LOCUS       NM_001258275            2820 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens sterile alpha motif domain containing 3 (SAMD3),
            transcript variant 3, mRNA.
ACCESSION   NM_001258275
VERSION     NM_001258275.3
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 2820)
  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   2  (bases 1 to 2820)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2820)
  AUTHORS   Jeff,J.M., Ritchie,M.D., Denny,J.C., Kho,A.N., Ramirez,A.H.,
            Crosslin,D., Armstrong,L., Basford,M.A., Wolf,W.A., Pacheco,J.A.,
            Chisholm,R.L., Roden,D.M., Hayes,M.G. and Crawford,D.C.
  TITLE     Generalization of variants identified by genome-wide association
            studies for electrocardiographic traits in African Americans
  JOURNAL   Ann Hum Genet 77 (4), 321-332 (2013)
   PUBMED   23534349
REFERENCE   4  (bases 1 to 2820)
  AUTHORS   Weimann,M., Grossmann,A., Woodsmith,J., Ozkan,Z., Birth,P.,
            Meierhofer,D., Benlasfer,N., Valovka,T., Timmermann,B.,
            Wanker,E.E., Sauer,S. and Stelzl,U.
  TITLE     A Y2H-seq approach defines the human protein methyltransferase
            interactome
  JOURNAL   Nat Methods 10 (4), 339-342 (2013)
   PUBMED   23455924
REFERENCE   5  (bases 1 to 2820)
  AUTHORS   Docherty,S.J., Kovas,Y. and Plomin,R.
  TITLE     Gene-environment interaction in the etiology of mathematical
            ability using SNP sets
  JOURNAL   Behav Genet 41 (1), 141-154 (2011)
   PUBMED   20978832
  REMARK    GeneRIF: Observational study of gene-disease association, gene-gene
            interaction, and gene-environment interaction. (HuGE Navigator)
REFERENCE   6  (bases 1 to 2820)
  AUTHORS   Docherty,S.J., Kovas,Y., Petrill,S.A. and Plomin,R.
  TITLE     Generalist genes analysis of DNA markers associated with
            mathematical ability and disability reveals shared influence across
            ages and abilities
  JOURNAL   BMC Genet 11, 61 (2010)
   PUBMED   20602751
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 2820)
  AUTHORS   Gudbjartsson,D.F., Walters,G.B., Thorleifsson,G., Stefansson,H.,
            Halldorsson,B.V., Zusmanovich,P., Sulem,P., Thorlacius,S.,
            Gylfason,A., Steinberg,S., Helgadottir,A., Ingason,A.,
            Steinthorsdottir,V., Olafsdottir,E.J., Olafsdottir,G.H.,
            Jonsson,T., Borch-Johnsen,K., Hansen,T., Andersen,G., Jorgensen,T.,
            Pedersen,O., Aben,K.K., Witjes,J.A., Swinkels,D.W., den Heijer,M.,
            Franke,B., Verbeek,A.L., Becker,D.M., Yanek,L.R., Becker,L.C.,
            Tryggvadottir,L., Rafnar,T., Gulcher,J., Kiemeney,L.A., Kong,A.,
            Thorsteinsdottir,U. and Stefansson,K.
  TITLE     Many sequence variants affecting diversity of adult human height
  JOURNAL   Nat Genet 40 (5), 609-615 (2008)
   PUBMED   18391951
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL121947.14, KF458284.1, AK091351.1, AK091882.1 and AI129628.1.
            
            On May 31, 2019 this sequence version replaced NM_001258275.2.
