LOCUS       NM_153000               3803 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens APC down-regulated 1 (APCDD1), mRNA.
ACCESSION   NM_153000
VERSION     NM_153000.5
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 3803)
  AUTHORS   Skopelitou,D., Miao,B., Srivastava,A., Kumar,A., Kuswick,M.,
            Dymerska,D., Paramasivam,N., Schlesner,M., Lubinski,J.,
            Hemminki,K., Forsti,A. and Bandapalli,O.R.
  TITLE     Whole Exome Sequencing Identifies APCDD1 and HDAC5 Genes as
            Potentially Cancer Predisposing in Familial Colorectal Cancer
  JOURNAL   Int J Mol Sci 22 (4), 1837 (2021)
   PUBMED   33673279
  REMARK    GeneRIF: Whole Exome Sequencing Identifies APCDD1 and HDAC5 Genes
            as Potentially Cancer Predisposing in Familial Colorectal Cancer.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3803)
  AUTHORS   Lin,L., Huang,M., Shi,X., Mayakonda,A., Hu,K., Jiang,Y.Y., Guo,X.,
            Chen,L., Pang,B., Doan,N., Said,J.W., Xie,J., Gery,S., Cheng,X.,
            Lin,Z., Li,J., Berman,B.P., Yin,D., Lin,D.C. and Koeffler,H.P.
  TITLE     Super-enhancer-associated MEIS1 promotes transcriptional
            dysregulation in Ewing sarcoma in co-operation with EWS-FLI1
  JOURNAL   Nucleic Acids Res 47 (3), 1255-1267 (2019)
   PUBMED   30496486
  REMARK    GeneRIF: Through integrative analysis, we identify MEIS1 as a
            super-enhancer-driven oncogene, which co-operates with EWS-FLI1 in
            transcriptional regulation, and plays a key pro-survival role in
            Ewing sarcoma. Moreover, APCDD1, another super-enhancer-associated
            gene, acting as a downstream target of both MEIS1 and EWS-FLI1, is
            also characterized as a novel tumor-promoting factor in this
            malignancy
REFERENCE   3  (bases 1 to 3803)
  AUTHORS   Han,W. and Liu,J.
  TITLE     Epigenetic silencing of the Wnt antagonist APCDD1 by promoter DNA
            hyper-methylation contributes to osteosarcoma cell invasion and
            metastasis
  JOURNAL   Biochem Biophys Res Commun 491 (1), 91-97 (2017)
   PUBMED   28698141
  REMARK    GeneRIF: Thus, we have provided the first evidence that APCDD1
            expression is epigenetically silenced in OS, which may facilitate
            invasion and metastasis of OS cells.
REFERENCE   4  (bases 1 to 3803)
  AUTHORS   Yiew,N.K.H., Chatterjee,T.K., Tang,Y.L., Pellenberg,R.,
            Stansfield,B.K., Bagi,Z., Fulton,D.J., Stepp,D.W., Chen,W.,
            Patel,V., Kamath,V.M., Litwin,S.E., Hui,D.Y., Rudich,S.M., Kim,H.W.
            and Weintraub,N.L.
  TITLE     A novel role for the Wnt inhibitor APCDD1 in adipocyte
            differentiation: Implications for diet-induced obesity
  JOURNAL   J Biol Chem 292 (15), 6312-6324 (2017)
   PUBMED   28242765
  REMARK    GeneRIF: these novel findings suggest that APCDD1 positively
            regulates adipogenic differentiation and that its down-regulation
            by miR-130 during diet-induced obesity may contribute to impaired
            adipogenic differentiation and obesity-related metabolic disease.
REFERENCE   5  (bases 1 to 3803)
  AUTHORS   Li,M., Cheng,R., Zhuang,Y. and Yao,Z.
  TITLE     A recurrent mutation in the APCDD1 gene responsible for hereditary
            hypotrichosis simplex in a large Chinese family
  JOURNAL   Br J Dermatol 167 (4), 952-954 (2012)
   PUBMED   22512811
  REMARK    GeneRIF: mutation in the APCDD1 gene is responsible for hereditary
            hypotrichosis simplex in a large Chinese family.
REFERENCE   6  (bases 1 to 3803)
  AUTHORS   Ahn,M.J., Won,H.H., Lee,J., Lee,S.T., Sun,J.M., Park,Y.H.,
            Ahn,J.S., Kwon,O.J., Kim,H., Shim,Y.M., Kim,J., Kim,K., Kim,Y.H.,
            Park,J.Y., Kim,J.W. and Park,K.
