LOCUS       NM_001256748            1650 bp    mRNA    linear   PRI 22-SEP-2024
DEFINITION  Homo sapiens ssu-2 homolog (SSUH2), transcript variant 1, mRNA.
ACCESSION   NM_001256748
VERSION     NM_001256748.3
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 1650)
  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 1650)
  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 1650)
  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_001256748.2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK300175.1, SRR3476690.890215.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000544814.7/ ENSP00000439378.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-68                AC034187.6         65975-66042
            69-167              AC034187.6         74916-75014
            168-249             AC034187.6         75392-75473
            250-379             AC034187.6         76978-77107
            380-440             AC034187.6         78664-78724
            441-565             AC034187.6         79844-79968
            566-628             AC034187.6         81047-81109
            629-714             AC034187.6         82990-83075
            715-807             AC034187.6         84452-84544
            808-913             AC034187.6         85126-85231
            914-1021            AC034187.6         87117-87224
            1022-1650           AC034187.6         90759-91387
FEATURES             Location/Qualifiers
     source          1..1650
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p25.3"
     gene            1..1650
                     /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..68
                     /gene="SSUH2"
                     /gene_synonym="C3orf32; fls485; SSU-2"
                     /inference="alignment:Splign:2.1.0"
     CDS             41..1168
                     /gene="SSUH2"
                     /gene_synonym="C3orf32; fls485; SSU-2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     protein ssu-2 homolog; protein SSUH2 homolog"
                     /codon_start=1
                     /product="protein SSUH2 homolog isoform 1"
                     /protein_id="NP_001243677.1"
                     /db_xref="CCDS:CCDS58815.1"
                     /db_xref="GeneID:51066"
                     /db_xref="HGNC:HGNC:24809"
                     /db_xref="MIM:617479"
                     /translation="MDRDLNEDDSVVDLSFEAESPLAPPTELLERLPSYDWLLQGGRG
                     QIFFPPLEAPGRPQEQRSWPSFLEHRVPAMTEEVAREALLSFVDSKCCYSSTVAGDLV
                     IQELKRQTLCRYRLETFSESRISEWTFQPFTNHSVDGPQRGASPRLWDIKVQGPPMFQ
                     EDTRKFQVPHSSLVKECHKCHGRGRYKCSGCHGAGTVRCPSCCGAKRKAKQSRRCQLC
                     AGSGRRRCSTCSGRGNKTCATCKGEKKLLHFIQLVIMWKNSLFEFVSEHRLNCPRELL
                     AKAKGENLFKDENSVVYPIVDFPLRDISLASQRGIAEHSAALASRARVLQQRQTIELI
                     PLTEVHYWYQGKTYVYYIYGTDHQVYAVDYPERYCCGCTIV"
     exon            69..167
                     /gene="SSUH2"
                     /gene_synonym="C3orf32; fls485; SSU-2"
                     /inference="alignment:Splign:2.1.0"
     exon            168..249
                     /gene="SSUH2"
                     /gene_synonym="C3orf32; fls485; SSU-2"
                     /inference="alignment:Splign:2.1.0"
     exon            250..379
                     /gene="SSUH2"
                     /gene_synonym="C3orf32; fls485; SSU-2"
                     /inference="alignment:Splign:2.1.0"
     exon            380..440
                     /gene="SSUH2"
                     /gene_synonym="C3orf32; fls485; SSU-2"
                     /inference="alignment:Splign:2.1.0"
     exon            441..565
                     /gene="SSUH2"
                     /gene_synonym="C3orf32; fls485; SSU-2"
                     /inference="alignment:Splign:2.1.0"
     exon            566..628
                     /gene="SSUH2"
                     /gene_synonym="C3orf32; fls485; SSU-2"
                     /inference="alignment:Splign:2.1.0"
