LOCUS       NM_020127               3107 bp    mRNA    linear   PRI 07-MAY-2024
DEFINITION  Homo sapiens tuftelin 1 (TUFT1), transcript variant 1, mRNA.
ACCESSION   NM_020127
VERSION     NM_020127.3
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 3107)
  AUTHORS   Zheng,L., Ren,Q., Zhu,W., Tao,X. and Guo,L.
  TITLE     MiR-4319 targets tuftelin 1 to reduce malignancy of cervical cancer
            cells
  JOURNAL   Cell Mol Biol (Noisy-le-grand) 70 (3), 54-60 (2024)
   PUBMED   38650156
  REMARK    GeneRIF: MiR-4319 targets tuftelin 1 to reduce malignancy of
            cervical cancer cells.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3107)
  AUTHORS   Yang,J.L., Fang,R.F., Xie,Q., Tai,B.J., Yao,D.F. and Yao,M.
  TITLE     [Overexpression of tuftelin and KLF-5 and its clinicopathological
            features in hepatitis B virus-related hepatocellular carcinoma]
  JOURNAL   Zhonghua Gan Zang Bing Za Zhi 32 (2), 148-154 (2024)
   PUBMED   38514264
  REMARK    GeneRIF: [Overexpression of tuftelin and KLF-5 and its
            clinicopathological features in hepatitis B virus-related
            hepatocellular carcinoma].
REFERENCE   3  (bases 1 to 3107)
  AUTHORS   Verkerk,A.J.M.H., Andrei,D., Vermeer,M.C.S.C., Kramer,D.,
            Schouten,M., Arp,P., Verlouw,J.A.M., Pas,H.H., Meijer,H.J., van der
            Molen,M., Oberdorf-Maass,S., Nijenhuis,M., Romero-Herrera,P.H.,
            Hoes,M.F., Bremer,J., Slotman,J.A., van den Akker,P.C.,
            Diercks,G.F.H., Giepmans,B.N.G., Stoop,H., Saris,J.J., van den
            Ouweland,A.M.W., Willemsen,R., Hublin,J.J., Dean,M.C.,
            Hoogeboom,A.J.M., Sillje,H.H.W., Uitterlinden,A.G., van der Meer,P.
            and Bolling,M.C.
  TITLE     Disruption of TUFT1, a Desmosome-Associated Protein, Causes Skin
            Fragility, Woolly Hair, and Palmoplantar Keratoderma
  JOURNAL   J Invest Dermatol 144 (2), 284-295 (2024)
   PUBMED   37716648
  REMARK    GeneRIF: Disruption of TUFT1, a Desmosome-Associated Protein,
            Causes Skin Fragility, Woolly Hair, and Palmoplantar Keratoderma.
REFERENCE   4  (bases 1 to 3107)
  AUTHORS   Wang,X., Liu,Y., Zhou,M., Yu,L. and Si,Z.
  TITLE     m6A modified BACE1-AS contributes to liver metastasis and
            stemness-like properties in colorectal cancer through TUFT1
            dependent activation of Wnt signaling
  JOURNAL   J Exp Clin Cancer Res 42 (1), 306 (2023)
   PUBMED   37986103
  REMARK    GeneRIF: m6A modified BACE1-AS contributes to liver metastasis and
            stemness-like properties in colorectal cancer through TUFT1
            dependent activation of Wnt signaling.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3107)
  AUTHORS   Clark,H.F., Gurney,A.L., Abaya,E., Baker,K., Baldwin,D., Brush,J.,
            Chen,J., Chow,B., Chui,C., Crowley,C., Currell,B., Deuel,B.,
            Dowd,P., Eaton,D., Foster,J., Grimaldi,C., Gu,Q., Hass,P.E.,
            Heldens,S., Huang,A., Kim,H.S., Klimowski,L., Jin,Y., Johnson,S.,
            Lee,J., Lewis,L., Liao,D., Mark,M., Robbie,E., Sanchez,C.,
            Schoenfeld,J., Seshagiri,S., Simmons,L., Singh,J., Smith,V.,
            Stinson,J., Vagts,A., Vandlen,R., Watanabe,C., Wieand,D., Woods,K.,
            Xie,M.H., Yansura,D., Yi,S., Yu,G., Yuan,J., Zhang,M., Zhang,Z.,
            Goddard,A., Wood,W.I., Godowski,P. and Gray,A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
REFERENCE   6  (bases 1 to 3107)
  AUTHORS   Deutsch,D., Leiser,Y., Shay,B., Fermon,E., Taylor,A., Rosenfeld,E.,
            Dafni,L., Charuvi,K., Cohen,Y., Haze,A., Fuks,A. and Mao,Z.
