LOCUS       NM_001007532             445 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens saitohin (STH), mRNA.
ACCESSION   NM_001007532 XM_003403610
VERSION     NM_001007532.3
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 445)
  AUTHORS   Bonyadi,M., Ahmadieh,H., Jabbarpoor Bonyadi,M.H., Shahpasand,K.,
            Suri,F., Nasrabadi,N., Yaseri,M., Kheiri,B. and Soheilian,M.
  TITLE     Association of Saitohin gene rs62063857 polymorphism with dry type
            age-related macular degeneration
  JOURNAL   Ophthalmic Genet 41 (5), 505-506 (2020)
   PUBMED   32615840
  REMARK    GeneRIF: Association of Saitohin gene rs62063857 polymorphism with
            dry type age-related macular degeneration.
REFERENCE   2  (bases 1 to 445)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 445)
  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   4  (bases 1 to 445)
  AUTHORS   Huang,R., Tian,S., Cai,R., Sun,J., Xia,W., Dong,X., Shen,Y. and
            Wang,S.
  TITLE     Saitohin Q7R polymorphism is associated with late-onset Alzheimer's
            disease susceptibility among caucasian populations: a meta-analysis
  JOURNAL   J Cell Mol Med 21 (8), 1448-1456 (2017)
   PUBMED   28211174
  REMARK    GeneRIF: Saitohin Q7R polymorphism is associated with late-onset
            Alzheimer's disease susceptibility among caucasian populations.
            (Meta-analysis)
REFERENCE   5  (bases 1 to 445)
  AUTHORS   Lu,S.S., Gong,F.F., Feng,F., Hu,C.Y., Qian,Z.Z., Wu,Y.L., Yang,H.Y.
            and Sun,Y.H.
  TITLE     Association of microtubule associated protein tau/Saitohin
            (MAPT/STH) MAPT_238bp/STH Q7R polymorphisms and Parkinson's
            disease: A meta-analysis
  JOURNAL   Biochem Biophys Res Commun 453 (3), 653-661 (2014)
   PUBMED   25305495
  REMARK    GeneRIF: results of this meta-analysis suggested that
            MAPT_238bp/STH Q7R polymorphisms might modulate the risk of
            Parkinson's disease susceptibility
REFERENCE   6  (bases 1 to 445)
  AUTHORS   Zekanowski,C., Peplonska,B., Styczynska,M., Gustaw,K., Kuznicki,J.
            and Barcikowska,M.
  TITLE     Mutation screening of the MAPT and STH genes in Polish patients
            with clinically diagnosed frontotemporal dementia
  JOURNAL   Dement Geriatr Cogn Disord 16 (3), 126-131 (2003)
   PUBMED   12826737
  REMARK    GeneRIF: At the STH gene only a common polymorphic change was
            found.
REFERENCE   7  (bases 1 to 445)
  AUTHORS   Verpillat,P., Ricard,S., Hannequin,D., Dubois,B., Bou,J.,
            Camuzat,A., Pradier,L., Frebourg,T., Brice,A., Clerget-Darpoux,F.,
            Deleuze,J.F. and Campion,D.
  CONSRTM   French Study Group on Alzheimer's Disease and Frontotemporal
            Dementia
  TITLE     Is the saitohin gene involved in neurodegenerative diseases?
  JOURNAL   Ann Neurol 52 (6), 829-832 (2002)
   PUBMED   12447938
  REMARK    GeneRIF: The saitohin Q allele, a novel determinant of tau H1
            haplotypes, may represent a causative factor involved in the
            determinism of several tauopathies, e.g., frontotemporal dementia.
REFERENCE   8  (bases 1 to 445)
  AUTHORS   Cook,L., Brayne,C.E., Easton,D., Evans,J.G., Xuereb,J., Cairns,N.J.
            and Rubinsztein,D.C.
  TITLE     No evidence for an association between Saitohin Q7R polymorphism
            and Alzheimer's disease
  JOURNAL   Ann Neurol 52 (5), 690-691 (2002)
   PUBMED   12402275
REFERENCE   9  (bases 1 to 445)
  AUTHORS   Conrad,C., Vianna,C., Freeman,M. and Davies,P.
  TITLE     A polymorphic gene nested within an intron of the tau gene:
            implications for Alzheimer's disease
  JOURNAL   Proc Natl Acad Sci U S A 99 (11), 7751-7756 (2002)
   PUBMED   12032355
  REMARK    GeneRIF: a gene within an intron of the tau gene; Q7R polymorphism
            appears to be over-represented in the homozygous state in late
            onset Alzheimer's disease subjects
REFERENCE   10 (bases 1 to 445)
  AUTHORS   Adams,M.D., Kerlavage,A.R., Fleischmann,R.D., Fuldner,R.A.,
            Bult,C.J., Lee,N.H., Kirkness,E.F., Weinstock,K.G., Gocayne,J.D.,
            White,O. et al.
  TITLE     Initial assessment of human gene diversity and expression patterns
            based upon 83 million nucleotides of cDNA sequence
  JOURNAL   Nature 377 (6547 Suppl), 3-174 (1995)
   PUBMED   7566098
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CR936218.6.
            
            On May 17, 2019 this sequence version replaced NM_001007532.2.
            
            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 is intronless :: BC130321.1, AY179170.1 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000537309.1/ ENSP00000443168.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-445               CR936218.6         95384-95828         c
FEATURES             Location/Qualifiers
     source          1..445
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.31"
     gene            1..445
                     /gene="STH"
                     /gene_synonym="MAPTIT"
                     /note="saitohin"
                     /db_xref="GeneID:246744"
                     /db_xref="HGNC:HGNC:18839"
                     /db_xref="MIM:607067"
     exon            1..445
                     /gene="STH"
                     /gene_synonym="MAPTIT"
                     /inference="alignment:Splign:2.1.0"
     CDS             31..417
                     /gene="STH"
                     /gene_synonym="MAPTIT"
                     /note="microtubule-associated protein tau (MAPT) intronic
                     transcript"
                     /codon_start=1
                     /product="saitohin"
                     /protein_id="NP_001007533.1"
                     /db_xref="CCDS:CCDS54136.1"
                     /db_xref="GeneID:246744"
                     /db_xref="HGNC:HGNC:18839"
                     /db_xref="MIM:607067"
                     /translation="MSEGGGQVSCIFAAPTRLCRWPALIECGVNLTQPLCEWMIQVAR
                     DRTLSLAWEVASLLTLSSSEVGLEGVGTIWPSSYSSEESSRNGAEQGRQLSIEGPFQG
                     QNCPSHPAAALPLPMRGESQATSCQV"
ORIGIN      
        1 gcatgtgtct gctgctccct agtctgggcc atgagtgagg gtggaggcca agtctcatgc
       61 atttttgcag cccccacaag actgtgcagg tggccggccc tcattgaatg cggggttaat
      121 ttaactcagc ctctgtgtga gtggatgatt caggttgcca gagacagaac cctcagctta
      181 gcatgggaag tagcttccct gttgaccctg agttcatctg aggttggctt ggaaggtgtg
      241 ggcaccattt ggcccagttc ttacagctct gaagagagca gcaggaatgg ggctgagcag
      301 ggaagacaac tttccattga aggccccttt cagggccaga actgtccctc ccaccctgca
      361 gctgccctgc ctctgcccat gaggggtgag agtcaggcga cctcatgcca agtgtagaaa
      421 ggggcagatg ggagccccag gttat
//