  TITLE     The 18p11.22 locus is associated with never smoker non-small cell
            lung cancer susceptibility in Korean populations
  JOURNAL   Hum Genet 131 (3), 365-372 (2012)
   PUBMED   21866343
REFERENCE   7  (bases 1 to 3803)
  AUTHORS   Tsui,D.W., Lam,Y.M., Lee,W.S., Leung,T.Y., Lau,T.K., Lau,E.T.,
            Tang,M.H., Akolekar,R., Nicolaides,K.H., Chiu,R.W., Lo,Y.M. and
            Chim,S.S.
  TITLE     Systematic identification of placental epigenetic signatures for
            the noninvasive prenatal detection of Edwards syndrome
  JOURNAL   PLoS One 5 (11), e15069 (2010)
   PUBMED   21152411
  REMARK    GeneRIF: Data show that the methylated VAPA-APCDD1 DNA in maternal
            plasma is predominantly derived from the fetus, and this novel
            fetal epigenetic marker in maternal plasma is useful for the
            noninvasive detection of fetal trisomy 18.
            Publication Status: Online-Only
REFERENCE   8  (bases 1 to 3803)
  AUTHORS   Shimomura,Y., Agalliu,D., Vonica,A., Luria,V., Wajid,M., Baumer,A.,
            Belli,S., Petukhova,L., Schinzel,A., Brivanlou,A.H., Barres,B.A.
            and Christiano,A.M.
  TITLE     APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis
            simplex
  JOURNAL   Nature 464 (7291), 1043-1047 (2010)
   PUBMED   20393562
  REMARK    GeneRIF: APCDD1 is a novel inhibitor of the Wnt signalling pathway
            with an essential role in human hair growth
REFERENCE   9  (bases 1 to 3803)
  AUTHORS   Takahashi,M., Fujita,M., Furukawa,Y., Hamamoto,R., Shimokawa,T.,
            Miwa,N., Ogawa,M. and Nakamura,Y.
  TITLE     Isolation of a novel human gene, APCDD1, as a direct target of the
            beta-Catenin/T-cell factor 4 complex with probable involvement in
            colorectal carcinogenesis
  JOURNAL   Cancer Res 62 (20), 5651-5656 (2002)
   PUBMED   12384519
REFERENCE   10 (bases 1 to 3803)
  AUTHORS   Baumer,A., Belli,S., Trueb,R.M. and Schinzel,A.
  TITLE     An autosomal dominant form of hereditary hypotrichosis simplex maps
            to 18p11.32-p11.23 in an Italian family
  JOURNAL   Eur J Hum Genet 8 (6), 443-448 (2000)
   PUBMED   10878665
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AB056722.1, BC053324.1 and
            AP001099.5.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_153000.4.
            
            Summary: This locus encodes an inhibitor of the Wnt signaling
            pathway. Mutations at this locus have been associated with
            hereditary hypotrichosis simplex. Increased expression of this gene
            may also be associated with colorectal carcinogenesis.[provided by
            RefSeq, Sep 2010].
            
            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 :: AB056722.1, AB104887.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000355285.10/ ENSP00000347433.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-267               AB056722.1         8-274
            268-328             BC053324.1         246-306
            329-329             AP001099.5         8394-8394
            330-1915            AB056722.1         336-1921
            1916-2555           BC053324.1         1894-2533
            2556-3803           AP001099.5         42133-43380
FEATURES             Location/Qualifiers
     source          1..3803
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18p11.22"
     gene            1..3803
                     /gene="APCDD1"
                     /gene_synonym="B7323; DRAPC1; FP7019; HHS; HTS; HYPT1"
                     /note="APC down-regulated 1"
                     /db_xref="GeneID:147495"
                     /db_xref="HGNC:HGNC:15718"
                     /db_xref="MIM:607479"
     exon            1..405
                     /gene="APCDD1"
                     /gene_synonym="B7323; DRAPC1; FP7019; HHS; HTS; HYPT1"
