LOCUS       NM_001256749            1677 bp    mRNA    linear   PRI 22-SEP-2024
DEFINITION  Homo sapiens ssu-2 homolog (SSUH2), transcript variant 2, mRNA.
ACCESSION   NM_001256749
VERSION     NM_001256749.3
KEYWORDS    RefSeq.
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 1677)
  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   2  (bases 1 to 1677)
  AUTHORS   Xiong,F., Ji,Z., Liu,Y., Zhang,Y., Hu,L., Yang,Q., Qiu,Q., Zhao,L.,
            Chen,D., Tian,Z., Shang,X., Zhang,L., Wei,X., Liu,C., Yu,Q.,
            Zhang,M., Cheng,J., Xiong,J., Li,D., Wu,X., Yuan,H., Zhang,W. and
            Xu,X.
  TITLE     Mutation in SSUH2 Causes Autosomal-Dominant Dentin Dysplasia Type I
  JOURNAL   Hum Mutat 38 (1), 95-104 (2017)
   PUBMED   27680507
  REMARK    GeneRIF: our observations demonstrate that SSUH2 disrupts dental
            formation and that this novel gene, together with other
            odontogenesis genes, is involved in tooth development.
REFERENCE   3  (bases 1 to 1677)
  AUTHORS   Reinartz,A., Ehling,J., Franz,S., Simon,V., Bravo,I.G., Tessmer,C.,
            Zentgraf,H., Lyer,S., Schneider,U., Koster,J., Raupach,K.,
            Kammerer,E., Klaus,C., Tischendorf,J.J., Kopitz,J., Alonso,A. and
            Gassler,N.
  TITLE     Small intestinal mucosa expression of putative chaperone fls485
  JOURNAL   BMC Gastroenterol 10, 27 (2010)
   PUBMED   20205943
  REMARK    GeneRIF: Expression and synthesis of fls485 are found in surface
            lining epithelia of normal human intestinal mucosa and deriving
            epithelial cell lines.
            Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC034187.6.
            
            On Apr 16, 2021 this sequence version replaced NM_001256749.2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC052614.1, SRR14038196.3432867.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-95                AC034187.6         58689-58783
            96-194              AC034187.6         74916-75014
            195-276             AC034187.6         75392-75473
            277-406             AC034187.6         76978-77107
            407-467             AC034187.6         78664-78724
            468-592             AC034187.6         79844-79968
            593-655             AC034187.6         81047-81109
            656-741             AC034187.6         82990-83075
            742-834             AC034187.6         84452-84544
            835-940             AC034187.6         85126-85231
            941-1048            AC034187.6         87117-87224
            1049-1677           AC034187.6         90759-91387
FEATURES             Location/Qualifiers
     source          1..1677
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p25.3"
     gene            1..1677
                     /gene="SSUH2"
                     /gene_synonym="C3orf32; fls485; SSU-2"
                     /note="ssu-2 homolog"
                     /db_xref="GeneID:51066"
                     /db_xref="HGNC:HGNC:24809"
                     /db_xref="MIM:617479"
     exon            1..95
                     /gene="SSUH2"
                     /gene_synonym="C3orf32; fls485; SSU-2"
                     /inference="alignment:Splign:2.1.0"
     exon            96..194
                     /gene="SSUH2"
                     /gene_synonym="C3orf32; fls485; SSU-2"
                     /inference="alignment:Splign:2.1.0"
     exon            195..276
                     /gene="SSUH2"
                     /gene_synonym="C3orf32; fls485; SSU-2"
                     /inference="alignment:Splign:2.1.0"
     exon            277..406
                     /gene="SSUH2"
                     /gene_synonym="C3orf32; fls485; SSU-2"
                     /inference="alignment:Splign:2.1.0"
     CDS             287..1195
                     /gene="SSUH2"
                     /gene_synonym="C3orf32; fls485; SSU-2"
                     /note="isoform 2 is encoded by transcript variant 2;
                     protein ssu-2 homolog; protein SSUH2 homolog"
                     /codon_start=1
                     /product="protein SSUH2 homolog isoform 2"
                     /protein_id="NP_001243678.1"
                     /db_xref="CCDS:CCDS2568.2"
                     /db_xref="GeneID:51066"
                     /db_xref="HGNC:HGNC:24809"
                     /db_xref="MIM:617479"
                     /translation="MTEEVAREALLSFVDSKCCYSSTVAGDLVIQELKRQTLCRYRLE
                     TFSESRISEWTFQPFTNHSVDGPQRGASPRLWDIKVQGPPMFQEDTRKFQVPHSSLVK
                     ECHKCHGRGRYKCSGCHGAGTVRCPSCCGAKRKAKQSRRCQLCAGSGRRRCSTCSGRG
                     NKTCATCKGEKKLLHFIQLVIMWKNSLFEFVSEHRLNCPRELLAKAKGENLFKDENSV
