.,
            van den Hout,M.C.G.N., van Ijcken,W.F.J., Peppelenbosch,M.P. and
            Smits,R.
  TITLE     Unraveling the impact of AXIN1 mutations on HCC development:
            Insights from CRISPR/Cas9 repaired AXIN1-mutant liver cancer cell
            lines
  JOURNAL   PLoS One 19 (6), e0304607 (2024)
   PUBMED   38848383
  REMARK    GeneRIF: Unraveling the impact of AXIN1 mutations on HCC
            development: Insights from CRISPR/Cas9 repaired AXIN1-mutant liver
            cancer cell lines.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3707)
  AUTHORS   Yang,B., Chen,W., Tao,T., Zhang,J., Kong,D., Hao,J., Yu,C., Liao,G.
            and Gong,H.
  TITLE     UBE2N promotes cell viability and glycolysis by promoting Axin1
            ubiquitination in prostate cancer cells
  JOURNAL   Biol Direct 19 (1), 35 (2024)
   PUBMED   38715121
  REMARK    GeneRIF: UBE2N promotes cell viability and glycolysis by promoting
            Axin1 ubiquitination in prostate cancer cells.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3707)
  AUTHORS   Hart,M.J., de los Santos,R., Albert,I.N., Rubinfeld,B. and
            Polakis,P.
  TITLE     Downregulation of beta-catenin by human Axin and its association
            with the APC tumor suppressor, beta-catenin and GSK3 beta
  JOURNAL   Curr Biol 8 (10), 573-581 (1998)
   PUBMED   9601641
REFERENCE   7  (bases 1 to 3707)
  AUTHORS   Ikeda,S., Kishida,S., Yamamoto,H., Murai,H., Koyama,S. and
            Kikuchi,A.
  TITLE     Axin, a negative regulator of the Wnt signaling pathway, forms a
            complex with GSK-3beta and beta-catenin and promotes
            GSK-3beta-dependent phosphorylation of beta-catenin
  JOURNAL   EMBO J 17 (5), 1371-1384 (1998)
   PUBMED   9482734
REFERENCE   8  (bases 1 to 3707)
  AUTHORS   Vasicek,T.J., Zeng,L., Guan,X.J., Zhang,T., Costantini,F. and
            Tilghman,S.M.
  TITLE     Two dominant mutations in the mouse fused gene are the result of
            transposon insertions
  JOURNAL   Genetics 147 (2), 777-786 (1997)
   PUBMED   9335612
REFERENCE   9  (bases 1 to 3707)
  AUTHORS   Zeng,L., Fagotto,F., Zhang,T., Hsu,W., Vasicek,T.J., Perry,W.L.
            3rd, Lee,J.J., Tilghman,S.M., Gumbiner,B.M. and Costantini,F.
  TITLE     The mouse Fused locus encodes Axin, an inhibitor of the Wnt
            signaling pathway that regulates embryonic axis formation
  JOURNAL   Cell 90 (1), 181-192 (1997)
   PUBMED   9230313
REFERENCE   10 (bases 1 to 3707)
  AUTHORS   Flint,J., Thomas,K., Micklem,G., Raynham,H., Clark,K.,
            Doggett,N.A., King,A. and Higgs,D.R.
  TITLE     The relationship between chromosome structure and function at a
            human telomeric region
  JOURNAL   Nat Genet 15 (3), 252-257 (1997)
   PUBMED   9054936
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005202.1, DB460285.1,
            AF009674.1, Z99754.1, Z69667.1 and BC035872.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_003502.3.
            
            Summary: This gene encodes a cytoplasmic protein which contains a
            regulation of G-protein signaling (RGS) domain and a dishevelled
            and axin (DIX) domain. The encoded protein interacts with
            adenomatosis polyposis coli, catenin beta-1, glycogen synthase
            kinase 3 beta, protein phosphate 2, and itself. This protein
            functions as a negative regulator of the wingless-type MMTV
            integration site family, member 1 (WNT) signaling pathway and can
            induce apoptosis. The crystal structure of a portion of this
            protein, alone and in a complex with other proteins, has been
            resolved. Mutations in this gene have been associated with
            hepatocellular carcinoma, hepatoblastomas, ovarian endometriod
            adenocarcinomas, and medullablastomas. Alternative splicing results
            in multiple transcript variants. [provided by RefSeq, Jan 2016].