  TITLE     The human tuftelin gene and the expression of tuftelin in
            mineralizing and nonmineralizing tissues
  JOURNAL   Connect Tissue Res 43 (2-3), 425-434 (2002)
   PUBMED   12489194
  REMARK    GeneRIF: The human tuftelin gene and the expression of tuftelin in
            mineralizing and nonmineralizing tissues. Review.
            Review article
REFERENCE   7  (bases 1 to 3107)
  AUTHORS   Simpson,J.C., Wellenreuther,R., Poustka,A., Pepperkok,R. and
            Wiemann,S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
REFERENCE   8  (bases 1 to 3107)
  AUTHORS   Paine,C.T., Paine,M.L., Luo,W., Okamoto,C.T., Lyngstadaas,S.P. and
            Snead,M.L.
  TITLE     A tuftelin-interacting protein (TIP39) localizes to the apical
            secretory pole of mouse ameloblasts
  JOURNAL   J Biol Chem 275 (29), 22284-22292 (2000)
   PUBMED   10806191
REFERENCE   9  (bases 1 to 3107)
  AUTHORS   Bashir,M.M., Abrams,W.R., Tucker,T., Sellinger,B., Budarf,M.,
            Emanuel,B. and Rosenbloom,J.
  TITLE     Molecular cloning and characterization of the bovine and human
            tuftelin genes
  JOURNAL   Connect Tissue Res 39 (1-3), 13-24 (1998)
   PUBMED   11062985
REFERENCE   10 (bases 1 to 3107)
  AUTHORS   Deutsch,D., Palmon,A., Young,M.F., Selig,S., Kearns,W.G. and
            Fisher,L.W.
  TITLE     Mapping of the human tuftelin (TUFT1) gene to chromosome 1 by
            fluorescence in situ hybridization
  JOURNAL   Mamm Genome 5 (7), 461-462 (1994)
   PUBMED   7919663
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AF254260.1 and AK026989.1.
            
            On Nov 22, 2018 this sequence version replaced NM_020127.2.
            
            Summary: Tuftelin is an acidic protein that is thought to play a
            role in dental enamel mineralization and is implicated in caries
            susceptibility. It is also thought to be involved with adaptation
            to hypoxia, mesenchymal stem cell function, and neurotrophin nerve
            growth factor mediated neuronal differentiation. [provided by
            RefSeq, Aug 2014].
            
            Transcript Variant: This variant (1) encodes the longer protein
            isoform.
            
            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 :: AF254260.1, AL136917.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000368849.8/ ENSP00000357842.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1550              AF254260.1         5-1554
            1551-1851           AK026989.1         809-1109
            1852-2473           AF254260.1         1856-2477
            2474-2651           AK026989.1         1732-1909
            2652-2748           AF254260.1         2654-2750
            2749-3006           AK026989.1         2007-2264
            3007-3107           AF254260.1         3009-3109
FEATURES             Location/Qualifiers
     source          1..3107
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.3"
     gene            1..3107
                     /gene="TUFT1"
                     /gene_synonym="WHSF"
                     /note="tuftelin 1"
                     /db_xref="GeneID:7286"
                     /db_xref="HGNC:HGNC:12422"
                     /db_xref="MIM:600087"
     exon            1..118
                     /gene="TUFT1"
                     /gene_synonym="WHSF"
                     /inference="alignment:Splign:2.1.0"
     CDS             59..1231
                     /gene="TUFT1"