                     /inference="alignment:Splign:2.1.0"
     CDS             348..1892
                     /gene="APCDD1"
                     /gene_synonym="B7323; DRAPC1; FP7019; HHS; HTS; HYPT1"
                     /note="protein APCDD1; adenomatosis polyposis coli
                     down-regulated 1 protein; hypoptrichosis simplex"
                     /codon_start=1
                     /product="protein APCDD1 precursor"
                     /protein_id="NP_694545.1"
                     /db_xref="CCDS:CCDS11849.1"
                     /db_xref="GeneID:147495"
                     /db_xref="HGNC:HGNC:15718"
                     /db_xref="MIM:607479"
                     /translation="MSWPRRLLLRYLFPALLLHGLGEGSALLHPDSRSHPRSLEKSAW
                     RAFKESQCHHMLKHLHNGARITVQMPPTIEGHWVSTGCEVRSGPEFITRSYRFYHNNT
                     FKAYQFYYGSNRCTNPTYTLIIRGKIRLRQASWIIRGGTEADYQLHNVQVICHTEAVA
                     EKLGQQVNRTCPGFLADGGPWVQDVAYDLWREENGCECTKAVNFAMHELQLIRVEKQY
                     LHHNLDHLVEELFLGDIHTDATQRMFYRPSSYQPPLQNAKNHDHACIACRIIYRSDEH
                     HPPILPPKADLTIGLHGEWVSQRCEVRPEVLFLTRHFIFHDNNNTWEGHYYHYSDPVC
                     KHPTFSIYARGRYSRGVLSSRVMGGTEFVFKVNHMKVTPMDAATASLLNVFNGNECGA
                     EGSWQVGIQQDVTHTNGCVALGIKLPHTEYEIFKMEQDARGRYLLFNGQRPSDGSSPD
                     RPEKRATSYQMPLVQCASSSPRAEDLAEDSGSSLYGRAPGRHTWSLLLAALACLVPLL
                     HWNIRR"
     exon            406..589
                     /gene="APCDD1"
                     /gene_synonym="B7323; DRAPC1; FP7019; HHS; HTS; HYPT1"
                     /inference="alignment:Splign:2.1.0"
     exon            590..1121
                     /gene="APCDD1"
                     /gene_synonym="B7323; DRAPC1; FP7019; HHS; HTS; HYPT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1122..1443
                     /gene="APCDD1"
                     /gene_synonym="B7323; DRAPC1; FP7019; HHS; HTS; HYPT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1444..3803
                     /gene="APCDD1"
                     /gene_synonym="B7323; DRAPC1; FP7019; HHS; HTS; HYPT1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2529..2534
                     /regulatory_class="polyA_signal_sequence"
                     /gene="APCDD1"
                     /gene_synonym="B7323; DRAPC1; FP7019; HHS; HTS; HYPT1"
                     /note="hexamer: ATTAAA"
     polyA_site      2555
                     /gene="APCDD1"
                     /gene_synonym="B7323; DRAPC1; FP7019; HHS; HTS; HYPT1"
                     /note="major polyA site"
     regulatory      3780..3785
                     /regulatory_class="polyA_signal_sequence"
                     /gene="APCDD1"
                     /gene_synonym="B7323; DRAPC1; FP7019; HHS; HTS; HYPT1"
                     /note="hexamer: AATAAA"
     polyA_site      3803
                     /gene="APCDD1"
                     /gene_synonym="B7323; DRAPC1; FP7019; HHS; HTS; HYPT1"
ORIGIN      
        1 gaagagacgc tgcagctgcg gtggcggtgg cggccactgc agctcagagc ggcgcacgcg
       61 gcggccgggg cgggacgcgg ggccgggcgc ggagaagtcg gggcgggcgg cagagaggcc
      121 gggacgcgga ccgggccggg gcgcccacag ccgcccgacg gcgcccagag agcgcgcgcc
      181 ccgcagcccc gcgcctagcc cgccgggcat ggggcgcgcg gcagccgcct gaagccccgg
      241 cctggcccgg ccgcacccgg ccggaggcgg agggcagagc gcgcgcccag ttgcccgggc
      301 accaaatcgg agcgcggcgt gcgggaggcc ccagagcagg actggaaatg tcctggccgc
      361 gccgcctcct gctcagatac ctgttcccgg ccctcctgct tcacgggctg ggagagggtt
      421 ctgccctcct tcatccagac agcaggtctc atcctaggtc cttagagaaa agtgcctgga
      481 gggcttttaa ggagtcacag tgccatcaca tgctcaaaca tctccacaat ggtgcaagga
      541 tcacagtgca gatgccacct acaatcgagg gccactgggt ctccacaggc tgtgaagtaa
      601 ggtcaggccc agagttcatc acaaggtcct acagattcta ccacaataac accttcaagg
      661 cctaccaatt ttattatggc agcaaccggt gcacaaatcc cacttatact ctcatcatcc