            
            Transcript Variant: This variant (3) differs in the 5' UTR,
            compared to variant 1. Both variants 1 and 3 encode the same
            isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK091351.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-409               AL121947.14        128841-129249       c
            410-443             KF458284.1         1-34
            444-467             AK091351.1         3-26
            468-468             KF458284.1         59-59
            469-2715            AK091351.1         28-2274
            2716-2817           AK091882.1         1992-2093
            2818-2820           AI129628.1         14-16               c
FEATURES             Location/Qualifiers
     source          1..2820
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q23.1"
     gene            1..2820
                     /gene="SAMD3"
                     /note="sterile alpha motif domain containing 3"
                     /db_xref="GeneID:154075"
                     /db_xref="HGNC:HGNC:21574"
                     /db_xref="MIM:620516"
     exon            1..749
                     /gene="SAMD3"
                     /inference="alignment:Splign:2.1.0"
     exon            750..865
                     /gene="SAMD3"
                     /inference="alignment:Splign:2.1.0"
     exon            866..985
                     /gene="SAMD3"
                     /inference="alignment:Splign:2.1.0"
     exon            986..1031
                     /gene="SAMD3"
                     /inference="alignment:Splign:2.1.0"
     exon            1032..1131
                     /gene="SAMD3"
                     /inference="alignment:Splign:2.1.0"
     CDS             1053..2615
                     /gene="SAMD3"
                     /note="isoform 1 is encoded by transcript variant 3;
                     sterile alpha motif domain-containing protein 3; SAM
                     domain-containing protein 3"
                     /codon_start=1
                     /product="sterile alpha motif domain-containing protein 3
                     isoform 1"
                     /protein_id="NP_001245204.1"
                     /db_xref="CCDS:CCDS34539.1"
                     /db_xref="GeneID:154075"
                     /db_xref="HGNC:HGNC:21574"
                     /db_xref="MIM:620516"
                     /translation="METWSVEQVCSWLVEKNLGELVHRFQEEEVSGAALLALNDRMVQ
                     QLVKKIGHQAVLMDLIKKYKQNTQGLKSPENPKKAALVMQTEAARDYRDEESSSPARH
                     GEQMPSFYPAENLDNGLIDQRVLKQRRNVKQILARSKALQWTKSYVLPEFPYDVKCML
                     AEQKCPDHSMRIRIIEFLQADMTKYLEGSLYPSTQQYNDVVNALLQAHPFLDEDGCGF
                     FLWKRALKDRFKYVRRPIEDDEQVIRNKCKFGHRRGQTRKSLADIRFDEIKLVQIKEE
                     AVCFDSELDEHIKWFQQEYVKTEKDWREIDKRMSQTLEIRRKMIGSRTPLKDILKLFP
                     FLKCPYQMFREFQLLTRTDIYKKTRHILESYSENILTSFSVVDNPINIVLQEKMKHYT
                     DEDMLKYMKMTATCLLLPDVFGDDPSLFVIMNEQVQVSTPVLEVKNPFNMEVCEFSLY
                     LERERLTKVDDCVTALAALVAAFHVFRIECPRRLSQTFNFLETLIFDMHSPYFPSLKE
                     KENEVGFQHPLT"
     exon            1132..1321
                     /gene="SAMD3"
                     /inference="alignment:Splign:2.1.0"
     exon            1322..1435
                     /gene="SAMD3"
                     /inference="alignment:Splign:2.1.0"
     exon            1436..1621
                     /gene="SAMD3"
                     /inference="alignment:Splign:2.1.0"
     exon            1622..1706
                     /gene="SAMD3"
                     /inference="alignment:Splign:2.1.0"
     exon            1707..1874
                     /gene="SAMD3"
                     /inference="alignment:Splign:2.1.0"
     exon            1875..2075
                     /gene="SAMD3"
                     /inference="alignment:Splign:2.1.0"
     exon            2076..2247
                     /gene="SAMD3"
                     /inference="alignment:Splign:2.1.0"
     exon            2248..2330