                     /gene_synonym="WHSF"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /codon_start=1
                     /product="tuftelin isoform 1"
                     /protein_id="NP_064512.1"
                     /db_xref="CCDS:CCDS1000.1"
                     /db_xref="GeneID:7286"
                     /db_xref="HGNC:HGNC:12422"
                     /db_xref="MIM:600087"
                     /translation="MNGTRNWCTLVDVHPEDQAAGSVDILRLTLQGELTGDELEHIAQ
                     KAGRKTYAMVSSHSAGHSLASELVESHDGHEEIIKVYLKGRSGDKMIHEKNINQLKSE
                     VQYIQEARNCLQKLREDISSKLDRNLGDSLHRQEIQVVLEKPNGFSQSPTALYSSPPE
                     VDTCINEDVESLRKTVQDLLAKLQEAKRQHQSDCVAFEVTLSRYQREAEQSNVALQRE
                     EDRVEQKEAEVGELQRRLLGMETEHQALLAKVREGEVALEELRSNNADCQAEREKAAT
                     LEKEVAGLREKIHHLDDMLKSQQRKVRQMIEQLQNSKAVIQSKDATIQELKEKIAYLE
                     AENLEMHDRMEHLIEKQISHGNFSTQARAKTENPGSIRISKPPSPKPMPVIRVVET"
     exon            119..193
                     /gene="TUFT1"
                     /gene_synonym="WHSF"
                     /inference="alignment:Splign:2.1.0"
     exon            194..295
                     /gene="TUFT1"
                     /gene_synonym="WHSF"
                     /inference="alignment:Splign:2.1.0"
     exon            296..382
                     /gene="TUFT1"
                     /gene_synonym="WHSF"
                     /inference="alignment:Splign:2.1.0"
     exon            383..472
                     /gene="TUFT1"
                     /gene_synonym="WHSF"
                     /inference="alignment:Splign:2.1.0"
     exon            473..538
                     /gene="TUFT1"
                     /gene_synonym="WHSF"
                     /inference="alignment:Splign:2.1.0"
     exon            539..652
                     /gene="TUFT1"
                     /gene_synonym="WHSF"
                     /inference="alignment:Splign:2.1.0"
     exon            653..781
                     /gene="TUFT1"
                     /gene_synonym="WHSF"
                     /inference="alignment:Splign:2.1.0"
     exon            782..876
                     /gene="TUFT1"
                     /gene_synonym="WHSF"
                     /inference="alignment:Splign:2.1.0"
     exon            877..982
                     /gene="TUFT1"
                     /gene_synonym="WHSF"
                     /inference="alignment:Splign:2.1.0"
     exon            983..1066
                     /gene="TUFT1"
                     /gene_synonym="WHSF"
                     /inference="alignment:Splign:2.1.0"
     exon            1067..1167
                     /gene="TUFT1"
                     /gene_synonym="WHSF"
                     /inference="alignment:Splign:2.1.0"
     exon            1168..3107
                     /gene="TUFT1"
                     /gene_synonym="WHSF"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3080..3085
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TUFT1"
                     /gene_synonym="WHSF"
                     /note="hexamer: AATAAA"
     polyA_site      3107
                     /gene="TUFT1"
                     /gene_synonym="WHSF"
                     /note="major polyA site"
ORIGIN      
        1 agttggagcc agacagcggg gtggacaagt ggcgtgtgtg ctgcgacccc gagggaagat
       61 gaacgggacg cggaactggt gtaccctggt ggacgtgcac ccagaggacc aggcggcggg
      121 cagcgtggac attctcaggc tgactctcca gggtgaactg acaggagatg aacttgaaca
      181 catagcccag aaggcgggca ggaagaccta tgccatggtg tccagccact cagctggtca
      241 ttctctggct tcagaactgg tggagtccca tgatggacat gaggagatca ttaaggtgta