            
            Transcript Variant: This variant (1) represents the longer
            transcript, and encodes the longer isoform (a). An upstream
            in-frame AUG is present that could extend the N-terminus of this
            isoform by 49 aa; however, there is no evidence that the upstream
            AUG is used, so the shorter N-terminus is being annotated.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: AF009674.1, SRR11853565.10276.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: lack of evidence for use of
                                                upstream AUG
            MANE Ensembl match               :: ENST00000262320.8/
                                                ENSP00000262320.3
            RefSeq Select criteria           :: based on conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-47                AC005202.1         24506-24552         c
            48-294              DB460285.1         3-249
            295-300             AC005202.1         24253-24258         c
            301-324             DB460285.1         255-278
            325-417             AF009674.1         1-93
            418-1198            AC005202.1         18093-18873         c
            1199-1514           AF009674.1         875-1190
            1515-1515           Z99754.1           16157-16157         c
            1516-1787           AF009674.1         1192-1463
            1788-1880           Z99754.1           4209-4301           c
            1881-2235           AF009674.1         1560-1914
            2236-2236           Z99754.1           3358-3358           c
            2237-2436           AF009674.1         1916-2115
            2437-2437           Z69667.1           31273-31273         c
            2438-3396           AF009674.1         2117-3075
            3397-3456           Z69667.1           25291-25350         c
            3457-3707           BC035872.1         2451-2701
FEATURES             Location/Qualifiers
     source          1..3707
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     gene            1..3707
                     /gene="AXIN1"
                     /gene_synonym="AXIN; CMDOH; PPP1R49"
                     /note="axin 1"
                     /db_xref="GeneID:8312"
                     /db_xref="HGNC:HGNC:903"
                     /db_xref="MIM:603816"
     exon            1..355
                     /gene="AXIN1"
                     /gene_synonym="AXIN; CMDOH; PPP1R49"
                     /inference="alignment:Splign:2.1.0"
     exon            356..1314
                     /gene="AXIN1"
                     /gene_synonym="AXIN; CMDOH; PPP1R49"
                     /inference="alignment:Splign:2.1.0"
     CDS             437..3025
                     /gene="AXIN1"
                     /gene_synonym="AXIN; CMDOH; PPP1R49"
                     /note="isoform a is encoded by transcript variant 1; axis
                     inhibitor 1; fused, mouse, homolog of; axis inhibition
                     protein 1; protein phosphatase 1, regulatory subunit 49"
                     /codon_start=1
                     /product="axin-1 isoform a"
                     /protein_id="NP_003493.1"
                     /db_xref="CCDS:CCDS10405.1"
                     /db_xref="GeneID:8312"
                     /db_xref="HGNC:HGNC:903"
                     /db_xref="MIM:603816"
                     /translation="MNIQEQGFPLDLGASFTEDAPRPPVPGEEGELVSTDPRPASYSF
                     CSGKGVGIKGETSTATPRRSDLDLGYEPEGSASPTPPYLKWAESLHSLLDDQDGISLF
                     RTFLKQEGCADLLDFWFACTGFRKLEPCDSNEEKRLKLARAIYRKYILDNNGIVSRQT
                     KPATKSFIKGCIMKQLIDPAMFDQAQTEIQATMEENTYPSFLKSDIYLEYTRTGSESP
                     KVCSDQSSGSGTGKGISGYLPTLNEDEEWKCDQDMDEDDGRDAAPPGRLPQKLLLETA