                     /gene="SAMD3"
                     /inference="alignment:Splign:2.1.0"
     exon            2331..2820
                     /gene="SAMD3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2799..2804
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SAMD3"
                     /note="hexamer: AATAAA"
     polyA_site      2820
                     /gene="SAMD3"
                     /note="major polyA site"
ORIGIN      
        1 agtcctgcca cccactcctc ctggaggacg cagacaggat ctgctctgca ggagcccagg
       61 ccggccgatc cgcgtcccgg ccacaaagtt gcacttcgag agcccaaatc acccgcagac
      121 aaaacccatc tttgggaaca aagtacccgc ttgcaggcgc tcttcccggg ctggaaggct
      181 ggcgtgcgga aacggacaca cccacccgtg gggcccgcct ctagctaccg cgggaccacc
      241 ggttaccgag ccagggaccc ggctccccca gttctccgga gcggctgggg agctccagcc
      301 gactcgcagt attcccggag caggcaccgc aggaccctgg ctccacgccc ctcggacgct
      361 ttctcctcag atgccgcccg gcgggccggg gtccccctgg cgggctgcgc gggcgctgcg
      421 cgagctaaac caaacctggc cggaaaagac gcggccaagg cccgctccgt ccacgcttcc
      481 cgccggcccg gcaaggggtt ccggagaacg gcttgggggg gcgagaacca tgggcggggg
      541 aaatggaaga cagagggaac tgaagcacgg gggtcttcga tgagcagtgc ggatgttcga
      601 ctccaaacat caaagccaac gagaggttca ggttactcct ccttgacccc aaacatccag
      661 tgagtggaga ctggcctgtt cacagagtaa aatatgtcgt ctctaattcg gcaaagacgg
      721 tgatgactgt atatatgcag gccaattccg ctctccaaga gattctaact cagtcacagt
      781 ttgaaccact actgaaccac tgctgttagg aagctacaac ccaaaagaaa agccccacag
      841 atgctgagag ctggtgatcc tcaggataaa acaaaggaac cagaaccaca tccactgatc
      901 ggatttgcct ggggaggagg ggtgctctct cctttgatct tctcttctgg aagagatgga
      961 ccaaaagcct ctccagcaat aatccgaaat gattcttgaa gactatcttt ccagcttgtc
     1021 acatatgcaa ggtgtattta caggagacag caatggaaac ctggtcagtt gagcaggtct
     1081 gcagttggtt ggtggagaaa aatttaggag agctagttca tagatttcaa gaggaagaag
     1141 taagtggggc cgctcttctt gcacttaatg atcggatggt tcagcaactg gtaaagaaaa
     1201 ttgggcacca ggctgttctg atggatttaa ttaaaaaata caagcagaac actcaaggac
     1261 tgaagtcccc agaaaacccc aaaaaggcag ccctggtcat gcaaacagaa gcagctcgag
     1321 attacaggga tgaagagtcc tccagtccag ccaggcatgg ggagcagatg ccatctttct
     1381 atccagctga aaaccttgat aatggactaa ttgaccaaag agtattgaaa cagagaagaa
     1441 atgtgaaaca aattctagca agaagcaaag cattacagtg gacgaagtcc tatgttttac
     1501 cagagtttcc ctatgatgtc aaatgcatgt tagcagagca gaagtgcccg gatcacagca
     1561 tgaggataag gatcattgag tttctccagg ccgacatgac taagtatctg gaaggctcac
     1621 tgtaccccag cacccagcag tacaatgacg tggttaatgc cctgctgcag gcccaccctt
     1681 tcctggatga ggatggctgt ggcttctttt tatggaaacg agccctcaaa gatcgcttta
     1741 aatatgttcg aagacccata gaagatgatg agcaagtgat tagaaataag tgtaaatttg
     1801 gacaccgaag aggccagaca aggaaatctc ttgctgatat aagatttgat gaaattaaac
     1861 ttgtccagat aaaagaagaa gctgtttgtt ttgattctga gctagatgaa catattaagt
     1921 ggttccagca agaatacgtg aaaacagaaa aggactggag agaaattgac aagagaatga
     1981 gccaaacttt ggaaataaga agaaagatga ttggcagccg aacacctctg aaggacattc
     2041 ttaaactgtt tcctttcttg aagtgccctt atcagatgtt cagagaattc caacttctta
     2101 caagaacaga tatttataag aaaacaaggc acattttgga atcctattca gaaaatatac
     2161 tgacttcttt ttcagtggtg gacaatccaa tcaatattgt attgcaagaa aaaatgaaac
     2221 attacacaga tgaagacatg ttgaaataca tgaagatgac agccacatgt ttactcctcc
     2281 cagatgtttt tggggatgat cccagccttt ttgtcatcat gaatgaacag gtgcaagtgt
     2341 ccacacctgt gttggaagtt aaaaaccctt tcaacatgga ggtctgcgaa ttttctttat
     2401 atttagaaag ggagaggctc acaaaggtgg acgactgtgt tacagccttg gctgcgctag
     2461 tagctgcctt tcatgtattt aggattgagt gtccaagaag actgtcccaa actttcaact
     2521 tcctagaaac gctgattttc gatatgcaca gtccttattt tccttctttg aaagaaaagg
     2581 aaaacgaagt aggatttcag cacccactca cttaatagca tgccaaatat tgtactggaa
     2641 tttacctctg ggaaaactga agcttcataa gaaattgttt tgatttaggg ttgtggtaga
     2701 ggtaggtatg agaaaatcat cttgtattta tagatgctaa tgaatttcaa tgctttctat
     2761 ctttacactt agatattaag ttctttgtga aattctgtaa taaaattcta cttcattaaa
//