      301 cttgaagggg aggtctggag acaagatgat tcacgagaag aatattaacc agctgaagag
      361 tgaggtccag tacatccagg aggccaggaa ctgcctacag aagctccggg aggatataag
      421 tagcaagctt gacaggaacc taggagattc tctccatcga caggagatac aggtggtgct
      481 agaaaagcca aatggcttta gtcagagtcc cacagccctg tacagcagcc cacctgaggt
      541 ggacacctgt ataaatgagg atgttgagag cttgaggaag acggtgcagg acttgctggc
      601 caagcttcag gaggccaagc ggcaacacca gtcagactgt gtggcttttg aggtcacact
      661 cagccggtac cagagggaag cagaacaaag taatgtggcc cttcagagag aggaggacag
      721 agtggagcag aaagaggcag aagtcggaga gctgcagagg cgcttgctag ggatggagac
      781 ggagcatcag gccttactgg cgaaagtgag ggaaggggag gtggccctag aggaacttcg
      841 gagcaacaat gctgactgcc aagcagaacg agaaaaggct gctaccctgg aaaaggaagt
      901 ggccgggttg cgggagaaga tccaccactt ggatgacatg ctcaagagcc agcagcggaa
      961 agtccggcaa atgatagagc agctccagaa ttcaaaagct gtgatccagt caaaggacgc
     1021 caccatccag gagctcaagg agaaaatcgc ctatctggag gcagagaatt tagagatgca
     1081 tgaccggatg gaacacctga tagaaaaaca aatcagtcat ggcaacttca gcacccaggc
     1141 ccgggccaag acagagaacc cgggcagtat taggatatcc aagccgccta gcccgaagcc
     1201 catgcctgtc atccgagtgg tggaaacctg agctgcctgg agatggttgc tgccattgct
     1261 gctgcctctg cctcggagaa gcccactgcc cctgttggct gttaacactg cctttgactt
     1321 cctgactgtc ccctggctgc acccaggact tcgggctcct gtgtctcacc attcccaagc
     1381 ccctggccac tctaagctgg gcagacggag cacgagcacc tattcaaggc actgcagccc
     1441 tttggaagac attgtcctgc aagcaggagc cagggcaata tctatattcc tacagtgact
     1501 atttttctct gtagagagcc tcccttctgt tgtagactgg actctggctg tgccataagc
     1561 caggccttca tcagattggg agaggtgaca agatttgcct cagccctaaa agctggagac
     1621 acagatgtcc agagtgattg gagaatgtcc tgggggaatg aagttccttc cacaaacaca
     1681 gctcagttct tagcaacaaa ctgtttgttt ttctacttgc tccatctgca gcctacgctg
     1741 ccctggcctc ctgcagacag atagtggggt tacctggcaa ggcctggtga gagccagtga
     1801 acctaagctt tgactgggtg gccttgtctt tctggggagg agggaatgta cattcaggga
     1861 gtagcctttt gcggaaaaat tctctagggc tacagacagt catgtgtgac ttctctctgc
     1921 tgtgaaaact cccagagtct ctttagggat tttccctaag gtgtaccacc aggcacacct
     1981 cagtcttctt gacccagagc ctgaaaactg ttttcactgg gttccaccag tcccagcaaa
     2041 atcctctttg tatttatttt gctaagttat tggtggtttt gcttacatct catgattgat
     2101 ataataccaa agttctatag ccttctcttg cagtatttgg atttgcttga aaccgggaaa
     2161 actgttccca ttaggcttgt taatgtcaga gtgacactat tatgaatctt tctctccctt
     2221 tcctctgcct gtttcttctc tctttctcct tcaaacttgc tctgcagcta aggaaggtga
     2281 gtctactttc cctgaggctt tggggtcaga gtatatgttg tttggagaaa gagggcaatc
     2341 aggactcttc tgggacccag atgagttctt cactagccct tctgaacccc ttgctccata
     2401 attggtcttt tatcctggct ctgaatgacc ctgcaggtca tcatggtttt ctttttttat
     2461 tgtttttttt tttttctgag acagagtctc actctgtcac ccaggctgga gtgcagtggc
     2521 gcgatctcag ctcactgcaa cctctgcctc ccggatttaa gcgattcttc tgcctcagcc
     2581 tcccgagtag ctgggactac aggtgtgcca ccacgcctgg ctgatttttg tatttttagt
     2641 agagatgggg tttcaccata ctggctaggc tggtctcgaa ttcctgacct caggtgatcc
     2701 acccacctcg gcttcccaaa gtgctaggat tataggcttg agctactgcg cccggcccat
     2761 ggtgtttttc tttagggctc ttcctacaac cttgagaagt agataggcat cagagtatgg
     2821 tactatagga atcagaaaaa ttcaaaacaa atgtggatta agtgtttagg ctctatgtgg
     2881 ctcacgcagc cagaatcctt aagtctgtgt gtttctgtgt ctcaagactg ggctcacatt
     2941 ctggctttgt ccataacaat gctctgggat ttcagggagt tccctcattt gtaaaatgag
     3001 ggggtcagag caggtgatat ccatgtttct tccctttctg atattgttgt ctgtggcata
     3061 ttctttgtat ggcgaattta ataaattata ttaatgtgtc tctttga
//