                     VYPIVDFPLRDISLASQRGIAEHSAALASRARVLQQRQTIELIPLTEVHYWYQGKTYV
                     YYIYGTDHQVYAVDYPERYCCGCTIV"
     exon            407..467
                     /gene="SSUH2"
                     /gene_synonym="C3orf32; fls485; SSU-2"
                     /inference="alignment:Splign:2.1.0"
     exon            468..592
                     /gene="SSUH2"
                     /gene_synonym="C3orf32; fls485; SSU-2"
                     /inference="alignment:Splign:2.1.0"
     exon            593..655
                     /gene="SSUH2"
                     /gene_synonym="C3orf32; fls485; SSU-2"
                     /inference="alignment:Splign:2.1.0"
     exon            656..741
                     /gene="SSUH2"
                     /gene_synonym="C3orf32; fls485; SSU-2"
                     /inference="alignment:Splign:2.1.0"
     exon            742..834
                     /gene="SSUH2"
                     /gene_synonym="C3orf32; fls485; SSU-2"
                     /inference="alignment:Splign:2.1.0"
     exon            835..940
                     /gene="SSUH2"
                     /gene_synonym="C3orf32; fls485; SSU-2"
                     /inference="alignment:Splign:2.1.0"
     exon            941..1048
                     /gene="SSUH2"
                     /gene_synonym="C3orf32; fls485; SSU-2"
                     /inference="alignment:Splign:2.1.0"
     exon            1049..1677
                     /gene="SSUH2"
                     /gene_synonym="C3orf32; fls485; SSU-2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1444..1449
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SSUH2"
                     /gene_synonym="C3orf32; fls485; SSU-2"
                     /note="hexamer: AATAAT"
     polyA_site      1463
                     /gene="SSUH2"
                     /gene_synonym="C3orf32; fls485; SSU-2"
                     /note="major polyA site"
     regulatory      1633..1638
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SSUH2"
                     /gene_synonym="C3orf32; fls485; SSU-2"
                     /note="hexamer: AATAAA"
     regulatory      1652..1657
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SSUH2"
                     /gene_synonym="C3orf32; fls485; SSU-2"
                     /note="hexamer: CATAAA"
     polyA_site      1660
                     /gene="SSUH2"
                     /gene_synonym="C3orf32; fls485; SSU-2"
     polyA_site      1677
                     /gene="SSUH2"
                     /gene_synonym="C3orf32; fls485; SSU-2"
ORIGIN      
        1 atcactgtgc atgcgggaca cgctgtagaa cagctcacac tggctggcac tgctaagcag
       61 gtgcggaggg gagtcagaga cccccggatg gaggggtgtg gtggacctca gttttgaggc
      121 cgagagtcct ctggcgcccc ccacagagct cctggagaga ctgcccagct atgactggct
      181 tcttcaaggg ggcagaggac agatattctt cccacctttg gaggccccag ggaggcccca
      241 ggagcaaagg tcctggccct cgttcctgga acacagagtc cctgcgatga cggaggaggt
      301 ggcccgggaa gccctcctca gctttgtgga ctctaagtgc tgctacagca gcacggtggc
      361 tggagacctc gtcatccagg agctgaagcg gcagaccctc tgcaggtacc gtctggagac
      421 ctttagtgaa tccaggataa gcgagtggac atttcaaccc tttactaacc actctgtgga
      481 tgggccgcaa agaggcgcct cccccaggct ctgggacatc aaggttcaag gtcctccgat
      541 gtttcaggaa gacaccagga agttccaggt ccctcactcg tcactggtca aggaatgcca
      601 caaatgccat gggcgtgggc ggtacaagtg cagcggctgc cacggggcgg gcacggtgcg
      661 gtgcccatcc tgctgcggag ccaagcgcaa agccaagcag tcccggagat gtcagctgtg
      721 cgcggggtcc ggcaggcgaa gatgcagcac ttgctcaggg agagggaaca agacctgcgc
      781 cacctgcaag ggggagaaga agctgttgca cttcatccag cttgtcatca tgtggaagaa
      841 cagcttgttt gagtttgtgt ctgagcaccg gctcaactgc cccagggagc tccttgctaa
      901 agccaaagga gaaaacctct ttaaggatga aaactcggtg gtgtacccca tcgtggactt
      961 ccctctgcga gacatctctc ttgcctccca gaggggcatt gcagagcaca gcgctgcctt
     1021 ggcctcccgt gcccgcgtcc tgcagcagcg ccagaccatt gagctgatcc ccctcacaga
     1081 agttcactat tggtaccaag gaaagactta tgtctactac atctatggca ctgaccacca
     1141 ggtgtatgcg gtggactatc ctgagcggta ttgctgtggc tgtaccatcg tgtgacatag
     1201 catggctgtc cccagagcct gccattcacg tttgccaagg aagatggccg acactctctg
     1261 agtgtgttca ctgttggctg cattggacaa tcacatacaa accctggcat gtccttccag
     1321 aaaaaccagc ttatcatcta tcaagctcca accccttata cagctcctct ggtggaatcc
     1381 atgactcata tgtttaacct acaataattc agctatacac attcctgtag aacaaatgag
     1441 agaaataatt taaatggcaa ggactttgcc tctggtctcc aagttaatgc cccgatgatg
     1501 cgtgtgattt gattttgctt tttccctttg tcggtcttgg ttctggtgtg cttcttctag
     1561 tgggagcctc ttgacgatct gagtattact gaaatgttca aggatacaca caaatatctg
     1621 gccctaatgc acaataaata ctgcacttag gcataaagtg caatatgtta ctgccca
//