      721 ggggcaagat ccgcctccgc caggcctcct ggatcatccg agggggcacg gaagccgact
      781 accagctgca caacgtccag gtgatctgcc acacagaggc ggtggccgag aagctcggcc
      841 agcaggtgaa ccgcacatgc ccgggcttcc tcgcagacgg gggtccctgg gtgcaggacg
      901 tggcctatga cctctggcga gaggagaacg gctgtgagtg caccaaggcc gtgaactttg
      961 ccatgcatga acttcagctc atccgggtgg agaagcagta ccttcaccac aacctcgacc
     1021 acctggtcga ggagctcttc cttggtgaca ttcacactga tgccacccag aggatgttct
     1081 accggccctc cagttaccag ccccctctgc agaatgccaa gaaccacgac catgcctgca
     1141 tcgcctgtcg gatcatctat cggtcagacg agcaccaccc tcccatcctg cccccaaagg
     1201 cagacctgac catcggcctg cacggggagt gggtgagcca gcgctgtgag gtgcgccccg
     1261 aagtcctctt cctcacccgc cacttcatct tccatgacaa caacaacacc tgggagggcc
     1321 actactacca ctactcagac ccggtgtgca agcaccccac cttctccatc tacgcccggg
     1381 gccgctacag ccgcggcgtc ctctcgtcca gggtcatggg aggcaccgag ttcgtgttca
     1441 aagtgaatca catgaaggtc acccccatgg atgcggccac agcctcactg ctcaacgtct
     1501 tcaacgggaa tgagtgcggg gccgagggct cctggcaggt gggcatccag caggatgtga
     1561 cccacaccaa tggctgcgtg gccctgggca tcaaactacc tcacacggag tacgagatct
     1621 tcaaaatgga acaggatgcc cgggggcgct atctgctgtt caacggtcag aggcccagcg
     1681 acgggtccag cccagacagg ccagagaaga gagccacgtc ctaccagatg cccttggtcc
     1741 agtgtgcctc ctcttcgccg agggcagagg acctcgcaga agacagtgga agcagcctgt
     1801 atggccgggc ccctgggagg cacacctggt ccctgctgct ggctgcactt gcctgccttg
     1861 tccctctgct gcattggaac atccgcagat agaagtttta gaaagttcta tttttccaaa
     1921 ccaggattcc ttactattga cagatttgct ttaccaaaag aaaagacatt tattcttttg
     1981 atgcacttga atgccagaga actgtccttc tttttctcct ctccctccct cccagcccct
     2041 gagtcatgaa cagcaaggag tgtttgaagt ttctgctttg aactccgtcc agcctgatcc
     2101 ctggcctgag caacttcaca acagtaattg cactttaaga cagcctagag ttctggacga
     2161 gcgtgtttgg tagcagggat gaaagctagg gcctcttatt tttttctctt aattattatt
     2221 atatttctga gttaaactta gaagaaacaa ctatcaagct acaacttttc ctgccatttt
     2281 cctgtggttg cagcctgtct tcctttgaaa ttgttttact ctctgagttt tatatgctgg
     2341 aatccaatgc agagttggtt tgggactgtg atcaagacac cttttattaa taaagaagag
     2401 acacaggtgt agatatgtat atacaaaaag atgtacggtc tggccaaacc accttcccag
     2461 cctttatgca aaaaaagggg agaatcaaag ctttcatttc agaaatgttg cgtggaaaag
     2521 tatctgtaat taaagtttcg aagtaattta acctattttt acatcatttg tcttaccttg
     2581 ttgagagagg agactggctt gttggcttct ggttgttgca ggaggcatgt ggcttcctgc
     2641 cttctcagta gacaggatca ttaggaaaat agcaacatca atcctgttac acaggagcag
     2701 tgacacgggt ggctgcagtg tggtacatgc cacacaaatg atagagaaag tgcccgttca
     2761 ttgcagtttc ctcttcctgg gggacctgag ccctgactca ctgtcttatt aggggcaggc
     2821 ggaagaagct gcactctggc atccatgcca ccttctaaga tgaacatgca gagacagaac
     2881 ttcagctgct cagagagagt gcagtgggca tggtctgccc tgggggcttg ctccattaca
     2941 ccctgacttg gcatgcaacc gagtctttgt gtaaagccat cctgtcattg cacatactgg
     3001 ctcactcagt gtctttcctg ctgctgatgt ggctctgtgc tggcagtttc agggtcagtg
     3061 tgctgctttc ctagggacat tagaagggcg caggagtgca tgtctgccca ttcctttgga
     3121 gtatcgcaga tgatgctata cgataccaag tgttaccgct cacagagact gggaaaggga
     3181 aatgggagta accgaaagcc agatggaacg aaagcaaaca tggaaaccat gatcacggca
     3241 aagagccatc cttgtattta agaagtaact ttggccaggt gtgatggctc acgccgtaac
     3301 cccagcactt tgggagacca aggagggtgg atcacgaggt caggagatca agaccatcct
     3361 ggctaacact gtgaaatgct gtctctacta aaaatacaaa aaattagcca ggcgtggtgg
     3421 tgggcacctg tagtcccagc tactcgggag gctgaggcag gagaatggca tgaacctggg
     3481 aggtggagct tgcagtgagc cgagattgtg ccactgcgct cgagcctggg caacagagcg
     3541 agactccatc tcaaaaaaaa aaaaaagtaa ctttatgaaa tgccacagca ttcagtgtgg
     3601 cattaagtta caacgaccac atagagtacc aaagtgcttc aggttatatt ttaagttgtg
     3661 gtgcagactg agggggctta ttcaaaatga aaatactaac ttaaatggcc accaagttca
     3721 ataaacaaag atgtcaaaat actctcagaa atacaactga tactatcttt aaaagacgta
     3781 ataaaatcat gtgaaaaact gta
//