     exon            629..714
                     /gene="SSUH2"
                     /gene_synonym="C3orf32; fls485; SSU-2"
                     /inference="alignment:Splign:2.1.0"
     exon            715..807
                     /gene="SSUH2"
                     /gene_synonym="C3orf32; fls485; SSU-2"
                     /inference="alignment:Splign:2.1.0"
     exon            808..913
                     /gene="SSUH2"
                     /gene_synonym="C3orf32; fls485; SSU-2"
                     /inference="alignment:Splign:2.1.0"
     exon            914..1021
                     /gene="SSUH2"
                     /gene_synonym="C3orf32; fls485; SSU-2"
                     /inference="alignment:Splign:2.1.0"
     exon            1022..1650
                     /gene="SSUH2"
                     /gene_synonym="C3orf32; fls485; SSU-2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1417..1422
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SSUH2"
                     /gene_synonym="C3orf32; fls485; SSU-2"
                     /note="hexamer: AATAAT"
     polyA_site      1436
                     /gene="SSUH2"
                     /gene_synonym="C3orf32; fls485; SSU-2"
                     /note="major polyA site"
     regulatory      1606..1611
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SSUH2"
                     /gene_synonym="C3orf32; fls485; SSU-2"
                     /note="hexamer: AATAAA"
     regulatory      1625..1630
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SSUH2"
                     /gene_synonym="C3orf32; fls485; SSU-2"
                     /note="hexamer: CATAAA"
     polyA_site      1633
                     /gene="SSUH2"
                     /gene_synonym="C3orf32; fls485; SSU-2"
     polyA_site      1650
                     /gene="SSUH2"
                     /gene_synonym="C3orf32; fls485; SSU-2"
ORIGIN      
        1 actcgaaggg cagacatctc tttggcagga cgtctggaac atggacaggg atctgaatga
       61 agatgacagt gtggtggacc tcagttttga ggccgagagt cctctggcgc cccccacaga
      121 gctcctggag agactgccca gctatgactg gcttcttcaa gggggcagag gacagatatt
      181 cttcccacct ttggaggccc cagggaggcc ccaggagcaa aggtcctggc cctcgttcct
      241 ggaacacaga gtccctgcga tgacggagga ggtggcccgg gaagccctcc tcagctttgt
      301 ggactctaag tgctgctaca gcagcacggt ggctggagac ctcgtcatcc aggagctgaa
      361 gcggcagacc ctctgcaggt accgtctgga gacctttagt gaatccagga taagcgagtg
      421 gacatttcaa ccctttacta accactctgt ggatgggccg caaagaggcg cctcccccag
      481 gctctgggac atcaaggttc aaggtcctcc gatgtttcag gaagacacca ggaagttcca
      541 ggtccctcac tcgtcactgg tcaaggaatg ccacaaatgc catgggcgtg ggcggtacaa
      601 gtgcagcggc tgccacgggg cgggcacggt gcggtgccca tcctgctgcg gagccaagcg
      661 caaagccaag cagtcccgga gatgtcagct gtgcgcgggg tccggcaggc gaagatgcag
      721 cacttgctca gggagaggga acaagacctg cgccacctgc aagggggaga agaagctgtt
      781 gcacttcatc cagcttgtca tcatgtggaa gaacagcttg tttgagtttg tgtctgagca
      841 ccggctcaac tgccccaggg agctccttgc taaagccaaa ggagaaaacc tctttaagga
      901 tgaaaactcg gtggtgtacc ccatcgtgga cttccctctg cgagacatct ctcttgcctc
      961 ccagaggggc attgcagagc acagcgctgc cttggcctcc cgtgcccgcg tcctgcagca
     1021 gcgccagacc attgagctga tccccctcac agaagttcac tattggtacc aaggaaagac
     1081 ttatgtctac tacatctatg gcactgacca ccaggtgtat gcggtggact atcctgagcg
     1141 gtattgctgt ggctgtacca tcgtgtgaca tagcatggct gtccccagag cctgccattc
     1201 acgtttgcca aggaagatgg ccgacactct ctgagtgtgt tcactgttgg ctgcattgga
     1261 caatcacata caaaccctgg catgtccttc cagaaaaacc agcttatcat ctatcaagct
     1321 ccaacccctt atacagctcc tctggtggaa tccatgactc atatgtttaa cctacaataa
     1381 ttcagctata cacattcctg tagaacaaat gagagaaata atttaaatgg caaggacttt
     1441 gcctctggtc tccaagttaa tgccccgatg atgcgtgtga tttgattttg ctttttccct
     1501 ttgtcggtct tggttctggt gtgcttcttc tagtgggagc ctcttgacga tctgagtatt
     1561 actgaaatgt tcaaggatac acacaaatat ctggccctaa tgcacaataa atactgcact
     1621 taggcataaa gtgcaatatg ttactgccca
//