                     APRVSSSRRYSEGREFRYGSWREPVNPYYVNAGYALAPATSANDSEQQSLSSDADTLS
                     LTDSSVDGIPPYRIRKQHRREMQESVQVNGRVPLPHIPRTYRVPKEVRVEPQKFAEEL
                     IHRLEAVQRTREAEEKLEERLKRVRMEEEGEDGDPSSGPPGPCHKLPPAPAWHHFPPR
                     CVDMGCAGLRDAHEENPESILDEHVQRVLRTPGRQSPGPGHRSPDSGHVAKMPVALGG
                     AASGHGKHVPKSGAKLDAAGLHHHRHVHHHVHHSTARPKEQVEAEATRRAQSSFAWGL
                     EPHSHGARSRGYSESVGAAPNASDGLAHSGKVGVACKRNAKKAESGKSASTEVPGASE
                     DAEKNQKIMQWIIEGEKEISRHRRTGHGSSGTRKPQPHENSRPLSLEHPWAGPQLRTS
                     VQPSHLFIQDPTMPPHPAPNPLTQLEEARRRLEEEEKRASRAPSKQRYVQEVMRRGRA
                     CVRPACAPVLHVVPAVSDMELSETETRSQRKVGGGSAQPCDSIVVAYYFCGEPIPYRT
                     LVRGRAVTLGQFKELLTKKGSYRYYFKKVSDEFDCGVVFEEVREDEAVLPVFEEKIIG
                     KVEKVD"
     exon            1315..1455
                     /gene="AXIN1"
                     /gene_synonym="AXIN; CMDOH; PPP1R49"
                     /inference="alignment:Splign:2.1.0"
     exon            1456..1552
                     /gene="AXIN1"
                     /gene_synonym="AXIN; CMDOH; PPP1R49"
                     /inference="alignment:Splign:2.1.0"
     exon            1553..1690
                     /gene="AXIN1"
                     /gene_synonym="AXIN; CMDOH; PPP1R49"
                     /inference="alignment:Splign:2.1.0"
     exon            1691..2220
                     /gene="AXIN1"
                     /gene_synonym="AXIN; CMDOH; PPP1R49"
                     /inference="alignment:Splign:2.1.0"
     exon            2221..2391
                     /gene="AXIN1"
                     /gene_synonym="AXIN; CMDOH; PPP1R49"
                     /inference="alignment:Splign:2.1.0"
     exon            2392..2622
                     /gene="AXIN1"
                     /gene_synonym="AXIN; CMDOH; PPP1R49"
                     /inference="alignment:Splign:2.1.0"
     exon            2623..2730
                     /gene="AXIN1"
                     /gene_synonym="AXIN; CMDOH; PPP1R49"
                     /inference="alignment:Splign:2.1.0"
     exon            2731..2898
                     /gene="AXIN1"
                     /gene_synonym="AXIN; CMDOH; PPP1R49"
                     /inference="alignment:Splign:2.1.0"
     exon            2899..3707
                     /gene="AXIN1"
                     /gene_synonym="AXIN; CMDOH; PPP1R49"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3685..3690
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AXIN1"
                     /gene_synonym="AXIN; CMDOH; PPP1R49"
                     /note="hexamer: AATAAA"
     polyA_site      3707
                     /gene="AXIN1"
                     /gene_synonym="AXIN; CMDOH; PPP1R49"
                     /note="major polyA site"
ORIGIN      
        1 acttccggac gccgccggcg ggggcgctcg ggcctgggct tcggcgctct ggctcgggct
       61 ctggctcggg aggcgatcgt ggccgctgcc gccgccagag ccggccggag tcggcccgga
      121 gccgcgtcca cgcggagcgg gcgggtggga gctggcggct gggcccctgc ggcgcccccg
      181 cggcctgccc cgcgtccgcc tccgggccgc cgagccgcag ccgccgagat gggggccgcc
      241 ccgggccgcg cccccgccgg gtcccgcccg ccgcgctgcc gctgagcgca tgggcccgga
      301 ccgcgccgcg ccgctccggg agccgggccc ggggtcccgc caccaccgcg cgcgggacag
      361 attgattcac tttggagctg taagtactga tgtattaggg tgcagcgctc attgttcctt
      421 gacgcagagt cccaaaatga atatccaaga gcagggtttc cccttggacc tcggagcaag
      481 tttcaccgaa gatgctcccc gacccccagt gcctggtgag gagggagaac tggtgtccac
      541 agacccgagg cccgccagct acagtttctg ctccgggaaa ggtgttggca ttaaaggtga
      601 gacttcgacg gccactccga ggcgctcgga tctggacctg gggtatgagc ctgagggcag
      661 tgcctccccc accccaccat acttgaagtg ggctgagtca ctgcattccc tgctggatga
      721 ccaagatggg ataagcctgt tcaggacttt cctgaagcag gagggctgtg ccgacttgct
      781 ggacttctgg tttgcctgca ctggcttcag gaagctggag ccctgtgact cgaacgagga
      841 gaagaggctg aagctggcga gagccatcta ccgaaagtac attcttgata acaatggcat
      901 cgtgtcccgg cagaccaagc cagccaccaa gagcttcata aagggctgca tcatgaagca
      961 gctgatcgat cctgccatgt ttgaccaggc ccagaccgaa atccaggcca ctatggagga
     1021 aaacacctat ccctccttcc ttaagtctga tatttatttg gaatatacga ggacaggctc
     1081 ggagagcccc aaagtctgta gtgaccagag ctctgggtca gggacaggga agggcatatc
     1141 tggatacctg ccgaccttaa atgaagatga ggaatggaag tgtgaccagg acatggatga
     1201 ggacgatggc agagacgctg ctccccccgg aagactccct cagaagctgc tcctggagac
     1261 agctgccccg agggtctcct ccagtagacg gtacagcgaa ggcagagagt tcaggtatgg
     1321 atcctggcgg gagccagtca acccctatta tgtcaatgcc ggctatgccc tggccccagc
     1381 caccagtgcc aacgacagcg agcagcagag cctgtccagc gatgcagaca ccctgtccct
     1441 cacggacagc agcgtggatg ggatcccccc atacaggatc cgtaagcagc accgcaggga
     1501 gatgcaggag agcgtgcagg tcaatgggcg ggtgccccta cctcacattc cccgcacgta
     1561 ccgggtgccg aaggaggtcc gcgtggagcc tcagaagttc gcggaggagc tcatccaccg
     1621 cctggaggct gtgcagcgca cgcgggaggc cgaggagaag ctggaggagc ggctgaagcg
     1681 cgtgcgcatg gaggaggaag gtgaggacgg cgatccatcg tcagggcccc cagggccgtg
     1741 tcacaagctg cctcccgccc ccgcttggca ccacttcccg ccccgctgtg tggacatggg
     1801 ctgtgccggg ctccgggatg cacacgagga gaaccctgag agcatcctgg acgagcacgt
     1861 acagcgtgtg ctgaggacac ctggccgcca gtcgcctggg cctggccatc gctccccgga
     1921 cagtgggcac gtggccaaga tgccagtggc actggggggt gccgcctcgg ggcacgggaa
     1981 gcacgtaccc aagtcagggg cgaagctgga cgcggccggc ctgcaccacc accgacacgt
     2041 ccaccaccac gtccaccaca gcacagcccg gcccaaggag caggtggagg ccgaggccac
     2101 ccgcagggcc cagagcagct tcgcctgggg cctggaacca cacagccatg gggcaaggtc
     2161 ccgaggctac tcagagagtg ttggcgctgc ccccaacgcc agtgatggcc tcgcccacag
     2221 tgggaaggtg ggcgtggcgt gcaaaagaaa tgccaagaag gctgagtcgg ggaagagcgc
     2281 cagcaccgag gtgccaggtg cctcggagga tgcggagaag aaccagaaaa tcatgcagtg
     2341 gatcattgag ggggaaaagg agatcagcag gcaccgcagg accggccacg ggtcttcggg
     2401 gacgaggaag ccacagcccc atgagaactc cagacccttg tcccttgagc acccctgggc
     2461 cggccctcag ctccggacct ccgtgcagcc ctcccacctc ttcatccaag accccaccat
     2521 gccaccccac ccagctccca accccctaac ccagctggag gaggcgcgcc gacgtctgga
     2581 ggaggaagaa aagagagcca gccgagcacc ctccaagcag aggtatgtgc aggaggttat
     2641 gcggcgggga cgcgcctgcg tcaggccagc gtgcgcgccg gtgctgcacg tggtaccagc
     2701 cgtgtcggac atggagctct ccgagacaga gacaagatcg cagaggaagg tgggcggcgg
     2761 gagtgcccag ccgtgtgaca gcatcgttgt ggcgtactac ttctgcgggg aacccatccc
     2821 ctaccgcacc ctggtgaggg gccgcgctgt caccctgggc cagttcaagg agctgctgac
     2881 caaaaagggc agctacagat actacttcaa gaaagtgagc gacgagtttg actgtggggt
     2941 ggtgtttgag gaggttcgag aggacgaggc cgtcctgccc gtctttgagg agaagatcat
     3001 cggcaaagtg gagaaggtgg actgataggc tggtgggctg gccgctgtgc caggcgaggc
     3061 ccttggcggg cacgggtgtc acggccaggc agatgacctc gtactcagga gcccgatggg
     3121 gaacagtgtt gggtgtacca cccatccctg tggtctaccc gtgtctagag gcaggtaggg
     3181 ggtccctcca agtggtccac aagcttctgt cctgccccca aggaggcagc ctggaccact
     3241 cctcatagca atacttggag ggcccagccc aagtgaggca gccgaggtcc ctgctgccag
     3301 cttcaggtga ccccccccca tcccccggca cctcccttgg gcacgtgtgc tgggatctac
     3361 tttccctctg ggatttgccc acgtacccag gtctgggtgg ggcccaggcc cggatgcaga
     3421 ggcctgcagg gcctctgtca attgtacgcg ccaccgagtg ccttcaacac agcttgtctc
     3481 ttgcctgcca ctgtgtgaat cggcgacgga gcactgcacc tgcctccagc cgccggctgt
     3541 gcagtcctgg gtcctccttt ctgagggccc gtgtaaatat gtacatttct caggctaggc
     3601 cagcaggggc tgcccgagtc tgtttttcat gcgatgacac ttgtacaatt aattatcttt
     3661 tcaaaggtac ttggataata atgaaataaa actgtttttg aacctgc
//
